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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:X-linked monogenic disease
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Accession:DOID:0050735 term browser browse the term
Definition:A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. (DO)
Synonyms:exact_synonym: Genetic Diseases, X Chromosome Linked;   X-linked disease;   X-linked genetic disease;   X-linked inheritance
 primary_id: MESH:D040181


show annotations for term's descendants           Sort by:
X-linked monogenic disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AVPR2 vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19703807 NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G MSL3 MSL complex subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30224647 NCBI chr  X:8,519,366...8,535,249
Ensembl chr  X:8,519,370...8,535,249 		JBrowse link
46,XX sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRY sex determining region Y ISO ClinVar Annotator: match by term: 46,XX sex reversal 1 OMIM
ClinVar		 PMID:25741868 NCBI chr  Y:40,484,990...40,485,700
Ensembl chr  Y:40,484,990...40,485,700 		JBrowse link
46,XY sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NR0B1 nuclear receptor subfamily 0 group B member 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 2 | ClinVar Annotator: match by term: 46XY sex reversal 2, dosage-sensitive OMIM
ClinVar		 PMID:7990958 PMID:9195207 PMID:9486644 PMID:9529340 PMID:10599709 More... NCBI chr  X:26,117,874...26,122,951
Ensembl chr  X:26,117,874...26,122,951 		JBrowse link
Abruzzo-Erickson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Abruzzo-Erickson syndrome OMIM
ClinVar		 PMID:839509 PMID:22784330 PMID:25741868 NCBI chr  X:63,837,576...63,845,704
Ensembl chr  X:63,837,284...63,846,483 		JBrowse link
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 susceptibility ISO ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy OMIM
ClinVar
RGD		 PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 More... RGD:1598655 NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ACSBG1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 7:47,705,091...47,760,797
Ensembl chr 7:47,705,121...47,762,538 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,383,392...125,439,082
Ensembl chr  X:125,383,414...125,439,082 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867 		JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,372,941...125,383,272
Ensembl chr  X:125,372,941...125,376,999 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,404,852...124,414,246
Ensembl chr  X:124,409,289...124,414,212 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G F8A1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,280,978...125,282,771 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,354,032...125,366,029
Ensembl chr  X:125,354,021...125,372,610 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,158,148...125,209,080
Ensembl chr  X:125,158,154...125,209,035 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,277,575...125,280,752 JBrowse link
G H2AB2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,537,401...125,540,026 JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,234,735...124,258,133
Ensembl chr  X:124,234,736...124,258,098 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575 		JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LOC110257703 paraneoplastic antigen-like protein 6B ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,203,040...124,204,023 JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,372,941...125,377,910
Ensembl chr  X:125,377,350...125,381,178 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr 3:80,757,470...80,791,107
Ensembl chr 3:80,753,908...80,791,056 		JBrowse link
G PEX26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 5:70,133,024...70,142,515
Ensembl chr 5:70,133,024...70,142,503 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,425,867...124,430,000
Ensembl chr  X:124,425,872...124,429,261 		JBrowse link
G PNMA5 PNMA family member 5 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,998,935...124,001,201
Ensembl chr  X:123,999,037...124,000,974 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,157...125,259,938 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,695,050...124,699,349 JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,601,920...125,673,716
Ensembl chr  X:125,598,116...125,673,669 		JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598 		JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,485,357...125,506,781
Ensembl chr  X:125,480,808...125,506,771 		JBrowse link
G ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,215,906...124,227,853
Ensembl chr  X:124,216,324...124,224,778 		JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,942,981...123,988,102
Ensembl chr  X:123,944,210...123,987,962 		JBrowse link
G ZNF275 zinc finger protein 275 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,156,708...124,173,566 JBrowse link
Aicardi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARX aristaless related homeobox ISO ClinVar Annotator: match by term: Aicardi syndrome ClinVar PMID:25741868 NCBI chr  X:21,067,631...21,079,850
Ensembl chr  X:21,067,621...21,079,723 		JBrowse link
Aland Island eye disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:30718709 NCBI chr 2:5,068,535...5,079,482
Ensembl chr 2:5,068,037...5,072,188 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Ocular albinism, type II OMIM
ClinVar		 PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 More... NCBI chr  X:43,250,449...43,284,458
Ensembl chr  X:43,251,370...43,283,990 		JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532 PMID:30718709 NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222 		JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC16A2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy OMIM
ClinVar		 PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 More... NCBI chr  X:59,748,685...59,861,018
Ensembl chr  X:59,748,745...59,861,015 		JBrowse link
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:28492532 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
G ATR ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr13:83,175,515...83,289,986
Ensembl chr13:83,174,824...83,289,989 		JBrowse link
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome | ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | ClinVar Annotator: match by term: X-linked alpha-thalassemia-mental retardation syndrome OMIM
ClinVar		 PMID:3239563 PMID:3658675 PMID:6682021 PMID:6711605 PMID:7506096 More... NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:28492532 NCBI chr  X:61,962,383...61,969,011
Ensembl chr  X:61,962,412...61,970,152 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:25741868 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,134...94,609,745 		JBrowse link
G MAGT1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:28492532 NCBI chr  X:61,894,237...61,958,511
Ensembl chr  X:61,894,965...61,958,517 		JBrowse link
alpha-thalassemia myelodysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome OMIM
ClinVar		 PMID:9326931 PMID:10995512 PMID:12858175 PMID:16955409 PMID:20500465 More... NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287 		JBrowse link
amelogenesis imperfecta type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMELX amelogenin X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth OMIM
ClinVar		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:8,055,246...8,063,457
Ensembl chr  X:8,055,782...8,063,449 		JBrowse link
G ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:7,910,851...8,441,579
Ensembl chr  X:7,910,858...8,120,386 		JBrowse link
androgen insensitivity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor ISO ClinVar Annotator: match by term: Androgen resistance syndrome | ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency OMIM
ClinVar		 PMID:1158706 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1458719 More... NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
G CDC45 cell division cycle 45 ISO ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606 		JBrowse link
G FKBP4 FKBP prolyl isomerase 4 ISO OMIM:300068 MouseDO NCBI chr 5:67,314,010...67,321,628
Ensembl chr 5:67,313,480...67,322,028 		JBrowse link
G KAT7 lysine acetyltransferase 7 ISO protein:decreased expression:testes (human) RGD PMID:23707616 RGD:9681005 NCBI chr12:25,970,966...26,005,006
Ensembl chr12:25,970,962...26,008,302 		JBrowse link
Androgen Insensitivity Syndrome due to Coactivator Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor ISO ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency ClinVar PMID:2594783 PMID:9544375 PMID:10852459 PMID:16804045 PMID:17970778 More... NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
G CDC45 cell division cycle 45 ISO ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606 		JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKIB1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 9:72,184,805...72,328,765
Ensembl chr 9:72,184,815...72,328,763 		JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:72,143,652...72,184,774
Ensembl chr 9:72,142,835...72,185,661 		JBrowse link
Armfield syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Armfield syndrome | ClinVar Annotator: match by term: FAM50A-related condition OMIM
ClinVar		 PMID:10398235 PMID:25741868 PMID:32703943 NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision OMIM
ClinVar		 PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 More... NCBI chr  X:88,074,861...88,101,925
Ensembl chr  X:88,074,965...88,101,910 		JBrowse link
Atkin Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,548...46,220,883 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, nonspecific ClinVar PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9536098 More... NCBI chr  X:46,011,386...46,094,978
Ensembl chr  X:46,011,388...46,094,817 		JBrowse link
G KDM5C lysine demethylase 5C ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:45,968,812...46,003,215
Ensembl chr  X:45,968,814...46,003,215 		JBrowse link
G MIR98 microRNA mir-98 ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:46,302,381...46,302,460
Ensembl chr  X:46,302,381...46,302,460 		JBrowse link
G MIRLET7F-1 microRNA let-7f-1 ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:46,303,245...46,303,327
Ensembl chr  X:46,303,245...46,303,327 		JBrowse link
G RIBC1 RIB43A domain with coiled-coils 1 ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:46,202,213...46,218,691
Ensembl chr  X:46,208,669...46,218,382 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome ClinVar PMID:19052029 PMID:23683030 PMID:26059843 PMID:28492532 NCBI chr  X:46,143,738...46,202,187
Ensembl chr  X:46,144,920...46,218,543 		JBrowse link
AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELF4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 OMIM
ClinVar		 PMID:25741868 PMID:27932483 PMID:34326534 PMID:35266071 NCBI chr  X:106,617,747...106,661,340
Ensembl chr  X:106,617,753...106,661,108 		JBrowse link
autosomal hemophilia A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Mild hemophilia A ClinVar PMID:29357978 NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G LOC102161030 interferon lambda-4 treatment ISO associated with Chronic Hepatitis C;DNA:SNPs:intron: (rs12979860,rs8099917,rs368234815) (human) RGD PMID:27904617 RGD:40400749 NCBI chr 6:47,946,679...47,948,710 JBrowse link
autosomal recessive congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:25741868 PMID:27476656 NCBI chr  X:15,370,327...15,518,746
Ensembl chr  X:15,371,805...15,463,619 		JBrowse link
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation OMIM
ClinVar		 PMID:754013 PMID:1282016 PMID:1283148 PMID:1283149 PMID:1284466 More... NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950 		JBrowse link
Barth syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,383,392...125,439,082
Ensembl chr  X:125,383,414...125,439,082 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867 		JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,372,941...125,383,272
Ensembl chr  X:125,372,941...125,376,999 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria ClinVar PMID:1719174 PMID:9345098 PMID:9384614 PMID:9536098 PMID:10480214 More... NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,404,852...124,414,246
Ensembl chr  X:124,409,289...124,414,212 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G F8A1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,280,978...125,282,771 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
G FKBP1A FKBP prolyl isomerase 1A ISO OMIM:302060 MouseDO NCBI chr17:33,910,047...33,935,212 JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,354,032...125,366,029
Ensembl chr  X:125,354,021...125,372,610 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria ClinVar PMID:1303182 PMID:5673160 PMID:6714978 PMID:9384614 PMID:10480214 More... NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,158,148...125,209,080
Ensembl chr  X:125,158,154...125,209,035 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,277,575...125,280,752 JBrowse link
G H2AB2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,537,401...125,540,026 JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,234,735...124,258,133
Ensembl chr  X:124,234,736...124,258,098 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LOC110257703 paraneoplastic antigen-like protein 6B ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,203,040...124,204,023 JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G MEST mesoderm specific transcript ISO OMIM:302060 MouseDO NCBI chr18:18,319,126...18,358,655
Ensembl chr18:18,327,536...18,345,843 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,372,941...125,377,910
Ensembl chr  X:125,377,350...125,381,178 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,425,867...124,430,000
Ensembl chr  X:124,425,872...124,429,261 		JBrowse link
G PNMA5 PNMA family member 5 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,998,935...124,001,201
Ensembl chr  X:123,999,037...124,000,974 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,157...125,259,938 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II OMIM
ClinVar		 PMID:972179 PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 More... NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,695,050...124,699,349 JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,601,920...125,673,716
Ensembl chr  X:125,598,116...125,673,669 		JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598 		JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,485,357...125,506,781
Ensembl chr  X:125,480,808...125,506,771 		JBrowse link
G ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,215,906...124,227,853
Ensembl chr  X:124,216,324...124,224,778 		JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,942,981...123,988,102
Ensembl chr  X:123,944,210...123,987,962 		JBrowse link
G ZNF275 zinc finger protein 275 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,156,708...124,173,566 JBrowse link
Basilicata-Akhtar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSL3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: Basilicata-Akhtar syndrome OMIM
ClinVar		 PMID:25741868 PMID:30224647 PMID:33173220 NCBI chr  X:8,519,366...8,535,249
Ensembl chr  X:8,519,370...8,535,249 		JBrowse link
blue cone monochromacy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type | ClinVar Annotator: match by term: Cone dystrophy 5, X-linked OMIM
ClinVar		 PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 More... NCBI chr  X:124,816,014...124,828,225 JBrowse link
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHF6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders OMIM
ClinVar		 PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 More... NCBI chr  X:110,249,010...110,311,503
Ensembl chr  X:110,249,010...110,303,017 		JBrowse link
Brunner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAOA monoamine oxidase A ISO ClinVar Annotator: match by term: Brunner syndrome | ClinVar Annotator: match by term: MAOA-related condition OMIM
ClinVar		 PMID:8211186 PMID:9536098 PMID:11700166 PMID:17296899 PMID:17576681 More... NCBI chr  X:38,930,452...39,006,220 JBrowse link
G MAOB monoamine oxidase B ISO ClinVar Annotator: match by term: Brunner syndrome ClinVar PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 More... NCBI chr  X:39,025,973...39,144,389
Ensembl chr  X:39,025,970...39,144,345 		JBrowse link
G NDP norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Brunner syndrome ClinVar PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 More... NCBI chr  X:39,208,115...39,235,879
Ensembl chr  X:39,208,119...39,235,758 		JBrowse link
cataract 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NHS NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Cataract 40 OMIM
ClinVar		 PMID:19414485 PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:13,854,950...14,209,085
Ensembl chr  X:14,097,006...14,206,568 		JBrowse link
CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40LG CD40 ligand disease_progression ISO ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome OMIM
ClinVar
RGD		 PMID:21841160 PMID:25741868 PMID:28492532 RGD:5490298 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
cerebral creatine deficiency syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,383,392...125,439,082
Ensembl chr  X:125,383,414...125,439,082 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867 		JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,372,941...125,383,272
Ensembl chr  X:125,372,941...125,376,999 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,404,852...124,414,246
Ensembl chr  X:124,409,289...124,414,212 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G F8A1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,280,978...125,282,771 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,354,032...125,366,029
Ensembl chr  X:125,354,021...125,372,610 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,158,148...125,209,080
Ensembl chr  X:125,158,154...125,209,035 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,277,575...125,280,752 JBrowse link
G H2AB2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,537,401...125,540,026 JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,234,735...124,258,133
Ensembl chr  X:124,234,736...124,258,098 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LOC110257703 paraneoplastic antigen-like protein 6B ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,203,040...124,204,023 JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,372,941...125,377,910
Ensembl chr  X:125,377,350...125,381,178 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,425,867...124,430,000
Ensembl chr  X:124,425,872...124,429,261 		JBrowse link
G PNMA5 PNMA family member 5 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,998,935...124,001,201
Ensembl chr  X:123,999,037...124,000,974 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Creatine deficiency syndrome 1 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency | ClinVar Annotator: match by term: X-linked creatine deficiency syndrome OMIM
ClinVar		 PMID:9384614 PMID:9536098 PMID:10480214 PMID:11326334 PMID:11748843 More... NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,157...125,259,938 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:124,695,050...124,699,349 JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,601,920...125,673,716
Ensembl chr  X:125,598,116...125,673,669 		JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598 		JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,485,357...125,506,781
Ensembl chr  X:125,480,808...125,506,771 		JBrowse link
G ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,215,906...124,227,853
Ensembl chr  X:124,216,324...124,224,778 		JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,942,981...123,988,102
Ensembl chr  X:123,944,210...123,987,962 		JBrowse link
G ZNF275 zinc finger protein 275 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,156,708...124,173,566 JBrowse link
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked ClinVar PMID:23176820 PMID:24368176 PMID:24621584 PMID:25326635 PMID:25741868 More... NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,477...43,156,234 		JBrowse link
Charcot-Marie-Tooth disease X-linked dominant 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: X-linked Charcot-Marie-Tooth disease type 1 ClinVar PMID:22522442 PMID:25741868 PMID:26752306 PMID:27083531 PMID:28492532 NCBI chr15:121,319,897...121,335,927
Ensembl chr15:121,319,982...121,335,991 		JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 | ClinVar Annotator: match by term: GJB1-related condition | ClinVar Annotator: match by term: X-linked Charcot-Marie-Tooth disease type 1 OMIM
ClinVar		 PMID:427531 PMID:1211842 PMID:7477983 PMID:7580242 PMID:7946361 More... NCBI chr  X:57,241,990...57,249,496
Ensembl chr  X:57,242,045...57,249,885 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 ClinVar PMID:18465152 PMID:20876471 PMID:25741868 PMID:28492532 NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316 		JBrowse link
G SBF1 SET binding factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:260,779...284,512
Ensembl chr 5:260,935...284,509 		JBrowse link
Charcot-Marie-Tooth disease X-linked dominant 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDK3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23297365 PMID:25741868 More... NCBI chr  X:20,486,205...20,598,492
Ensembl chr  X:20,486,341...20,602,664 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation OMIM
ClinVar		 PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation ClinVar PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:106,708,402...106,723,803
Ensembl chr  X:106,712,398...106,723,404 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy OMIM
ClinVar		 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 More... NCBI chr  X:88,074,861...88,101,925
Ensembl chr  X:88,074,965...88,101,910 		JBrowse link
CHILD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Child syndrome OMIM
ClinVar		 PMID:10710235 PMID:11907515 PMID:12966526 PMID:14527740 PMID:15689440 More... NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type OMIM
ClinVar		 PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887 		JBrowse link
Choroideremia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHM CHM Rab escort protein ISO ClinVar Annotator: match by term: CHM-related condition | ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type OMIM
ClinVar		 PMID:1044764 PMID:1302003 PMID:1598901 PMID:7981670 PMID:8477262 More... NCBI chr  X:68,873,882...69,066,284
Ensembl chr  X:68,873,359...69,066,275 		JBrowse link
G PRPH2 peripherin 2 ISO ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy ClinVar PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More... NCBI chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,490,544...111,534,000 JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,796,485...111,917,195
Ensembl chr  X:111,796,485...111,917,174 		JBrowse link
G BRS3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,615,695...111,620,124
Ensembl chr  X:111,615,564...111,620,124 		JBrowse link
G CD40LG CD40 ligand ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 More... NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855 		JBrowse link
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,309,989...111,367,900
Ensembl chr  X:111,356,011...111,367,903 		JBrowse link
G GPR101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:112,109,592...112,111,333
Ensembl chr  X:112,108,889...112,113,652 		JBrowse link
G HIVEP2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 1:22,240,681...22,436,945
Ensembl chr 1:22,412,984...22,436,130 		JBrowse link
G HTATSF1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,624,303...111,643,566
Ensembl chr  X:111,624,631...111,643,323 		JBrowse link
G MAP7D3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,371,538...111,420,230 JBrowse link
G RBMX RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,965,859...111,974,544
Ensembl chr  X:111,962,633...111,974,472 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 More... NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type OMIM
ClinVar		 PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 More... NCBI chr  X:111,176,461...111,233,108
Ensembl chr  X:111,176,495...111,233,099 		JBrowse link
G VGLL1 vestigial like family member 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,662,565...111,684,676
Ensembl chr  X:111,662,621...111,683,504 		JBrowse link
G ZIC3 Zic family member 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:112,592,951...112,605,087
Ensembl chr  X:112,593,301...112,604,814 		JBrowse link
chromosome Xp11.22 duplication syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-Related Disorder ClinVar NCBI chr  X:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228 		JBrowse link
CK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: CK syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION OMIM
ClinVar		 PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532 NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO ClinVar Annotator: match by term: Lissencephaly, X-linked ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chr  X:91,317,671...91,644,572
Ensembl chr  X:91,323,764...91,644,567 		JBrowse link
G LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr 9:107,670,120...107,747,242
Ensembl chr 9:107,671,152...107,772,269 		JBrowse link
G MNT MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr12:48,469,230...48,486,737
Ensembl chr12:48,469,239...48,486,729 		JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar NCBI chr12:48,567,329...48,735,836
Ensembl chr12:48,628,816...48,735,834 		JBrowse link
Cleft Palate with Ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Cleft palate with ankyloglossia ClinVar PMID:2563678 PMID:11559848 PMID:12374769 PMID:14729838 PMID:22784330 NCBI chr  X:63,837,576...63,845,704
Ensembl chr  X:63,837,284...63,846,483 		JBrowse link
Coffin-Lowry syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,370,327...15,518,746
Ensembl chr  X:15,371,805...15,463,619 		JBrowse link
G BCLAF3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,252,407...16,312,426
Ensembl chr  X:16,252,420...16,312,439 		JBrowse link
G BEND2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,635,795...14,703,934 JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855 		JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,429,625...16,449,581
Ensembl chr  X:16,429,628...16,449,556 		JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,716,898...15,867,377
Ensembl chr  X:15,715,991...15,867,120 		JBrowse link
G MAP7D2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,327,718...16,423,546
Ensembl chr  X:16,327,968...16,422,772 		JBrowse link
G NHS NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:13,854,950...14,209,085
Ensembl chr  X:14,097,006...14,206,568 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,699,924...15,718,908
Ensembl chr  X:15,700,050...15,718,903 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,279,398...15,365,731
Ensembl chr  X:15,283,120...15,365,565 		JBrowse link
G PPEF1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,111,230...15,251,415
Ensembl chr  X:15,138,350...15,251,228 		JBrowse link
G RAI2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,246,776...14,633,071
Ensembl chr  X:14,244,317...14,309,143 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Coffin syndrome | ClinVar Annotator: match by term: Coffin-Lowry syndrome OMIM
ClinVar		 PMID:5581017 PMID:8955270 PMID:9536098 PMID:9837815 PMID:9887375 More... NCBI chr  X:16,452,401...16,576,854
Ensembl chr  X:16,452,405...16,576,859 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243 		JBrowse link
G SCML1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,210,164...14,222,053 JBrowse link
G SCML2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,715,357...14,823,016
Ensembl chr  X:14,717,606...14,823,413 		JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,887,131...16,229,212
Ensembl chr  X:15,885,069...16,224,183 		JBrowse link
combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy OMIM
ClinVar		 PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 More... NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy ClinVar PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 More... NCBI chr  X:106,708,402...106,723,803
Ensembl chr  X:106,712,398...106,723,404 		JBrowse link
combined T cell and B cell immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Congenital combined immunodeficiency ClinVar PMID:25741868 NCBI chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,358...95,197,304 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:25741868 NCBI chr 6:28,265,130...28,277,649
Ensembl chr 6:28,265,135...28,277,641 		JBrowse link
G CD27 CD27 molecule ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:25741868 PMID:25843314 PMID:28492532 PMID:32499645 NCBI chr 5:64,197,594...64,202,236
Ensembl chr 5:64,196,994...64,202,613 		JBrowse link
G CD40LG CD40 ligand ISO DNA:polymorphism: :p.G219R (human) RGD PMID:21543760 RGD:5490593 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: Combined immunodeficiency, X-linked | ClinVar Annotator: match by term: X-Linked Combined Immunodeficiency Diseases OMIM
ClinVar		 PMID:7557965 PMID:7632950 PMID:7668284 PMID:7883965 PMID:7973658 More... NCBI chr  X:57,143,568...57,151,242
Ensembl chr  X:57,143,570...57,147,256 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:15,370,327...15,518,746
Ensembl chr  X:15,371,805...15,463,619 		JBrowse link
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Congenital bilateral absence of the vas deferens | ClinVar Annotator: match by term: Congenital bilateral absence of vas deferens ClinVar PMID:1381723 PMID:2344617 PMID:7506096 PMID:7539342 PMID:7573058 More... NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950 		JBrowse link
congenital disorder of glycosylation Icc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAGT1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type ICC OMIM
ClinVar		 PMID:24550228 PMID:25135935 PMID:25741868 PMID:28492532 PMID:31036665 NCBI chr  X:61,894,237...61,958,511
Ensembl chr  X:61,894,965...61,958,517 		JBrowse link
congenital disorder of glycosylation Iy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: CDG IY | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y OMIM
ClinVar		 PMID:24218363 PMID:25326635 PMID:25741868 PMID:26264460 NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637 		JBrowse link
congenital disorder of glycosylation type IIm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:43,885,584...43,895,142
Ensembl chr  X:43,885,394...43,895,981 		JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,078,202...42,090,250
Ensembl chr  X:42,078,206...42,090,250 		JBrowse link
G BMP15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:44,613,122...44,620,575
Ensembl chr  X:44,613,122...44,620,575 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,250,449...43,284,458
Ensembl chr  X:43,251,370...43,283,990 		JBrowse link
G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,128,938...43,146,777
Ensembl chr  X:43,134,275...43,146,775 		JBrowse link
G CCDC22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,285,232...43,303,865
Ensembl chr  X:43,285,246...43,303,864 		JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:43,922,729...43,988,939
Ensembl chr  X:43,922,804...43,990,929 		JBrowse link
G CDK16 cyclin dependent kinase 16 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:41,836,268...41,848,580
Ensembl chr  X:41,835,987...41,848,574 		JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,145,754...42,152,879
Ensembl chr  X:42,143,697...42,152,868 		JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,157,980...42,174,964
Ensembl chr  X:42,157,988...42,174,951 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,628...43,811,526 		JBrowse link
G DGKK diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:44,001,172...44,180,142
Ensembl chr  X:44,001,176...44,180,179 		JBrowse link
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,670,592...42,678,571
Ensembl chr  X:42,670,633...42,678,570 		JBrowse link
G ERAS ES cell expressed Ras ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,942,033...42,946,715
Ensembl chr  X:42,941,664...42,946,524 		JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,609,560...42,620,198
Ensembl chr  X:42,609,771...42,620,284 		JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976 		JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,877,034...42,889,285
Ensembl chr  X:42,877,140...42,889,271 		JBrowse link
G GPKOW G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,177,264...43,192,021
Ensembl chr  X:43,177,272...43,191,830 		JBrowse link
G GRIPAP1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,043,613...43,070,363
Ensembl chr  X:43,043,029...43,070,364 		JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887 		JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,032,355...43,043,310
Ensembl chr  X:43,032,358...43,041,760 		JBrowse link
G LOC100513450 P antigen family member 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,489,559...43,496,654
Ensembl chr  X:43,446,109...43,494,094 		JBrowse link
G MAGIX MAGI family member, X-linked ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,206,680...43,212,889
Ensembl chr  X:43,207,062...43,211,635 		JBrowse link
G MIR532 microRNA mir-532 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,705,258...43,705,337
Ensembl chr  X:43,705,258...43,705,337 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:41,770,929...41,773,879
Ensembl chr  X:41,770,941...41,774,245 		JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,001,491...43,029,471
Ensembl chr  X:43,000,231...43,029,468 		JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,947,688...42,952,222
Ensembl chr  X:42,947,692...42,949,024 		JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,993,547...42,998,575
Ensembl chr  X:42,993,551...42,998,573 		JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,215,372...43,218,318
Ensembl chr  X:43,215,283...43,218,316 		JBrowse link
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,653,696...42,669,526
Ensembl chr  X:42,653,789...42,669,517 		JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,328,199...43,344,503
Ensembl chr  X:43,328,274...43,344,013 		JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,976,086...42,981,732
Ensembl chr  X:42,975,413...42,981,724 		JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,147,473...43,150,350 JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,218,271...43,230,368
Ensembl chr  X:43,218,277...43,230,367 		JBrowse link
G RBM10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:41,773,232...41,803,656
Ensembl chr  X:41,773,232...41,803,653 		JBrowse link
G RBM3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,704,019...42,707,587
Ensembl chr  X:42,704,028...42,707,577 		JBrowse link
G SHROOM4 shroom family member 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:44,301,956...44,543,969
Ensembl chr  X:44,332,620...44,543,337 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: CDG IIm | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG OMIM
ClinVar		 PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:25877686 More... NCBI chr  X:42,981,801...42,992,091
Ensembl chr  X:42,981,802...42,992,081 		JBrowse link
G SLC38A5 solute carrier family 38 member 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,590,608...42,601,537
Ensembl chr  X:42,590,607...42,601,502 		JBrowse link
G SPACA5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,476,719...42,478,783
Ensembl chr  X:42,476,587...42,478,921 		JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,797,309...42,811,457
Ensembl chr  X:42,797,828...42,811,461 		JBrowse link
G SYN1 synapsin I ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,090,245...42,142,254
Ensembl chr  X:42,090,246...42,142,224 		JBrowse link
G SYP synaptophysin ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,232,190...43,246,764
Ensembl chr  X:43,232,192...43,246,680 		JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,682,267...42,696,579
Ensembl chr  X:42,682,269...42,696,574 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,100,375...43,116,377
Ensembl chr  X:43,100,032...43,116,227 		JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,970,586...42,976,287
Ensembl chr  X:42,970,108...42,975,955 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:41,810,726...41,832,818
Ensembl chr  X:41,814,101...41,832,812 		JBrowse link
G USP11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:41,851,534...41,866,357
Ensembl chr  X:41,851,602...41,866,355 		JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,553,454...43,557,247
Ensembl chr  X:43,555,005...43,556,321 		JBrowse link
G UXT ubiquitously expressed prefoldin like chaperone ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,176,142...42,184,131
Ensembl chr  X:42,176,145...42,184,079 		JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,774,597...42,793,055
Ensembl chr  X:42,774,588...42,793,055 		JBrowse link
G WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,715,097...42,730,200
Ensembl chr  X:42,722,730...42,730,199 		JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,477...43,156,234 		JBrowse link
G ZNF157 zinc finger protein 157 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:41,905,319...41,921,484
Ensembl chr  X:41,905,226...41,920,880 		JBrowse link
G ZNF182 zinc finger protein 182 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,444,227...42,473,308
Ensembl chr  X:42,444,230...42,473,285 		JBrowse link
G ZNF41 zinc finger protein 41 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:41,931,036...41,984,439
Ensembl chr  X:41,934,977...41,984,595 		JBrowse link
G ZNF630 zinc finger protein 630 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,518,203...42,540,677
Ensembl chr  X:42,518,211...42,540,232 		JBrowse link
G ZNF81 zinc finger protein 81 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,246,548...42,372,191
Ensembl chr  X:42,246,751...42,468,024 		JBrowse link
Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,490,544...111,534,000 JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,796,485...111,917,195
Ensembl chr  X:111,796,485...111,917,174 		JBrowse link
G BRS3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,615,695...111,620,124
Ensembl chr  X:111,615,564...111,620,124 		JBrowse link
G CD40LG CD40 ligand ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,309,989...111,367,900
Ensembl chr  X:111,356,011...111,367,903 		JBrowse link
G GPR101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:112,109,592...112,111,333
Ensembl chr  X:112,108,889...112,113,652 		JBrowse link
G HTATSF1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,624,303...111,643,566
Ensembl chr  X:111,624,631...111,643,323 		JBrowse link
G MAP7D3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,371,538...111,420,230 JBrowse link
G RBMX RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,965,859...111,974,544
Ensembl chr  X:111,962,633...111,974,472 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,176,461...111,233,108
Ensembl chr  X:111,176,495...111,233,099 		JBrowse link
G VGLL1 vestigial like family member 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,662,565...111,684,676
Ensembl chr  X:111,662,621...111,683,504 		JBrowse link
G ZIC3 Zic family member 3 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked | ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked | ClinVar Annotator: match by term: Visceral heterotaxia OMIM
ClinVar		 PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 More... NCBI chr  X:112,592,951...112,605,087
Ensembl chr  X:112,593,301...112,604,814 		JBrowse link
congenital nongoitrous hypothyroidism 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRS4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9 OMIM
ClinVar		 PMID:25741868 PMID:30061370 NCBI chr  X:89,204,348...89,221,463
Ensembl chr  X:89,204,355...89,221,085 		JBrowse link
congenital nystagmus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FRMD7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked OMIM
ClinVar		 PMID:16020310 PMID:17013395 PMID:17768376 PMID:17893669 PMID:17962394 More... NCBI chr  X:108,241,116...108,294,188
Ensembl chr  X:108,240,573...108,294,206 		JBrowse link
congenital stationary night blindness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NYX nyctalopin ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1A | ClinVar Annotator: match by term: NYX-related condition OMIM
ClinVar		 PMID:11062471 PMID:11062472 PMID:16670814 PMID:17392683 PMID:19578023 More... NCBI chr  X:37,080,197...37,105,513
Ensembl chr  X:37,080,278...37,105,510 		JBrowse link
congenital stationary night blindness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Congenital stationary night blindness 2A | ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2 OMIM
ClinVar		 PMID:9529339 PMID:9662399 PMID:9662400 PMID:10900517 PMID:11281458 More... NCBI chr  X:43,250,449...43,284,458
Ensembl chr  X:43,251,370...43,283,990 		JBrowse link
Cornelia de Lange syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAS2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:47,871,519...47,896,041
Ensembl chr  X:47,871,523...47,896,000 		JBrowse link
G APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:47,862,682...47,870,579
Ensembl chr  X:47,862,667...47,871,184 		JBrowse link
G FAM120C family with sequence similarity 120 member C ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:46,777,904...46,904,232
Ensembl chr  X:46,777,923...46,904,579 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:47,191,838...47,231,656
Ensembl chr  X:47,192,427...47,231,342 		JBrowse link
G GNL3L G protein nucleolar 3 like ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:47,256,467...47,284,520
Ensembl chr  X:47,256,505...47,284,520 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,548...46,220,883 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 ClinVar PMID:19052029 PMID:23683030 PMID:26386245 PMID:27334371 PMID:28166369 More... NCBI chr  X:46,011,386...46,094,978
Ensembl chr  X:46,011,388...46,094,817 		JBrowse link
G ITIH6 inter-alpha-trypsin inhibitor heavy chain family member 6 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:47,537,909...47,584,419 JBrowse link
G KDM5C lysine demethylase 5C ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:45,968,812...46,003,215
Ensembl chr  X:45,968,814...46,003,215 		JBrowse link
G MIR98 microRNA mir-98 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:46,302,381...46,302,460
Ensembl chr  X:46,302,381...46,302,460 		JBrowse link
G MIRLET7F-1 microRNA let-7f-1 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:46,303,245...46,303,327
Ensembl chr  X:46,303,245...46,303,327 		JBrowse link
G PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:47,771,751...47,859,079
Ensembl chr  X:47,765,154...47,859,061 		JBrowse link
G PHF8 PHD finger protein 8 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:46,648,164...46,761,192
Ensembl chr  X:46,648,168...46,759,239 		JBrowse link
G RIBC1 RIB43A domain with coiled-coils 1 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:46,202,213...46,218,691
Ensembl chr  X:46,208,669...46,218,382 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 | ClinVar Annotator: match by term: SMC1A-related cohesinopathy OMIM
ClinVar		 PMID:9536098 PMID:11532960 PMID:11877377 PMID:16199547 PMID:16273072 More... NCBI chr  X:46,143,738...46,202,187
Ensembl chr  X:46,144,920...46,218,543 		JBrowse link
G TRO trophinin ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:47,759,334...47,772,014
Ensembl chr  X:47,759,334...47,772,014 		JBrowse link
G TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:47,186,610...47,192,465
Ensembl chr  X:47,186,643...47,192,452 		JBrowse link
G WNK3 WNK lysine deficient protein kinase 3 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 More... NCBI chr  X:46,923,587...47,096,265
Ensembl chr  X:46,930,184...47,096,022 		JBrowse link
Cornelia de Lange syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDAC8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 | ClinVar Annotator: match by term: HDAC8-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19605684 More... NCBI chr  X:58,210,182...58,450,681
Ensembl chr  X:58,210,192...58,450,573 		JBrowse link
G LOC100525798 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048 NCBI chr  X:58,969,577...59,176,807
Ensembl chr  X:58,966,830...58,972,091 		JBrowse link
G PABPC1L2A poly(A) binding protein cytoplasmic 1 like 2A ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048 NCBI chr  X:58,851,255...58,852,978 JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048 PMID:25741868 NCBI chr  X:58,456,097...58,583,216
Ensembl chr  X:58,455,939...58,583,216 		JBrowse link
corpus callosum agenesis-abnormal genitalia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARX aristaless related homeobox ISO ClinVar Annotator: match by term: Corpus callosum agenesis-abnormal genitalia syndrome OMIM
ClinVar		 PMID:1605226 PMID:14722918 PMID:18414213 PMID:22252899 PMID:25741868 More... NCBI chr  X:21,067,631...21,079,850
Ensembl chr  X:21,067,621...21,079,723 		JBrowse link
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGBP1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr  X:56,173,773...56,206,121 JBrowse link
craniofrontonasal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265 		JBrowse link
G EFNB1 ephrin B1 ISO ClinVar Annotator: match by term: Craniofrontonasal syndrome OMIM
ClinVar		 PMID:1468459 PMID:6627724 PMID:9536098 PMID:15124102 PMID:15166289 More... NCBI chr  X:54,947,339...54,961,403
Ensembl chr  X:54,948,342...54,973,629 		JBrowse link
G OPHN1 oligophrenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:54,056,504...54,617,045
Ensembl chr  X:54,055,092...54,616,959 		JBrowse link
G PJA1 praja ring finger ubiquitin ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:55,274,294...55,280,583
Ensembl chr  X:55,274,298...55,280,530 		JBrowse link
Danon disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,234,469...98,255,396 JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,514,286...98,535,154
Ensembl chr  X:98,514,305...98,535,149 		JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Danon disease | ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb | ClinVar Annotator: match by term: Glycogen storage cardiomyopathy OMIM
ClinVar		 PMID:3087571 PMID:6408499 PMID:6450334 PMID:8504498 PMID:9536098 More... NCBI chr  X:98,586,718...98,623,939
Ensembl chr  X:98,556,710...98,623,940 		JBrowse link
G LOC102157657 uncharacterized LOC102157657 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,304,777...98,310,448 JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,219,717...98,223,873
Ensembl chr  X:98,219,988...98,223,868 		JBrowse link
G NKAP NFKB activating protein ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,233,504...98,276,839
Ensembl chr  X:98,256,632...98,276,773 		JBrowse link
G RNF113A ring finger protein 113A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,218,689...98,219,931
Ensembl chr  X:98,218,565...98,219,773 		JBrowse link
G TMEM255A transmembrane protein 255A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,412,286...98,464,683
Ensembl chr  X:98,413,949...98,464,660 		JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,184,646...98,206,135
Ensembl chr  X:98,182,272...98,206,096 		JBrowse link
G ZBTB33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:98,370,137...98,413,686
Ensembl chr  X:98,405,319...98,414,279 		JBrowse link
deafness, dystonia, and cerebral hypomyelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ClinVar PMID:25741868 NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome OMIM
ClinVar		 PMID:24011989 PMID:25741868 PMID:28492532 PMID:35887114 NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ClinVar PMID:25741868 NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ClinVar PMID:24011989 NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ClinVar PMID:25741868 NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
Dent disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Dent disease | ClinVar Annotator: match by term: Dent's disease ClinVar PMID:11136179 PMID:15719255 PMID:15814539 PMID:15895257 PMID:16822791 More... NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,628...43,811,526 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Dent disease ClinVar PMID:15108291 PMID:21031565 PMID:21971085 PMID:27398910 PMID:29300302 NCBI chr  X:106,124,991...106,188,066
Ensembl chr  X:106,135,431...106,190,110 		JBrowse link
Dent Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED | ClinVar Annotator: match by term: Nephrolithiasis 2 OMIM
ClinVar		 PMID:7874126 PMID:7915957 PMID:8559248 PMID:8950885 PMID:9062355 More... NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,628...43,811,526 		JBrowse link
G MIR500 microRNA mir-500 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:43,711,254...43,711,333
Ensembl chr  X:43,711,254...43,711,333 		JBrowse link
G MIR532 microRNA mir-532 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:43,705,258...43,705,337
Ensembl chr  X:43,705,258...43,705,337 		JBrowse link
Dent Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INPP5B inositol polyphosphate-5-phosphatase B ISO ClinVar Annotator: match by term: Dent disease type 2 ClinVar PMID:28018608 NCBI chr 6:93,885,471...93,944,398
Ensembl chr 6:93,885,465...93,944,342 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Dent disease type 2 OMIM
ClinVar		 PMID:1321346 PMID:8504307 PMID:15627218 PMID:16381338 PMID:17162149 More... NCBI chr  X:106,124,991...106,188,066
Ensembl chr  X:106,135,431...106,190,110 		JBrowse link
developmental and epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,689,133...39,732,466
Ensembl chr 3:39,698,895...39,732,978 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:23953072 PMID:25741868 PMID:28492532 NCBI chr 2:129,663,226...129,709,728
Ensembl chr 2:129,662,969...129,709,705 		JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:91,644,586...91,708,695
Ensembl chr  X:91,650,858...91,708,689 		JBrowse link
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:35638461 NCBI chr  X:50,159,912...50,578,020 JBrowse link
G ARX aristaless related homeobox ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome OMIM
ClinVar		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 More... NCBI chr  X:21,067,631...21,079,850
Ensembl chr  X:21,067,621...21,079,723 		JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,780,707...39,782,478
Ensembl chr 3:39,780,940...39,782,466 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:32820246 PMID:33497533 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,492 		JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,794,400...39,811,381
Ensembl chr 3:39,794,293...39,811,009 		JBrowse link
G CCNF cyclin F ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855 		JBrowse link
G CFAP96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 NCBI chr15:46,470,680...46,612,173
Ensembl chr15:46,470,765...46,490,006 		JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 7:85,980,759...86,107,886
Ensembl chr 7:85,983,837...86,106,938 		JBrowse link
G CSNK1E casein kinase 1 epsilon ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr 5:9,594,461...9,620,483
Ensembl chr 5:9,594,934...9,620,476 		JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,757,725...39,761,497
Ensembl chr 3:39,757,296...39,761,080 		JBrowse link
G DNM1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:30097719 PMID:32909139 PMID:36413998 NCBI chr 1:268,653,045...268,702,233
Ensembl chr 1:268,653,070...268,702,222 		JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,757,679...39,773,024
Ensembl chr 3:39,761,356...39,772,262 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,750,742...39,758,516
Ensembl chr 3:39,750,742...39,758,516 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 1:140,566,443...140,906,516
Ensembl chr 1:140,566,540...140,905,623 		JBrowse link
G GNAO1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 6:29,416,574...29,592,874
Ensembl chr 6:29,416,708...29,592,516 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr16:29,439,294...29,808,855
Ensembl chr16:29,439,264...29,808,993 		JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr10:17,475,266...17,497,060
Ensembl chr10:17,477,902...17,497,030 		JBrowse link
G ITPA inosine triphosphatase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:26224535 PMID:28492532 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784 		JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 More... NCBI chr 4:109,534,923...109,570,172
Ensembl chr 4:109,557,973...109,560,998 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,281...62,506,424 		JBrowse link
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:9536098 PMID:17576681 PMID:24369382 PMID:24456803 PMID:25411445 More... NCBI chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,413...8,485,030 		JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,778,746...39,786,206
Ensembl chr 3:39,778,754...39,788,285 		JBrowse link
G NAPB NSF attachment protein beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:33189936 NCBI chr17:30,361,439...30,396,105
Ensembl chr17:30,359,420...30,396,083 		JBrowse link
G NRXN2 neurexin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr 2:7,454,771...7,554,180
Ensembl chr 2:7,478,750...7,515,943 		JBrowse link
G NTN3 netrin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,572,430...39,575,717
Ensembl chr 3:39,572,531...39,575,170 		JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:20186691 PMID:23733235 PMID:25034272 PMID:25741868 PMID:25741916 More...
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:82,031,365...82,153,159
Ensembl chr  X:82,036,199...82,151,652 		JBrowse link
G PCYT1B phosphate cytidylyltransferase 1B, choline ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:20,605,769...20,743,081
Ensembl chr  X:20,605,945...20,743,134 		JBrowse link
G PDK3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:20,486,205...20,598,492
Ensembl chr  X:20,486,341...20,602,664 		JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,776,815...39,779,669
Ensembl chr 3:39,762,608...39,778,011 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455 		JBrowse link
G PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr17:17,007,197...17,745,314
Ensembl chr17:17,007,261...17,745,313 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:20,756,674...21,064,265
Ensembl chr  X:20,756,725...21,062,175 		JBrowse link
G RAB26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,831,981...39,837,510
Ensembl chr 3:39,831,981...39,837,515 		JBrowse link
G REPS2 RALBP1 associated Eps domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:13,413,362...13,658,907
Ensembl chr  X:13,412,838...13,658,902 		JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,739,058...39,749,600
Ensembl chr 3:39,739,308...39,750,005 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:11940708 PMID:12083760 PMID:16458823 PMID:17347258 PMID:18804930 More... NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,938...78,098,383 		JBrowse link
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 6:167,363,348...167,596,892
Ensembl chr 6:167,363,347...167,595,835 		JBrowse link
G SYNJ1 synaptojanin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:196,230,101...196,330,512
Ensembl chr13:196,230,104...196,330,384 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:167,811,589...167,861,321
Ensembl chr 6:167,811,598...167,861,583 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms		 ClinVar PMID:3402014 PMID:9536098 PMID:10574461 PMID:10741954 PMID:16199547 More... NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277 		JBrowse link
G TEDC2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,580,181...39,584,414
Ensembl chr 3:39,580,199...39,584,380 		JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,811,803...39,828,450
Ensembl chr 3:39,810,606...39,828,395 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 NCBI chr15:46,448,918...46,470,616
Ensembl chr15:46,448,904...46,470,572 		JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms ClinVar PMID:9536098 PMID:11572989 PMID:11956080 PMID:16199547 PMID:17576681 More... NCBI chr 6:8,910,209...9,871,048
Ensembl chr 6:8,910,138...9,871,053 		JBrowse link
developmental and epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,370,327...15,518,746
Ensembl chr  X:15,371,805...15,463,619 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:25741868 NCBI chr13:146,128,664...146,165,269
Ensembl chr13:146,121,759...146,192,442 		JBrowse link
G BCLAF3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,252,407...16,312,426
Ensembl chr  X:16,252,420...16,312,439 		JBrowse link
G BEND2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:14,635,795...14,703,934 JBrowse link
G CDKL5 cyclin dependent kinase like 5 severity ISO ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: CDKL5-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 | ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
DNA:mutations:cds:		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:10533068 PMID:15492925 PMID:15499549 PMID:15689447 More... RGD:12791015 NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855 		JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,429,625...16,449,581
Ensembl chr  X:16,429,628...16,449,556 		JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,716,898...15,867,377
Ensembl chr  X:15,715,991...15,867,120 		JBrowse link
G MAP7D2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,327,718...16,423,546
Ensembl chr  X:16,327,968...16,422,772 		JBrowse link
G NHS NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:13,854,950...14,209,085
Ensembl chr  X:14,097,006...14,206,568 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,699,924...15,718,908
Ensembl chr  X:15,700,050...15,718,903 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,279,398...15,365,731
Ensembl chr  X:15,283,120...15,365,565 		JBrowse link
G PPEF1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,111,230...15,251,415
Ensembl chr  X:15,138,350...15,251,228 		JBrowse link
G RAI2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:14,246,776...14,633,071
Ensembl chr  X:14,244,317...14,309,143 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,452,401...16,576,854
Ensembl chr  X:16,452,405...16,576,859 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:9536098 PMID:10533068 PMID:15499549 PMID:16813600 PMID:17304053 More... NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243 		JBrowse link
G SCML1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:14,210,164...14,222,053 JBrowse link
G SCML2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:14,715,357...14,823,016
Ensembl chr  X:14,717,606...14,823,413 		JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,887,131...16,229,212
Ensembl chr  X:15,885,069...16,224,183 		JBrowse link
G SNAP25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:25741868 NCBI chr17:19,096,115...19,227,580
Ensembl chr17:19,141,464...19,227,576 		JBrowse link
developmental and epileptic encephalopathy 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22492991 PMID:23033978 More... NCBI chr  X:91,644,586...91,708,695
Ensembl chr  X:91,650,858...91,708,689 		JBrowse link
G CAPN6 calpain 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:91,258,696...91,288,128
Ensembl chr  X:91,258,688...91,288,077 		JBrowse link
G CHRDL1 chordin like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:90,703,422...90,827,216
Ensembl chr  X:90,703,428...90,827,210 		JBrowse link
G DCX doublecortin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:91,317,671...91,644,572
Ensembl chr  X:91,323,764...91,644,567 		JBrowse link
G PAK3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:90,941,976...91,244,331
Ensembl chr  X:90,942,077...91,238,565 		JBrowse link
developmental and epileptic encephalopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMER1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:50,842,049...50,864,105
Ensembl chr  X:50,844,683...50,864,032 		JBrowse link
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 OMIM
ClinVar		 PMID:9536098 PMID:15215304 PMID:16199547 PMID:16616186 PMID:17576681 More... NCBI chr  X:50,159,912...50,578,020 JBrowse link
G ASB12 ankyrin repeat and SOCS box containing 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:50,877,158...50,883,739
Ensembl chr  X:50,877,166...50,878,674 		JBrowse link
G MTMR8 myotubularin related protein 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:50,931,199...51,077,796
Ensembl chr  X:50,935,136...51,077,766 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:51,157,102...51,193,993
Ensembl chr  X:51,157,105...51,193,980 		JBrowse link
developmental and epileptic encephalopathy 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMC1A structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 85, with or without midline brain defects | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 85, WITH OR WITHOUT MIDLINE BRAIN DEFECTS OMIM
ClinVar		 PMID:17273969 PMID:19701948 PMID:25741868 PMID:25741916 PMID:26358754 More... NCBI chr  X:46,143,738...46,202,187
Ensembl chr  X:46,144,920...46,218,543 		JBrowse link
developmental and epileptic encephalopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL13A ADP ribosylation factor like GTPase 13A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:82,670,773...82,681,890
Ensembl chr  X:82,671,561...82,684,002 		JBrowse link
G ARMCX1 armadillo repeat containing X-linked 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:83,132,775...83,136,924
Ensembl chr  X:83,132,792...83,136,917 		JBrowse link
G ARMCX2 armadillo repeat containing X-linked 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:83,213,939...83,218,601
Ensembl chr  X:83,213,947...83,224,391 		JBrowse link
G ARMCX3 armadillo repeat containing X-linked 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:83,187,939...83,192,693
Ensembl chr  X:83,187,979...83,197,532 		JBrowse link
G ARMCX4 armadillo repeat containing X-linked 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:83,092,592...83,130,725
Ensembl chr  X:83,092,697...83,103,834 		JBrowse link
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573 		JBrowse link
G CENPI centromere protein I ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:82,776,375...82,826,651
Ensembl chr  X:82,776,447...82,825,655 		JBrowse link
G CSTF2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:21053371 PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:82,508,739...82,540,861
Ensembl chr  X:82,508,736...82,540,863 		JBrowse link
G DIAPH2 diaphanous related formin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chr  X:78,602,385...79,520,441
Ensembl chr  X:78,602,390...79,520,428 		JBrowse link
G DRP2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:82,871,901...82,925,889
Ensembl chr  X:82,872,197...82,925,883 		JBrowse link
G FAM133A family with sequence similarity 133 member A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chr  X:76,149,152...76,181,971
Ensembl chr  X:76,149,260...76,184,095 		JBrowse link
G GLA galactosidase alpha ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,570 		JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:83,032,525...83,038,369
Ensembl chr  X:83,032,621...83,038,361 		JBrowse link
G LOC100153087 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:83,338,757...83,361,973 JBrowse link
G LOC100518351 polyadenylate-binding protein 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chr  X:74,141,707...74,145,941
Ensembl chr  X:74,142,566...74,145,719 		JBrowse link
G LOC100520992 protein ARMCX6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:83,179,741...83,182,711
Ensembl chr  X:83,179,753...83,182,679 		JBrowse link
G NAP1L3 nucleosome assembly protein 1 like 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chr  X:76,147,190...76,149,848
Ensembl chr  X:76,147,202...76,149,852 		JBrowse link
G NOX1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:21053371 PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:82,540,664...82,575,811
Ensembl chr  X:82,540,667...82,586,532 		JBrowse link
G PCDH11X protocadherin 11 X-linked ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chr  X:74,462,811...75,191,930 JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 | ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME OMIM
ClinVar		 PMID:2267240 PMID:5116697 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr  X:82,031,365...82,153,159
Ensembl chr  X:82,036,199...82,151,652 		JBrowse link
G RPL36A ribosomal protein L36a ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:83,018,305...83,022,285
Ensembl chr  X:83,018,141...83,022,283 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:21053371 PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:82,336,741...82,363,868
Ensembl chr  X:82,336,744...82,363,867 		JBrowse link
G SYTL4 synaptotagmin like 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:21053371 PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:82,367,546...82,437,439
Ensembl chr  X:82,367,549...82,437,401 		JBrowse link
G TAF7L TATA-box binding protein associated factor 7 like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:82,930,258...82,951,065
Ensembl chr  X:82,930,266...82,951,224 		JBrowse link
G TGIF2LX TGFB induced factor homeobox 2 like X-linked ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chr  X:72,894,181...72,894,630 JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:82,978,128...82,981,038
Ensembl chr  X:82,974,270...82,980,769 		JBrowse link
G TMEM35A transmembrane protein 35A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:82,761,552...82,774,952
Ensembl chr  X:82,761,589...82,774,951 		JBrowse link
G TNMD tenomodulin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:21053371 PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:82,269,323...82,292,083
Ensembl chr  X:82,269,239...82,292,246 		JBrowse link
G TRMT2B tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:82,638,456...82,741,659
Ensembl chr  X:82,690,392...82,735,521 		JBrowse link
G TSPAN6 tetraspanin 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:21053371 PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:82,323,634...82,328,919
Ensembl chr  X:82,323,624...82,328,903 		JBrowse link
G XKRX XK related X-linked ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chr  X:82,614,592...82,630,188
Ensembl chr  X:82,610,758...82,630,310 		JBrowse link
developmental and epileptic encephalopathy 90 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF13 fibroblast growth factor 13 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 90 OMIM
ClinVar		 PMID:25741868 PMID:33245860 PMID:34871784 NCBI chr  X:113,460,191...113,955,691
Ensembl chr  X:113,460,191...113,932,715 		JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis OMIM
ClinVar		 PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:47,186,610...47,192,465
Ensembl chr  X:47,186,643...47,192,452 		JBrowse link
dilated cardiomyopathy 1LL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,579,291...63,593,429
Ensembl chr 6:63,579,304...63,593,435 		JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,366,017...63,398,311
Ensembl chr 6:63,365,983...63,398,309 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,678,757...63,686,409 JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,656,120...63,657,568
Ensembl chr 6:63,656,119...63,657,472 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112 		JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,548,862...63,555,991
Ensembl chr 6:63,548,864...63,553,332 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,970,359...63,971,973 JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,659,053...63,668,077
Ensembl chr 6:63,659,054...63,668,047 		JBrowse link
G CDK11 cyclin dependent kinase 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,804,914...63,819,960 JBrowse link
G CFAP74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,976,011...64,038,899
Ensembl chr 6:63,976,346...64,024,562 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,607,991...63,612,325 JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913 		JBrowse link
G FAAP20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,160,760...64,169,663 JBrowse link
G FNDC10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,762,059...63,765,483
Ensembl chr 6:63,764,815...63,765,483 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505 		JBrowse link
G HES5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,409,110...64,410,541
Ensembl chr 6:64,408,956...64,410,881 		JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,596,809...63,607,915
Ensembl chr 6:63,596,803...63,607,921 		JBrowse link
G LOC100525876 ATPase family AAA domain-containing protein 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,573 		JBrowse link
G LOC100624218 MORN repeat-containing protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,787,200...63,800,425
Ensembl chr 6:63,787,201...63,800,423 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,436,778...64,470,888
Ensembl chr 6:64,436,642...64,472,759 		JBrowse link
G MMP23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,801,668...63,804,275
Ensembl chr 6:63,801,965...63,805,046 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,670,750...63,675,834
Ensembl chr 6:63,670,755...63,675,839 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,630,936...63,635,623
Ensembl chr 6:63,630,938...63,635,456 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,846,650...63,864,137
Ensembl chr 6:63,846,655...63,863,946 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,393,092...64,407,443
Ensembl chr 6:64,393,102...64,407,448 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,311,743...64,317,693 JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,325,918...64,392,070
Ensembl chr 6:64,325,952...64,392,068 		JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1LL | ClinVar Annotator: match by term: Left ventricular noncompaction 8 | ClinVar Annotator: match by term: PRDM16-related condition | ClinVar Annotator: match by term: PRDM16-related congenital heart disease OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23768516 PMID:24033266 More... NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,577...64,163,472 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,432,187...64,435,328
Ensembl chr 6:64,432,148...64,435,320 		JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,593,539...63,596,921
Ensembl chr 6:63,593,959...63,599,019 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,301,139...64,311,526
Ensembl chr 6:64,301,199...64,311,783 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,413,080...63,445,277
Ensembl chr 6:63,413,086...63,414,357 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,568,171...63,578,623 JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,544,944 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560 		JBrowse link
G SLC35E2 solute carrier family 35 member E2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,820,804...63,842,400
Ensembl chr 6:63,820,812...63,835,561 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,728,318...63,757,460
Ensembl chr 6:63,728,325...63,755,163 		JBrowse link
G TAS1R3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,613,536...63,617,831
Ensembl chr 6:63,607,990...63,617,809 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,721,655...63,727,457
Ensembl chr 6:63,721,656...63,727,526 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,969,438...63,974,312
Ensembl chr 6:63,969,440...63,974,286 		JBrowse link
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,686,542...63,689,298
Ensembl chr 6:63,686,546...63,688,456 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,478,117...64,499,034
Ensembl chr 6:64,478,408...64,499,986 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,494,759...63,513,884
Ensembl chr 6:63,497,597...63,511,918 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,556,134...63,568,080
Ensembl chr 6:63,555,488...63,568,017 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287 		JBrowse link
dilated cardiomyopathy 1MM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10 OMIM
ClinVar		 PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:950554 More... NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104 		JBrowse link
dilated cardiomyopathy 1S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DES desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:29253866 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,980,601...115,021,305 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 PMID:29253866 PMID:32826072 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:11897440 PMID:15219508 PMID:15539782 PMID:16061563 PMID:16537768 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Biventricular noncompaction cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy 1S | ClinVar Annotator: match by term: Left ventricular noncompaction 5 OMIM
ClinVar		 PMID:564455 PMID:737223 PMID:901918 PMID:1218377 PMID:1423936 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:18533079 PMID:20173211 PMID:21310275 PMID:22958901 PMID:23299917 More... NCBI chr14:32,205,953...32,213,848
Ensembl chr14:32,205,273...32,213,722 		JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:19881492 PMID:20970104 PMID:23299917 PMID:24033266 PMID:24503780 More... NCBI chr 6:135,315,000...135,382,911
Ensembl chr 6:135,318,754...135,382,882 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:24033266 More... NCBI chr14:121,058,896...121,269,824
Ensembl chr14:121,210,666...121,269,823 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:18572189 PMID:19439414 PMID:20215591 PMID:20459070 PMID:21056975 More... NCBI chr13:34,591,571...34,594,320
Ensembl chr13:34,591,386...34,594,337 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:25589632 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:24033266 PMID:24062880 PMID:24503780 PMID:25741868 PMID:27532257 More... NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,173...76,811,869 		JBrowse link
dilated cardiomyopathy 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK5RAP1 CDK5 regulatory subunit associated protein 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar PMID:25741868 PMID:28492532 NCBI chr17:36,917,276...36,946,232
Ensembl chr17:36,915,953...36,946,187 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B OMIM
ClinVar		 PMID:1549596 PMID:1644931 PMID:2691353 PMID:7581396 PMID:7599638 More... NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar PMID:25741868 NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 3B ClinVar NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
Dilated Cardiomyopathy with Left Ventricular Noncompaction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,547 		JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29447731 PMID:31110529 PMID:31333075 More... NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778 		JBrowse link
G ALPK3 alpha kinase 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 7:52,667,342...52,718,775
Ensembl chr 7:52,667,362...52,718,757 		JBrowse link
G C3H2orf49 chromosome 3 C2orf49 homolog ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:49,454,558...49,465,442
Ensembl chr 3:49,454,562...49,465,447 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G CTNNA3 catenin alpha 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr14:69,195,231...70,974,543
Ensembl chr14:69,195,961...70,938,204 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:27697855 PMID:27930701 PMID:28492532 More... NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19937601 PMID:25741868 PMID:28492532 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31333075 More... NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,243...115,454,340 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:20129281 PMID:20152563 PMID:21606396 PMID:21636032 PMID:21723241 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:118,333,069...118,753,516
Ensembl chr 6:118,333,733...118,753,512 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31333075 More... NCBI chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604 		JBrowse link
G FHL2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:49,389,900...49,448,459
Ensembl chr 3:49,363,555...49,467,527 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:17646576 PMID:20662977 PMID:24569893 PMID:25741868 PMID:26688388 More... NCBI chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,283...60,050,689 		JBrowse link
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:34814702 NCBI chr17:46,590,302...46,665,326 JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:26220970 PMID:28492532 PMID:29334134 More... NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28491533 More... NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:925171 PMID:12818575 PMID:18258667 PMID:19574547 PMID:20624503 More... NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:1430197 PMID:1430834 PMID:1552912 PMID:7731997 PMID:8533830 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G MYLK2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr17:35,499,828...35,513,096
Ensembl chr17:35,499,887...35,513,093 		JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29447731 PMID:30847666 PMID:31110529 More... NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,299,505...71,387,025 		JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:34540771 NCBI chr 6:135,315,000...135,382,911
Ensembl chr 6:135,318,754...135,382,882 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:15489853 PMID:25741868 PMID:28492532 PMID:34540771 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:23768516 PMID:25741868 PMID:31333075 PMID:31568572 PMID:34540771 NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:34540771 NCBI chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829 		JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:27496873 PMID:27531932 More... NCBI chr14:121,058,896...121,269,824
Ensembl chr14:121,210,666...121,269,823 		JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction | ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:12354768 PMID:12820704 PMID:15466642 PMID:15840476 PMID:16540748 More... NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19438153 PMID:19700766 PMID:20530761 PMID:24033266 PMID:24342716 More... NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:30847666 PMID:31983221 NCBI chr12:22,651,666...22,652,904
Ensembl chr12:22,651,664...22,653,722 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 PMID:37477868 NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr13:34,591,571...34,594,320
Ensembl chr13:34,591,386...34,594,337 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:7592712 PMID:15774859 PMID:17010989 PMID:17872964 PMID:23690394 More... NCBI chr 6:59,366,828...59,377,490
Ensembl chr 6:59,371,080...59,377,734
Ensembl chr 6:59,371,080...59,377,734 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:2025668 PMID:7898523 PMID:9536098 PMID:12818575 PMID:12881443 More... NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 PMID:34540771 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:18948003 PMID:22335739 PMID:23975875 PMID:24033266 PMID:24395473 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction ClinVar PMID:11815424 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,173...76,811,869 		JBrowse link
DNA ligase IV deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIG4 DNA ligase 4 ISO ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders | ClinVar Annotator: match by term: Lig4 syndrome OMIM
ClinVar		 PMID:1779494 PMID:2489227 PMID:2523926 PMID:5333585 PMID:7063650 More... NCBI chr11:75,537,027...75,547,711
Ensembl chr11:75,537,036...75,547,716 		JBrowse link
Duchenne muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP6 A-kinase anchoring protein 6 ISO mRNA:decreased expression:heart RGD PMID:14511675 RGD:14349026 NCBI chr 7:66,913,541...67,462,147
Ensembl chr 7:66,915,881...67,375,177 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CD4 CD4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 5:63,892,129...63,918,547
Ensembl chr 5:63,892,137...63,918,519 		JBrowse link
G CDK5RAP1 CDK5 regulatory subunit associated protein 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr17:36,917,276...36,946,232
Ensembl chr17:36,915,953...36,946,187 		JBrowse link
G DAG1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle
protein:decreased expression:skeletal muscle		 RGD PMID:7630355 PMID:11445638 PMID:15833425 RGD:11073211 RGD:11537476 RGD:11552581 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
G DMD dystrophin treatment ISO
IAGP		 ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy
Muscular dystrophy, Duchenne type		 OMIM
ClinVar
OMIA
RGD		 PMID:1301174 PMID:1301934 PMID:1307253 PMID:1363782 PMID:1383546 More... RGD:12880007 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G FTHL17 ferritin heavy chain like 17 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:26,955,098...26,956,111
Ensembl chr  X:26,955,098...26,955,649 		JBrowse link
G GK glycerol kinase ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:26,470,422...26,558,892 JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:24,408,092...25,811,129
Ensembl chr  X:24,409,327...25,806,680 		JBrowse link
G ITGA7 integrin subunit alpha 7 treatment ISO RGD PMID:23319059 RGD:13601981 NCBI chr 5:21,126,565...21,150,875
Ensembl chr 5:21,126,571...21,148,776 		JBrowse link
G LOC100154079 melanoma-associated antigen B1-like ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:26,044,526...26,076,729 JBrowse link
G LOC100515809 DDB1- and CUL4-associated factor 8 pseudogene ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:22510846 PMID:23453023 PMID:24504883 PMID:28492532 NCBI chr  X:23,567,816...23,570,915 JBrowse link
G LOC102159844 melanoma-associated antigen B4-like ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:25,895,424...26,030,203 JBrowse link
G LOC110255254 melanoma-associated antigen B10-like ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:22510846 PMID:23453023 PMID:24504883 PMID:28492532 NCBI chr  X:23,618,483...23,621,851
Ensembl chr  X:23,620,303...23,621,557 		JBrowse link
G MAGEB3 MAGE family member B3 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:26,044,502...26,055,412
Ensembl chr  X:26,053,954...26,054,997 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:23977226 RGD:13204809 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:9542584 RGD:13825135 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:26,117,874...26,122,951
Ensembl chr  X:26,117,874...26,122,951 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G PLA2G6 phospholipase A2 group VI ISO RGD PMID:22934738 RGD:12910703 NCBI chr 5:9,713,809...9,777,921
Ensembl chr 5:9,713,873...9,777,918 		JBrowse link
G POSTN periostin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,224,959...13,258,978 		JBrowse link
G STX1A syntaxin 1A ISO RGD PMID:26604869 RGD:12903957 NCBI chr 3:10,974,127...10,991,846
Ensembl chr 3:10,974,127...10,991,873 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO RGD PMID:26604869 RGD:12903957 NCBI chr 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778 		JBrowse link
G TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:26,632,547...26,729,039
Ensembl chr  X:26,632,551...26,729,051 		JBrowse link
G TASL TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:26,363,808...26,384,933
Ensembl chr  X:26,365,027...26,384,760 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15616792 RGD:1580161 NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834 		JBrowse link
G UTRN utrophin ISO RGD PMID:9288751 RGD:737706 NCBI chr 1:20,514,264...21,047,927
Ensembl chr 1:20,514,260...21,048,484 		JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia OMIM
ClinVar		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... NCBI chr  X:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265 		JBrowse link
G EDA2R ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:52,522,231...52,533,080 JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia OMIM
ClinVar		 PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
Erythropoietic Protoporphyria, X-Linked Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAS2 5'-aminolevulinate synthase 2 disease_progression ISO ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED | ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant
DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human)		 OMIM
ClinVar
RGD		 PMID:18760763 PMID:21653323 PMID:23263862 PMID:23409301 PMID:25741868 More... RGD:18337287 NCBI chr  X:47,871,519...47,896,041
Ensembl chr  X:47,871,523...47,896,000 		JBrowse link
Fabry disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 treatment ISO RGD PMID:20941593 RGD:12879402 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G AGT angiotensinogen severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833 		JBrowse link
G AR androgen receptor treatment ISO RGD PMID:25701874 RGD:11576234 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573 		JBrowse link
G DRP2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:82,871,901...82,925,889
Ensembl chr  X:82,872,197...82,925,883 		JBrowse link
G GLA galactosidase alpha ISO ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease OMIM
ClinVar		 PMID:105759 PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 More... NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,570 		JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:7531540 PMID:11889412 PMID:15776423 PMID:17532296 PMID:17555407 More... NCBI chr  X:83,032,525...83,038,369
Ensembl chr  X:83,032,621...83,038,361 		JBrowse link
G IL1A interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G MYLK2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:28492532 NCBI chr17:35,499,828...35,513,096
Ensembl chr17:35,499,887...35,513,093 		JBrowse link
G RPL36A ribosomal protein L36a ISO ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease ClinVar PMID:105759 PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 More... NCBI chr  X:83,018,305...83,022,285
Ensembl chr  X:83,018,141...83,022,283 		JBrowse link
G TAF7L TATA-box binding protein associated factor 7 like ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:82,930,258...82,951,065
Ensembl chr  X:82,930,266...82,951,224 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:82,978,128...82,981,038
Ensembl chr  X:82,974,270...82,980,769 		JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		JBrowse link
Fabry Disease, Cardiac Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLA galactosidase alpha ISO ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:105759 PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 More... NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,570 		JBrowse link
G RPL36A ribosomal protein L36a ISO ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:105759 PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 More... NCBI chr  X:83,018,305...83,022,285
Ensembl chr  X:83,018,141...83,022,283 		JBrowse link
Factor V and Factor VIII, Combined Deficiency of, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2 OMIM
ClinVar		 PMID:12717434 PMID:13229969 PMID:18391077 PMID:25741868 PMID:25741909 More... NCBI chr 3:93,620,921...93,633,018
Ensembl chr 3:93,620,936...93,633,015 		JBrowse link
factor VIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		JBrowse link
G C5 complement C5 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 1:260,995,662...261,088,868
Ensembl chr 1:260,995,668...261,133,483 		JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:11776297 RGD:11352263 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G CFB complement factor B ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179 		JBrowse link
G CFP complement factor properdin ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr  X:42,145,754...42,152,879
Ensembl chr  X:42,143,697...42,152,868 		JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137 		JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Hemophilia ClinVar PMID:25741868 NCBI chr11:78,512,389...78,518,668
Ensembl chr11:78,512,137...78,518,668 		JBrowse link
G F8 coagulation factor VIII treatment ISO ClinVar Annotator: match by term: F8-related condition | ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A | ClinVar Annotator: match by term: Hemophilia A, congenital | ClinVar Annotator: match by term: Hemophilia, classic OMIM
ClinVar
RGD		 PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More... RGD:10450757 RGD:150520060 NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G F8A1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 PMID:22759210 NCBI chr  X:125,280,978...125,282,771 JBrowse link
G F9 coagulation factor IX ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 More... NCBI chr  X:114,218,704...114,250,436
Ensembl chr  X:114,218,707...114,250,429 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A ClinVar PMID:2105106 PMID:2563431 NCBI chr  X:125,354,032...125,366,029
Ensembl chr  X:125,354,021...125,372,610 		JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 PMID:22759210 NCBI chr  X:125,277,575...125,280,752 JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO DNA:repeat:promoter RGD PMID:23716558 RGD:10755564
G IFNG interferon gamma treatment ISO DNA:SNP: :+874 A>T (human) RGD PMID:25930091 RGD:11055683 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IL10 interleukin 10 treatment ISO DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) RGD PMID:20082647 RGD:11049183 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity
no_association		 ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)		 RGD PMID:22411997 RGD:10449409 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G PLAT plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,157...125,259,938 		JBrowse link
G TFPI tissue factor pathway inhibitor treatment ISO RGD PMID:22355108 PMID:24263002 PMID:24687919 RGD:11060141 RGD:11060147 RGD:11060256 NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905 		JBrowse link
G TGFB1 transforming growth factor beta 1 treatment ISO DNA:polymorphism: :869T>C(rs1982037)(human) RGD PMID:25930091 RGD:11055683 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G VWF von Willebrand factor treatment ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital RGD
ClinVar		 PMID:25741868 PMID:25955153 RGD:11073776 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,452 		JBrowse link
Factor VIII Deficiency, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO CTD Direct Evidence: therapeutic CTD PMID:11886462 NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
Familial Multiple Coagulation Factor Deficiency I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMAN1 lectin, mannose binding 1 ISO ClinVar Annotator: match by term: FMFD I OMIM
ClinVar		 PMID:9045860 PMID:9546392 PMID:18391077 PMID:25741868 PMID:31064749 NCBI chr 1:161,607,122...161,631,650
Ensembl chr 1:161,607,143...161,631,651 		JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: FMFD I ClinVar PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749 NCBI chr 3:93,620,921...93,633,018
Ensembl chr 3:93,620,936...93,633,015 		JBrowse link
Fanconi anemia complementation group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B OMIM
ClinVar		 PMID:8368240 PMID:15502827 PMID:16679491 PMID:17924555 PMID:21910217 More... NCBI chr  X:11,386,360...11,408,958
Ensembl chr  X:11,384,912...11,409,057 		JBrowse link
favism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,383,392...125,439,082
Ensembl chr  X:125,383,414...125,439,082 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867 		JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,372,941...125,383,272
Ensembl chr  X:125,372,941...125,376,999 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,404,852...124,414,246
Ensembl chr  X:124,409,289...124,414,212 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G F8A1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,280,978...125,282,771 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,354,032...125,366,029
Ensembl chr  X:125,354,021...125,372,610 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD AURES | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES OMIM
ClinVar		 PMID:5448 PMID:16832 PMID:511159 PMID:736032 PMID:835572 More... NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,158,148...125,209,080
Ensembl chr  X:125,158,154...125,209,035 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,277,575...125,280,752 JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,234,735...124,258,133
Ensembl chr  X:124,234,736...124,258,098 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:1945893 PMID:3198117 PMID:6805883 PMID:7803800 PMID:8244337 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LOC110257703 paraneoplastic antigen-like protein 6B ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,203,040...124,204,023 JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,372,941...125,377,910
Ensembl chr  X:125,377,350...125,381,178 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,425,867...124,430,000
Ensembl chr  X:124,425,872...124,429,261 		JBrowse link
G PNMA5 PNMA family member 5 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:123,998,935...124,001,201
Ensembl chr  X:123,999,037...124,000,974 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,157...125,259,938 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:25741868 PMID:28492532 NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,695,050...124,699,349 JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598 		JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,485,357...125,506,781
Ensembl chr  X:125,480,808...125,506,771 		JBrowse link
G ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,215,906...124,227,853
Ensembl chr  X:124,216,324...124,224,778 		JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:123,942,981...123,988,102
Ensembl chr  X:123,944,210...123,987,962 		JBrowse link
G ZNF275 zinc finger protein 275 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,156,708...124,173,566 JBrowse link
female-restricted syndromic X-linked intellectual disability 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USP9X ubiquitin specific peptidase 9 X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Intellectual disability, X-linked 99, syndromic, female-restricted | ClinVar Annotator: match by term: USP9X-related condition OMIM
ClinVar		 PMID:25741868 PMID:26833328 PMID:28492532 PMID:31443933 PMID:34008892 NCBI chr  X:36,736,049...36,888,702
Ensembl chr  X:36,760,865...36,885,250 		JBrowse link
FG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASK calcium/calmodulin dependent serine protein kinase ISO DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19200522 RGD:11576290 NCBI chr  X:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160 		JBrowse link
G FLNA filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome ClinVar PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXHXorf65 chromosome X CXorf65 homolog ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,139,975...57,143,070
Ensembl chr  X:57,140,831...57,143,151 		JBrowse link
G FOXO4 forkhead box O4 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,132,549...57,140,377
Ensembl chr  X:57,132,548...57,140,356 		JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,241,990...57,249,496
Ensembl chr  X:57,242,045...57,249,885 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,143,568...57,151,242
Ensembl chr  X:57,143,570...57,147,256 		JBrowse link
G ITGB1BP2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,316,490...57,321,614
Ensembl chr  X:57,316,471...57,325,096 		JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar		 PMID:6711603 PMID:8279489 PMID:9286458 PMID:9536098 PMID:10405444 More... NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
G NLGN3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,174,506...57,204,770
Ensembl chr  X:57,176,103...57,201,461 		JBrowse link
G SLC7A3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:56,937,081...56,942,331
Ensembl chr  X:56,937,086...56,942,357 		JBrowse link
G SNX12 sorting nexin 12 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,099,521...57,108,636
Ensembl chr  X:57,089,136...57,108,750 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,382,211...57,466,700
Ensembl chr  X:57,382,354...57,466,697 		JBrowse link
G TEX11 testis expressed 11 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:56,543,933...56,925,104
Ensembl chr  X:56,544,560...56,925,779 		JBrowse link
G ZMYM3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:57,261,923...57,279,427
Ensembl chr  X:57,261,924...57,278,495 		JBrowse link
FG Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: FG syndrome 2 OMIM
ClinVar		 PMID:10982489 PMID:12612583 PMID:16299064 PMID:16417552 PMID:16822260 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
FG Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASK calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: CASK-Related Disorder | ClinVar Annotator: match by term: FG syndrome 4 OMIM
ClinVar		 PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More... NCBI chr  X:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160 		JBrowse link
focal dermal hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Focal dermal hypoplasia | ClinVar Annotator: match by term: PORCN-related condition OMIM
ClinVar		 PMID:17546030 PMID:17546031 PMID:18325042 PMID:19277062 PMID:19309688 More... NCBI chr  X:42,653,696...42,669,526
Ensembl chr  X:42,653,789...42,669,517 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:1347096 PMID:8302318 PMID:8658145 PMID:8840969 PMID:8981943 More... NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223 		JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:28492532 NCBI chr 6:166,491,649...166,513,137
Ensembl chr 6:166,495,763...166,512,648 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:12068298 PMID:19533801 PMID:21188540 PMID:25741868 PMID:26467025 More... NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,626,003 		JBrowse link
fragile X syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGB androglobin ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:18,870,880...19,030,983
Ensembl chr 1:18,870,884...19,029,417 		JBrowse link
G AFF2 ALF transcription elongation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:120,777,559...121,263,574
Ensembl chr  X:120,777,734...121,263,569 		JBrowse link
G APP amyloid beta precursor protein ISO CTD Direct Evidence: therapeutic CTD PMID:22046307 NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,435,094...189,716,056 		JBrowse link
G CYFIP1 cytoplasmic FMR1 interacting protein 1 ISO RGD PMID:22900020 RGD:11558008 NCBI chr15:32,064,431...32,175,095
Ensembl chr15:32,064,475...32,175,094 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:24352881 RGD:10401097 NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898 		JBrowse link
G FMR1 Fragile X messenger ribonucleoprotein 1 ISO ClinVar Annotator: match by term: Fragile X syndrome OMIM
ClinVar		 PMID:7530551 PMID:7633450 PMID:7670500 PMID:8156595 PMID:8490650 More... NCBI chr  X:120,361,232...120,400,282
Ensembl chr  X:120,361,367...120,399,831 		JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:19,183,221...19,572,853
Ensembl chr 1:19,183,218...19,572,853 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO protein:increased expression:brain RGD PMID:25466251 PMID:26850918 RGD:11572344 RGD:13204755 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G NRXN3 neurexin 3 ISO mRNA:decreased expression:hippocampus,somatosendory cortex RGD PMID:26235839 RGD:11554325 NCBI chr 7:101,132,780...102,779,809
Ensembl chr 7:101,604,569...101,938,298 		JBrowse link
G RAB32 RAB32, member RAS oncogene family ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:19,076,301...19,097,647
Ensembl chr 1:19,075,271...19,097,870 		JBrowse link
fragile X-associated tremor/ataxia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FMR1 Fragile X messenger ribonucleoprotein 1 ISO ClinVar Annotator: match by term: Fragile X tremor/ataxia syndrome | ClinVar Annotator: match by term: Fragile X-associated tremor/ataxia syndrome OMIM
ClinVar		 PMID:25741868 NCBI chr  X:120,361,232...120,400,282
Ensembl chr  X:120,361,367...120,399,831 		JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
frontometaphyseal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1 OMIM
ClinVar		 PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:125,001,673...125,003,206 JBrowse link
glycogen storage disease IXA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,370,327...15,518,746
Ensembl chr  X:15,371,805...15,463,619 		JBrowse link
G BCLAF3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,252,407...16,312,426
Ensembl chr  X:16,252,420...16,312,439 		JBrowse link
G BEND2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,635,795...14,703,934 JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855 		JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,429,625...16,449,581
Ensembl chr  X:16,429,628...16,449,556 		JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,716,898...15,867,377
Ensembl chr  X:15,715,991...15,867,120 		JBrowse link
G MAP7D2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,327,718...16,423,546
Ensembl chr  X:16,327,968...16,422,772 		JBrowse link
G NHS NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:13,854,950...14,209,085
Ensembl chr  X:14,097,006...14,206,568 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,699,924...15,718,908
Ensembl chr  X:15,700,050...15,718,903 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE I OMIM
ClinVar		 PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:7959740 More... NCBI chr  X:15,279,398...15,365,731
Ensembl chr  X:15,283,120...15,365,565 		JBrowse link
G PPEF1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,111,230...15,251,415
Ensembl chr  X:15,138,350...15,251,228 		JBrowse link
G RAI2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,246,776...14,633,071
Ensembl chr  X:14,244,317...14,309,143 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,452,401...16,576,854
Ensembl chr  X:16,452,405...16,576,859 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243 		JBrowse link
G SCML1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,210,164...14,222,053 JBrowse link
G SCML2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,715,357...14,823,016
Ensembl chr  X:14,717,606...14,823,413 		JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXa1 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,887,131...16,229,212
Ensembl chr  X:15,885,069...16,224,183 		JBrowse link
glycogen storage disease IXD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar Annotator: match by term: PHKA1-related condition OMIM
ClinVar		 PMID:2252364 PMID:7874115 PMID:8145916 PMID:9536098 PMID:9731190 More... NCBI chr  X:58,456,097...58,583,216
Ensembl chr  X:58,455,939...58,583,216 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXd ClinVar PMID:10330341 PMID:12862311 PMID:23578772 PMID:25741868 PMID:27103379 More... NCBI chr  X:15,279,398...15,365,731
Ensembl chr  X:15,283,120...15,365,565 		JBrowse link
glycogen storage disease VIII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Phosphorylase kinase deficiency of liver ClinVar PMID:7711737 PMID:9536098 PMID:10330341 PMID:16199547 PMID:17576681 More... NCBI chr  X:15,279,398...15,365,731
Ensembl chr  X:15,283,120...15,365,565 		JBrowse link
hemophilia B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP11C ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:114,394,436...114,575,658
Ensembl chr  X:114,394,439...114,574,071 		JBrowse link
G CXHXorf66 chromosome X CXorf66 homolog ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:114,596,809...114,602,521 JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1671991 More... NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G F9 coagulation factor IX treatment ISO ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hemophilia B Brandenburg | ClinVar Annotator: match by term: Hemophilia B leyden | ClinVar Annotator: match by term: Hemophilia B, Factor IX Deficiency | ClinVar Annotator: match by term: Hemophilia b(m) | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease OMIM
ClinVar
RGD		 PMID:734633 PMID:884315 PMID:1346077 PMID:1346975 PMID:1357229 More... RGD:10450761 RGD:10450764 NCBI chr  X:114,218,704...114,250,436
Ensembl chr  X:114,218,707...114,250,429 		JBrowse link
G MCF2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:114,258,082...114,356,106
Ensembl chr  X:114,258,074...114,356,156 		JBrowse link
G SOX3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:115,017,704...115,020,601
Ensembl chr  X:115,019,232...115,020,578 		JBrowse link
hereditary spastic paraplegia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MORF4L2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:84,553,770...84,566,304
Ensembl chr  X:84,553,774...84,569,030 		JBrowse link
G PLP1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED | ClinVar Annotator: match by term: Spastic paraplegia 2 OMIM
ClinVar		 PMID:1384324 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 More... NCBI chr  X:84,676,627...84,683,517
Ensembl chr  X:84,666,733...84,685,058 		JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED | ClinVar Annotator: match by term: Spastic paraplegia 2 ClinVar PMID:1384324 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 More... NCBI chr  X:84,721,269...84,733,000
Ensembl chr  X:84,721,274...84,732,990 		JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:25741868 NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,813...107,508,926 		JBrowse link
G TCEAL1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:84,518,999...84,521,020
Ensembl chr  X:84,519,005...84,521,009 		JBrowse link
G TCEAL3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:84,485,887...84,490,011 JBrowse link
G TCEAL4 transcription elongation factor A like 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:84,475,232...84,477,380 JBrowse link
G TMSB15B thymosin beta 15B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:84,815,565...84,871,809 JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCLRE1B DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328 NCBI chr 4:106,646,591...106,656,490
Ensembl chr 4:106,646,011...106,656,452 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544 PMID:20301779 More... NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) RGD PMID:23959892 RGD:152977765 NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690 		JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia ClinVar PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,063,979 		JBrowse link
HRPT-related hyperuricemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH16A1 aldehyde dehydrogenase 16 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chr 6:54,528,905...54,551,645
Ensembl chr 6:54,529,468...54,548,144 		JBrowse link
G CCDC160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:110,159,833...110,170,354
Ensembl chr  X:110,159,912...110,170,350 		JBrowse link
G GPC3 glypican 3 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:109,536,495...109,973,605
Ensembl chr  X:109,536,504...109,973,607 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: HPRT1-Related Disorders | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency OMIM
ClinVar		 PMID:1301916 PMID:1483694 PMID:1487231 PMID:1551676 PMID:1618489 More... NCBI chr  X:110,321,144...110,357,902
Ensembl chr  X:110,321,204...110,357,894 		JBrowse link
G MIR19B-2 microRNA mir-19b-2 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:110,113,855...110,113,934
Ensembl chr  X:110,113,855...110,113,934 		JBrowse link
G PHF6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:110,249,010...110,311,503
Ensembl chr  X:110,249,010...110,303,017 		JBrowse link
hypogonadotropic hypogonadism 1 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANOS1 anosmin 1 ISO ClinVar Annotator: match by term: ANOS1-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia OMIM
ClinVar		 PMID:1518845 PMID:1594017 PMID:1639422 PMID:1904396 PMID:8504298 More... NCBI chr  X:5,163,638...5,363,835
NCBI chr  Y:3,807,032...4,014,112 		JBrowse link
Hypospadias 1, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor ISO ClinVar Annotator: match by term: Hypospadias 1, X-linked ClinVar
OMIM		 PMID:2594783 PMID:7981687 PMID:8033918 PMID:8097257 PMID:8683794 More... NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
Hypospadias 2, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAMLD1 mastermind like domain containing 1 ISO ClinVar Annotator: match by term: Hypospadias 2, X-linked OMIM
ClinVar		 PMID:17086185 PMID:20347055 PMID:25741868 PMID:28492532 PMID:32690052 More... NCBI chr  X:122,120,275...122,233,692
Ensembl chr  X:122,120,300...122,234,472 		JBrowse link
ichthyosis follicularis-alopecia-photophobia syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30431684 NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome OMIM
ClinVar		 PMID:10694306 PMID:19361614 PMID:21426410 PMID:22105905 PMID:24090718 More... NCBI chr  X:18,013,360...18,054,250 JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome ClinVar PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 NCBI chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,267 		JBrowse link
IGSF1 deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310 		JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:11,386,360...11,408,958
Ensembl chr  X:11,384,912...11,409,057 		JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar NCBI chr10:26,796,546...27,055,271
Ensembl chr10:26,796,572...27,061,801 		JBrowse link
G IGSF1 immunoglobulin superfamily member 1 ISO ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement OMIM
ClinVar		 PMID:23143598 PMID:23966245 PMID:25741868 PMID:27310681 PMID:28492532 More... NCBI chr  X:107,674,966...108,050,736
Ensembl chr  X:107,674,972...107,691,141 		JBrowse link
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,885,584...43,895,142
Ensembl chr  X:43,885,394...43,895,981 		JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,078,202...42,090,250
Ensembl chr  X:42,078,206...42,090,250 		JBrowse link
G BMP15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:44,613,122...44,620,575
Ensembl chr  X:44,613,122...44,620,575 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,250,449...43,284,458
Ensembl chr  X:43,251,370...43,283,990 		JBrowse link
G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,128,938...43,146,777
Ensembl chr  X:43,134,275...43,146,775 		JBrowse link
G CCDC22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:19471859 PMID:28492532 PMID:30443250 NCBI chr  X:43,285,232...43,303,865
Ensembl chr  X:43,285,246...43,303,864 		JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,922,729...43,988,939
Ensembl chr  X:43,922,804...43,990,929 		JBrowse link
G CDK16 cyclin dependent kinase 16 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,836,268...41,848,580
Ensembl chr  X:41,835,987...41,848,574 		JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,145,754...42,152,879
Ensembl chr  X:42,143,697...42,152,868 		JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,157,980...42,174,964
Ensembl chr  X:42,157,988...42,174,951 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,628...43,811,526 		JBrowse link
G DGKK diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:44,001,172...44,180,142
Ensembl chr  X:44,001,176...44,180,179 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) RGD PMID:29058101 RGD:40886273 NCBI chr 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953 		JBrowse link
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,670,592...42,678,571
Ensembl chr  X:42,670,633...42,678,570 		JBrowse link
G ERAS ES cell expressed Ras ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,942,033...42,946,715
Ensembl chr  X:42,941,664...42,946,524 		JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome OMIM
ClinVar		 PMID:3375136 PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 More... NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,609,560...42,620,198
Ensembl chr  X:42,609,771...42,620,284 		JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976 		JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,877,034...42,889,285
Ensembl chr  X:42,877,140...42,889,271 		JBrowse link
G GPKOW G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,177,264...43,192,021
Ensembl chr  X:43,177,272...43,191,830 		JBrowse link
G GRIPAP1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,043,613...43,070,363
Ensembl chr  X:43,043,029...43,070,364 		JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887 		JBrowse link
G JADE3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,579,565...41,714,705
Ensembl chr  X:41,579,764...41,714,706 		JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,032,355...43,043,310
Ensembl chr  X:43,032,358...43,041,760 		JBrowse link
G LOC100513450 P antigen family member 4 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,489,559...43,496,654
Ensembl chr  X:43,446,109...43,494,094 		JBrowse link
G MAGIX MAGI family member, X-linked ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,206,680...43,212,889
Ensembl chr  X:43,207,062...43,211,635 		JBrowse link
G MIR532 microRNA mir-532 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,705,258...43,705,337
Ensembl chr  X:43,705,258...43,705,337 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,770,929...41,773,879
Ensembl chr  X:41,770,941...41,774,245 		JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,001,491...43,029,471
Ensembl chr  X:43,000,231...43,029,468 		JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,947,688...42,952,222
Ensembl chr  X:42,947,692...42,949,024 		JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,993,547...42,998,575
Ensembl chr  X:42,993,551...42,998,573 		JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,215,372...43,218,318
Ensembl chr  X:43,215,283...43,218,316 		JBrowse link
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,653,696...42,669,526
Ensembl chr  X:42,653,789...42,669,517 		JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,328,199...43,344,503
Ensembl chr  X:43,328,274...43,344,013 		JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,976,086...42,981,732
Ensembl chr  X:42,975,413...42,981,724 		JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,147,473...43,150,350 JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,218,271...43,230,368
Ensembl chr  X:43,218,277...43,230,367 		JBrowse link
G RBM10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,773,232...41,803,656
Ensembl chr  X:41,773,232...41,803,653 		JBrowse link
G RBM3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,704,019...42,707,587
Ensembl chr  X:42,704,028...42,707,577 		JBrowse link
G RGN regucalcin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,725,660...41,749,736
Ensembl chr  X:41,726,526...41,749,381 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,488,866...41,534,810
Ensembl chr  X:41,488,626...41,534,799 		JBrowse link
G SHROOM4 shroom family member 4 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:44,301,956...44,543,969
Ensembl chr  X:44,332,620...44,543,337 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,981,801...42,992,091
Ensembl chr  X:42,981,802...42,992,081 		JBrowse link
G SLC38A5 solute carrier family 38 member 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,590,608...42,601,537
Ensembl chr  X:42,590,607...42,601,502 		JBrowse link
G SLC9A7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,233,308...41,399,032
Ensembl chr  X:41,236,246...41,398,999 		JBrowse link
G SPACA5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,476,719...42,478,783
Ensembl chr  X:42,476,587...42,478,921 		JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,797,309...42,811,457
Ensembl chr  X:42,797,828...42,811,461 		JBrowse link
G SYN1 synapsin I ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,090,245...42,142,254
Ensembl chr  X:42,090,246...42,142,224 		JBrowse link
G SYP synaptophysin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,232,190...43,246,764
Ensembl chr  X:43,232,192...43,246,680 		JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,682,267...42,696,579
Ensembl chr  X:42,682,269...42,696,574 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,100,375...43,116,377
Ensembl chr  X:43,100,032...43,116,227 		JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,970,586...42,976,287
Ensembl chr  X:42,970,108...42,975,955 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,810,726...41,832,818
Ensembl chr  X:41,814,101...41,832,812 		JBrowse link
G USP11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,851,534...41,866,357
Ensembl chr  X:41,851,602...41,866,355 		JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,553,454...43,557,247
Ensembl chr  X:43,555,005...43,556,321 		JBrowse link
G UXT ubiquitously expressed prefoldin like chaperone ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,176,142...42,184,131
Ensembl chr  X:42,176,145...42,184,079 		JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,774,597...42,793,055
Ensembl chr  X:42,774,588...42,793,055 		JBrowse link
G WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,715,097...42,730,200
Ensembl chr  X:42,722,730...42,730,199 		JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,477...43,156,234 		JBrowse link
G ZNF157 zinc finger protein 157 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,905,319...41,921,484
Ensembl chr  X:41,905,226...41,920,880 		JBrowse link
G ZNF182 zinc finger protein 182 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,444,227...42,473,308
Ensembl chr  X:42,444,230...42,473,285 		JBrowse link
G ZNF41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:41,931,036...41,984,439
Ensembl chr  X:41,934,977...41,984,595 		JBrowse link
G ZNF630 zinc finger protein 630 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,518,203...42,540,677
Ensembl chr  X:42,518,211...42,540,232 		JBrowse link
G ZNF81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chr  X:42,246,548...42,372,191
Ensembl chr  X:42,246,751...42,468,024 		JBrowse link
immunodeficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPTL7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:71,350,872...71,356,299
Ensembl chr 6:71,350,033...71,356,662 		JBrowse link
G APITD1 apoptosis-inducing, TAF9-like domain 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:70,700,802...70,711,719
Ensembl chr 6:70,701,694...70,711,717 		JBrowse link
G CASZ1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:70,876,329...71,029,495
Ensembl chr 6:70,878,983...70,933,357 		JBrowse link
G CLSTN1 calsyntenin 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:70,086,245...70,165,240
Ensembl chr 6:70,086,247...70,165,174 		JBrowse link
G CORT cortistatin ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:70,716,630...70,717,980
Ensembl chr 6:70,716,386...70,718,032 		JBrowse link
G CTNNBIP1 catenin beta interacting protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:70,184,935...70,241,560
Ensembl chr 6:70,184,936...70,241,477 		JBrowse link
G DFFA DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:70,725,403...70,736,264
Ensembl chr 6:70,724,590...70,736,236 		JBrowse link
G EXOSC10 exosome component 10 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:71,258,988...71,282,802
Ensembl chr 6:71,258,999...71,282,433 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT ClinVar PMID:5448 PMID:1303173 PMID:1924316 PMID:2572288 PMID:2836867 More... NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798 		JBrowse link
G LZIC leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:70,261,447...70,271,710
Ensembl chr 6:70,259,151...70,271,955 		JBrowse link
G MASP2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:71,224,637...71,243,041
Ensembl chr 6:71,224,637...71,243,874 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:70,271,296...70,307,403
Ensembl chr 6:70,272,014...70,310,707 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:70,737,871...70,872,074
Ensembl chr 6:70,737,905...70,872,072 		JBrowse link
G PGD phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:70,675,751...70,692,697
Ensembl chr 6:70,675,815...70,692,679 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO ClinVar Annotator: match by term: Activated PI3K-delta syndrome | ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive | ClinVar Annotator: match by term: p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY, AND IMMUNODEFICIENCY OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16984281 PMID:17576681 PMID:24136356 More... NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742 		JBrowse link
G RBP7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:70,313,316...70,326,407
Ensembl chr 6:70,313,309...70,326,455 		JBrowse link
G SRM spermidine synthase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:71,246,895...71,253,534
Ensembl chr 6:71,246,876...71,253,508 		JBrowse link
G TARDBP TAR DNA binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:71,213,584...71,227,707
Ensembl chr 6:71,213,860...71,227,704 		JBrowse link
G UBE4B ubiquitination factor E4B ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 6:70,345,789...70,462,434
Ensembl chr 6:70,345,813...70,462,434 		JBrowse link
immunodeficiency 15A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Immunodeficiency 15a OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30337470 NCBI chr17:11,289,607...11,348,557
Ensembl chr17:11,289,690...11,348,549 		JBrowse link
immunodeficiency 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,579,291...63,593,429
Ensembl chr 6:63,579,304...63,593,435 		JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,366,017...63,398,311
Ensembl chr 6:63,365,983...63,398,309 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,678,757...63,686,409 JBrowse link
G ARHGEF16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,026,490...65,048,545
Ensembl chr 6:65,027,442...65,048,542 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,656,120...63,657,568
Ensembl chr 6:63,656,119...63,657,472 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112 		JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,548,862...63,555,991
Ensembl chr 6:63,548,864...63,553,332 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,970,359...63,971,973 JBrowse link
G CCDC27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,242,725...65,254,879
Ensembl chr 6:65,242,602...65,255,727 		JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,659,053...63,668,077
Ensembl chr 6:63,659,054...63,668,047 		JBrowse link
G CDK11 cyclin dependent kinase 11 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,804,914...63,819,960 JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,274,092...65,310,735
Ensembl chr 6:65,274,488...65,310,669 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,976,011...64,038,899
Ensembl chr 6:63,976,346...64,024,562 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,607,991...63,612,325 JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913 		JBrowse link
G FAAP20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,160,760...64,169,663 JBrowse link
G FNDC10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,762,059...63,765,483
Ensembl chr 6:63,764,815...63,765,483 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505 		JBrowse link
G HES4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,351,593...63,356,690
Ensembl chr 6:63,351,602...63,356,466 		JBrowse link
G HES5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,409,110...64,410,541
Ensembl chr 6:64,408,956...64,410,881 		JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,596,809...63,607,915
Ensembl chr 6:63,596,803...63,607,921 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,363,201...63,364,211
Ensembl chr 6:63,363,173...63,364,208 		JBrowse link
G KLHL17 kelch like family member 17 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,320,898...63,328,093
Ensembl chr 6:63,322,184...63,328,259 		JBrowse link
G LOC100525876 ATPase family AAA domain-containing protein 3 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,573 		JBrowse link
G LOC100624218 MORN repeat-containing protein 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897 		JBrowse link
G LRRC47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,261,990...65,271,745
Ensembl chr 6:65,260,793...65,271,729 		JBrowse link
G MEGF6 multiple EGF like domains 6 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,055,533...65,141,449
Ensembl chr 6:65,053,389...65,141,380 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,787,200...63,800,425
Ensembl chr 6:63,787,201...63,800,423 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,436,778...64,470,888
Ensembl chr 6:64,436,642...64,472,759 		JBrowse link
G MMP23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,801,668...63,804,275
Ensembl chr 6:63,801,965...63,805,046 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,670,750...63,675,834
Ensembl chr 6:63,670,755...63,675,839 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,630,936...63,635,623
Ensembl chr 6:63,630,938...63,635,456 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,846,650...63,864,137
Ensembl chr 6:63,846,655...63,863,946 		JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,307,703...63,320,799
Ensembl chr 6:63,307,695...63,335,201 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,393,092...64,407,443
Ensembl chr 6:64,393,102...64,407,448 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,311,743...64,317,693 JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,325,918...64,392,070
Ensembl chr 6:64,325,952...64,392,068 		JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,328,054...63,336,140
Ensembl chr 6:63,328,605...63,336,138 		JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,577...64,163,472 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,432,187...64,435,328
Ensembl chr 6:64,432,148...64,435,320 		JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,593,539...63,596,921
Ensembl chr 6:63,593,959...63,599,019 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,301,139...64,311,526
Ensembl chr 6:64,301,199...64,311,783 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,413,080...63,445,277
Ensembl chr 6:63,413,086...63,414,357 		JBrowse link
G SAMD11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,287,449...63,308,231
Ensembl chr 6:63,287,713...63,308,482 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,568,171...63,578,623 JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,544,944 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560 		JBrowse link
G SLC35E2 solute carrier family 35 member E2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,820,804...63,842,400
Ensembl chr 6:63,820,812...63,835,561 		JBrowse link
G SMIM1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,255,792...65,259,129
Ensembl chr 6:65,255,823...65,259,126 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,728,318...63,757,460
Ensembl chr 6:63,728,325...63,755,163 		JBrowse link
G TAS1R3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,613,536...63,617,831
Ensembl chr 6:63,607,990...63,617,809 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,721,655...63,727,457
Ensembl chr 6:63,721,656...63,727,526 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,969,438...63,974,312
Ensembl chr 6:63,969,440...63,974,286 		JBrowse link
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,686,542...63,689,298
Ensembl chr 6:63,686,546...63,688,456 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency | ClinVar Annotator: match by term: Immunodeficiency 16 OMIM
ClinVar		 PMID:9536098 PMID:9683594 PMID:10862081 PMID:16199547 PMID:17576681 More... NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666 		JBrowse link
G TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990 		JBrowse link
G TPRG1L tumor protein p63 regulated 1 like ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,150,897...65,154,311
Ensembl chr 6:65,150,903...65,154,429 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,478,117...64,499,034
Ensembl chr 6:64,478,408...64,499,986 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,494,759...63,513,884
Ensembl chr 6:63,497,597...63,511,918 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,556,134...63,568,080
Ensembl chr 6:63,555,488...63,568,017 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287 		JBrowse link
G WRAP73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,155,201...65,167,091
Ensembl chr 6:65,155,209...65,167,079 		JBrowse link
immunodeficiency 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOP1A DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:9536098 PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 More... NCBI chr 1:83,029,817...83,137,441
Ensembl chr 1:83,026,514...83,137,426 		JBrowse link
G ME1 malic enzyme 1 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 1:82,799,878...82,989,895
Ensembl chr 1:82,799,684...82,991,085 		JBrowse link
G PGM3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 OMIM
ClinVar		 PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More... NCBI chr 1:83,003,622...83,029,392
Ensembl chr 1:83,003,604...83,029,897 		JBrowse link
G PRSS35 serine protease 35 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 1:82,714,880...82,734,883
Ensembl chr 1:82,714,884...82,734,884 		JBrowse link
G RWDD2A RWD domain containing 2A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 1:82,997,984...83,003,583
Ensembl chr 1:82,997,993...83,003,528 		JBrowse link
G SNAP91 synaptosome associated protein 91 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 1:82,540,998...82,698,652
Ensembl chr 1:82,541,018...82,698,633 		JBrowse link
G TPBG trophoblast glycoprotein ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 1:83,847,809...83,851,326
Ensembl chr 1:83,847,819...83,850,881 		JBrowse link
G UBE3D ubiquitin protein ligase E3D ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 1:83,140,479...83,295,865
Ensembl chr 1:83,140,635...83,295,785 		JBrowse link
immunodeficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,383,392...125,439,082
Ensembl chr  X:125,383,414...125,439,082 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867 		JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,372,941...125,383,272
Ensembl chr  X:125,372,941...125,376,999 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,404,852...124,414,246
Ensembl chr  X:124,409,289...124,414,212 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G F8A1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,280,978...125,282,771 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,354,032...125,366,029
Ensembl chr  X:125,354,021...125,372,610 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,158,148...125,209,080
Ensembl chr  X:125,158,154...125,209,035 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,277,575...125,280,752 JBrowse link
G H2AB2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,537,401...125,540,026 JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,234,735...124,258,133
Ensembl chr  X:124,234,736...124,258,098 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 OMIM
ClinVar		 PMID:11590134 PMID:15229184 PMID:16950813 PMID:18222329 PMID:20529958 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G IL9R interleukin 9 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr 3:41,581,253...41,590,485
Ensembl chr 3:41,583,693...41,594,867 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,372,941...125,377,910
Ensembl chr  X:125,377,350...125,381,178 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,425,867...124,430,000
Ensembl chr  X:124,425,872...124,429,261 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,157...125,259,938 		JBrowse link
G SPRY3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,744,643...125,764,342
Ensembl chr  X:125,754,671...125,763,636 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,695,050...124,699,349 JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,601,920...125,673,716
Ensembl chr  X:125,598,116...125,673,669 		JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,863,266...125,917,232
Ensembl chr  X:125,863,292...125,917,225 		JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,485,357...125,506,781
Ensembl chr  X:125,480,808...125,506,771 		JBrowse link
immunodeficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP91-PHOX NADPH oxidase heavy chain subunit ISO ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency OMIM
ClinVar		 PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 More... NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,643,648...33,680,580 		JBrowse link
immunodeficiency 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 36 OMIM
ClinVar		 PMID:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:11135494 More... NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609 		JBrowse link
immunodeficiency 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL10 BCL10 immune signaling adaptor ISO ClinVar Annotator: match by term: Immunodeficiency 37 OMIM
ClinVar		 PMID:9536098 PMID:9989495 PMID:10380920 PMID:10408400 PMID:17576681 More... NCBI chr 4:130,645,427...130,653,317
Ensembl chr 4:130,645,216...130,657,995 		JBrowse link
immunodeficiency 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C16H5orf58 chromosome 16 C5orf58 homolog ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr16:53,740,219...53,747,279 JBrowse link
G DOCK2 dedicator of cytokinesis 2 ISO ClinVar Annotator: match by term: DOCK2 deficiency | ClinVar Annotator: match by term: Immunodeficiency 40 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25741905 More... NCBI chr16:53,843,248...54,248,708
Ensembl chr16:53,843,252...54,248,638 		JBrowse link
G FOXI1 forkhead box I1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr16:53,835,350...53,839,185
Ensembl chr16:53,835,399...53,839,187 		JBrowse link
G INSYN2B inhibitory synaptic factor family member 2B ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:25741868 PMID:26083206 PMID:28492532 NCBI chr16:53,939,487...54,057,671
Ensembl chr16:53,941,568...54,057,671 		JBrowse link
G MIR103-1 microRNA mir-103-1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr16:55,329,442...55,329,523
Ensembl chr16:55,329,442...55,329,523 		JBrowse link
G PANK3 pantothenate kinase 3 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr16:55,313,333...55,340,070
Ensembl chr16:55,313,324...55,340,065 		JBrowse link
G RARS1 arginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr16:55,373,739...55,412,076
Ensembl chr16:55,373,727...55,412,112 		JBrowse link
G SLIT3 slit guidance ligand 3 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr16:54,551,536...55,221,427
Ensembl chr16:54,553,426...55,220,296 		JBrowse link
G SPDL1 spindle apparatus coiled-coil protein 1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr16:54,276,943...54,303,465
Ensembl chr16:54,277,052...54,303,544 		JBrowse link
G WWC1 WW and C2 domain containing 1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr16:55,418,391...55,595,202
Ensembl chr16:55,418,397...55,595,189 		JBrowse link
immunodeficiency 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFRC transferrin receptor ISO ClinVar Annotator: match by term: TFRC-related combined immunodeficiency OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25741913 PMID:26642240 More... NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276 		JBrowse link
immunodeficiency 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 47 OMIM
ClinVar		 PMID:25741868 PMID:27231034 PMID:28492532 PMID:28688840 PMID:29192153 More... NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
immunodeficiency 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSN moesin ISO ClinVar Annotator: match by term: Combined immunodeficiency due to moesin deficiency | ClinVar Annotator: match by term: Immunodeficiency 50 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:27405666 PMID:28378256 PMID:28492532 More... NCBI chr  X:51,844,197...51,967,674
Ensembl chr  X:51,844,156...51,970,107 		JBrowse link
immunodeficiency 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RELB RELB proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Immunodeficiency 53 | ClinVar Annotator: match by term: RELB-related condition OMIM
ClinVar		 PMID:25741868 PMID:26385063 PMID:28492532 NCBI chr 6:51,444,670...51,480,350
Ensembl chr 6:51,444,664...51,480,319 		JBrowse link
immunodeficiency 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL21R interleukin 21 receptor ISO ClinVar Annotator: match by term: IL21R immunodeficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22235133 PMID:23440042 More... NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152 		JBrowse link
immunodeficiency 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACD ACD shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency ClinVar PMID:25741868 NCBI chr 6:28,277,649...28,280,409
Ensembl chr 6:28,277,614...28,280,405 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: CARMIL2-related condition | ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:27647349 PMID:27896283 PMID:28112205 More... NCBI chr 6:28,265,130...28,277,649
Ensembl chr 6:28,265,135...28,277,641 		JBrowse link
immunodeficiency 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BACH2 BTB domain and CNC homolog 2 ISO ClinVar Annotator: match by term: BACH2-related condition | ClinVar Annotator: match by term: Immunodeficiency 60 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530713 NCBI chr 1:57,881,203...58,281,740
Ensembl chr 1:57,899,808...58,281,430 		JBrowse link
immunodeficiency 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SH3KBP1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: AGMX2 | ClinVar Annotator: match by term: Immunodeficiency 61 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29636373 NCBI chr  X:15,887,131...16,229,212
Ensembl chr  X:15,885,069...16,224,183 		JBrowse link
immunodeficiency 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IVNS1ABP influenza virus NS1A binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 70 OMIM
ClinVar		 PMID:32499645 NCBI chr 9:126,459,542...126,480,126
Ensembl chr 9:126,453,155...126,479,587 		JBrowse link
immunodeficiency with hyper IgM type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40 CD40 molecule ISO ClinVar Annotator: match by term: CD40-related condition | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 OMIM
ClinVar		 PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 More... NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		JBrowse link
Inherited Thyroxine-Binding Globulin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINA7 serpin family A member 7 ISO ClinVar Annotator: match by term: Thyroxine-binding globulin, variant P ClinVar PMID:1901689 PMID:2155256 PMID:2495303 PMID:18407078 PMID:25741868 More... NCBI chr  X:86,708,624...86,714,324
Ensembl chr  X:86,708,632...86,714,329 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKAP NFKB activating protein ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS, 2 OMIM
ClinVar		 PMID:25741868 PMID:26358559 PMID:31587868 NCBI chr  X:98,233,504...98,276,839
Ensembl chr  X:98,256,632...98,276,773 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: DDX3X-related X-linked intellectual disability | ClinVar Annotator: match by term: DDX3X-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE | ClinVar Annotator: match by term: X-linked intellectual disability-hypotonia-movement disorder syndrome OMIM
ClinVar		 PMID:2563148 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr  X:36,988,031...37,005,496
Ensembl chr  X:36,988,031...37,018,202 		JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chr 3:46,316,864...46,378,279
Ensembl chr 3:46,316,875...46,377,273 		JBrowse link
G PHIP pleckstrin homology domain interacting protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:87,116,884...87,247,500
Ensembl chr 1:87,117,092...87,243,675 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM | ClinVar Annotator: match by term: Intellectual disability, X-linked, with panhypopituitarism | ClinVar Annotator: match by term: X-linked intellectual disability with isolated growth hormone deficiency OMIM
ClinVar		 PMID:8826446 PMID:12428212 PMID:21289259 PMID:23757202 PMID:25741868 More... NCBI chr  X:115,017,704...115,020,601
Ensembl chr  X:115,019,232...115,020,578 		JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL13A ADP ribosylation factor like GTPase 13A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,670,773...82,681,890
Ensembl chr  X:82,671,561...82,684,002 		JBrowse link
G ARMCX1 armadillo repeat containing X-linked 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,132,775...83,136,924
Ensembl chr  X:83,132,792...83,136,917 		JBrowse link
G ARMCX2 armadillo repeat containing X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,213,939...83,218,601
Ensembl chr  X:83,213,947...83,224,391 		JBrowse link
G ARMCX3 armadillo repeat containing X-linked 3 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,187,939...83,192,693
Ensembl chr  X:83,187,979...83,197,532 		JBrowse link
G ARMCX4 armadillo repeat containing X-linked 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,092,592...83,130,725
Ensembl chr  X:83,092,697...83,103,834 		JBrowse link
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency OMIM
ClinVar		 PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7627183 More... NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573 		JBrowse link
G CENPI centromere protein I ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,776,375...82,826,651
Ensembl chr  X:82,776,447...82,825,655 		JBrowse link
G CSTF2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,508,739...82,540,861
Ensembl chr  X:82,508,736...82,540,863 		JBrowse link
G DRP2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,871,901...82,925,889
Ensembl chr  X:82,872,197...82,925,883 		JBrowse link
G GLA galactosidase alpha ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,570 		JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,032,525...83,038,369
Ensembl chr  X:83,032,621...83,038,361 		JBrowse link
G LOC100153087 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,338,757...83,361,973 JBrowse link
G LOC100520992 protein ARMCX6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,179,741...83,182,711
Ensembl chr  X:83,179,753...83,182,679 		JBrowse link
G NOX1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,540,664...82,575,811
Ensembl chr  X:82,540,667...82,586,532 		JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,031,365...82,153,159
Ensembl chr  X:82,036,199...82,151,652 		JBrowse link
G RPL36A ribosomal protein L36a ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,018,305...83,022,285
Ensembl chr  X:83,018,141...83,022,283 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,336,741...82,363,868
Ensembl chr  X:82,336,744...82,363,867 		JBrowse link
G SYTL4 synaptotagmin like 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,367,546...82,437,439
Ensembl chr  X:82,367,549...82,437,401 		JBrowse link
G TAF7L TATA-box binding protein associated factor 7 like ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,930,258...82,951,065
Ensembl chr  X:82,930,266...82,951,224 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 More... NCBI chr  X:82,978,128...82,981,038
Ensembl chr  X:82,974,270...82,980,769 		JBrowse link
G TMEM35A transmembrane protein 35A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,761,552...82,774,952
Ensembl chr  X:82,761,589...82,774,951 		JBrowse link
G TNMD tenomodulin ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,269,323...82,292,083
Ensembl chr  X:82,269,239...82,292,246 		JBrowse link
G TRMT2B tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,638,456...82,741,659
Ensembl chr  X:82,690,392...82,735,521 		JBrowse link
G TSPAN6 tetraspanin 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,323,634...82,328,919
Ensembl chr  X:82,323,624...82,328,903 		JBrowse link
G XKRX XK related X-linked ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,614,592...82,630,188
Ensembl chr  X:82,610,758...82,630,310 		JBrowse link
Isolated Noncompaction of the Ventricular Myocardium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMP2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium ClinVar PMID:10972294 PMID:25741868 NCBI chr  X:98,586,718...98,623,939
Ensembl chr  X:98,556,710...98,623,940 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium ClinVar PMID:25741868 PMID:28492532 NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium ClinVar PMID:25741868 NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104 		JBrowse link
G NR2C2 nuclear receptor subfamily 2 group C member 2 ISO RGD PMID:21221781 RGD:7775017 NCBI chr13:69,464,798...69,577,638
Ensembl chr13:69,464,795...69,576,946 		JBrowse link
Joubert syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Joubert syndrome 10 OMIM
ClinVar		 PMID:16783569 PMID:18546297 PMID:19800048 PMID:22353940 PMID:23033313 More... NCBI chr  X:10,361,403...10,415,502 JBrowse link
Keipert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC4 glypican 4 ISO ClinVar Annotator: match by term: Keipert syndrome OMIM
ClinVar		 PMID:4708024 PMID:25741868 PMID:30982611 NCBI chr  X:109,306,489...109,421,947
Ensembl chr  X:109,306,368...109,421,785 		JBrowse link
Kennedy's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor treatment ISO ClinVar Annotator: match by term: Bulbospinal neuronopathy X-linked recessive | ClinVar Annotator: match by term: Kennedy disease RGD
ClinVar
OMIM		 PMID:2594783 PMID:9544375 PMID:10852459 PMID:16804045 PMID:17970778 More... RGD:11576229 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536 		JBrowse link
left ventricular noncompaction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 PMID:28492532 NCBI chr14:102,603,777...102,612,857
Ensembl chr14:102,603,777...102,612,839 		JBrowse link
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:21353195 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28254189 More... NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,987 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO OMIM:604169 MouseDO NCBI chr 5:64,071,627...64,105,212
Ensembl chr 5:64,065,992...64,105,173 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:23861362 PMID:25145518 PMID:25145519 PMID:25642760 PMID:25741868 More... NCBI chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,283...60,050,689 		JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:19318026 PMID:21846512 PMID:22224630 PMID:22266370 PMID:22464770 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:32492895 NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:14563344 PMID:15519027 PMID:16061003 PMID:16352453 PMID:17560888 More... NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:2136805 PMID:3203908 PMID:7883988 PMID:7909436 PMID:8614836 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:21636032 PMID:22214898 PMID:23299917 PMID:24033266 PMID:25741868 More... NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G PRDM16 PR/SET domain 16 ISO OMIM:604169 MouseDO NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570 		JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:18752142 PMID:19926015 PMID:23022705 PMID:24025405 PMID:24033266 More... NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063 		JBrowse link
G SLC39A8 solute carrier family 39 member 8 ISO OMIM:604169 MouseDO NCBI chr 8:118,604,852...118,678,115
Ensembl chr 8:118,605,402...118,678,107 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,879...99,162,232 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:22958901 PMID:24033266 PMID:25741868 PMID:33500567 PMID:34691145 More... NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:22958901 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 More... NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 PMID:28492532 NCBI chr15:84,226,953...84,501,320 JBrowse link
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO OMIM:604169 MouseDO NCBI chr12:47,601,133...47,645,327
Ensembl chr12:47,600,745...47,645,301 		JBrowse link
Left Ventricular Noncompaction 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS ClinVar PMID:25741868 PMID:28416588 PMID:28492532 PMID:28798025 PMID:30471092 More... NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,547 		JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778 		JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 OMIM
ClinVar		 PMID:9536098 PMID:11238270 PMID:16199547 PMID:17576681 PMID:21520333 More... NCBI chr 6:118,333,069...118,753,516
Ensembl chr 6:118,333,733...118,753,512 		JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:24120998 PMID:25741868 PMID:27483260 PMID:27789736 PMID:28492532 More... NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS ClinVar PMID:203962 PMID:7493025 PMID:11499718 PMID:12202917 PMID:15519027 More... NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104 		JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,299,505...71,387,025 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755 		JBrowse link
Left Ventricular Noncompaction 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTN titin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 2 ClinVar PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 PMID:26701604 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
Left Ventricular Noncompaction 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIB1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 7 | ClinVar Annotator: match by term: MIB1-related condition OMIM
ClinVar		 PMID:23314057 PMID:25741868 PMID:26188975 PMID:28492532 PMID:28530678 More... NCBI chr 6:106,917,995...107,043,144
Ensembl chr 6:106,917,718...107,040,079 		JBrowse link
Leigh Syndrome, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:25741868 NCBI chr  X:15,716,898...15,867,377
Ensembl chr  X:15,715,991...15,867,120 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:1293379 PMID:3034892 PMID:9671272 PMID:20002461 PMID:21846590 More... NCBI chr  X:15,699,924...15,718,908
Ensembl chr  X:15,700,050...15,718,903 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:26,014,954...26,094,895
Ensembl chr 2:26,014,970...26,103,402 		JBrowse link
Lesch-Nyhan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Lesch-Nyhan syndrome OMIM
ClinVar		 PMID:1301916 PMID:1434518 PMID:1551676 PMID:1618489 PMID:1639405 More... NCBI chr  X:110,321,144...110,357,902
Ensembl chr  X:110,321,204...110,357,894 		JBrowse link
G XDH xanthine dehydrogenase treatment ISO RGD PMID:17697859 RGD:7247657 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169 		JBrowse link
Lesch-Nyhan Syndrome, Neurologic Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant ClinVar PMID:1301916 PMID:2358296 PMID:10737990 PMID:17454734 PMID:20981450 More... NCBI chr  X:110,321,144...110,357,902
Ensembl chr  X:110,321,204...110,357,894 		JBrowse link
leukocyte adhesion deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FERMT3 FERM domain containing kindlin 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:7,886,781...7,909,892
Ensembl chr 2:7,886,790...7,909,158 		JBrowse link
G ITGB2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency ClinVar NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107 		JBrowse link
leukocyte adhesion deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FERMT3 FERM domain containing kindlin 3 ISO DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human) RGD PMID:19064721 RGD:11352306 NCBI chr 2:7,886,781...7,909,892
Ensembl chr 2:7,886,790...7,909,158 		JBrowse link
G ITGB2 integrin subunit beta 2 susceptibility ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1
DNA:polymorphisms:multiple (human)		 OMIM
ClinVar
RGD		 PMID:1346132 PMID:1346613 PMID:1347532 PMID:1590804 PMID:1694220 More... RGD:6482224 NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: LEUKOCYTE ADHESION DEFICIENCY, TYPE I ClinVar PMID:9536098 PMID:17576681 PMID:25589632 PMID:26639818 PMID:27493940 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
leukocyte adhesion deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHNAK AHNAK nucleoprotein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,186,984...9,216,450 JBrowse link
G ARL2 ADP ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,157,963...7,167,024
Ensembl chr 2:7,157,918...7,167,212 		JBrowse link
G ASRGL1 asparaginase and isoaspartyl peptidase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,328,260...9,353,384
Ensembl chr 2:9,328,269...9,353,340 		JBrowse link
G ATG2A autophagy related 2A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,261,819...7,282,614
Ensembl chr 2:7,262,031...7,282,347 		JBrowse link
G ATL3 atlastin GTPase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,361,579...8,408,920
Ensembl chr 2:8,361,774...8,408,917 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,119,621...9,125,081
Ensembl chr 2:9,119,656...9,125,061 		JBrowse link
G BAD BCL2 associated agonist of cell death ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,831,192...7,842,864
Ensembl chr 2:7,830,920...7,842,863 		JBrowse link
G BATF2 basic leucine zipper ATF-like transcription factor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,180,019...7,188,996
Ensembl chr 2:7,180,259...7,188,989 		JBrowse link
G BEST1 bestrophin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,538,082...9,550,975
Ensembl chr 2:9,538,085...9,549,873 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886 		JBrowse link
G CAPN1 calpain 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:6,997,513...7,024,410
Ensembl chr 2:6,997,985...7,022,684 		JBrowse link
G CATSPERZ catsper channel auxiliary subunit zeta ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,813,296...7,817,327 JBrowse link
G CBLIF cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,655,726...11,674,357
Ensembl chr 2:11,655,767...11,674,302 		JBrowse link
G CCDC86 coiled-coil domain containing 86 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,895,649...10,906,196
Ensembl chr 2:10,895,652...10,906,119 		JBrowse link
G CCDC88B coiled-coil domain containing 88B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,767,924...7,784,625 JBrowse link
G CD5 CD5 molecule ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,648,973...10,673,479
Ensembl chr 2:10,648,974...10,673,919 		JBrowse link
G CD6 CD6 molecule ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,739,560...10,785,548
Ensembl chr 2:10,738,471...10,785,516 		JBrowse link
G CDC42BPG CDC42 binding protein kinase gamma ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,328,231...7,347,551
Ensembl chr 2:7,328,156...7,347,451 		JBrowse link
G CDCA5 cell division cycle associated 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,103,648...7,112,772
Ensembl chr 2:7,103,673...7,113,202 		JBrowse link
G CHRM1 cholinergic receptor muscarinic 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,858,765...8,872,042 JBrowse link
G COX8A cytochrome c oxidase subunit 8A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,101,609...8,103,313
Ensembl chr 2:8,101,613...8,103,285 		JBrowse link
G CPSF7 cleavage and polyadenylation specific factor 7 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,087,581...10,112,929
Ensembl chr 2:10,087,632...10,115,076 		JBrowse link
G CSKMT citrate synthase lysine methyltransferase ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,082,704...9,084,158
Ensembl chr 2:9,079,511...9,084,164 		JBrowse link
G CYB561A3 cytochrome b561 family member A3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,142,102...10,159,160
Ensembl chr 2:10,142,960...10,157,001 		JBrowse link
G DAGLA diacylglycerol lipase alpha ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,802,011...9,863,808
Ensembl chr 2:9,802,012...9,863,865 		JBrowse link
G DDB1 damage specific DNA binding protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,171,554...10,201,602
Ensembl chr 2:10,171,502...10,201,598 		JBrowse link
G DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,876,587...7,880,908
Ensembl chr 2:7,876,590...7,880,587 		JBrowse link
G DTX4 deltex E3 ubiquitin ligase 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:12,197,943...12,237,884
Ensembl chr 2:12,199,231...12,237,615 		JBrowse link
G EEF1G eukaryotic translation elongation factor 1 gamma ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,163,220...9,173,400
Ensembl chr 2:9,163,320...9,174,469 		JBrowse link
G EHD1 EH domain containing 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,299,295...7,321,580
Ensembl chr 2:7,298,208...7,321,576 		JBrowse link
G EML3 EMAP like 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,127,680...9,137,651
Ensembl chr 2:9,127,698...9,137,653 		JBrowse link
G ESRRA estrogen related receptor alpha ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,803,504...7,812,868
Ensembl chr 2:7,803,510...7,813,098 		JBrowse link
G FADS1 fatty acid desaturase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,735,425...9,747,405
Ensembl chr 2:9,735,322...9,750,506 		JBrowse link
G FADS2 fatty acid desaturase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,633,941...9,666,666
Ensembl chr 2:9,629,423...9,735,576 		JBrowse link
G FADS3 fatty acid desaturase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,607,627...9,627,352
Ensembl chr 2:9,607,576...9,627,315 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:12,250,529...12,263,497
Ensembl chr 2:12,250,538...12,260,985 		JBrowse link
G FEN1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,752,004...9,756,863
Ensembl chr 2:9,752,013...9,756,728 		JBrowse link
G FERMT3 FERM domain containing kindlin 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 OMIM
ClinVar		 PMID:9536098 PMID:12511588 PMID:16199547 PMID:17576681 PMID:18779414 More... NCBI chr 2:7,886,781...7,909,892
Ensembl chr 2:7,886,790...7,909,158 		JBrowse link
G FKBP2 FKBP prolyl isomerase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,868,229...7,871,184
Ensembl chr 2:7,868,230...7,871,097 		JBrowse link
G FLRT1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,971,782...8,052,572
Ensembl chr 2:7,976,567...7,991,150 		JBrowse link
G FTH1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,535,051...9,537,979 JBrowse link
G GANAB glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,100,672...9,118,396
Ensembl chr 2:9,100,702...9,118,390 		JBrowse link
G GNG3 G protein subunit gamma 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,053,099...9,055,070 JBrowse link
G GPHA2 glycoprotein hormone subunit alpha 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,245,287...7,248,268
Ensembl chr 2:7,247,069...7,247,932 		JBrowse link
G GPR137 G protein-coupled receptor 137 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,826,454...7,831,010
Ensembl chr 2:7,826,456...7,830,969 		JBrowse link
G HNRNPUL2 heterogeneous nuclear ribonucleoprotein U like 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,034,669...9,048,906
Ensembl chr 2:9,034,667...9,048,768 		JBrowse link
G INCENP inner centromere protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,411,942...9,445,825
Ensembl chr 2:9,411,942...9,445,821 		JBrowse link
G INTS5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,095,646...9,100,487
Ensembl chr 2:9,095,633...9,100,307 		JBrowse link
G ITGB2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:25741868 NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107 		JBrowse link
G KCNK4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,817,062...7,824,390
Ensembl chr 2:7,817,342...7,823,927 		JBrowse link
G LGALS12 galectin 12 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,454,362...8,475,360
Ensembl chr 2:8,463,402...8,475,162 		JBrowse link
G LOC100512212 oocyte-secreted protein 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,426,042...11,433,511
Ensembl chr 2:11,426,961...11,430,363 		JBrowse link
G LOC100513644 olfactory receptor 1052-like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:13,072,234...13,073,371 JBrowse link
G LOC100513779 solute carrier family 22 member 9 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,580,673...8,603,553 JBrowse link
G LOC100515525 olfactory receptor 4D11 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,964,383...11,965,381
Ensembl chr 2:11,964,446...11,965,381 		JBrowse link
G LOC100515706 olfactory receptor 4D6 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,990,370...11,991,314 JBrowse link
G LOC100516243 olfactory receptor 5AN1-like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532
G LOC100521428 olfactory receptor 10V1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,783,066...11,784,022
Ensembl chr 2:11,783,066...11,784,022 		JBrowse link
G LOC100524972 membrane-spanning 4-domains subfamily A member 6A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,373,408...11,383,704 JBrowse link
G LOC100737875 solute carrier family 22 member 10-like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,734,036...8,750,828 JBrowse link
G LOC102164585 solute carrier family 22 member 9-like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,512,804...8,534,321 JBrowse link
G LOC110258207 olfactory receptor 4D9-like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532
G LOC110259087 olfactory receptor 4D9-like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532
G LOC110259447 olfactory receptor 5A2-like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:12,003,698...12,004,648 JBrowse link
G LRRC10B leucine rich repeat containing 10B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,016,195...10,019,573
Ensembl chr 2:10,016,206...10,018,292 		JBrowse link
G LRRN4CL LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,065,340...9,067,639 JBrowse link
G MACROD1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,939,125...8,087,656
Ensembl chr 2:7,939,125...8,088,595 		JBrowse link
G MAJIN membrane anchored junction protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,209,376...7,244,400 JBrowse link
G MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,365,184...7,378,999
Ensembl chr 2:7,365,246...7,378,996 		JBrowse link
G MARK2 microtubule affinity regulating kinase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,153,870...8,216,141
Ensembl chr 2:8,155,348...8,215,959 		JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952 		JBrowse link
G MIR192 microRNA mir-192 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,285,667...7,285,746
Ensembl chr 2:7,285,667...7,285,746 		JBrowse link
G MPEG1 macrophage expressed 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:12,194,303...12,196,594
Ensembl chr 2:12,194,327...12,198,351 		JBrowse link
G MRPL16 mitochondrial ribosomal protein L16 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,689,511...11,694,248
Ensembl chr 2:11,689,535...11,694,519 		JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,066,514...7,071,812
Ensembl chr 2:7,066,523...7,071,812 		JBrowse link
G MS4A1 membrane spanning 4-domains A1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,216,238...11,229,060
Ensembl chr 2:11,215,901...11,222,914 		JBrowse link
G MS4A10 membrane spanning 4-domains A10 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,940,152...10,953,723
Ensembl chr 2:10,939,535...10,953,658 		JBrowse link
G MS4A12 membrane spanning 4-domains A12 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,177,406...11,193,744
Ensembl chr 2:11,177,412...11,193,661 		JBrowse link
G MS4A13 membrane spanning 4-domains A13 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,125,705...11,163,656
Ensembl chr 2:11,141,853...11,169,012 		JBrowse link
G MS4A14 membrane spanning 4-domains A14 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,269,456...11,291,611 JBrowse link
G MS4A15 membrane spanning 4-domains A15 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,959,559...10,969,433
Ensembl chr 2:10,960,498...10,969,359 		JBrowse link
G MS4A2 membrane spanning 4-domains A2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,400,415...11,420,314
Ensembl chr 2:11,400,420...11,420,298 		JBrowse link
G MS4A4A membrane spanning 4-domains A4A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,226,146...11,368,033 JBrowse link
G MS4A5 membrane spanning 4-domains A5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,234,259...11,261,938
Ensembl chr 2:11,234,294...11,258,449 		JBrowse link
G MS4A7 membrane spanning 4-domains A7 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,295,925...11,320,284
Ensembl chr 2:11,297,334...11,320,130 		JBrowse link
G MS4A8 membrane spanning 4-domains A8 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,989,947...11,007,621
Ensembl chr 2:10,989,969...11,007,621 		JBrowse link
G MTA2 metastasis associated 1 family member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,137,818...9,146,966
Ensembl chr 2:9,137,946...9,146,961 		JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,761,230...9,795,873 JBrowse link
G NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,115,288...8,130,075
Ensembl chr 2:8,115,289...8,129,973 		JBrowse link
G NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,127,197...7,138,420
Ensembl chr 2:7,127,624...7,138,415 		JBrowse link
G NRXN2 neurexin 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,454,771...7,554,180
Ensembl chr 2:7,478,750...7,515,943 		JBrowse link
G NUDT22 nudix hydrolase 22 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,881,056...7,883,825
Ensembl chr 2:7,881,060...7,883,791 		JBrowse link
G NXF1 nuclear RNA export factor 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,968,659...8,983,276
Ensembl chr 2:8,969,581...8,981,984 		JBrowse link
G OSBP oxysterol binding protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,876,294...11,911,660
Ensembl chr 2:11,876,324...11,911,656 		JBrowse link
G OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,088,528...8,095,555
Ensembl chr 2:8,087,829...8,095,609 		JBrowse link
G PATL1 PAT1 homolog 1, processing body mRNA decay factor ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,826,816...11,857,699
Ensembl chr 2:11,827,773...11,857,691 		JBrowse link
G PGA5 pepsinogen 5, group I (pepsinogen A) ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,244,300...10,252,644
Ensembl chr 2:10,244,187...10,252,680 		JBrowse link
G PHEROC pheromaxein C subunit ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,376,019...9,379,433
Ensembl chr 2:9,375,864...9,381,800 		JBrowse link
G PLAAT3 phospholipase A and acyltransferase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,410,540...8,444,604
Ensembl chr 2:8,413,388...8,444,595 		JBrowse link
G PLAAT5 phospholipase A and acyltransferase 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,475,107...8,499,181
Ensembl chr 2:8,479,315...8,500,019 		JBrowse link
G PLCB3 phospholipase C beta 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,844,931...7,860,183
Ensembl chr 2:7,843,340...7,860,193 		JBrowse link
G POLR2G RNA polymerase II subunit G ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,004,388...9,008,631
Ensembl chr 2:9,004,390...9,017,779 		JBrowse link
G PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,865,445...7,867,878
Ensembl chr 2:7,862,661...7,867,876 		JBrowse link
G PPP2R5B protein phosphatase 2 regulatory subunit B'beta ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,248,141...7,256,796
Ensembl chr 2:7,248,151...7,256,427 		JBrowse link
G PRDX5 peroxiredoxin 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,798,672...7,801,955
Ensembl chr 2:7,798,670...7,802,952 		JBrowse link
G PRPF19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,851,779...10,860,315
Ensembl chr 2:10,851,579...10,860,836 		JBrowse link
G PTGDR2 prostaglandin D2 receptor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,891,280...10,897,194
Ensembl chr 2:10,892,011...10,903,017 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,409,330...7,421,256
Ensembl chr 2:7,409,116...7,421,254 		JBrowse link
G RAB3IL1 RAB3A interacting protein like 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,577,334...9,599,988
Ensembl chr 2:9,577,330...9,599,973 		JBrowse link
G RASGRP2 RAS guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,424,805...7,440,404
Ensembl chr 2:7,422,846...7,440,404 		JBrowse link
G RCOR2 REST corepressor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,146,680...8,153,680
Ensembl chr 2:8,148,526...8,153,677 		JBrowse link
G ROM1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,125,377...9,127,615
Ensembl chr 2:9,125,381...9,127,615 		JBrowse link
G RPS6KA4 ribosomal protein S6 kinase A4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,751,965...7,765,301
Ensembl chr 2:7,751,968...7,765,260 		JBrowse link
G RTN3 reticulon 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,291,750...8,354,920 JBrowse link
G SAC3D1 SAC3 domain containing 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,138,409...7,142,294
Ensembl chr 2:7,138,413...7,141,898 		JBrowse link
G SAXO4 stabilizer of axonemal microtubules 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,037,722...10,046,324 JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,297,282...9,302,204
Ensembl chr 2:9,297,283...9,302,165 		JBrowse link
G SCGB1D1 secretoglobin family 1D member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,387,546...9,391,171
Ensembl chr 2:9,387,355...9,391,370 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,074,965...10,088,185
Ensembl chr 2:10,072,920...10,088,117 		JBrowse link
G SF1 splicing factor 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,391,295...7,404,693
Ensembl chr 2:7,391,383...7,404,948 		JBrowse link
G SLC15A3 solute carrier family 15 member 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,799,927...10,814,363
Ensembl chr 2:10,800,503...10,814,389 		JBrowse link
G SLC22A11 solute carrier family 22 member 11 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,590,391...7,603,567
Ensembl chr 2:7,590,391...7,603,116 		JBrowse link
G SLC22A12 solute carrier family 22 member 12 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,557,822...7,565,801
Ensembl chr 2:7,558,535...7,565,751 		JBrowse link
G SLC22A6 solute carrier family 22 member 6 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,809,547...8,817,124
Ensembl chr 2:8,802,349...8,817,337 		JBrowse link
G SLC22A8 solute carrier family 22 member 8 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,782,030...8,800,998
Ensembl chr 2:8,782,060...8,800,997 		JBrowse link
G SLC3A2 solute carrier family 3 member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,892,071...8,919,070
Ensembl chr 2:8,892,089...8,919,072 		JBrowse link
G SNX15 sorting nexin 15 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,143,072...7,155,203
Ensembl chr 2:7,142,291...7,158,868 		JBrowse link
G SPDYC speedy/RINGO cell cycle regulator family member C ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,030,881...7,059,455
Ensembl chr 2:7,030,733...7,058,967 		JBrowse link
G SPINDOC spindlin interactor and repressor of chromatin binding ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,227,335...8,239,508
Ensembl chr 2:8,226,058...8,239,459 		JBrowse link
G STIP1 stress induced phosphoprotein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,911,443...7,939,000
Ensembl chr 2:7,911,445...7,939,005 		JBrowse link
G STX3 syntaxin 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,694,788...11,739,858
Ensembl chr 2:11,696,913...11,740,744 		JBrowse link
G STX5 syntaxin 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,937,705...8,968,513
Ensembl chr 2:8,937,778...8,968,932 		JBrowse link
G SYT7 synaptotagmin 7 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,947,962...10,012,713
Ensembl chr 2:9,947,925...10,012,496 		JBrowse link
G SYVN1 synoviolin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,070,903...7,072,811
Ensembl chr 2:7,070,906...7,072,809 		JBrowse link
G SYVN1 synoviolin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,059,444...7,066,617
Ensembl chr 2:7,059,462...7,066,601 		JBrowse link
G TAF6L TATA-box binding protein associated factor 6 like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,983,823...8,999,990
Ensembl chr 2:8,985,628...9,000,121 		JBrowse link
G TCN1 transcobalamin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:11,633,377...11,646,261
Ensembl chr 2:11,633,387...11,646,251 		JBrowse link
G TKFC triokinase and FMN cyclase ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,158,183...10,171,452
Ensembl chr 2:10,158,188...10,171,449 		JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,076,778...7,081,502
Ensembl chr 2:7,075,068...7,081,432 		JBrowse link
G TMEM109 transmembrane protein 109 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,828,644...10,837,124
Ensembl chr 2:10,828,652...10,837,062 		JBrowse link
G TMEM132A transmembrane protein 132A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,814,305...10,827,851
Ensembl chr 2:10,814,307...10,824,894 		JBrowse link
G TMEM138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,134,866...10,143,049
Ensembl chr 2:10,131,633...10,143,038 		JBrowse link
G TMEM179B transmembrane protein 179B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,983,822...8,986,106
Ensembl chr 2:8,983,759...8,986,080 		JBrowse link
G TMEM216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,107,598...10,122,266
Ensembl chr 2:10,115,607...10,121,649 		JBrowse link
G TMEM223 transmembrane protein 223 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,982,125...8,983,273
Ensembl chr 2:8,981,963...8,983,263 		JBrowse link
G TMEM258 transmembrane protein 258 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,756,970...9,760,615
Ensembl chr 2:9,757,033...9,760,895 		JBrowse link
G TRMT112 tRNA methyltransferase activator subunit 11-2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,802,184...7,803,556
Ensembl chr 2:7,802,275...7,803,552 		JBrowse link
G TRPT1 tRNA phosphotransferase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,876,028...7,887,589
Ensembl chr 2:7,883,945...7,888,133 		JBrowse link
G TTC9C tetratricopeptide repeat domain 9C ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,023,692...9,034,558
Ensembl chr 2:9,024,477...9,033,968 		JBrowse link
G TUT1 terminal uridylyl transferase 1, U6 snRNA-specific ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,148,563...9,161,918
Ensembl chr 2:9,148,560...9,161,905 		JBrowse link
G UBXN1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,072,549...9,075,595
Ensembl chr 2:9,072,968...9,075,594 		JBrowse link
G UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,077,055...9,078,649
Ensembl chr 2:9,074,784...9,078,541 		JBrowse link
G VEGFB vascular endothelial growth factor B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,872,873...7,876,149
Ensembl chr 2:7,872,870...7,876,118 		JBrowse link
G VPS37C VPS37C subunit of ESCRT-I ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,614,198...10,643,545
Ensembl chr 2:10,632,927...10,643,539 		JBrowse link
G VPS51 VPS51 subunit of GARP complex ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,081,607...7,094,898
Ensembl chr 2:7,081,608...7,098,641 		JBrowse link
G VWCE von Willebrand factor C and EGF domains ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:10,206,010...10,240,493
Ensembl chr 2:10,206,012...10,240,148 		JBrowse link
G WDR74 WD repeat domain 74 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,931,530...8,936,908
Ensembl chr 2:8,931,495...8,936,906 		JBrowse link
G ZBTB3 zinc finger and BTB domain containing 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:9,017,560...9,021,244 JBrowse link
G ZFPL1 zinc finger protein like 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,099,227...7,103,581
Ensembl chr 2:7,098,766...7,103,536 		JBrowse link
G ZFTA zinc finger translocation associated ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:8,282,040...8,292,265
Ensembl chr 2:8,282,127...8,288,190 		JBrowse link
G ZNHIT2 zinc finger HIT-type containing 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:7,074,657...7,076,657
Ensembl chr 2:7,075,360...7,076,644 		JBrowse link
linear skin defects with multiple congenital anomalies 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX7B cytochrome c oxidase subunit 7B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:61,962,383...61,969,011
Ensembl chr  X:61,962,412...61,970,152 		JBrowse link
G HCCS holocytochrome c synthase ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 OMIM
ClinVar		 PMID:16059943 PMID:17033964 PMID:17893649 PMID:25741868 NCBI chr  X:7,882,609...7,894,489
Ensembl chr  X:7,882,723...7,894,481 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 ClinVar PMID:25741868 PMID:25772934 NCBI chr  X:41,770,929...41,773,879
Ensembl chr  X:41,770,941...41,774,245 		JBrowse link
linear skin defects with multiple congenital anomalies 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX7B cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 OMIM
ClinVar		 PMID:9747372 PMID:23122588 PMID:25741868 PMID:28492532 NCBI chr  X:61,962,383...61,969,011
Ensembl chr  X:61,962,412...61,970,152 		JBrowse link
linear skin defects with multiple congenital anomalies 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: LINEAR SKIN DEFECTS WITH CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 3 OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:25772934 PMID:26741492 PMID:27488349 More... NCBI chr  X:41,770,929...41,773,879
Ensembl chr  X:41,770,941...41,774,245 		JBrowse link
Lisch epithelial corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Lisch epithelial corneal dystrophy OMIM
ClinVar		 PMID:1621784 PMID:11030752 PMID:11317355 PMID:12182165 PMID:21763169 More... NCBI chr 2:71,602,888...71,613,331
Ensembl chr 2:71,602,770...71,613,312 		JBrowse link
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 More... NCBI chr  X:91,317,671...91,644,572
Ensembl chr  X:91,323,764...91,644,567 		JBrowse link
low molecular weight proteinuria with hypercalciuric nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis OMIM
ClinVar		 PMID:7915957 PMID:8559248 PMID:9062355 PMID:9187673 PMID:9734595 More... NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,628...43,811,526 		JBrowse link
Lubs Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor ISO ClinVar Annotator: match by term: Type I familial incomplete male pseudohermaphroditism ClinVar PMID:2594783 PMID:16804045 PMID:25326637 PMID:25740850 PMID:25741868 More... NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
MASA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr 5:63,782,159...63,795,648
Ensembl chr 5:63,782,162...63,795,648 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome OMIM
ClinVar		 PMID:1303258 PMID:1870106 PMID:3460961 PMID:7493978 PMID:7562969 More... NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
McLeod syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome OMIM
ClinVar		 PMID:8004674 PMID:8619554 PMID:10426139 PMID:11261514 PMID:11703337 More... NCBI chr  X:33,544,287...33,602,576
Ensembl chr  X:33,544,731...33,602,574 		JBrowse link
Meester-Loeys syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Meester-Loeys syndrome ClinVar PMID:27632686 NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: BGN-related condition | ClinVar Annotator: match by term: Meester-Loeys syndrome OMIM
ClinVar		 PMID:9536098 PMID:17502576 PMID:17576681 PMID:25741868 PMID:27632686 More... NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
megalocornea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRDL1 chordin like 1 ISO ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea ClinVar PMID:22284829 PMID:25093588 PMID:25712132 PMID:25741868 PMID:26938784 NCBI chr  X:90,703,422...90,827,216
Ensembl chr  X:90,703,428...90,827,210 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 ISO associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) RGD PMID:22025892 RGD:156451371 NCBI chr 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502 		JBrowse link
MEHMO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2S3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: MEHMO syndrome OMIM
ClinVar		 PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 NCBI chr  X:20,129,708...20,162,881
Ensembl chr  X:20,146,933...20,162,702 		JBrowse link
Melnick-Needles syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: Melnick-Needles osteodysplasty | ClinVar Annotator: match by term: Melnick-Needles syndrome | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles OMIM
ClinVar		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,695,050...124,699,349 JBrowse link
MEND syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: MALE EBP DISORDER WITH NEUROLOGIC DEFECTS | ClinVar Annotator: match by term: MEND syndrome OMIM
ClinVar		 PMID:11038443 PMID:12503101 PMID:12966533 PMID:18414213 PMID:20949533 More... NCBI chr  X:42,670,592...42,678,571
Ensembl chr  X:42,670,633...42,678,570 		JBrowse link
Menkes disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha severity ISO ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes kinky-hair syndrome
ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes kinky-hair syndrome
DNA:duplication:exon:		 OMIM
ClinVar
RGD		 PMID:7842019 PMID:7977350 PMID:8528242 PMID:8812725 PMID:8981948 More... RGD:12879459 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:61,962,383...61,969,011
Ensembl chr  X:61,962,412...61,970,152 		JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,708...89,463,476 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:25741868 NCBI chr 3:57,423,894...57,506,247
Ensembl chr 3:57,423,943...57,506,245 		JBrowse link
G LOX lysyl oxidase ISO OMIM:309400 RGD
MouseDO		 PMID:8638917 RGD:1581895 NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594 		JBrowse link
G MAGT1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:61,894,237...61,958,511
Ensembl chr  X:61,894,965...61,958,517 		JBrowse link
G PGK1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:62,187,472...62,210,321
Ensembl chr  X:62,187,434...62,210,705 		JBrowse link
methylmalonic acidemia and homocysteinemia cblX type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPT centromere protein T ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr 6:28,450,568...28,456,620
Ensembl chr 6:28,450,569...28,456,229 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 OMIM
ClinVar		 PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 More... NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G THAP11 THAP domain containing 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr 6:28,465,458...28,466,387
Ensembl chr 6:28,465,208...28,467,074 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,695,050...124,699,349 JBrowse link
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LTBP2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma OMIM
ClinVar		 PMID:19361779 PMID:19656777 PMID:20179738 PMID:21081970 PMID:22025892 More... NCBI chr 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502 		JBrowse link
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMMECR1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis OMIM
ClinVar		 PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 More... NCBI chr  X:90,304,918...90,420,207
Ensembl chr  X:90,307,187...90,420,168 		JBrowse link
G RTL9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:90,553,099...90,565,001
Ensembl chr  X:90,559,021...90,565,035 		JBrowse link
G TMEM164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar PMID:21681106 PMID:27811305 PMID:28089922 NCBI chr  X:90,105,293...90,289,674
Ensembl chr  X:90,106,036...90,289,669 		JBrowse link
Miles-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZC4H2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability OMIM
ClinVar		 PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:51,157,102...51,193,993
Ensembl chr  X:51,157,105...51,193,980 		JBrowse link
mucopolysaccharidosis II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDS iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, severe form OMIM
ClinVar		 PMID:1284597 PMID:1303211 PMID:1355630 PMID:1550586 PMID:1639384 More... NCBI chr  X:121,572,797...121,596,525
Ensembl chr  X:121,572,807...121,596,513 		JBrowse link
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II ClinVar PMID:25741868 NCBI chr 8:334,604...351,970
Ensembl chr 8:334,617...351,969 		JBrowse link
Mullegama-Klein-Martinez syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SH2D1A SH2 domain containing 1A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:101,824,602...101,847,265
Ensembl chr  X:101,824,367...101,849,671 		JBrowse link
G STAG2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Mullegama-Klein-Martinez syndrome | ClinVar Annotator: match by term: STAG2-related disorder OMIM
ClinVar		 PMID:25741868 PMID:28296084 PMID:28492532 PMID:29263825 PMID:30158690 More... NCBI chr  X:101,476,117...101,617,405
Ensembl chr  X:101,478,247...101,617,563 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,093,242...12,151,286 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:12,367,785...12,397,672
Ensembl chr  X:12,367,795...12,397,677 		JBrowse link
G ASB11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,842,855...11,871,040
Ensembl chr  X:11,842,855...11,868,793 		JBrowse link
G ASB9 ankyrin repeat and SOCS box containing 9 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,800,546...11,828,251
Ensembl chr  X:11,799,636...11,828,000 		JBrowse link
G BMX BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:12,044,110...12,096,042
Ensembl chr  X:12,044,386...12,096,039 		JBrowse link
G CA5B carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:12,295,393...12,332,283
Ensembl chr  X:12,224,159...12,365,025 		JBrowse link
G CLTRN collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:12,183,793...12,215,474
Ensembl chr  X:12,183,796...12,224,964 		JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,386,360...11,408,958
Ensembl chr  X:11,384,912...11,409,057 		JBrowse link
G MOSPD2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,409,157...11,473,969
Ensembl chr  X:11,409,107...11,473,964 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chr  X:11,871,746...11,886,519
Ensembl chr  X:11,871,750...11,886,438 		JBrowse link
G PIR pirin ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,934,157...12,034,629
Ensembl chr  X:11,934,163...12,033,746 		JBrowse link
G VEGFD vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:11,893,254...11,933,923
Ensembl chr  X:11,893,259...11,933,809 		JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:12,336,635...12,365,071
Ensembl chr  X:12,336,677...12,367,227 		JBrowse link
Myopia 26, X-Linked, Female-Limited term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARR3 arrestin 3 ISO ClinVar Annotator: match by term: ARR3-related condition | ClinVar Annotator: match by term: Myopia 26, X-linked, female-limited OMIM
ClinVar		 PMID:25741868 PMID:27829781 PMID:28492532 PMID:33482870 NCBI chr  X:56,295,107...56,310,507
Ensembl chr  X:56,296,596...56,310,506 		JBrowse link
Nance-Horan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,370,327...15,518,746
Ensembl chr  X:15,371,805...15,463,619 		JBrowse link
G BCLAF3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,252,407...16,312,426
Ensembl chr  X:16,252,420...16,312,439 		JBrowse link
G BEND2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,635,795...14,703,934 JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855 		JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,429,625...16,449,581
Ensembl chr  X:16,429,628...16,449,556 		JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,716,898...15,867,377
Ensembl chr  X:15,715,991...15,867,120 		JBrowse link
G MAP7D2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,327,718...16,423,546
Ensembl chr  X:16,327,968...16,422,772 		JBrowse link
G NHS NHS actin remodeling regulator ISO ClinVar Annotator: match by term: NHS-related condition | ClinVar Annotator: match by term: Nance-Horan syndrome OMIM
ClinVar		 PMID:458526 PMID:2246772 PMID:9536098 PMID:14564667 PMID:15466011 More... NCBI chr  X:13,854,950...14,209,085
Ensembl chr  X:14,097,006...14,206,568 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,699,924...15,718,908
Ensembl chr  X:15,700,050...15,718,903 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,279,398...15,365,731
Ensembl chr  X:15,283,120...15,365,565 		JBrowse link
G PPEF1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,111,230...15,251,415
Ensembl chr  X:15,138,350...15,251,228 		JBrowse link
G RAI2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,246,776...14,633,071
Ensembl chr  X:14,244,317...14,309,143 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,452,401...16,576,854
Ensembl chr  X:16,452,405...16,576,859 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243 		JBrowse link
G SCML1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,210,164...14,222,053 JBrowse link
G SCML2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,715,357...14,823,016
Ensembl chr  X:14,717,606...14,823,413 		JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,887,131...16,229,212
Ensembl chr  X:15,885,069...16,224,183 		JBrowse link
nephrogenic syndrome of inappropriate antidiuresis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis OMIM
ClinVar		 PMID:1303257 PMID:7920187 PMID:7984150 PMID:8037205 PMID:8104196 More... NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,885,584...43,895,142
Ensembl chr  X:43,885,394...43,895,981 		JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,078,202...42,090,250
Ensembl chr  X:42,078,206...42,090,250 		JBrowse link
G BMP15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:44,613,122...44,620,575
Ensembl chr  X:44,613,122...44,620,575 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,250,449...43,284,458
Ensembl chr  X:43,251,370...43,283,990 		JBrowse link
G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,128,938...43,146,777
Ensembl chr  X:43,134,275...43,146,775 		JBrowse link
G CCDC22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,285,232...43,303,865
Ensembl chr  X:43,285,246...43,303,864 		JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,922,729...43,988,939
Ensembl chr  X:43,922,804...43,990,929 		JBrowse link
G CDK16 cyclin dependent kinase 16 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:41,836,268...41,848,580
Ensembl chr  X:41,835,987...41,848,574 		JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,145,754...42,152,879
Ensembl chr  X:42,143,697...42,152,868 		JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,157,980...42,174,964
Ensembl chr  X:42,157,988...42,174,951 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,628...43,811,526 		JBrowse link
G DGKK diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:44,001,172...44,180,142
Ensembl chr  X:44,001,176...44,180,179 		JBrowse link
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,670,592...42,678,571
Ensembl chr  X:42,670,633...42,678,570 		JBrowse link
G ERAS ES cell expressed Ras ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,942,033...42,946,715
Ensembl chr  X:42,941,664...42,946,524 		JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,609,560...42,620,198
Ensembl chr  X:42,609,771...42,620,284 		JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976 		JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,877,034...42,889,285
Ensembl chr  X:42,877,140...42,889,271 		JBrowse link
G GPKOW G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,177,264...43,192,021
Ensembl chr  X:43,177,272...43,191,830 		JBrowse link
G GRIPAP1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,043,613...43,070,363
Ensembl chr  X:43,043,029...43,070,364 		JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887 		JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,032,355...43,043,310
Ensembl chr  X:43,032,358...43,041,760 		JBrowse link
G LOC100513450 P antigen family member 4 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,489,559...43,496,654
Ensembl chr  X:43,446,109...43,494,094 		JBrowse link
G MAGIX MAGI family member, X-linked ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,206,680...43,212,889
Ensembl chr  X:43,207,062...43,211,635 		JBrowse link
G MIR532 microRNA mir-532 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,705,258...43,705,337
Ensembl chr  X:43,705,258...43,705,337 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:41,770,929...41,773,879
Ensembl chr  X:41,770,941...41,774,245 		JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:43,001,491...43,029,471
Ensembl chr  X:43,000,231...43,029,468 		JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,947,688...42,952,222
Ensembl chr  X:42,947,692...42,949,024 		JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,993,547...42,998,575
Ensembl chr  X:42,993,551...42,998,573 		JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,215,372...43,218,318
Ensembl chr  X:43,215,283...43,218,316 		JBrowse link
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,653,696...42,669,526
Ensembl chr  X:42,653,789...42,669,517 		JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,328,199...43,344,503
Ensembl chr  X:43,328,274...43,344,013 		JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,976,086...42,981,732
Ensembl chr  X:42,975,413...42,981,724 		JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,147,473...43,150,350 JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,218,271...43,230,368
Ensembl chr  X:43,218,277...43,230,367 		JBrowse link
G RBM10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:41,773,232...41,803,656
Ensembl chr  X:41,773,232...41,803,653 		JBrowse link
G RBM3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,704,019...42,707,587
Ensembl chr  X:42,704,028...42,707,577 		JBrowse link
G SHROOM4 shroom family member 4 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:44,301,956...44,543,969
Ensembl chr  X:44,332,620...44,543,337 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,981,801...42,992,091
Ensembl chr  X:42,981,802...42,992,081 		JBrowse link
G SLC38A5 solute carrier family 38 member 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,590,608...42,601,537
Ensembl chr  X:42,590,607...42,601,502 		JBrowse link
G SPACA5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,476,719...42,478,783
Ensembl chr  X:42,476,587...42,478,921 		JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,797,309...42,811,457
Ensembl chr  X:42,797,828...42,811,461 		JBrowse link
G SYN1 synapsin I ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,090,245...42,142,254
Ensembl chr  X:42,090,246...42,142,224 		JBrowse link
G SYP synaptophysin ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,232,190...43,246,764
Ensembl chr  X:43,232,192...43,246,680 		JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,682,267...42,696,579
Ensembl chr  X:42,682,269...42,696,574 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,100,375...43,116,377
Ensembl chr  X:43,100,032...43,116,227 		JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,970,586...42,976,287
Ensembl chr  X:42,970,108...42,975,955 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:41,810,726...41,832,818
Ensembl chr  X:41,814,101...41,832,812 		JBrowse link
G USP11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:41,851,534...41,866,357
Ensembl chr  X:41,851,602...41,866,355 		JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:43,553,454...43,557,247
Ensembl chr  X:43,555,005...43,556,321 		JBrowse link
G UXT ubiquitously expressed prefoldin like chaperone ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,176,142...42,184,131
Ensembl chr  X:42,176,145...42,184,079 		JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,774,597...42,793,055
Ensembl chr  X:42,774,588...42,793,055 		JBrowse link
G WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,715,097...42,730,200
Ensembl chr  X:42,722,730...42,730,199 		JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 | ClinVar Annotator: match by term: STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22892189 PMID:23176820 More... NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,477...43,156,234 		JBrowse link
G ZNF157 zinc finger protein 157 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:41,905,319...41,921,484
Ensembl chr  X:41,905,226...41,920,880 		JBrowse link
G ZNF182 zinc finger protein 182 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,444,227...42,473,308
Ensembl chr  X:42,444,230...42,473,285 		JBrowse link
G ZNF41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:41,931,036...41,984,439
Ensembl chr  X:41,934,977...41,984,595 		JBrowse link
G ZNF630 zinc finger protein 630 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,518,203...42,540,677
Ensembl chr  X:42,518,211...42,540,232 		JBrowse link
G ZNF81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:42,246,548...42,372,191
Ensembl chr  X:42,246,751...42,468,024 		JBrowse link
non-syndromic X-linked intellectual developmental disorder 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLITRK2 SLIT and NTRK like family member 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 111 OMIM
ClinVar		 PMID:25741868 PMID:35840571 NCBI chr  X:118,826,531...118,837,134
Ensembl chr  X:118,830,086...118,834,307 		JBrowse link
non-syndromic X-linked intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSL4 acyl-CoA synthetase long chain family member 4 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:89,760,863...89,838,103
Ensembl chr  X:89,760,866...89,806,274 		JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:111,796,485...111,917,195
Ensembl chr  X:111,796,485...111,917,174 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25741868 NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G BRWD3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:28492532 NCBI chr  X:64,239,640...64,403,889
Ensembl chr  X:64,242,775...64,403,844 		JBrowse link
G DLG3 discs large MAGUK scaffold protein 3 ISO OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 MouseDO NCBI chr  X:56,471,941...56,531,481
Ensembl chr  X:56,472,307...56,527,983 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25741868 NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 ISO DNA:missense mutation:cds:p.P312L (human) RGD PMID:11940089 RGD:11554032 NCBI chr  X:47,191,838...47,231,656
Ensembl chr  X:47,192,427...47,231,342 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25741868 NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:18252223 PMID:19377476 PMID:25741868 PMID:28492532 PMID:29118367 NCBI chr  X:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228 		JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:24,408,092...25,811,129
Ensembl chr  X:24,409,327...25,806,680 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 MouseDO NCBI chr  X:46,011,386...46,094,978
Ensembl chr  X:46,011,388...46,094,817 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:15351775 PMID:26605526 PMID:27247049 PMID:29618507 PMID:32043567 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G PAK3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25741868 NCBI chr  X:90,941,976...91,244,331
Ensembl chr  X:90,942,077...91,238,565 		JBrowse link
G POF1B POF1B actin binding protein ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:68,503,170...68,579,917
Ensembl chr  X:68,503,179...68,579,893 		JBrowse link
G PTCHD1 patched domain containing 1 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:19,508,501...19,563,298
Ensembl chr  X:19,507,739...19,561,828 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
G RLIM ring finger protein, LIM domain interacting ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25735484 PMID:25741868 NCBI chr  X:59,889,799...59,920,464
Ensembl chr  X:59,893,146...59,920,182 		JBrowse link
G ZNF41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:41,931,036...41,984,439
Ensembl chr  X:41,934,977...41,984,595 		JBrowse link
G ZNF674 zinc finger protein 674 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:41,090,146...41,118,627 JBrowse link
G ZNF711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:68,475,512...68,499,329
Ensembl chr  X:68,475,636...68,499,321 		JBrowse link
G ZNF81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:42,246,548...42,372,191
Ensembl chr  X:42,246,751...42,468,024 		JBrowse link
non-syndromic X-linked intellectual disability 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,548...46,220,883 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78 OMIM
ClinVar		 PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9536098 More... NCBI chr  X:46,011,386...46,094,978
Ensembl chr  X:46,011,388...46,094,817 		JBrowse link
G KDM5C lysine demethylase 5C ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:45,968,812...46,003,215
Ensembl chr  X:45,968,814...46,003,215 		JBrowse link
G MIR98 microRNA mir-98 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:46,302,381...46,302,460
Ensembl chr  X:46,302,381...46,302,460 		JBrowse link
G MIRLET7F-1 microRNA let-7f-1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:46,303,245...46,303,327
Ensembl chr  X:46,303,245...46,303,327 		JBrowse link
G RIBC1 RIB43A domain with coiled-coils 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:46,202,213...46,218,691
Ensembl chr  X:46,208,669...46,218,382 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 ClinVar PMID:19052029 PMID:23683030 PMID:26059843 PMID:28492532 NCBI chr  X:46,143,738...46,202,187
Ensembl chr  X:46,144,920...46,218,543 		JBrowse link
non-syndromic X-linked intellectual disability 100 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF4A kinesin family member 4A ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 100 OMIM
ClinVar		 PMID:24812067 PMID:25741868 PMID:28492532 PMID:34346154 NCBI chr  X:56,319,453...56,447,560
Ensembl chr  X:56,319,529...56,447,553 		JBrowse link
non-syndromic X-linked intellectual disability 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MID2 midline 2 ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 101 OMIM
ClinVar		 PMID:24115387 PMID:25741868 NCBI chr  X:88,294,032...88,394,885
Ensembl chr  X:88,294,067...88,393,742 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 101 ClinVar PMID:25741868 NCBI chr  X:36,736,049...36,888,702
Ensembl chr  X:36,760,865...36,885,250 		JBrowse link
non-syndromic X-linked intellectual disability 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL15 kelch like family member 15 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103 OMIM
ClinVar		 PMID:24817631 PMID:25644381 PMID:25741868 NCBI chr  X:20,088,208...20,130,452
Ensembl chr  X:20,091,904...20,129,561 		JBrowse link
non-syndromic X-linked intellectual disability 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 ClinVar NCBI chr  X:7,910,851...8,441,579
Ensembl chr  X:7,910,858...8,120,386 		JBrowse link
G FRMPD4 FERM and PDZ domain containing 4 ISO ClinVar Annotator: match by term: FRMPD4-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 OMIM
ClinVar		 PMID:25644381 PMID:25741868 PMID:25741909 PMID:26394714 PMID:28492532 More... NCBI chr  X:8,625,039...9,451,433
Ensembl chr  X:8,542,382...9,438,821 		JBrowse link
G MSL3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 ClinVar NCBI chr  X:8,519,366...8,535,249
Ensembl chr  X:8,519,370...8,535,249 		JBrowse link
non-syndromic X-linked intellectual disability 105 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USP27X ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105 OMIM
ClinVar		 PMID:25644381 PMID:25741868 PMID:38182161 NCBI chr  X:43,553,454...43,557,247
Ensembl chr  X:43,555,005...43,556,321 		JBrowse link
non-syndromic X-linked intellectual disability 106 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OGT O-linked N-acetylglucosamine (GlcNAc) transferase ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 106 | ClinVar Annotator: match by term: Mental retardation, X-linked 106 OMIM
ClinVar		 PMID:9083067 PMID:12724313 PMID:18818698 PMID:21240259 PMID:24033266 More... NCBI chr  X:57,521,091...57,558,467
Ensembl chr  X:57,521,098...57,558,515 		JBrowse link
non-syndromic X-linked intellectual disability 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STEEP1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 107 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 107 OMIM
ClinVar		 PMID:25741868 PMID:29374277 NCBI chr  X:97,974,596...97,986,281
Ensembl chr  X:97,974,604...97,986,278 		JBrowse link
non-syndromic X-linked intellectual disability 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS6KA3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19 OMIM
ClinVar		 PMID:10319851 PMID:11180593 PMID:17100996 PMID:19377476 PMID:25741868 More... NCBI chr  X:16,452,401...16,576,854
Ensembl chr  X:16,452,405...16,576,859 		JBrowse link
non-syndromic X-linked intellectual disability 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 ISO ClinVar Annotator: match by term: IL1RAPL1-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21 | ClinVar Annotator: match by term: Mental retardation, X-linked 21/34 OMIM
ClinVar		 PMID:8230164 PMID:10471494 PMID:16470793 PMID:18801879 PMID:19012350 More... NCBI chr  X:24,408,092...25,811,129
Ensembl chr  X:24,409,327...25,806,680 		JBrowse link
non-syndromic X-linked intellectual disability 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAK3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 47 OMIM
ClinVar		 PMID:8826460 PMID:9332663 PMID:9731525 PMID:10946356 PMID:12884430 More... NCBI chr  X:90,941,976...91,244,331
Ensembl chr  X:90,942,077...91,238,565 		JBrowse link
non-syndromic X-linked intellectual disability 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41 ClinVar PMID:8826463 PMID:9106537 PMID:9620768 PMID:9668174 PMID:25559331 More... NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
non-syndromic X-linked intellectual disability 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 45 ClinVar PMID:10398246 PMID:15121780 NCBI chr  X:42,246,548...42,372,191
Ensembl chr  X:42,246,751...42,468,024 		JBrowse link
non-syndromic X-linked intellectual disability 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 46 ClinVar PMID:11017088 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr  X:111,796,485...111,917,195
Ensembl chr  X:111,796,485...111,917,174 		JBrowse link
non-syndromic X-linked intellectual disability 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYN1 synapsin I ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50 OMIM
ClinVar		 PMID:9415477 PMID:14985377 PMID:21441247 PMID:25741868 PMID:26467025 More... NCBI chr  X:42,090,245...42,142,254
Ensembl chr  X:42,090,246...42,142,224 		JBrowse link
non-syndromic X-linked intellectual disability 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSPAN7 tetraspanin 7 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58 OMIM
ClinVar		 PMID:10655063 PMID:12376945 PMID:14735593 PMID:25741868 PMID:28492532 NCBI chr  X:34,522,899...34,660,216
Ensembl chr  X:34,522,933...34,660,212 		JBrowse link
non-syndromic X-linked intellectual disability 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSL4 acyl-CoA synthetase long chain family member 4 ISO ClinVar Annotator: match by term: ACSL4-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 68 OMIM
ClinVar		 PMID:11889465 PMID:12525535 PMID:25741868 PMID:28492532 NCBI chr  X:89,760,863...89,838,103
Ensembl chr  X:89,760,866...89,806,274 		JBrowse link
non-syndromic X-linked intellectual disability 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 72 OMIM
ClinVar		 PMID:11050621 PMID:19377476 PMID:20159109 PMID:25741868 PMID:26467025 More... NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
non-syndromic X-linked intellectual disability 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR2 angiotensin II receptor type 2 ISO ClinVar Annotator: match by term: MRX88 ClinVar PMID:12089445 PMID:12746399 PMID:14598163 PMID:14722754 PMID:16283672 More... NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388 		JBrowse link
non-syndromic X-linked intellectual disability 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9 OMIM
ClinVar		 PMID:8288232 PMID:10398246 PMID:15162322 PMID:15342698 PMID:17221867 More... NCBI chr  X:42,609,560...42,620,198
Ensembl chr  X:42,609,771...42,620,284 		JBrowse link
non-syndromic X-linked intellectual disability 90 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLG3 discs large MAGUK scaffold protein 3 ISO ClinVar Annotator: match by term: DLG3-Related Disorder | ClinVar Annotator: match by term: DLG3-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 90 OMIM
ClinVar		 PMID:15185169 PMID:18414213 PMID:23020937 PMID:24721225 PMID:25741868 More... NCBI chr  X:56,471,941...56,531,481
Ensembl chr  X:56,472,307...56,527,983 		JBrowse link
non-syndromic X-linked intellectual disability 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 91 ClinVar PMID:15915161 PMID:25741868 NCBI chr  X:60,485,559...60,585,192
Ensembl chr  X:60,485,565...60,584,784 		JBrowse link
non-syndromic X-linked intellectual disability 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRWD3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: BRWD3-Related Disorder | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY | ClinVar Annotator: match by term: X-linked intellectual developmental disorder-93 OMIM
ClinVar		 PMID:7943039 PMID:17668385 PMID:18414213 PMID:25326637 PMID:25741868 More... NCBI chr  X:64,239,640...64,403,889
Ensembl chr  X:64,242,775...64,403,844 		JBrowse link
non-syndromic X-linked intellectual disability 96 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYP synaptophysin ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96 OMIM
ClinVar		 PMID:19377476 PMID:23966691 PMID:25741868 NCBI chr  X:43,232,190...43,246,764
Ensembl chr  X:43,232,192...43,246,680 		JBrowse link
non-syndromic X-linked intellectual disability 97 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POF1B POF1B actin binding protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 ClinVar NCBI chr  X:68,503,170...68,579,917
Ensembl chr  X:68,503,179...68,579,893 		JBrowse link
G ZNF711 zinc finger protein 711 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 OMIM
ClinVar		 PMID:10398247 PMID:19377476 PMID:25741868 PMID:27993705 PMID:28454995 More... NCBI chr  X:68,475,512...68,499,329
Ensembl chr  X:68,475,636...68,499,321 		JBrowse link
non-syndromic X-linked intellectual disability 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEXMIF neurite extension and migration factor ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 | ClinVar Annotator: match by term: NEXMIF-related condition OMIM
ClinVar		 PMID:15466006 PMID:23615299 PMID:24307393 PMID:25590979 PMID:25741868 More... NCBI chr  X:59,967,712...60,013,938
Ensembl chr  X:59,972,373...60,120,021 		JBrowse link
non-syndromic X-linked intellectual disability 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 ClinVar PMID:25741868 NCBI chr  X:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228 		JBrowse link
G NTF4 neurotrophin 4 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 ClinVar PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533 NCBI chr 6:54,271,244...54,288,846
Ensembl chr 6:54,271,246...54,274,092 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 | ClinVar Annotator: match by term: USP9X-related neurodevelopmental disorder OMIM
ClinVar		 PMID:19377476 PMID:24607389 PMID:25741868 PMID:26833328 PMID:28492532 More... NCBI chr  X:36,736,049...36,888,702
Ensembl chr  X:36,760,865...36,885,250 		JBrowse link
non-syndromic X-linked intellectual disability ARX-related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARX aristaless related homeobox ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 87 | ClinVar Annotator: match by term: Mental retardation, X-linked 52 OMIM
ClinVar		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:21,067,631...21,079,850
Ensembl chr  X:21,067,621...21,079,723 		JBrowse link
nonphotosensitive trichothiodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive ClinVar PMID:25741868 NCBI chr  X:98,219,717...98,223,873
Ensembl chr  X:98,219,988...98,223,868 		JBrowse link
G RNF113A ring finger protein 113A ISO ClinVar Annotator: match by term: RNF113A-related condition | ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive OMIM
ClinVar		 PMID:25612912 PMID:25741868 PMID:28492532 PMID:29144457 PMID:31793730 More... NCBI chr  X:98,218,689...98,219,931
Ensembl chr  X:98,218,565...98,219,773 		JBrowse link
Norrie disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Fetal iritis syndrome ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 9:20,714,995...20,721,460
Ensembl chr 9:20,717,344...20,721,460 		JBrowse link
G NDP norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria OMIM
ClinVar		 PMID:1303235 PMID:1303264 PMID:1307245 PMID:7558002 PMID:7627181 More... NCBI chr  X:39,208,115...39,235,879
Ensembl chr  X:39,208,119...39,235,758 		JBrowse link
G PRSS23 serine protease 23 ISO ClinVar Annotator: match by term: Fetal iritis syndrome ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 9:20,603,676...20,623,358
Ensembl chr 9:20,603,733...20,625,139 		JBrowse link
G TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr18:26,046,645...26,112,924
Ensembl chr18:26,046,703...26,112,918 		JBrowse link
nuclear type mitochondrial complex I deficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 OMIM
ClinVar		 PMID:17262856 PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 More... NCBI chr  X:98,219,717...98,223,873
Ensembl chr  X:98,219,988...98,223,868 		JBrowse link
nuclear type mitochondrial complex I deficiency 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 OMIM
ClinVar		 PMID:25741868 PMID:25772934 PMID:26741492 PMID:27488349 PMID:28050600 More... NCBI chr  X:41,770,929...41,773,879
Ensembl chr  X:41,770,941...41,774,245 		JBrowse link
occipital horn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: Occipital horn syndrome OMIM
ClinVar		 PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:10319589 More... NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
oculocerebrorenal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APLN apelin ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chr  X:106,236,746...106,246,563
Ensembl chr  X:106,236,749...106,246,377 		JBrowse link
G LOC100154405 actin-related protein T1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:104,936,448...104,941,473
Ensembl chr  X:104,937,348...104,938,481 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Lowe syndrome | ClinVar Annotator: match by term: Oculocerebrorenal Syndrome | ClinVar Annotator: match by term: Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency OMIM
ClinVar		 PMID:8504307 PMID:9199559 PMID:9536098 PMID:9632163 PMID:9682219 More... NCBI chr  X:106,124,991...106,188,066
Ensembl chr  X:106,135,431...106,190,110 		JBrowse link
G PRR32 proline rich 32 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:103,813,092...103,815,208
Ensembl chr  X:103,813,405...103,815,193 		JBrowse link
G SASH3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chr  X:106,373,871...106,389,454
Ensembl chr  X:106,373,954...106,389,444 		JBrowse link
G SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:106,039,961...106,116,156
Ensembl chr  X:106,039,969...106,116,139 		JBrowse link
G XPNPEP2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chr  X:106,333,785...106,363,412
Ensembl chr  X:106,333,825...106,362,187 		JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chr  X:106,397,139...106,436,103
Ensembl chr  X:106,401,245...106,436,014 		JBrowse link
Ogden syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Ogden syndrome OMIM
ClinVar		 PMID:18414213 PMID:21700266 PMID:23020937 PMID:25099252 PMID:25326635 More... NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
Opitz GBBB syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MID1 midline 1 ISO ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I OMIM
ClinVar		 PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 More... NCBI chr  X:7,235,386...7,906,049
Ensembl chr  X:7,237,942...7,620,011 		JBrowse link
optic atrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Optic atrophy 2 ClinVar NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,477...43,156,234 		JBrowse link
ornithine carbamoyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6AP2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:36,271,154...36,300,240
Ensembl chr  X:36,271,222...36,304,181 		JBrowse link
G BCOR BCL6 corepressor ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:35,768,013...35,891,013
Ensembl chr  X:35,768,017...35,814,833 		JBrowse link
G CFAP47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:31,879,143...32,331,543 JBrowse link
G CXHXorf38 chromosome X CXorf38 homolog ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:36,330,684...36,351,903
Ensembl chr  X:36,328,653...36,351,826 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G DYNLT3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:33,711,993...33,724,596
Ensembl chr  X:33,711,492...33,724,683 		JBrowse link
G EFHC2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:28492532 NCBI chr  X:39,407,390...39,597,537
Ensembl chr  X:39,403,692...39,597,512 		JBrowse link
G FTHL17 ferritin heavy chain like 17 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:26,955,098...26,956,111
Ensembl chr  X:26,955,098...26,955,649 		JBrowse link
G GK glycerol kinase ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:26,470,422...26,558,892 JBrowse link
G GP91-PHOX NADPH oxidase heavy chain subunit ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,643,648...33,680,580 		JBrowse link
G H2AP H2A.P histone ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:33,889,233...33,890,290 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 treatment ISO RGD PMID:16703326 RGD:12743607 NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690 		JBrowse link
G LANCL3 LanC like family member 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:33,426,731...33,543,506
Ensembl chr  X:33,427,444...33,541,304 		JBrowse link
G LOC100522411 melanoma-associated antigen B16-like ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:31,592,308...31,597,919 JBrowse link
G LOC100624836 protein FAM47E-like ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:33,004,811...33,006,091 JBrowse link
G MED14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:36,354,057...36,424,837
Ensembl chr  X:36,354,061...36,424,715 		JBrowse link
G MID1IP1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:34,763,360...34,766,160
Ensembl chr  X:34,763,355...34,766,076 		JBrowse link
G MPC1L mitochondrial pyruvate carrier 1 like ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:36,325,447...36,331,779
Ensembl chr  X:36,325,996...36,326,472 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:26,117,874...26,122,951
Ensembl chr  X:26,117,874...26,122,951 		JBrowse link
G OTC ornithine transcarbamylase ISO ClinVar Annotator: match by term: OTC deficiency | ClinVar Annotator: match by term: OTC-related condition | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency OMIM
ClinVar		 PMID:1353535 PMID:1480464 PMID:1627356 PMID:1671317 PMID:1721894 More... NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,821 		JBrowse link
G PRRG1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:33,064,499...33,232,556
Ensembl chr  X:33,091,149...33,232,556 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:34,238,961...34,522,814
Ensembl chr  X:34,228,124...34,296,589 		JBrowse link
G SRPX sushi repeat containing protein X-linked ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:34,075,577...34,198,462
Ensembl chr  X:34,075,579...34,198,467 		JBrowse link
G SYTL5 synaptotagmin like 5 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:33,798,296...34,066,127
Ensembl chr  X:33,798,291...34,036,242 		JBrowse link
G TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:26,632,547...26,729,039
Ensembl chr  X:26,632,551...26,729,051 		JBrowse link
G TASL TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:26,363,808...26,384,933
Ensembl chr  X:26,365,027...26,384,760 		JBrowse link
G TMEM47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:30,584,044...30,615,233
Ensembl chr  X:30,584,046...30,615,232 		JBrowse link
G TSPAN7 tetraspanin 7 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:34,522,899...34,660,216
Ensembl chr  X:34,522,933...34,660,212 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:36,736,049...36,888,702
Ensembl chr  X:36,760,865...36,885,250 		JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:33,544,287...33,602,576
Ensembl chr  X:33,544,731...33,602,574 		JBrowse link
orofaciodigital syndrome I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 1 | ClinVar Annotator: match by term: Orofaciodigital syndrome I OMIM
ClinVar		 PMID:9198060 PMID:9482645 PMID:9536098 PMID:11179005 PMID:11950863 More... NCBI chr  X:10,361,403...10,415,502 JBrowse link
G TMEM17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome I ClinVar PMID:25741868 PMID:26982032 NCBI chr 3:79,415,767...79,422,397
Ensembl chr 3:79,415,717...79,422,393 		JBrowse link
osteogenesis imperfecta type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 19 OMIM
ClinVar		 PMID:25741868 PMID:27380894 NCBI chr  X:18,013,360...18,054,250 JBrowse link
otopalatodigital syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: OPD syndrome 1 | ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I OMIM
ClinVar		 PMID:3265608 PMID:6019437 PMID:10982489 PMID:11704759 PMID:11992261 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16783569 NCBI chr  X:10,361,403...10,415,502 JBrowse link
otopalatodigital syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: Andre syndrome | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD 2 syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: Oto-palato-digital syndrome type 2 | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II OMIM
ClinVar		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,695,050...124,699,349 JBrowse link
ovarian dysgenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 2 | ClinVar Annotator: match by term: Premature ovarian failure 4 OMIM
ClinVar		 PMID:15136966 PMID:16464940 PMID:16508750 PMID:16645022 PMID:18614612 More... NCBI chr  X:44,613,122...44,620,575
Ensembl chr  X:44,613,122...44,620,575 		JBrowse link
Paganini-Miozzo syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HS6ST2 heparan sulfate 6-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Paganini-Miozzo syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30471091 NCBI chr  X:108,755,577...109,043,976
Ensembl chr  X:108,757,821...109,044,056 		JBrowse link
Partial Agenesis of Corpus Callosum, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Corpus callosum, partial agenesis of, X-linked OMIM
ClinVar		 PMID:7562969 PMID:7762552 PMID:7920659 PMID:8929944 PMID:9300653 More... NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
partial androgen insensitivity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor ISO ClinVar Annotator: match by term: Androgen insensitivity, partial, with breast cancer | ClinVar Annotator: match by term: Partial androgen insensitivity syndrome | ClinVar Annotator: match by term: Reifenstein syndrome OMIM
ClinVar		 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1598912 PMID:2010552 More... NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
Partington syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARX aristaless related homeobox ISO ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome OMIM
ClinVar		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:21,067,631...21,079,850
Ensembl chr  X:21,067,621...21,079,723 		JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEX1 brain expressed, X-linked 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:84,223,041...84,224,583
Ensembl chr  X:84,222,959...84,224,613 		JBrowse link
G BEX3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:84,300,645...84,302,124
Ensembl chr  X:84,300,645...84,302,119 		JBrowse link
G ESX1 ESX homeobox 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:84,995,241...85,007,557 JBrowse link
G FAM199X family with sequence similarity 199, X-linked ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:84,937,153...84,966,438
Ensembl chr  X:84,937,209...84,962,406 		JBrowse link
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:15192806 PMID:23143715 PMID:25741868 PMID:28492532 PMID:31319225 NCBI chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,962 		JBrowse link
G IL1RAPL2 interleukin 1 receptor accessory protein like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:85,347,867...86,464,670
Ensembl chr  X:85,347,857...86,463,507 		JBrowse link
G LMNB1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:129,807,228...129,862,211
Ensembl chr 2:129,807,318...129,872,270 		JBrowse link
G MORF4L2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:84,553,770...84,566,304
Ensembl chr  X:84,553,774...84,569,030 		JBrowse link
G PLP1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild OMIM
ClinVar		 PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 More... NCBI chr  X:84,676,627...84,683,517
Ensembl chr  X:84,666,733...84,685,058 		JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild ClinVar PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 More... NCBI chr  X:84,721,269...84,733,000
Ensembl chr  X:84,721,274...84,732,990 		JBrowse link
G SLC25A53 solute carrier family 25 member 53 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:84,860,180...84,871,866
Ensembl chr  X:84,861,739...84,871,871 		JBrowse link
G TCEAL1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:84,518,999...84,521,020
Ensembl chr  X:84,519,005...84,521,009 		JBrowse link
G TCEAL3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:84,485,887...84,490,011 JBrowse link
G TCEAL4 transcription elongation factor A like 4 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:84,475,232...84,477,380 JBrowse link
G TCEAL5 transcription elongation factor A like 5 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:84,192,480...84,193,013 JBrowse link
G TCEAL7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:84,247,651...84,249,858
Ensembl chr  X:84,247,726...84,249,856 		JBrowse link
G TCEAL8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:84,175,196...84,177,431
Ensembl chr  X:84,175,200...84,177,427 		JBrowse link
G TCEAL9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:84,276,985...84,279,377
Ensembl chr  X:84,277,034...84,279,367 		JBrowse link
G TMSB15B thymosin beta 15B ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:84,815,565...84,871,809 JBrowse link
G ZCCHC18 zinc finger CCHC-type containing 18 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:84,870,668...84,875,040 JBrowse link
Periventricular Nodular Heterotopia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,695,050...124,699,349 JBrowse link
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy OMIM
ClinVar		 PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 More... NCBI chr12:5,450,913...5,479,550
Ensembl chr12:5,439,361...5,479,546 		JBrowse link
G TEN1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar NCBI chr12:5,430,940...5,451,140
Ensembl chr12:5,430,840...5,451,121 		JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:62,603,260...62,648,170
Ensembl chr 5:62,609,408...62,648,400 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:25741868 NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ACRBP acrosin binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:64,036,810...64,047,846
Ensembl chr 5:64,037,095...64,047,847 		JBrowse link
G ACSM4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 3:25,296,202...25,327,054
Ensembl chr 3:25,296,206...25,327,054 		JBrowse link
G AICDA activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369 		JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:62,811,819...62,820,532
Ensembl chr 5:62,810,879...62,820,173 		JBrowse link
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,782,159...63,795,648
Ensembl chr 5:63,782,162...63,795,648 		JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,644,097...63,655,149
Ensembl chr 5:63,643,374...63,655,143 		JBrowse link
G C1RL complement C1r subcomponent like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,623,398...63,640,065
Ensembl chr 5:63,627,313...63,640,057 		JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,670,309...63,681,466
Ensembl chr 5:63,670,312...63,708,214 		JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,088,778...63,098,750 JBrowse link
G C5H12orf57 chromosome 5 C12orf57 homolog ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,779,510...63,781,307
Ensembl chr 5:63,779,513...63,781,517 		JBrowse link
G CD163 CD163 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498 		JBrowse link
G CD163L1 CD163 molecule-like 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,488,674...63,514,536 JBrowse link
G CD27 CD27 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:64,197,594...64,202,236
Ensembl chr 5:64,196,994...64,202,613 		JBrowse link
G CD4 CD4 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,892,129...63,918,547
Ensembl chr 5:63,892,137...63,918,519 		JBrowse link
G CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,858,905...63,861,902
Ensembl chr 5:63,859,541...63,864,269 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:64,071,627...64,105,212
Ensembl chr 5:64,065,992...64,105,173 		JBrowse link
G CLEC4E C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,219,229...63,228,566 JBrowse link
G CLSTN3 calsyntenin 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,572,062...63,612,177
Ensembl chr 5:63,572,065...63,599,525 		JBrowse link
G COPS7A COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,970,543...63,977,470
Ensembl chr 5:63,957,064...63,977,424 		JBrowse link
G DPPA3 developmental pluripotency associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:62,861,492...62,868,131 JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,746,326...63,751,469
Ensembl chr 5:63,745,476...63,751,469 		JBrowse link
G ENO2 enolase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,799,927...63,809,067
Ensembl chr 5:63,799,930...63,809,410 		JBrowse link
G FOXJ2 forkhead box J2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,061,978...63,087,689
Ensembl chr 5:63,061,978...63,085,037 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991 		JBrowse link
G GDF3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:62,835,926...62,841,827
Ensembl chr 5:62,835,880...62,841,884 		JBrowse link
G GNB3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,863,656...63,871,352
Ensembl chr 5:63,863,661...63,870,433 		JBrowse link
G GPR162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,885,710...63,891,436
Ensembl chr 5:63,885,715...63,891,219 		JBrowse link
G IFFO1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:64,115,695...64,129,832
Ensembl chr 5:64,116,150...64,129,274 		JBrowse link
G ING4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:64,027,789...64,036,671
Ensembl chr 5:64,027,855...64,036,773 		JBrowse link
G LAG3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,929,669...63,935,054
Ensembl chr 5:63,929,625...63,935,410 		JBrowse link
G LOC110258709 C-type lectin domain family 4 member A-like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532
G LOC110258710 C-type lectin domain family 4 member D-like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532
G LPAR5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:64,049,470...64,060,289
Ensembl chr 5:64,058,501...64,059,604 		JBrowse link
G LPCAT3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,707,674...63,746,369
Ensembl chr 5:63,708,020...63,746,103 		JBrowse link
G LRRC23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,809,298...63,836,629
Ensembl chr 5:63,809,546...63,817,225 		JBrowse link
G LTBR lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:64,271,372...64,278,422
Ensembl chr 5:64,270,310...64,287,523 		JBrowse link
G MFAP5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:62,742,520...62,757,522
Ensembl chr 5:62,742,319...62,757,519 		JBrowse link
G MLF2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,951,660...63,957,154
Ensembl chr 5:63,951,722...63,957,141 		JBrowse link
G MRPL51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:64,167,418...64,168,986
Ensembl chr 5:64,167,200...64,168,983 		JBrowse link
G NANOG Nanog homeobox ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:62,931,642...62,939,086
Ensembl chr 5:62,932,382...62,939,082 		JBrowse link
G NANOGNB NANOG neighbor homeobox ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:62,900,756...62,905,366 JBrowse link
G NCAPD2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:64,136,505...64,167,410
Ensembl chr 5:64,136,505...64,167,410 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,122,280...63,135,550
Ensembl chr 5:63,122,335...63,139,664 		JBrowse link
G NOP2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:64,106,013...64,115,582
Ensembl chr 5:64,106,098...64,115,579 		JBrowse link
G P3H3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,871,506...63,885,294
Ensembl chr 5:63,871,508...63,885,034 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B OMIM
ClinVar		 PMID:7719337 PMID:9536098 PMID:10462504 PMID:16199547 PMID:17532062 More... NCBI chr 5:63,542,422...63,562,762
Ensembl chr 5:63,542,431...63,562,849 		JBrowse link
G PHB2 prohibitin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,751,566...63,756,480
Ensembl chr 5:63,751,558...63,756,478 		JBrowse link
G PIANP PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,992,618...63,999,435
Ensembl chr 5:63,992,685...63,999,438 		JBrowse link
G PTMS parathymosin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,937,092...63,942,112 JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,762,109...63,779,086
Ensembl chr 5:63,762,112...63,808,350 		JBrowse link
G RBP5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,601,101...63,605,301
Ensembl chr 5:63,601,134...63,612,191 		JBrowse link
G RIMKLB ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:62,676,220...62,715,273
Ensembl chr 5:62,676,225...62,715,067 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:62,963,635...63,041,955 JBrowse link
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:64,188,184...64,197,033
Ensembl chr 5:64,188,179...64,197,264 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,839,473...63,842,853
Ensembl chr 5:63,838,506...63,843,134 		JBrowse link
G USP5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:63,843,742...63,858,835
Ensembl chr 5:63,843,745...63,858,716 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:64,181,496...64,188,275 JBrowse link
G ZNF384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 5:64,003,468...64,025,798
Ensembl chr 5:64,003,216...64,025,796 		JBrowse link
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NRL neural retina leucine zipper ISO ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:75,199,048...75,211,655
Ensembl chr 7:75,206,719...75,210,529 		JBrowse link
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:75,187,195...75,197,613
Ensembl chr 7:75,187,197...75,197,733 		JBrowse link
phosphoglycerate kinase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PGK1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-Related Disorder | ClinVar Annotator: match by term: PGK1-related condition OMIM
ClinVar		 PMID:411673 PMID:1547346 PMID:1586722 PMID:2001457 PMID:2715616 More... NCBI chr  X:62,187,472...62,210,321
Ensembl chr  X:62,187,434...62,210,705 		JBrowse link
phosphoribosylpyrophosphate synthetase superactivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Phosphoribosylpyrophosphate synthetase superactivity OMIM
ClinVar		 PMID:171280 PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 More... NCBI chr  X:88,074,861...88,101,925
Ensembl chr  X:88,074,965...88,101,910 		JBrowse link
Prieto syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNK3 WNK lysine deficient protein kinase 3 ISO ClinVar Annotator: match by term: Prieto syndrome OMIM
ClinVar		 PMID:3121220 PMID:25741868 PMID:26350204 PMID:35678782 NCBI chr  X:46,923,587...47,096,265
Ensembl chr  X:46,930,184...47,096,022 		JBrowse link
primary ovarian insufficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FMR1 Fragile X messenger ribonucleoprotein 1 ISO ClinVar Annotator: match by term: FMR1-Related Primary Ovarian Insufficiency OMIM
ClinVar		 PMID:25741868 NCBI chr  X:120,361,232...120,400,282
Ensembl chr  X:120,361,367...120,399,831 		JBrowse link
G MCM9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Premature ovarian failure 1 ClinVar PMID:25480036 PMID:25741868 PMID:31042289 NCBI chr 1:43,171,906...43,268,533 JBrowse link
G NOBOX NOBOX oogenesis homeobox ISO ClinVar Annotator: match by term: Premature ovarian failure 1 ClinVar PMID:21837770 PMID:24103315 PMID:25514101 PMID:25741868 PMID:25960166 More... NCBI chr 9:113,348,363...113,354,504
Ensembl chr 9:113,348,363...113,354,502 		JBrowse link
primary ovarian insufficiency 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIAPH2 diaphanous related formin 2 ISO ClinVar Annotator: match by term: Premature ovarian failure 2A OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr  X:78,602,385...79,520,441
Ensembl chr  X:78,602,390...79,520,428 		JBrowse link
primary ovarian insufficiency 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POF1B POF1B actin binding protein ISO ClinVar Annotator: match by term: POF1B-related condition | ClinVar Annotator: match by term: Premature ovarian failure 2B OMIM
ClinVar		 PMID:15459172 PMID:16773570 PMID:21940798 PMID:25676666 PMID:25741868 More... NCBI chr  X:68,503,170...68,579,917
Ensembl chr  X:68,503,179...68,579,893 		JBrowse link
G ZNF711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Premature ovarian failure 2B ClinVar NCBI chr  X:68,475,512...68,499,329
Ensembl chr  X:68,475,636...68,499,321 		JBrowse link
Pulmonary Surfactant Metabolism Dysfunction 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF2RA colony stimulating factor 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18955567 PMID:18955570 More...
purine nucleoside phosphorylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANG angiogenin ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138 		JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,451,845...78,454,938
Ensembl chr 7:78,451,851...78,454,938 		JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,043,995...78,067,546
Ensembl chr 7:78,042,057...78,064,913 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:77,719,476...77,780,148
Ensembl chr 7:77,719,582...77,780,146 		JBrowse link
G EDDM3B epididymal protein 3B ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,233,991...78,236,747
Ensembl chr 7:78,233,991...78,236,747 		JBrowse link
G HNRNPC heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:77,921,098...77,978,550
Ensembl chr 7:77,921,145...77,973,078 		JBrowse link
G LOC100154303 olfactory receptor 6S1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,307,070...78,308,065
Ensembl chr 7:78,307,070...78,308,065 		JBrowse link
G LOC100626020 ribonuclease 7 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,092,656...78,096,093 JBrowse link
G LOC102163838 non-secretory ribonuclease-like ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,179,285...78,180,221 JBrowse link
G LOC110261607 olfactory receptor 5AU1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:77,992,961...77,998,062
Ensembl chr 7:77,996,783...77,997,718 		JBrowse link
G METTL17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,138,237...78,145,322
Ensembl chr 7:78,138,233...78,145,331 		JBrowse link
G METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:77,661,945...77,679,459
Ensembl chr 7:77,662,058...77,695,934 		JBrowse link
G NDRG2 NDRG family member 2 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,111,736...78,121,216
Ensembl chr 7:78,112,536...78,121,215 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,454,667...78,462,260
Ensembl chr 7:78,454,666...78,462,258 		JBrowse link
G PIP4P1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,447,323...78,451,761
Ensembl chr 7:78,447,369...78,451,846 		JBrowse link
G PNP purine nucleoside phosphorylase ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency OMIM
ClinVar		 PMID:1384322 PMID:1560016 PMID:3029074 PMID:8931706 PMID:9067751 More... NCBI chr 7:78,426,838...78,447,029
Ensembl chr 7:78,424,740...78,447,012 		JBrowse link
G RAB2B RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:77,698,907...77,717,211
Ensembl chr 7:77,689,551...77,716,772 		JBrowse link
G RNASE1 ribonuclease A family member 1, pancreatic ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,199,007...78,214,832
Ensembl chr 7:78,213,005...78,214,821 		JBrowse link
G RNASE10 ribonuclease A family member 10 (inactive) ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,390,612...78,414,401
Ensembl chr 7:78,391,475...78,394,035 		JBrowse link
G RNASE11 ribonuclease A family member 11 (inactive) ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,344,002...78,345,782 JBrowse link
G RNASE12 ribonuclease A family member 12 (inactive) ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,333,025...78,340,906
Ensembl chr 7:78,340,268...78,340,705 		JBrowse link
G RNASE13 ribonuclease A family member 13 (inactive) ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,096,249...78,107,768 JBrowse link
G RNASE4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,244,284...78,244,931
Ensembl chr 7:78,243,691...78,244,930 		JBrowse link
G RNASE6 ribonuclease A family member k6 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,220,131...78,221,665
Ensembl chr 7:78,220,131...78,221,665 		JBrowse link
G RNASE9 ribonuclease A family member 9 (inactive) ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,341,091...78,367,308 JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:77,813,964...77,903,973
Ensembl chr 7:77,813,775...77,903,928 		JBrowse link
G SALL2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:77,552,357...77,653,380
Ensembl chr 7:77,638,848...77,653,376 		JBrowse link
G SLC39A2 solute carrier family 39 member 2 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,127,628...78,132,900
Ensembl chr 7:78,129,237...78,131,819 		JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:77,780,968...77,814,519
Ensembl chr 7:77,781,316...77,814,505 		JBrowse link
G TMEM253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:77,991,665...78,033,146
Ensembl chr 7:78,030,446...78,032,537 		JBrowse link
G TOX4 TOX high mobility group box family member 4 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:77,679,405...77,698,952
Ensembl chr 7:77,678,475...77,698,917 		JBrowse link
G TPPP2 tubulin polymerization promoting protein family member 2 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,106,126...78,108,570
Ensembl chr 7:78,105,215...78,110,405 		JBrowse link
G ZNF219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr 7:78,028,560...78,043,491
Ensembl chr 7:78,035,228...78,043,464 		JBrowse link
pyruvate decarboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLD dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583 		JBrowse link
G LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:107,670,120...107,747,242
Ensembl chr 9:107,671,152...107,772,269 		JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency ClinVar PMID:25741868 NCBI chr  X:15,716,898...15,867,377
Ensembl chr  X:15,715,991...15,867,120 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency OMIM
ClinVar		 PMID:1293379 PMID:1301207 PMID:1338114 PMID:1779625 PMID:1909778 More... NCBI chr  X:15,699,924...15,718,908
Ensembl chr  X:15,700,050...15,718,903 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr13:40,161,519...40,167,502
Ensembl chr13:40,160,568...40,167,476 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:26,014,954...26,094,895
Ensembl chr 2:26,014,970...26,103,402 		JBrowse link
G PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO Pyruvate dehydrogenase deficiency OMIA PMID:516334 PMID:552740 PMID:7361423 PMID:15049576 PMID:17095275 NCBI chr 4:42,769,232...42,777,936
Ensembl chr 4:42,764,441...42,777,904 		JBrowse link
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:15,370,327...15,518,746
Ensembl chr  X:15,371,805...15,463,619 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855 		JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:25741868 NCBI chr  X:15,716,898...15,867,377
Ensembl chr  X:15,715,991...15,867,120 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:1293379 PMID:1301207 PMID:1338114 PMID:1508605 PMID:1770778 More... NCBI chr  X:15,699,924...15,718,908
Ensembl chr  X:15,700,050...15,718,903 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:26,014,954...26,094,895
Ensembl chr 2:26,014,970...26,103,402 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:15,279,398...15,365,731
Ensembl chr  X:15,283,120...15,365,565 		JBrowse link
G PPEF1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:15,111,230...15,251,415
Ensembl chr  X:15,138,350...15,251,228 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243 		JBrowse link
Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD6 abhydrolase domain containing 6, acylglycerol lipase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr13:39,982,536...40,055,467
Ensembl chr13:40,009,737...40,060,394 		JBrowse link
G ACOX2 acyl-CoA oxidase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr13:40,220,952...40,255,967
Ensembl chr13:40,223,010...40,255,967 		JBrowse link
G APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr13:39,089,157...39,124,969
Ensembl chr13:39,089,077...39,129,781 		JBrowse link
G ARF4 ADP ribosylation factor 4 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr13:39,410,094...39,430,177
Ensembl chr13:39,409,376...39,430,129 		JBrowse link
G ASB14 ankyrin repeat and SOCS box containing 14 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr13:39,121,461...39,147,490
Ensembl chr13:39,123,650...39,146,914 		JBrowse link
G DENND6A DENN domain containing 6A ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr13:39,456,957...39,524,110
Ensembl chr13:39,462,269...39,524,080 		JBrowse link
G DNAH12 dynein axonemal heavy chain 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr13:39,148,160...39,395,266
Ensembl chr13:39,148,377...39,384,396 		JBrowse link
G DNASE1L3 deoxyribonuclease 1L3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr13:39,958,384...39,976,114
Ensembl chr13:39,958,387...39,975,946 		JBrowse link
G FLNB filamin B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,739...39,938,746 		JBrowse link
G HESX1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr13:39,046,961...39,088,926
Ensembl chr13:39,046,465...39,088,875 		JBrowse link
G IL17RD interleukin 17 receptor D ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr13:38,935,631...39,006,721
Ensembl chr13:38,939,316...39,006,690 		JBrowse link
G KCTD6 potassium channel tetramerization domain containing 6 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr13:40,210,497...40,220,091
Ensembl chr13:40,167,717...40,219,838 		JBrowse link
G PDE12 phosphodiesterase 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr13:39,395,517...39,402,653
Ensembl chr13:39,395,541...39,402,650 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency OMIM
ClinVar		 PMID:9536098 PMID:15138885 PMID:16199547 PMID:17576681 PMID:18164639 More... NCBI chr13:40,161,519...40,167,502
Ensembl chr13:40,160,568...40,167,476 		JBrowse link
G PXK PX domain containing serine/threonine kinase like ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr13:40,079,238...40,160,387
Ensembl chr13:40,074,466...40,160,380 		JBrowse link
G RPP14 ribonuclease P/MRP subunit p14 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr13:40,062,178...40,078,179 JBrowse link
G SLMAP sarcolemma associated protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr13:39,571,930...39,720,229
Ensembl chr13:39,571,981...39,719,923 		JBrowse link
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,519,217...39,620,098
Ensembl chr 9:39,527,883...39,619,892 		JBrowse link
G BCO2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,864,136...39,916,491
Ensembl chr 9:39,872,645...39,917,263 		JBrowse link
G BTG4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,253,116...39,281,327
Ensembl chr 9:39,237,461...39,301,588 		JBrowse link
G C9H11orf52 chromosome 9 C11orf52 homolog ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,646,890...39,655,229
Ensembl chr 9:39,647,797...39,655,223 		JBrowse link
G CFAP68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,629,921...39,641,769
Ensembl chr 9:39,612,409...39,660,648 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,638,505...39,643,530
Ensembl chr 9:39,638,506...39,643,530 		JBrowse link
G DIXDC1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,666,454...39,734,909 JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency OMIM
ClinVar		 PMID:9536098 PMID:16049940 PMID:16199547 PMID:17576681 PMID:20022530 More... NCBI chr 9:39,738,639...39,763,813
Ensembl chr 9:39,738,564...39,796,806 		JBrowse link
G FDXACB1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,623,871...39,629,987
Ensembl chr 9:39,622,902...39,629,836 		JBrowse link
G HOATZ HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,278,888...39,304,816
Ensembl chr 9:39,276,995...39,304,804 		JBrowse link
G IL18 interleukin 18 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G LAYN layilin ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,306,276...39,326,825
Ensembl chr 9:39,306,300...39,327,072 		JBrowse link
G MIR34C-1 microRNA mir-34c-1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,280,278...39,280,357
Ensembl chr 9:39,280,278...39,280,357 		JBrowse link
G NKAPD1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,775,579...39,787,962
Ensembl chr 9:39,775,676...39,787,969 		JBrowse link
G PIH1D2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:9536098 PMID:16049940 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 9:39,767,708...39,775,477
Ensembl chr 9:39,765,305...39,775,401 		JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,121,422...39,144,636
Ensembl chr 9:39,119,052...39,144,606 		JBrowse link
G POU2AF3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,071,994...39,081,493
Ensembl chr 9:39,071,706...39,081,486 		JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,479,040...39,518,773
Ensembl chr 9:39,480,331...39,517,629 		JBrowse link
G PTS 6-pyruvoyltetrahydropterin synthase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,920,157...39,927,804
Ensembl chr 9:39,920,273...39,928,634 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,790,654...39,803,602
Ensembl chr 9:39,790,595...39,803,950 		JBrowse link
G SIK2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,368,555...39,483,519
Ensembl chr 9:39,368,599...39,483,515 		JBrowse link
G TEX12 testis expressed 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,864,093...39,869,572
Ensembl chr 9:39,864,148...39,869,979 		JBrowse link
G TIMM8B translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 9:39,788,164...39,790,563
Ensembl chr 9:39,787,405...39,790,718 		JBrowse link
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APIP APAF1 interacting protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency ClinVar NCBI chr 2:26,095,020...26,115,462
Ensembl chr 2:26,095,038...26,115,464 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency OMIM
ClinVar		 PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 More... NCBI chr 2:26,014,954...26,094,895
Ensembl chr 2:26,014,970...26,103,402 		JBrowse link
Raynaud-Claes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN4 chloride voltage-gated channel 4 ISO ClinVar Annotator: match by term: CLCN4-related X-linked intellectual disability syndrome | ClinVar Annotator: match by term: CLCN4-related disorder | ClinVar Annotator: match by term: MRX49 | ClinVar Annotator: match by term: RAYNAUD-CLAES SYNDROME OMIM
ClinVar		 PMID:8826458 PMID:9415477 PMID:9536098 PMID:17576681 PMID:23647072 More... NCBI chr  X:6,939,637...7,019,745
Ensembl chr  X:6,939,387...7,019,738 		JBrowse link
reducing body myopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, early-onset, severe OMIM
ClinVar		 PMID:7722535 PMID:18274675 PMID:19171836 PMID:19181672 PMID:19716112 More... NCBI chr  X:111,309,989...111,367,900
Ensembl chr  X:111,356,011...111,367,903 		JBrowse link
reducing body myopathy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, childhood-onset OMIM
ClinVar		 PMID:16919903 PMID:18274675 PMID:18952429 PMID:19171836 PMID:19716112 More... NCBI chr  X:111,309,989...111,367,900
Ensembl chr  X:111,356,011...111,367,903 		JBrowse link
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN16 claudin 16 ISO ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement ClinVar NCBI chr13:127,808,599...127,831,081
Ensembl chr13:127,808,599...127,830,717 		JBrowse link
G CLDN19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement OMIM
ClinVar		 PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 More... NCBI chr 6:168,695,246...168,699,683
Ensembl chr 6:168,695,246...168,699,924 		JBrowse link
G EGF epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046 		JBrowse link
Renpenning syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PQBP1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Renpenning syndrome OMIM
ClinVar		 PMID:6711604 PMID:9545405 PMID:13981686 PMID:14634649 PMID:15024694 More... NCBI chr  X:42,976,086...42,981,732
Ensembl chr  X:42,975,413...42,981,724 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Renpenning syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32903913 NCBI chr  X:42,981,801...42,992,091
Ensembl chr  X:42,981,802...42,992,081 		JBrowse link
retinitis pigmentosa 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RP2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 2 OMIM
ClinVar		 PMID:9536098 PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 More... NCBI chr  X:41,488,866...41,534,810
Ensembl chr  X:41,488,626...41,534,799 		JBrowse link
retinitis pigmentosa 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa 23 OMIM
ClinVar		 PMID:10892847 PMID:22619378 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr  X:10,361,403...10,415,502 JBrowse link
retinitis pigmentosa 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:31,879,143...32,331,543 JBrowse link
G DYNLT3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:33,711,993...33,724,596
Ensembl chr  X:33,711,492...33,724,683 		JBrowse link
G GP91-PHOX NADPH oxidase heavy chain subunit ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,643,648...33,680,580 		JBrowse link
G H2AP H2A.P histone ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:33,889,233...33,890,290 JBrowse link
G IQCB1 IQ motif containing B1 severity ISO RGD PMID:21857984 PMID:22183348 RGD:11352374 RGD:11537386 NCBI chr13:138,689,544...138,741,228
Ensembl chr13:138,681,740...138,741,367 		JBrowse link
G LANCL3 LanC like family member 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:33,426,731...33,543,506
Ensembl chr  X:33,427,444...33,541,304 		JBrowse link
G LOC100522411 melanoma-associated antigen B16-like ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:31,592,308...31,597,919 JBrowse link
G LOC100624836 protein FAM47E-like ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:33,004,811...33,006,091 JBrowse link
G OTC ornithine transcarbamylase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,821 		JBrowse link
G PRRG1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:33,064,499...33,232,556
Ensembl chr  X:33,091,149...33,232,556 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar PMID:9536098 PMID:17576681 PMID:20625056 PMID:23150612 PMID:25741868 More... NCBI chr  X:41,488,866...41,534,810
Ensembl chr  X:41,488,626...41,534,799 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 OMIM
ClinVar		 PMID:7611300 PMID:8673101 PMID:8817343 PMID:9326322 PMID:9399904 More... NCBI chr  X:34,238,961...34,522,814
Ensembl chr  X:34,228,124...34,296,589 		JBrowse link
G RPGRIP1L RPGRIP1 like severity ISO DNA:polymorphism:cds:p.R744Q (rs2302677)(human) RGD PMID:22183348 RGD:11352374 NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,190 		JBrowse link
G SRPX sushi repeat containing protein X-linked ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:34,075,577...34,198,462
Ensembl chr  X:34,075,579...34,198,467 		JBrowse link
G SYTL5 synaptotagmin like 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:33,798,296...34,066,127
Ensembl chr  X:33,798,291...34,036,242 		JBrowse link
G TSPAN7 tetraspanin 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:34,522,899...34,660,216
Ensembl chr  X:34,522,933...34,660,212 		JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:33,544,287...33,602,576
Ensembl chr  X:33,544,731...33,602,574 		JBrowse link
retinitis pigmentosa 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 6 ClinVar PMID:25741868 NCBI chr  X:34,238,961...34,522,814
Ensembl chr  X:34,228,124...34,296,589 		JBrowse link
Rett syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:18710461 RGD:5686812 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:16015284 PMID:18414213 PMID:19241098 PMID:19396824 PMID:25657822 More... NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855 		JBrowse link
G DOK7 docking protein 7 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:16917026 PMID:18161030 PMID:18626973 PMID:21850686 PMID:22661499 More... NCBI chr 8:2,089,645...2,119,076
Ensembl chr 8:2,089,670...2,122,685 		JBrowse link
G EGR2 early growth response 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19000991 NCBI chr14:66,280,665...66,291,308
Ensembl chr14:66,284,581...66,291,299 		JBrowse link
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:25741868 NCBI chr 7:70,656,603...70,660,236
Ensembl chr 7:70,658,685...70,660,145 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:25741868 PMID:26740508 PMID:27541642 PMID:28492532 PMID:28856709 More... NCBI chr 1:240,107,469...240,495,917
Ensembl chr 1:240,107,466...240,496,101 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:15712379 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO protein:increased expression:locus ceruleus RGD PMID:21307341 RGD:8662896 NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406 		JBrowse link
G MAP2 microtubule associated protein 2 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:25741868 NCBI chr15:112,156,578...112,462,932
Ensembl chr15:112,236,119...112,462,929 		JBrowse link
G MECP2 methyl-CpG binding protein 2 susceptibility ISO ClinVar Annotator: match by term: Rett syndrome | ClinVar Annotator: match by term: Rett's disorder ClinVar
OMIM		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:1402105 More... NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G MIR199A-1 microRNA mir-199a-1 ISO OMIM:312750 | OMIM:613454 MouseDO NCBI chr 9:114,533,783...114,533,858
Ensembl chr 9:114,533,777...114,533,880 		JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214522 NCBI chr17:52,017,100...52,086,747
Ensembl chr17:52,017,130...52,086,736 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:18298893 PMID:25741868 PMID:28492532 PMID:29276004 PMID:29768694 More... NCBI chr14:7,223,209...7,254,813
Ensembl chr14:7,222,981...7,254,780 		JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 severity ISO RGD PMID:20869373 RGD:9590158 NCBI chr 4:98,259,801...98,293,238
Ensembl chr 4:98,260,375...98,293,097 		JBrowse link
Rett Syndrome, Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 More... NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855 		JBrowse link
G GPHN gephyrin ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:25741868 PMID:33073849 NCBI chr 7:90,345,726...90,913,625
Ensembl chr 7:90,346,714...90,916,455 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:10508514 PMID:10854091 PMID:11035019 PMID:11055898 PMID:11269512 More... NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G PALS1 protein associated with LIN7 1, MAGUK p55 family member ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:25741868 PMID:33073849 NCBI chr 7:90,955,524...91,055,923
Ensembl chr 7:90,984,394...91,055,620 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:19428276 PMID:28492532 NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243 		JBrowse link
Rett Syndrome, Congenital Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: FOXG1 disorder | ClinVar Annotator: match by term: FOXG1-related condition | ClinVar Annotator: match by term: Rett syndrome, congenital variant OMIM
ClinVar		 PMID:18414213 PMID:18571142 PMID:19564653 PMID:19578037 PMID:19623215 More... NCBI chr 7:70,656,603...70,660,236
Ensembl chr 7:70,658,685...70,660,145 		JBrowse link
Rett Syndrome, Zappella Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Rett syndrome, zappella variant ClinVar PMID:1191367 PMID:4413922 PMID:10508514 PMID:10577905 PMID:10745042 More... NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: CCDC22-related condition | ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 OMIM
ClinVar		 PMID:19377476 PMID:21826058 PMID:23563313 PMID:24916641 PMID:25644381 More... NCBI chr  X:43,285,232...43,303,865
Ensembl chr  X:43,285,246...43,303,864 		JBrowse link
Roifman Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLASP1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Roifman syndrome | ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY ClinVar PMID:10189087 PMID:21474760 PMID:21474761 PMID:21977988 PMID:22581640 More... NCBI chr15:29,782,613...30,042,727
Ensembl chr15:29,782,746...30,042,734 		JBrowse link
G PROM1 prominin 1 ISO ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY ClinVar PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 More... NCBI chr 8:11,215,659...11,331,442
Ensembl chr 8:11,215,663...11,317,312 		JBrowse link
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL13A ADP ribosylation factor like GTPase 13A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:82,670,773...82,681,890
Ensembl chr  X:82,671,561...82,684,002 		JBrowse link
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573 		JBrowse link
G CENPI centromere protein I ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:82,776,375...82,826,651
Ensembl chr  X:82,776,447...82,825,655 		JBrowse link
G CSTF2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:82,508,739...82,540,861
Ensembl chr  X:82,508,736...82,540,863 		JBrowse link
G DRP2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:82,871,901...82,925,889
Ensembl chr  X:82,872,197...82,925,883 		JBrowse link
G GLA galactosidase alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,570 		JBrowse link
G NOX1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:82,540,664...82,575,811
Ensembl chr  X:82,540,667...82,586,532 		JBrowse link
G RPL36A ribosomal protein L36a ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:83,018,305...83,022,285
Ensembl chr  X:83,018,141...83,022,283 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | ClinVar Annotator: match by term: SRPX2-related condition OMIM
ClinVar		 PMID:16497722 PMID:18718938 PMID:23352160 PMID:23831613 PMID:23871722 More... NCBI chr  X:82,336,741...82,363,868
Ensembl chr  X:82,336,744...82,363,867 		JBrowse link
G SYTL4 synaptotagmin like 4 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:82,367,546...82,437,439
Ensembl chr  X:82,367,549...82,437,401 		JBrowse link
G TAF7L TATA-box binding protein associated factor 7 like ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:82,930,258...82,951,065
Ensembl chr  X:82,930,266...82,951,224 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:82,978,128...82,981,038
Ensembl chr  X:82,974,270...82,980,769 		JBrowse link
G TMEM35A transmembrane protein 35A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:82,761,552...82,774,952
Ensembl chr  X:82,761,589...82,774,951 		JBrowse link
G TRMT2B tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:82,638,456...82,741,659
Ensembl chr  X:82,690,392...82,735,521 		JBrowse link
G XKRX XK related X-linked ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:82,614,592...82,630,188
Ensembl chr  X:82,610,758...82,630,310 		JBrowse link
Selective Tooth Agenesis, X-Linked, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A ISO ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1 OMIM
ClinVar		 PMID:9683615 PMID:16583127 PMID:17256800 PMID:18545687 PMID:18657636 More... NCBI chr  X:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265 		JBrowse link
severe congenital encephalopathy due to MECP2 mutation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:10986043 PMID:14560307 PMID:15351775 PMID:15689435 PMID:16080119 More... NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 susceptibility ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar
OMIM		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:1402105 More... NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:124,695,050...124,699,349 JBrowse link
Shukla-Vernon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCORL1 BCL6 corepressor like 1 ISO ClinVar Annotator: match by term: Shukla-Vernon syndrome OMIM
ClinVar		 PMID:24047651 PMID:24896186 PMID:25596268 PMID:25741868 PMID:25741905 More... NCBI chr  X:106,547,754...106,613,130
Ensembl chr  X:106,549,139...106,612,894 		JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAS2 5'-aminolevulinate synthase 2 onset ISO ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)		 OMIM
ClinVar
RGD		 PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More... RGD:11035241 RGD:11035243 NCBI chr  X:47,871,519...47,896,041
Ensembl chr  X:47,871,523...47,896,000 		JBrowse link
G APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:47,862,682...47,870,579
Ensembl chr  X:47,862,667...47,871,184 		JBrowse link
G PAGE2B PAGE family member 2B ISO ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia ClinVar PMID:12663458 PMID:18823803 PMID:23315997 PMID:24166784 PMID:25741868 More... NCBI chr  X:47,916,076...47,919,904
Ensembl chr  X:47,916,069...47,919,898 		JBrowse link
G SLC25A38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr13:24,030,571...24,043,866
Ensembl chr13:24,030,653...24,044,782 		JBrowse link
Simpson-Golabi-Behmel syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC3 glypican 3 ISO ClinVar Annotator: match by term: Dysplasia gigantism syndrome, X-linked | ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 OMIM
ClinVar		 PMID:9950367 PMID:10402475 PMID:10814714 PMID:12713262 PMID:16158429 More... NCBI chr  X:109,536,495...109,973,605
Ensembl chr  X:109,536,504...109,973,607 		JBrowse link
G GPC4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:109,306,489...109,421,947
Ensembl chr  X:109,306,368...109,421,785 		JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 ClinVar PMID:25741868 NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
G RETSAT retinol saturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chr 3:59,401,161...59,416,829
Ensembl chr 3:59,399,688...59,416,685 		JBrowse link
Simpson-Golabi-Behmel syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 2 OMIM
ClinVar		 PMID:11179005 PMID:12595504 PMID:16783569 PMID:19800048 PMID:22353940 More... NCBI chr  X:10,361,403...10,415,502 JBrowse link
Sketetal Dysplasia Coarse Facies Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration ClinVar PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration ClinVar PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chr  X:106,708,402...106,723,803
Ensembl chr  X:106,712,398...106,723,404 		JBrowse link
Stocco Dos Santos type X-linked intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:43,885,584...43,895,142
Ensembl chr  X:43,885,394...43,895,981 		JBrowse link
G BMP15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:44,613,122...44,620,575
Ensembl chr  X:44,613,122...44,620,575 		JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:43,922,729...43,988,939
Ensembl chr  X:43,922,804...43,990,929 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,628...43,811,526 		JBrowse link
G DGKK diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:44,001,172...44,180,142
Ensembl chr  X:44,001,176...44,180,179 		JBrowse link
G GSPT2 G1 to S phase transition 2 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:45,193,336...45,195,939
Ensembl chr  X:45,193,338...45,195,901 		JBrowse link
G LOC100513450 P antigen family member 4 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:43,489,559...43,496,654
Ensembl chr  X:43,446,109...43,494,094 		JBrowse link
G LOC100627608 protein SSX1-like ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:42,559,714...42,567,979 JBrowse link
G LOC110255204 melanoma-associated antigen D4-like ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966
G MAGED1 MAGE family member D1 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:45,258,761...45,329,282
Ensembl chr  X:45,258,829...45,329,272 		JBrowse link
G MIR532 microRNA mir-532 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:43,705,258...43,705,337
Ensembl chr  X:43,705,258...43,705,337 		JBrowse link
G NUDT11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:44,912,160...44,918,977 JBrowse link
G SHROOM4 shroom family member 4 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:12673656 PMID:16249884 PMID:18414213 PMID:23757202 PMID:23871722 More... NCBI chr  X:44,301,956...44,543,969
Ensembl chr  X:44,332,620...44,543,337 		JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:43,553,454...43,557,247
Ensembl chr  X:43,555,005...43,556,321 		JBrowse link
subcortical band heterotopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:91,317,671...91,644,572
Ensembl chr  X:91,323,764...91,644,567 		JBrowse link
G EML1 EMAP like 1 ISO ClinVar Annotator: match by term: Band heterotopia of brain OMIM
ClinVar		 PMID:24859200 PMID:25741868 PMID:25741915 PMID:28492532 PMID:28556411 NCBI chr 7:120,703,282...120,890,792
Ensembl chr 7:120,703,258...120,890,791 		JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:1671808 PMID:10441340 PMID:11115846 PMID:11502906 PMID:14581661 More... NCBI chr12:48,567,329...48,735,836
Ensembl chr12:48,628,816...48,735,834 		JBrowse link
Subcortical Band Heterotopia, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO DNA:nonsense mutation: :p.R186C (971C>T) (human)
DNA:deletions		 RGD PMID:9618162 PMID:19050731 PMID:19098909 RGD:12904718 RGD:12904725 RGD:12904762 NCBI chr  X:91,317,671...91,644,572
Ensembl chr  X:91,323,764...91,644,567 		JBrowse link
syndactyly type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF16 fibroblast growth factor 16 ISO ClinVar Annotator: match by term: Syndactyly type 8 OMIM
ClinVar		 PMID:23709756 PMID:24878828 NCBI chr  X:61,551,487...61,561,807
Ensembl chr  X:61,552,460...61,561,954 		JBrowse link
syndromic microphthalmia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 1 ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr  X:35,768,013...35,891,013
Ensembl chr  X:35,768,017...35,814,833 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 1 OMIM
ClinVar		 PMID:1679229 PMID:11426460 PMID:16114045 PMID:24033266 PMID:24431331 More... NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
syndromic microphthalmia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMGB3 high mobility group box 3 ISO OMIM NCBI chr  X:122,591,413...122,599,496
Ensembl chr  X:122,592,936...122,599,493 		JBrowse link
syndromic microphthalmia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6AP2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Oculofaciocardiodental syndrome ClinVar PMID:28492532 NCBI chr  X:36,271,154...36,300,240
Ensembl chr  X:36,271,222...36,304,181 		JBrowse link
G BCOR BCL6 corepressor ISO ClinVar Annotator: match by term: BCOR-related condition | ClinVar Annotator: match by term: Oculofaciocardiodental syndrome OMIM
ClinVar		 PMID:15004558 PMID:15770227 PMID:16199547 PMID:16829040 PMID:18414213 More... NCBI chr  X:35,768,013...35,891,013
Ensembl chr  X:35,768,017...35,814,833 		JBrowse link
syndromic X-linked intellectual developmental disorder Bain type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE ClinVar PMID:25741868 NCBI chr 2:78,961,456...78,971,799
Ensembl chr 2:78,963,309...78,969,949 		JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE OMIM
ClinVar		 PMID:20308327 PMID:24033266 PMID:25741868 PMID:27545675 PMID:28492532 More... NCBI chr  X:83,032,525...83,038,369
Ensembl chr  X:83,032,621...83,038,361 		JBrowse link
G RPL36A ribosomal protein L36a ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE ClinVar PMID:20308327 PMID:24033266 PMID:25741868 PMID:27545675 PMID:28492532 More... NCBI chr  X:83,018,305...83,022,285
Ensembl chr  X:83,018,141...83,022,283 		JBrowse link
syndromic X-linked intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARX aristaless related homeobox ISO MouseDO NCBI chr  X:21,067,631...21,079,850
Ensembl chr  X:21,067,621...21,079,723 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: X-linked syndromic intellectual disability ClinVar PMID:22452838 PMID:25741868 NCBI chr  X:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO MouseDO NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
syndromic X-linked intellectual disability 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:98,234,469...98,255,396 JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:98,514,286...98,535,154
Ensembl chr  X:98,514,305...98,535,149 		JBrowse link
G C1GALT1C1 C1GALT1 specific chaperone 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:98,752,711...98,758,428 JBrowse link
G CUL4B cullin 4B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:98,668,945...98,730,582
Ensembl chr  X:98,668,953...98,730,565 		JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:98,586,718...98,623,939
Ensembl chr  X:98,556,710...98,623,940 		JBrowse link
G LOC100738684 malignant T-cell-amplified sequence 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr10:65,704,921...65,705,734 JBrowse link
G LOC102157657 uncharacterized LOC102157657 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:98,304,777...98,310,448 JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:98,219,717...98,223,873
Ensembl chr  X:98,219,988...98,223,868 		JBrowse link
G NKAP NFKB activating protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:98,233,504...98,276,839
Ensembl chr  X:98,256,632...98,276,773 		JBrowse link
G NKRF NFKB repressing factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:98,008,870...98,025,423
Ensembl chr  X:98,007,910...98,025,373 		JBrowse link
G RNF113A ring finger protein 113A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:98,218,689...98,219,931
Ensembl chr  X:98,218,565...98,219,773 		JBrowse link
G RPL39 ribosomal protein L39 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:98,178,148...98,181,439
Ensembl chr  X:98,178,150...98,181,332 		JBrowse link
G SEPTIN6 septin 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:98,033,212...98,106,082
Ensembl chr  X:98,031,890...98,161,607 		JBrowse link
G SOWAHD sosondowah ankyrin repeat domain family member D ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:98,154,437...98,158,808
Ensembl chr  X:98,156,970...98,158,807 		JBrowse link
G TMEM255A transmembrane protein 255A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:98,412,286...98,464,683
Ensembl chr  X:98,413,949...98,464,660 		JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:97,925,136...98,007,551
Ensembl chr  X:97,925,131...98,012,278 		JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17704778 PMID:18414213 PMID:19238151 More... NCBI chr  X:98,184,646...98,206,135
Ensembl chr  X:98,182,272...98,206,096 		JBrowse link
G ZBTB33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:98,370,137...98,413,686
Ensembl chr  X:98,405,319...98,414,279 		JBrowse link
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1S2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Pettigrew syndrome OMIM
ClinVar		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:12,367,785...12,397,672
Ensembl chr  X:12,367,795...12,397,677 		JBrowse link
G CUL4B cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:98,668,945...98,730,582
Ensembl chr  X:98,668,953...98,730,565 		JBrowse link
syndromic X-linked intellectual disability 94 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: GRIA3-Related Disorder | ClinVar Annotator: match by term: GRIA3-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 94 OMIM
ClinVar		 PMID:17989220 PMID:19022251 PMID:20716669 PMID:24721225 PMID:25326635 More... NCBI chr  X:100,827,293...101,109,213
Ensembl chr  X:100,827,461...101,109,207 		JBrowse link
syndromic X-linked intellectual disability Cabezas type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:98,234,469...98,255,396 JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:98,514,286...98,535,154
Ensembl chr  X:98,514,305...98,535,149 		JBrowse link
G C1GALT1C1 C1GALT1 specific chaperone 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:98,752,711...98,758,428 JBrowse link
G CUL4B cullin 4B ISO ClinVar Annotator: match by term: CABEZAS SYNDROME | ClinVar Annotator: match by term: CUL4B-Related Disorder | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 | ClinVar Annotator: match by term: Mental retardation with short stature, hypogonadism and abnormal gait, X-linked OMIM
ClinVar		 PMID:8135271 PMID:9536098 PMID:10978355 PMID:17236139 PMID:17273978 More... NCBI chr  X:98,668,945...98,730,582
Ensembl chr  X:98,668,953...98,730,565 		JBrowse link
G DOCK11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:97,068,488...97,267,528
Ensembl chr  X:97,068,355...97,267,517 		JBrowse link
G IL13RA1 interleukin 13 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:97,300,960...97,353,754
Ensembl chr  X:97,300,466...97,356,133 		JBrowse link
G KIAA1210 KIAA1210 ortholog ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:97,581,400...97,651,765 JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:98,586,718...98,623,939
Ensembl chr  X:98,556,710...98,623,940 		JBrowse link
G LOC100738684 malignant T-cell-amplified sequence 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr10:65,704,921...65,705,734 JBrowse link
G LOC102157657 uncharacterized LOC102157657 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:98,304,777...98,310,448 JBrowse link
G LONRF3 LON peptidase N-terminal domain and ring finger 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:97,494,305...97,547,813
Ensembl chr  X:97,494,328...97,534,185 		JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:98,219,717...98,223,873
Ensembl chr  X:98,219,988...98,223,868 		JBrowse link
G NKAP NFKB activating protein ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:98,233,504...98,276,839
Ensembl chr  X:98,256,632...98,276,773 		JBrowse link
G NKRF NFKB repressing factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:98,008,870...98,025,423
Ensembl chr  X:98,007,910...98,025,373 		JBrowse link
G PGRMC1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:97,735,402...97,743,424
Ensembl chr  X:97,735,244...97,743,423 		JBrowse link
G RNF113A ring finger protein 113A ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:98,218,689...98,219,931
Ensembl chr  X:98,218,565...98,219,773 		JBrowse link
G RPL39 ribosomal protein L39 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:98,178,148...98,181,439
Ensembl chr  X:98,178,150...98,181,332 		JBrowse link
G SEPTIN6 septin 6 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:98,033,212...98,106,082
Ensembl chr  X:98,031,890...98,161,607 		JBrowse link
G SLC25A43 solute carrier family 25 member 43 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:97,868,804...97,906,771
Ensembl chr  X:97,868,696...97,906,760 		JBrowse link
G SLC25A5 solute carrier family 25 member 5 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:97,919,295...97,922,245
Ensembl chr  X:97,919,290...97,922,239 		JBrowse link
G SOWAHD sosondowah ankyrin repeat domain family member D ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:98,154,437...98,158,808
Ensembl chr  X:98,156,970...98,158,807 		JBrowse link
G STEEP1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:97,974,596...97,986,281
Ensembl chr  X:97,974,604...97,986,278 		JBrowse link
G TMEM255A transmembrane protein 255A ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:98,412,286...98,464,683
Ensembl chr  X:98,413,949...98,464,660 		JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:97,925,136...98,007,551
Ensembl chr  X:97,925,131...98,012,278 		JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:98,184,646...98,206,135
Ensembl chr  X:98,182,272...98,206,096 		JBrowse link
G ZBTB33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:98,370,137...98,413,686
Ensembl chr  X:98,405,319...98,414,279 		JBrowse link
syndromic X-linked intellectual disability Claes-Jensen type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type ClinVar PMID:2563148 PMID:25741868 PMID:26235985 NCBI chr  X:36,988,031...37,005,496
Ensembl chr  X:36,988,031...37,018,202 		JBrowse link
G KDM5C lysine demethylase 5C ISO ClinVar Annotator: match by term: KDM5C-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type OMIM
ClinVar		 PMID:1605217 PMID:10982473 PMID:15586325 PMID:16538222 PMID:16541399 More... NCBI chr  X:45,968,812...46,003,215
Ensembl chr  X:45,968,814...46,003,215 		JBrowse link
syndromic X-linked intellectual disability Hedera type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARX aristaless related homeobox ISO DNA:missense mutation:cds:p.P353L (human) RGD PMID:12177367 PMID:19605412 RGD:11565831 RGD:11565840 NCBI chr  X:21,067,631...21,079,850
Ensembl chr  X:21,067,621...21,079,723 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type OMIM
ClinVar		 PMID:9536098 PMID:11782983 PMID:15746149 PMID:17576681 PMID:23901204 More... NCBI chr  X:36,271,154...36,300,240
Ensembl chr  X:36,271,222...36,304,181 		JBrowse link
G BCOR BCL6 corepressor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:35,768,013...35,891,013
Ensembl chr  X:35,768,017...35,814,833 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160 		JBrowse link
G CXHXorf38 chromosome X CXorf38 homolog ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:36,330,684...36,351,903
Ensembl chr  X:36,328,653...36,351,826 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:36,988,031...37,005,496
Ensembl chr  X:36,988,031...37,018,202 		JBrowse link
G GPR34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:37,306,490...37,313,626
Ensembl chr  X:37,306,509...37,313,923 		JBrowse link
G GPR82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:37,328,672...37,334,144
Ensembl chr  X:37,328,678...37,334,984 		JBrowse link
G MED14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:36,354,057...36,424,837
Ensembl chr  X:36,354,061...36,424,715 		JBrowse link
G MPC1L mitochondrial pyruvate carrier 1 like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:36,325,447...36,331,779
Ensembl chr  X:36,325,996...36,326,472 		JBrowse link
G NYX nyctalopin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:37,080,197...37,105,513
Ensembl chr  X:37,080,278...37,105,510 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:36,736,049...36,888,702
Ensembl chr  X:36,760,865...36,885,250 		JBrowse link
syndromic X-linked intellectual disability Lubs type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,186,559...60,313,098
Ensembl chr  X:60,186,814...60,313,064 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,093,242...12,151,286 		JBrowse link
G ACOT9 acyl-CoA thioesterase 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,835,674...19,864,570
Ensembl chr  X:19,834,614...19,864,660 		JBrowse link
G ACSL4 acyl-CoA synthetase long chain family member 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:89,760,863...89,838,103
Ensembl chr  X:89,760,866...89,806,274 		JBrowse link
G ADGRG2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,370,327...15,518,746
Ensembl chr  X:15,371,805...15,463,619 		JBrowse link
G ADGRG4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,490,544...111,534,000 JBrowse link
G AFF2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:120,777,559...121,263,574
Ensembl chr  X:120,777,734...121,263,569 		JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317 		JBrowse link
G AKAP14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,234,469...98,255,396 JBrowse link
G AKAP4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,885,584...43,895,142
Ensembl chr  X:43,885,394...43,895,981 		JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:47,871,519...47,896,041
Ensembl chr  X:47,871,523...47,896,000 		JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:91,644,586...91,708,695
Ensembl chr  X:91,650,858...91,708,689 		JBrowse link
G AMER1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:50,842,049...50,864,105
Ensembl chr  X:50,844,683...50,864,032 		JBrowse link
G AMMECR1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:90,304,918...90,420,207
Ensembl chr  X:90,307,187...90,420,168 		JBrowse link
G AMOT angiomotin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:92,581,995...92,647,872
Ensembl chr  X:92,582,047...92,647,857 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,367,785...12,397,672
Ensembl chr  X:12,367,795...12,397,677 		JBrowse link
G APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:47,862,682...47,870,579
Ensembl chr  X:47,862,667...47,871,184 		JBrowse link
G APLN apelin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,236,746...106,246,563
Ensembl chr  X:106,236,749...106,246,377 		JBrowse link
G APOO apolipoprotein O ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,953,147...20,017,784
Ensembl chr  X:19,953,158...20,017,727 		JBrowse link
G APOOL apolipoprotein O like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,281,781...68,355,009
Ensembl chr  X:68,281,869...68,355,006 		JBrowse link
G AR androgen receptor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,078,202...42,090,250
Ensembl chr  X:42,078,206...42,090,250 		JBrowse link
G ARHGAP36 Rho GTPase activating protein 36 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:107,368,552...107,537,747 JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279 		JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,796,485...111,917,195
Ensembl chr  X:111,796,485...111,917,174 		JBrowse link
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:50,159,912...50,578,020 JBrowse link
G ARL13A ADP ribosylation factor like GTPase 13A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:82,670,773...82,681,890
Ensembl chr  X:82,671,561...82,684,002 		JBrowse link
G ARMCX1 armadillo repeat containing X-linked 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,132,775...83,136,924
Ensembl chr  X:83,132,792...83,136,917 		JBrowse link
G ARMCX2 armadillo repeat containing X-linked 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,213,939...83,218,601
Ensembl chr  X:83,213,947...83,224,391 		JBrowse link
G ARMCX3 armadillo repeat containing X-linked 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,187,939...83,192,693
Ensembl chr  X:83,187,979...83,197,532 		JBrowse link
G ARMCX4 armadillo repeat containing X-linked 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,092,592...83,130,725
Ensembl chr  X:83,092,697...83,103,834 		JBrowse link
G ARMCX5 armadillo repeat containing X-linked 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,746,935...83,769,896
Ensembl chr  X:83,764,771...83,769,889 		JBrowse link
G ARR3 arrestin 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,295,107...56,310,507
Ensembl chr  X:56,296,596...56,310,506 		JBrowse link
G ARX aristaless related homeobox ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:21,067,631...21,079,850
Ensembl chr  X:21,067,621...21,079,723 		JBrowse link
G ASB11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:11,842,855...11,871,040
Ensembl chr  X:11,842,855...11,868,793 		JBrowse link
G ASB12 ankyrin repeat and SOCS box containing 12 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:50,877,158...50,883,739
Ensembl chr  X:50,877,166...50,878,674 		JBrowse link
G ATG4A autophagy related 4A cysteine peptidase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:88,545,924...88,633,328
Ensembl chr  X:88,548,751...88,633,321 		JBrowse link
G ATP11C ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:114,394,436...114,575,658
Ensembl chr  X:114,394,439...114,574,071 		JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,514,286...98,535,154
Ensembl chr  X:98,514,305...98,535,149 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:36,271,154...36,300,240
Ensembl chr  X:36,271,222...36,304,181 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G AWAT1 acyl-CoA wax alcohol acyltransferase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,263,082...56,273,169 JBrowse link
G AWAT2 acyl-CoA wax alcohol acyltransferase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,101,635...56,108,243
Ensembl chr  X:56,104,509...56,114,744 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743 		JBrowse link
G BCLAF3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:16,252,407...16,312,426
Ensembl chr  X:16,252,420...16,312,439 		JBrowse link
G BCOR BCL6 corepressor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:35,768,013...35,891,013
Ensembl chr  X:35,768,017...35,814,833 		JBrowse link
G BCORL1 BCL6 corepressor like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,547,754...106,613,130
Ensembl chr  X:106,549,139...106,612,894 		JBrowse link
G BEND2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,635,795...14,703,934 JBrowse link
G BEX1 brain expressed, X-linked 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,223,041...84,224,583
Ensembl chr  X:84,222,959...84,224,613 		JBrowse link
G BEX3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,300,645...84,302,124
Ensembl chr  X:84,300,645...84,302,119 		JBrowse link
G BEX4 brain expressed X-linked 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,147,133...84,148,680
Ensembl chr  X:84,147,183...84,149,084 		JBrowse link
G BEX5 brain expressed X-linked 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,607,366...83,609,797
Ensembl chr  X:83,607,375...83,609,794 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
G BMP15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:44,613,122...44,620,575
Ensembl chr  X:44,613,122...44,620,575 		JBrowse link
G BMX BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,044,110...12,096,042
Ensembl chr  X:12,044,386...12,096,039 		JBrowse link
G BRS3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,615,695...111,620,124
Ensembl chr  X:111,615,564...111,620,124 		JBrowse link
G BRWD3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:64,239,640...64,403,889
Ensembl chr  X:64,242,775...64,403,844 		JBrowse link
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573 		JBrowse link
G C1GALT1C1 C1GALT1 specific chaperone 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,752,711...98,758,428 JBrowse link
G CA5B carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,295,393...12,332,283
Ensembl chr  X:12,224,159...12,365,025 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,250,449...43,284,458
Ensembl chr  X:43,251,370...43,283,990 		JBrowse link
G CAPN6 calpain 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:91,258,696...91,288,128
Ensembl chr  X:91,258,688...91,288,077 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160 		JBrowse link
G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,128,938...43,146,777
Ensembl chr  X:43,134,275...43,146,775 		JBrowse link
G CCDC160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,159,833...110,170,354
Ensembl chr  X:110,159,912...110,170,350 		JBrowse link
G CCDC22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,285,232...43,303,865
Ensembl chr  X:43,285,246...43,303,864 		JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,922,729...43,988,939
Ensembl chr  X:43,922,804...43,990,929 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867 		JBrowse link
G CD40LG CD40 ligand ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G CD99L2 CD99 molecule like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:122,456,668...122,535,989
Ensembl chr  X:122,456,676...122,535,870 		JBrowse link
G CDK16 cyclin dependent kinase 16 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:41,836,268...41,848,580
Ensembl chr  X:41,835,987...41,848,574 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855 		JBrowse link
G CDR1 cerebellar degeneration related 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,221,975...115,223,194 JBrowse link
G CDX4 caudal type homeobox 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,089,131...59,100,958
Ensembl chr  X:59,091,946...59,100,431 		JBrowse link
G CENPI centromere protein I ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:82,776,375...82,826,651
Ensembl chr  X:82,776,447...82,825,655 		JBrowse link
G CETN2 centrin 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:123,902,240...123,906,046
Ensembl chr  X:123,902,241...123,906,230 		JBrowse link
G CFAP47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:31,879,143...32,331,543 JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,145,754...42,152,879
Ensembl chr  X:42,143,697...42,152,868 		JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,157,980...42,174,964
Ensembl chr  X:42,157,988...42,174,951 		JBrowse link
G CHIC1 cysteine rich hydrophobic domain 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,176,650...59,230,332
Ensembl chr  X:59,176,604...59,230,783 		JBrowse link
G CHM CHM Rab escort protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,873,882...69,066,284
Ensembl chr  X:68,873,359...69,066,275 		JBrowse link
G CHRDL1 chordin like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:90,703,422...90,827,216
Ensembl chr  X:90,703,428...90,827,210 		JBrowse link
G CHST7 carbohydrate sulfotransferase 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:41,192,993...41,234,654
Ensembl chr  X:41,193,025...41,233,330 		JBrowse link
G CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,179,084...58,184,778
Ensembl chr  X:58,179,087...58,184,499 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,628...43,811,526 		JBrowse link
G CLDN2 claudin 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:87,352,695...87,355,724
Ensembl chr  X:87,321,152...87,355,721 		JBrowse link
G CLTRN collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,183,793...12,215,474
Ensembl chr  X:12,183,796...12,224,964 		JBrowse link
G CNGA2 cyclic nucleotide gated channel subunit alpha 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:123,115,980...123,130,043
Ensembl chr  X:123,115,975...123,129,840 		JBrowse link
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:17,561,114...17,838,034
Ensembl chr  X:17,561,260...17,838,493 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:88,958,837...89,183,306
Ensembl chr  X:88,958,849...89,183,372 		JBrowse link
G COL4A6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:88,634,925...88,750,938
Ensembl chr  X:88,634,930...88,957,416 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:61,962,383...61,969,011
Ensembl chr  X:61,962,412...61,970,152 		JBrowse link
G CPXCR1 CPX chromosome region candidate 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:71,778,455...71,779,240 JBrowse link
G CSTF2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:82,508,739...82,540,861
Ensembl chr  X:82,508,736...82,540,863 		JBrowse link
G CT55 cancer/testis antigen 55 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,848,227...110,890,277 JBrowse link
G CT83 cancer/testis antigen 83 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:95,508,720...95,510,921
Ensembl chr  X:95,509,505...95,510,813 		JBrowse link
G CTPS2 CTP synthase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:13,050,740...13,181,131
Ensembl chr  X:13,049,941...13,174,568 		JBrowse link
G CUL4B cullin 4B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,668,945...98,730,582
Ensembl chr  X:98,668,953...98,730,565 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692 		JBrowse link
G CXHXorf38 chromosome X CXorf38 homolog ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:36,330,684...36,351,903
Ensembl chr  X:36,328,653...36,351,826 		JBrowse link
G CXHXorf58 chromosome X CXorf58 homolog ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,020,746...20,051,819
Ensembl chr  X:20,017,994...20,051,343 		JBrowse link
G CXHXorf65 chromosome X CXorf65 homolog ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:57,139,975...57,143,070
Ensembl chr  X:57,140,831...57,143,151 		JBrowse link
G CXHXorf66 chromosome X CXorf66 homolog ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:114,596,809...114,602,521 JBrowse link
G CYLC1 cylicin 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,975,125...67,090,165
Ensembl chr  X:67,026,711...67,090,330 		JBrowse link
G CYSLTR1 cysteinyl leukotriene receptor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:62,380,778...62,407,736
Ensembl chr  X:62,380,780...62,456,689 		JBrowse link
G DACH2 dachshund family transcription factor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:69,137,431...69,698,617
Ensembl chr  X:69,137,455...69,702,177 		JBrowse link
G DCX doublecortin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:91,317,671...91,644,572
Ensembl chr  X:91,323,764...91,644,567 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:36,988,031...37,005,496
Ensembl chr  X:36,988,031...37,018,202 		JBrowse link
G DDX53 DEAD-box helicase 53 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,164,076...19,169,280 JBrowse link
G DGAT2L6 diacylglycerol O-acyltransferase 2 like 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,212,494...56,239,641
Ensembl chr  X:56,216,066...56,239,196 		JBrowse link
G DGKK diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:44,001,172...44,180,142
Ensembl chr  X:44,001,176...44,180,179 		JBrowse link
G DIAPH2 diaphanous related formin 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:78,602,385...79,520,441
Ensembl chr  X:78,602,390...79,520,428 		JBrowse link
G DIPK2B divergent protein kinase domain 2B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:40,179,289...40,223,011
Ensembl chr  X:40,178,969...40,222,542 		JBrowse link
G DLG3 discs large MAGUK scaffold protein 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,471,941...56,531,481
Ensembl chr  X:56,472,307...56,527,983 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:87,658,355...87,696,318
Ensembl chr  X:87,658,360...87,696,315 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G DOCK11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,068,488...97,267,528
Ensembl chr  X:97,068,355...97,267,517 		JBrowse link
G DRP2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:82,871,901...82,925,889
Ensembl chr  X:82,872,197...82,925,883 		JBrowse link
G DUSP21 dual specificity phosphatase 21 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:39,929,707...39,930,539 JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,404,852...124,414,246
Ensembl chr  X:124,409,289...124,414,212 		JBrowse link
G DYNLT3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,711,993...33,724,596
Ensembl chr  X:33,711,492...33,724,683 		JBrowse link
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,670,592...42,678,571
Ensembl chr  X:42,670,633...42,678,570 		JBrowse link
G EDA ectodysplasin A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265 		JBrowse link
G EDA2R ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:52,522,231...52,533,080 JBrowse link
G EFHC2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:39,407,390...39,597,537
Ensembl chr  X:39,403,692...39,597,512 		JBrowse link
G EFNB1 ephrin B1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:54,947,339...54,961,403
Ensembl chr  X:54,948,342...54,973,629 		JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:16,429,625...16,449,581
Ensembl chr  X:16,429,628...16,449,556 		JBrowse link
G EIF2S3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,129,708...20,162,881
Ensembl chr  X:20,146,933...20,162,702 		JBrowse link
G ELF4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,617,747...106,661,340
Ensembl chr  X:106,617,753...106,661,108 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G ENOX2 ecto-NOX disulfide-thiol exchanger 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:107,084,378...107,368,520
Ensembl chr  X:107,085,503...107,368,473 		JBrowse link
G ERAS ES cell expressed Ras ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,942,033...42,946,715
Ensembl chr  X:42,941,664...42,946,524 		JBrowse link
G ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,087,216...58,117,942
Ensembl chr  X:58,087,169...58,117,947 		JBrowse link
G ESX1 ESX homeobox 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,995,241...85,007,557 JBrowse link
G F9 coagulation factor IX ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:114,218,704...114,250,436
Ensembl chr  X:114,218,707...114,250,429 		JBrowse link
G FAAH2 fatty acid amide hydrolase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:49,685,285...49,744,246 JBrowse link
G FAM120C family with sequence similarity 120 member C ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:46,777,904...46,904,232
Ensembl chr  X:46,777,923...46,904,579 		JBrowse link
G FAM133A family with sequence similarity 133 member A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:76,149,152...76,181,971
Ensembl chr  X:76,149,260...76,184,095 		JBrowse link
G FAM199X family with sequence similarity 199, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,937,153...84,966,438
Ensembl chr  X:84,937,209...84,962,406 		JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
G FATE1 fetal and adult testis expressed 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:123,106,086...123,113,178
Ensembl chr  X:123,099,746...123,113,171 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:47,191,838...47,231,656
Ensembl chr  X:47,192,427...47,231,342 		JBrowse link
G FGF13 fibroblast growth factor 13 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:113,460,191...113,955,691
Ensembl chr  X:113,460,191...113,932,715 		JBrowse link
G FGF16 fibroblast growth factor 16 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:61,551,487...61,561,807
Ensembl chr  X:61,552,460...61,561,954 		JBrowse link
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,309,989...111,367,900
Ensembl chr  X:111,356,011...111,367,903 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G FMR1 Fragile X messenger ribonucleoprotein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:120,361,232...120,400,282
Ensembl chr  X:120,361,367...120,399,831 		JBrowse link
G FMR1NB FMR1 neighbor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:120,421,266...120,458,866 JBrowse link
G FOXO4 forkhead box O4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:57,132,549...57,140,377
Ensembl chr  X:57,132,548...57,140,356 		JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G FOXR2 forkhead box R2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:48,174,318...48,181,106
Ensembl chr  X:48,178,487...48,179,434 		JBrowse link
G FRMD7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:108,241,116...108,294,188
Ensembl chr  X:108,240,573...108,294,206 		JBrowse link
G FRMPD3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:87,980,635...88,053,070
Ensembl chr  X:87,897,022...88,053,073 		JBrowse link
G FTHL17 ferritin heavy chain like 17 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:26,955,098...26,956,111
Ensembl chr  X:26,955,098...26,955,649 		JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,609,560...42,620,198
Ensembl chr  X:42,609,771...42,620,284 		JBrowse link
G FUNDC1 FUN14 domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:39,726,194...39,737,663
Ensembl chr  X:39,724,998...39,737,532 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:123,456,952...123,684,814
Ensembl chr  X:123,456,947...123,684,790 		JBrowse link
G GABRE gamma-aminobutyric acid type A receptor subunit epsilon ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:123,278,459...123,296,070
Ensembl chr  X:123,278,949...123,296,091 		JBrowse link
G GABRQ gamma-aminobutyric acid type A receptor subunit theta ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:123,834,884...123,855,187
Ensembl chr  X:123,834,997...123,850,278 		JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976 		JBrowse link
G GCNA germ cell nuclear acidic peptidase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:57,580,582...57,588,938 JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,449,430...56,460,399
Ensembl chr  X:56,449,425...56,460,392 		JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:57,241,990...57,249,496
Ensembl chr  X:57,242,045...57,249,885 		JBrowse link
G GK glycerol kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:26,470,422...26,558,892 JBrowse link
G GLA galactosidase alpha ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,570 		JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,877,034...42,889,285
Ensembl chr  X:42,877,140...42,889,271 		JBrowse link
G GNL3L G protein nucleolar 3 like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:47,256,467...47,284,520
Ensembl chr  X:47,256,505...47,284,520 		JBrowse link
G GP91-PHOX NADPH oxidase heavy chain subunit ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,643,648...33,680,580 		JBrowse link
G GPC3 glypican 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:109,536,495...109,973,605
Ensembl chr  X:109,536,504...109,973,607 		JBrowse link
G GPC4 glypican 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:109,306,489...109,421,947
Ensembl chr  X:109,306,368...109,421,785 		JBrowse link
G GPKOW G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,177,264...43,192,021
Ensembl chr  X:43,177,272...43,191,830 		JBrowse link
G GPR101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:112,109,592...112,111,333
Ensembl chr  X:112,108,889...112,113,652 		JBrowse link
G GPR119 G protein-coupled receptor 119 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,872,225...106,873,299
Ensembl chr  X:106,872,225...106,873,299 		JBrowse link
G GPR173 G protein-coupled receptor 173 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:45,883,738...45,908,197
Ensembl chr  X:45,883,767...45,908,537 		JBrowse link
G GPR174 G protein-coupled receptor 174 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:63,288,948...63,327,621
Ensembl chr  X:63,289,139...63,326,034 		JBrowse link
G GPR34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:37,306,490...37,313,626
Ensembl chr  X:37,306,509...37,313,923 		JBrowse link
G GPR50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:122,708,551...122,713,163
Ensembl chr  X:122,708,427...122,714,164 		JBrowse link
G GPR82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:37,328,672...37,334,144
Ensembl chr  X:37,328,678...37,334,984 		JBrowse link
G GPRASP1 G protein-coupled receptor associated sorting protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,765,210...83,810,090
Ensembl chr  X:83,765,303...83,810,085 		JBrowse link
G GPRASP2 G protein-coupled receptor associated sorting protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,811,733...83,892,476
Ensembl chr  X:83,803,177...83,892,475 		JBrowse link
G GPRASP3 G protein-coupled receptor associated sorting protein family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,895,554...83,911,573 JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:100,827,293...101,109,213
Ensembl chr  X:100,827,461...101,109,207 		JBrowse link
G GRIPAP1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,043,613...43,070,363
Ensembl chr  X:43,043,029...43,070,364 		JBrowse link
G GRPR gastrin releasing peptide receptor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,654,059...12,711,417
Ensembl chr  X:12,659,776...12,696,103 		JBrowse link
G GSPT2 G1 to S phase transition 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:45,193,336...45,195,939
Ensembl chr  X:45,193,338...45,195,901 		JBrowse link
G GUCY2F guanylate cyclase 2F, retinal ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:89,557,952...89,653,491 JBrowse link
G H2AP H2A.P histone ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,889,233...33,890,290 JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,234,735...124,258,133
Ensembl chr  X:124,234,736...124,258,098 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887 		JBrowse link
G HDAC8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,210,182...58,450,681
Ensembl chr  X:58,210,192...58,450,573 		JBrowse link
G HDX highly divergent homeobox ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,556,764...67,713,744
Ensembl chr  X:67,560,890...67,713,797 		JBrowse link
G HEPH hephaestin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:52,314,911...52,397,384
Ensembl chr  X:52,314,935...52,397,380 		JBrowse link
G HMGB3 high mobility group box 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:122,591,413...122,599,496
Ensembl chr  X:122,592,936...122,599,493 		JBrowse link
G HMGN5 high mobility group nucleosome binding domain 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:64,541,310...64,617,345 JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,032,525...83,038,369
Ensembl chr  X:83,032,621...83,038,361 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,321,144...110,357,902
Ensembl chr  X:110,321,204...110,357,894 		JBrowse link
G HS6ST2 heparan sulfate 6-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:108,755,577...109,043,976
Ensembl chr  X:108,757,821...109,044,056 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,548...46,220,883 		JBrowse link
G HTATSF1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,624,303...111,643,566
Ensembl chr  X:111,624,631...111,643,323 		JBrowse link
G HTR2C 5-hydroxytryptamine receptor 2C ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:94,053,415...94,313,352
Ensembl chr  X:94,053,456...94,313,355 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575 		JBrowse link
G IDS iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:121,572,797...121,596,525
Ensembl chr  X:121,572,807...121,596,513 		JBrowse link
G IGBP1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,173,773...56,206,121 JBrowse link
G IGSF1 immunoglobulin superfamily member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:107,674,966...108,050,736
Ensembl chr  X:107,674,972...107,691,141 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G IL13RA1 interleukin 13 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,300,960...97,353,754
Ensembl chr  X:97,300,466...97,356,133 		JBrowse link
G IL13RA2 interleukin 13 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:94,402,665...94,455,609
Ensembl chr  X:94,402,676...94,439,060 		JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:24,408,092...25,811,129
Ensembl chr  X:24,409,327...25,806,680 		JBrowse link
G IL1RAPL2 interleukin 1 receptor accessory protein like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:85,347,867...86,464,670
Ensembl chr  X:85,347,857...86,463,507 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:57,143,568...57,151,242
Ensembl chr  X:57,143,570...57,147,256 		JBrowse link
G INTS6L integrator complex subunit 6 like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,011,860...111,072,939
Ensembl chr  X:111,011,865...111,072,935 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:46,011,386...46,094,978
Ensembl chr  X:46,011,388...46,094,817 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G IRS4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:89,204,348...89,221,463
Ensembl chr  X:89,204,355...89,221,085 		JBrowse link
G ITGB1BP2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:57,316,490...57,321,614
Ensembl chr  X:57,316,471...57,325,096 		JBrowse link
G ITIH6 inter-alpha-trypsin inhibitor heavy chain family member 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:47,537,909...47,584,419 JBrowse link
G ITM2A integral membrane protein 2A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:63,430,020...63,437,027
Ensembl chr  X:63,430,021...63,437,032 		JBrowse link
G JADE3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:41,579,565...41,714,705
Ensembl chr  X:41,579,764...41,714,706 		JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,032,355...43,043,310
Ensembl chr  X:43,032,358...43,041,760 		JBrowse link
G KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:89,741,187...89,742,732
Ensembl chr  X:89,741,190...89,742,672 		JBrowse link
G KDM5C lysine demethylase 5C ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:45,968,812...46,003,215
Ensembl chr  X:45,968,814...46,003,215 		JBrowse link
G KDM6A lysine demethylase 6A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:39,953,764...40,154,197
Ensembl chr  X:39,953,814...40,154,029 		JBrowse link
G KIAA1210 KIAA1210 ortholog ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,581,400...97,651,765 JBrowse link
G KIF4A kinesin family member 4A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,319,453...56,447,560
Ensembl chr  X:56,319,529...56,447,553 		JBrowse link
G KLF8 KLF transcription factor 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:48,663,063...48,752,359
Ensembl chr  X:48,663,361...48,748,546 		JBrowse link
G KLHL13 kelch like family member 13 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:96,545,099...96,950,242
Ensembl chr  X:96,544,095...96,744,764 		JBrowse link
G KLHL15 kelch like family member 15 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,088,208...20,130,452
Ensembl chr  X:20,091,904...20,129,561 		JBrowse link
G KLHL34 kelch like family member 34 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:17,838,070...17,841,718
Ensembl chr  X:17,839,245...17,841,191 		JBrowse link
G KLHL4 kelch like family member 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:70,334,755...70,436,299
Ensembl chr  X:70,334,774...70,435,109 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,586,718...98,623,939
Ensembl chr  X:98,556,710...98,623,940 		JBrowse link
G LANCL3 LanC like family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,426,731...33,543,506
Ensembl chr  X:33,427,444...33,541,304 		JBrowse link
G LAS1L LAS1 like ribosome biogenesis factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:51,753,600...51,773,416
Ensembl chr  X:51,741,965...51,773,411 		JBrowse link
G LDOC1 LDOC1 regulator of NFKB signaling ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:115,580,622...115,583,129
Ensembl chr  X:115,579,486...115,584,357 		JBrowse link
G LHFPL1 LHFPL tetraspan subfamily member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:92,422,913...92,542,291
Ensembl chr  X:92,422,918...92,481,761 		JBrowse link
G LOC100153087 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,338,757...83,361,973 JBrowse link
G LOC100154079 melanoma-associated antigen B1-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:26,044,526...26,076,729 JBrowse link
G LOC100154405 actin-related protein T1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:104,936,448...104,941,473
Ensembl chr  X:104,937,348...104,938,481 		JBrowse link
G LOC100156285 melanoma-associated antigen 10-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:121,688,350...121,691,552 JBrowse link
G LOC100511430 spermatid nuclear transition protein 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:118,621,838...118,622,598 JBrowse link
G LOC100513448 melanoma-associated antigen B4-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:22,170,175...22,171,346 JBrowse link
G LOC100513450 P antigen family member 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,489,559...43,496,654
Ensembl chr  X:43,446,109...43,494,094 		JBrowse link
G LOC100513636 melanoma-associated antigen B3-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:22,188,608...22,189,561 JBrowse link
G LOC100513904 olfactory receptor 13H1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:107,894,520...107,895,892
Ensembl chr  X:107,894,810...107,895,736 		JBrowse link
G LOC100515118 protein PBDC1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,907,393...60,915,607
Ensembl chr  X:60,907,404...61,019,857 		JBrowse link
G LOC100515119 protein CXorf40A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:121,769,595...121,777,428 JBrowse link
G LOC100515809 DDB1- and CUL4-associated factor 8 pseudogene ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:23,567,816...23,570,915 JBrowse link
G LOC100518170 protein FAM127 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,833,247...110,834,588 JBrowse link
G LOC100518351 polyadenylate-binding protein 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:74,141,707...74,145,941
Ensembl chr  X:74,142,566...74,145,719 		JBrowse link
G LOC100519939 small integral membrane protein 10-like protein 2A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,959,731...110,963,079 JBrowse link
G LOC100520992 protein ARMCX6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,179,741...83,182,711
Ensembl chr  X:83,179,753...83,182,679 		JBrowse link
G LOC100521308 DDB1- and CUL4-associated factor 12-like protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,322,468...103,327,458
Ensembl chr  X:103,325,989...103,327,383 		JBrowse link
G LOC100521485 protein FAM127 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,810,150...110,811,475 JBrowse link
G LOC100522411 melanoma-associated antigen B16-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:31,592,308...31,597,919 JBrowse link
G LOC100525798 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,969,577...59,176,807
Ensembl chr  X:58,966,830...58,972,091 		JBrowse link
G LOC100526148 spindlin-2B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:49,492,205...49,507,749 JBrowse link
G LOC100621166 uncharacterized protein CXorf49 homolog ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:57,678,534...57,682,641 JBrowse link
G LOC100624836 protein FAM47E-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,004,811...33,006,091 JBrowse link
G LOC100627608 protein SSX1-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,559,714...42,567,979 JBrowse link
G LOC100737023 melanoma-associated antigen B18-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:22,082,917...22,084,040
Ensembl chr  X:22,083,012...22,084,040 		JBrowse link
G LOC100737849 transcription factor SPT20 homolog pseudogene ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:25,205,891...25,210,491 JBrowse link
G LOC100738684 malignant T-cell-amplified sequence 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr10:65,704,921...65,705,734 JBrowse link
G LOC102157657 uncharacterized LOC102157657 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,304,777...98,310,448 JBrowse link
G LOC102159844 melanoma-associated antigen B4-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:25,895,424...26,030,203 JBrowse link
G LOC102164431 nuclear RNA export factor 3-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,980,605...83,989,335 JBrowse link
G LOC110255204 melanoma-associated antigen D4-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868
G LOC110255254 melanoma-associated antigen B10-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:23,618,483...23,621,851
Ensembl chr  X:23,620,303...23,621,557 		JBrowse link
G LOC110257703 paraneoplastic antigen-like protein 6B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,203,040...124,204,023 JBrowse link
G LOC110257816 PWWP domain-containing protein MUM1L1-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:124,024,771...124,027,078 JBrowse link
G LOC110257823 uncharacterized LOC110257823 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:115,725,317...115,728,246 JBrowse link
G LOC110257871 heat shock transcription factor, Y-linked-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  Y:22,138,661...22,140,292 JBrowse link
G LOC110257872 heat shock transcription factor, Y-linked-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  Y:23,675,429...23,677,060 JBrowse link
G LOC110258620 zinc finger X-linked protein ZXDB ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,816,014...124,828,225 JBrowse link
G LONRF3 LON peptidase N-terminal domain and ring finger 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,494,305...97,547,813
Ensembl chr  X:97,494,328...97,534,185 		JBrowse link
G LPAR4 lysophosphatidic acid receptor 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:62,862,158...62,876,184
Ensembl chr  X:62,870,984...62,874,422 		JBrowse link
G LRCH2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:94,486,560...94,589,930
Ensembl chr  X:94,486,564...94,589,899 		JBrowse link
G LUZP4 leucine zipper protein 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:94,631,490...94,647,712 JBrowse link
G MAGEA10 MAGE family member A10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:123,400,803...123,401,915
Ensembl chr  X:123,400,803...123,401,909 		JBrowse link
G MAGEB3 MAGE family member B3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:26,044,502...26,055,412
Ensembl chr  X:26,053,954...26,054,997 		JBrowse link
G MAGED1 MAGE family member D1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:45,258,761...45,329,282
Ensembl chr  X:45,258,829...45,329,272 		JBrowse link
G MAGEE2 MAGE family member E2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,707,490...60,711,883
Ensembl chr  X:60,709,534...60,711,829 		JBrowse link
G MAGEH1 MAGE family member H1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:48,080,533...48,081,983
Ensembl chr  X:48,080,540...48,081,958 		JBrowse link
G MAGIX MAGI family member, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,206,680...43,212,889
Ensembl chr  X:43,207,062...43,211,635 		JBrowse link
G MAGT1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:61,894,237...61,958,511
Ensembl chr  X:61,894,965...61,958,517 		JBrowse link
G MAMLD1 mastermind like domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:122,120,275...122,233,692
Ensembl chr  X:122,120,300...122,234,472 		JBrowse link
G MAOA monoamine oxidase A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:38,930,452...39,006,220 JBrowse link
G MAOB monoamine oxidase B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:39,025,973...39,144,389
Ensembl chr  X:39,025,970...39,144,345 		JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,716,898...15,867,377
Ensembl chr  X:15,715,991...15,867,120 		JBrowse link
G MAP7D2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:16,327,718...16,423,546
Ensembl chr  X:16,327,968...16,422,772 		JBrowse link
G MAP7D3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,371,538...111,420,230 JBrowse link
G MBNL3 muscleblind like splicing regulator 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:108,488,224...108,612,896
Ensembl chr  X:108,494,939...108,612,875 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:18,013,360...18,054,250 JBrowse link
G MCF2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:114,258,082...114,356,106
Ensembl chr  X:114,258,074...114,356,156 		JBrowse link
G MECP2 methyl-CpG binding protein 2 susceptibility ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE | ClinVar Annotator: match by term: MECP2 duplication syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, Lubs type | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar
OMIM		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
G MED14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:36,354,057...36,424,837
Ensembl chr  X:36,354,061...36,424,715 		JBrowse link
G MID1IP1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:34,763,360...34,766,160
Ensembl chr  X:34,763,355...34,766,076 		JBrowse link
G MID2 midline 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:88,294,032...88,394,885
Ensembl chr  X:88,294,067...88,393,742 		JBrowse link
G MIR105-1 microRNA mir-105-1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:123,628,381...123,628,461
Ensembl chr  X:123,628,381...123,628,461 		JBrowse link
G MIR105-2 microRNA mir-105-2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:123,630,499...123,630,578
Ensembl chr  X:123,630,499...123,630,578 		JBrowse link
G MIR19B-2 microRNA mir-19b-2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,113,855...110,113,934
Ensembl chr  X:110,113,855...110,113,934 		JBrowse link
G MIR221 microRNA mir-221 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:40,571,068...40,571,137
Ensembl chr  X:40,571,068...40,571,137 		JBrowse link
G MIR222 microRNA mir-222 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:40,571,808...40,571,887
Ensembl chr  X:40,571,808...40,571,887 		JBrowse link
G MIR224 microRNA mir-224 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:123,283,427...123,283,507
Ensembl chr  X:123,283,427...123,283,507 		JBrowse link
G MIR452 microRNA mir-452 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:123,284,480...123,284,559
Ensembl chr  X:123,284,480...123,284,559 		JBrowse link
G MIR532 microRNA mir-532 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,705,258...43,705,337
Ensembl chr  X:43,705,258...43,705,337 		JBrowse link
G MIR98 microRNA mir-98 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:46,302,381...46,302,460
Ensembl chr  X:46,302,381...46,302,460 		JBrowse link
G MIRLET7F-1 microRNA let-7f-1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:46,303,245...46,303,327
Ensembl chr  X:46,303,245...46,303,327 		JBrowse link
G MMGT1 membrane magnesium transporter 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,145,712...111,158,298
Ensembl chr  X:111,144,233...111,158,335 		JBrowse link
G MORC4 MORC family CW-type zinc finger 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:87,369,311...87,427,296
Ensembl chr  X:87,369,319...87,427,253 		JBrowse link
G MORF4L2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,553,770...84,566,304
Ensembl chr  X:84,553,774...84,569,030 		JBrowse link
G MOSPD1 motile sperm domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,693,538...110,786,323
Ensembl chr  X:110,693,552...110,720,762 		JBrowse link
G MPC1L mitochondrial pyruvate carrier 1 like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:36,325,447...36,331,779
Ensembl chr  X:36,325,996...36,326,472 		JBrowse link
G MSN moesin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:51,844,197...51,967,674
Ensembl chr  X:51,844,156...51,970,107 		JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:122,286,904...122,379,302
Ensembl chr  X:122,286,916...122,379,299 		JBrowse link
G MTMR1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:122,394,768...122,455,266
Ensembl chr  X:122,394,921...122,453,905 		JBrowse link
G MTMR8 myotubularin related protein 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:50,931,199...51,077,796
Ensembl chr  X:50,935,136...51,077,766 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G NALF2 NALCN channel auxiliary factor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:55,631,149...55,658,309
Ensembl chr  X:55,631,037...55,658,303 		JBrowse link
G NAP1L3 nucleosome assembly protein 1 like 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:76,147,190...76,149,848
Ensembl chr  X:76,147,202...76,149,852 		JBrowse link
G NDP norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:39,208,115...39,235,879
Ensembl chr  X:39,208,119...39,235,758 		JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,219,717...98,223,873
Ensembl chr  X:98,219,988...98,223,868 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:41,770,929...41,773,879
Ensembl chr  X:41,770,941...41,774,245 		JBrowse link
G NEXMIF neurite extension and migration factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,967,712...60,013,938
Ensembl chr  X:59,972,373...60,120,021 		JBrowse link
G NHS NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:13,854,950...14,209,085
Ensembl chr  X:14,097,006...14,206,568 		JBrowse link
G NHSL2 NHS like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:57,741,172...58,028,266
Ensembl chr  X:57,742,114...58,030,951 		JBrowse link
G NKAP NFKB activating protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,233,504...98,276,839
Ensembl chr  X:98,256,632...98,276,773 		JBrowse link
G NKRF NFKB repressing factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,008,870...98,025,423
Ensembl chr  X:98,007,910...98,025,373 		JBrowse link
G NLGN3 neuroligin 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:57,174,506...57,204,770
Ensembl chr  X:57,176,103...57,201,461 		JBrowse link
G NOX1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:82,540,664...82,575,811
Ensembl chr  X:82,540,667...82,586,532 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:26,117,874...26,122,951
Ensembl chr  X:26,117,874...26,122,951 		JBrowse link
G NRK Nik related kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:86,534,467...86,663,340
Ensembl chr  X:86,534,488...86,663,337 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
G NUDT11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:44,912,160...44,918,977 JBrowse link
G NUP62CL nucleoporin 62 C-terminal like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:87,578,656...87,658,296
Ensembl chr  X:87,601,042...87,630,253 		JBrowse link
G NXT2 nuclear transport factor 2 like export factor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:89,684,733...89,691,808
Ensembl chr  X:89,684,671...89,691,805 		JBrowse link
G NYX nyctalopin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:37,080,197...37,105,513
Ensembl chr  X:37,080,278...37,105,510 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,124,991...106,188,066
Ensembl chr  X:106,135,431...106,190,110 		JBrowse link
G OGT O-linked N-acetylglucosamine (GlcNAc) transferase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:57,521,091...57,558,467
Ensembl chr  X:57,521,098...57,558,515 		JBrowse link
G OPHN1 oligophrenin 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:54,056,504...54,617,045
Ensembl chr  X:54,055,092...54,616,959 		JBrowse link
G OTC ornithine transcarbamylase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,821 		JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,001,491...43,029,471
Ensembl chr  X:43,000,231...43,029,468 		JBrowse link
G OTUD6A OTU deubiquitinase 6A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,134,479...56,137,096
Ensembl chr  X:56,134,853...56,135,722 		JBrowse link
G P2RY10 P2Y receptor family member 10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:63,112,517...63,128,280
Ensembl chr  X:63,112,579...63,130,495 		JBrowse link
G P2RY4 pyrimidinergic receptor P2Y4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,284,736...56,285,833
Ensembl chr  X:56,279,346...56,286,400 		JBrowse link
G PABIR2 PABIR family member 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,570,091...110,617,779
Ensembl chr  X:110,593,937...110,617,787 		JBrowse link
G PABIR3 PABIR family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,619,227...110,682,249 JBrowse link
G PABPC1L2A poly(A) binding protein cytoplasmic 1 like 2A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,851,255...58,852,978 JBrowse link
G PAGE2B PAGE family member 2B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:47,916,076...47,919,904
Ensembl chr  X:47,916,069...47,919,898 		JBrowse link
G PAK3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:90,941,976...91,244,331
Ensembl chr  X:90,942,077...91,238,565 		JBrowse link
G PCDH11X protocadherin 11 X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:74,462,811...75,191,930 JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:82,031,365...82,153,159
Ensembl chr  X:82,036,199...82,151,652 		JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,947,688...42,952,222
Ensembl chr  X:42,947,692...42,949,024 		JBrowse link
G PCYT1B phosphate cytidylyltransferase 1B, choline ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,605,769...20,743,081
Ensembl chr  X:20,605,945...20,743,134 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,699,924...15,718,908
Ensembl chr  X:15,700,050...15,718,903 		JBrowse link
G PDK3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,486,205...20,598,492
Ensembl chr  X:20,486,341...20,602,664 		JBrowse link
G PDZD11 PDZ domain containing 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,316,181...56,319,424
Ensembl chr  X:56,312,754...56,319,405 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369 		JBrowse link
G PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:47,771,751...47,859,079
Ensembl chr  X:47,765,154...47,859,061 		JBrowse link
G PGK1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:62,187,472...62,210,321
Ensembl chr  X:62,187,434...62,210,705 		JBrowse link
G PGRMC1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,735,402...97,743,424
Ensembl chr  X:97,735,244...97,743,423 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:18,199,396...18,420,985
Ensembl chr  X:18,203,174...18,418,004 		JBrowse link
G PHF6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,249,010...110,311,503
Ensembl chr  X:110,249,010...110,303,017 		JBrowse link
G PHF8 PHD finger protein 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:46,648,164...46,761,192
Ensembl chr  X:46,648,168...46,759,239 		JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,456,097...58,583,216
Ensembl chr  X:58,455,939...58,583,216 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,279,398...15,365,731
Ensembl chr  X:15,283,120...15,365,565 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:11,871,746...11,886,519
Ensembl chr  X:11,871,750...11,886,438 		JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,993,547...42,998,575
Ensembl chr  X:42,993,551...42,998,573 		JBrowse link
G PIN4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,069,758...58,082,243
Ensembl chr  X:58,069,793...58,082,239 		JBrowse link
G PIR pirin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:11,934,157...12,034,629
Ensembl chr  X:11,934,163...12,033,746 		JBrowse link
G PJA1 praja ring finger ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:55,274,294...55,280,583
Ensembl chr  X:55,274,298...55,280,530 		JBrowse link
G PLAC1 placenta enriched 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,403,257...110,592,117
Ensembl chr  X:110,403,437...110,539,258 		JBrowse link
G PLP1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,676,627...84,683,517
Ensembl chr  X:84,666,733...84,685,058 		JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,215,372...43,218,318
Ensembl chr  X:43,215,283...43,218,316 		JBrowse link
G PLS3 plastin 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:94,885,098...94,971,664
Ensembl chr  X:94,885,118...94,971,659 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,425,867...124,430,000
Ensembl chr  X:124,425,872...124,429,261 		JBrowse link
G PNMA5 PNMA family member 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:123,998,935...124,001,201
Ensembl chr  X:123,999,037...124,000,974 		JBrowse link
G PNMA6F PNMA family member 6F ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:124,144,682...124,147,565 JBrowse link
G POF1B POF1B actin binding protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,503,170...68,579,917
Ensembl chr  X:68,503,179...68,579,893 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,756,674...21,064,265
Ensembl chr  X:20,756,725...21,062,175 		JBrowse link
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,653,696...42,669,526
Ensembl chr  X:42,653,789...42,669,517 		JBrowse link
G POU3F4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,765,044...66,766,642
Ensembl chr  X:66,765,105...66,766,190 		JBrowse link
G PPEF1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,111,230...15,251,415
Ensembl chr  X:15,138,350...15,251,228 		JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,328,199...43,344,503
Ensembl chr  X:43,328,274...43,344,013 		JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,976,086...42,981,732
Ensembl chr  X:42,975,413...42,981,724 		JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,147,473...43,150,350 JBrowse link
G PRDX4 peroxiredoxin 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,800,153...19,819,575
Ensembl chr  X:19,797,550...19,819,571 		JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,218,271...43,230,368
Ensembl chr  X:43,218,277...43,230,367 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:88,074,861...88,101,925
Ensembl chr  X:88,074,965...88,101,910 		JBrowse link
G PRR32 proline rich 32 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,813,092...103,815,208
Ensembl chr  X:103,813,405...103,815,193 		JBrowse link
G PRRG1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,064,499...33,232,556
Ensembl chr  X:33,091,149...33,232,556 		JBrowse link
G PRRG3 proline rich and Gla domain 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:123,085,511...123,095,589
Ensembl chr  X:123,085,490...123,095,584 		JBrowse link
G PSMD10 proteasome 26S subunit, non-ATPase 10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:88,540,261...88,548,593
Ensembl chr  X:88,540,376...88,548,560 		JBrowse link
G PTCHD1 patched domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,508,501...19,563,298
Ensembl chr  X:19,507,739...19,561,828 		JBrowse link
G PWWP3B PWWP domain containing 3B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:86,785,317...86,814,631
Ensembl chr  X:86,785,325...86,814,625 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,708,402...106,723,803
Ensembl chr  X:106,712,398...106,723,404 		JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,721,269...84,733,000
Ensembl chr  X:84,721,274...84,732,990 		JBrowse link
G RADX RPA1 related single stranded DNA binding protein, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:87,025,603...87,103,503
Ensembl chr  X:87,025,603...87,103,501 		JBrowse link
G RAI2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,246,776...14,633,071
Ensembl chr  X:14,244,317...14,309,143 		JBrowse link
G RAP2C RAP2C, member of RAS oncogene family ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:108,332,623...108,348,432
Ensembl chr  X:108,332,628...108,348,396 		JBrowse link
G RBBP7 RB binding protein 7, chromatin remodeling factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:13,293,278...13,317,074
Ensembl chr  X:13,280,977...13,317,031 		JBrowse link
G RBM10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:41,773,232...41,803,656
Ensembl chr  X:41,773,232...41,803,653 		JBrowse link
G RBM3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,704,019...42,707,587
Ensembl chr  X:42,704,028...42,707,577 		JBrowse link
G RBM41 RNA binding motif protein 41 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:87,512,887...87,575,118
Ensembl chr  X:87,512,550...87,575,086 		JBrowse link
G RBMX RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,965,859...111,974,544
Ensembl chr  X:111,962,633...111,974,472 		JBrowse link
G RBMX2 RNA binding motif protein X-linked 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,880,912...106,890,391
Ensembl chr  X:106,880,912...106,890,390 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G REPS2 RALBP1 associated Eps domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:13,413,362...13,658,907
Ensembl chr  X:13,412,838...13,658,902 		JBrowse link
G RGN regucalcin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:41,725,660...41,749,736
Ensembl chr  X:41,726,526...41,749,381 		JBrowse link
G RIBC1 RIB43A domain with coiled-coils 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:46,202,213...46,218,691
Ensembl chr  X:46,208,669...46,218,382 		JBrowse link
G RIPPLY1 ripply transcriptional repressor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:87,315,355...87,319,580
Ensembl chr  X:87,315,358...87,319,113 		JBrowse link
G RLIM ring finger protein, LIM domain interacting ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,889,799...59,920,464
Ensembl chr  X:59,893,146...59,920,182 		JBrowse link
G RNF113A ring finger protein 113A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,218,689...98,219,931
Ensembl chr  X:98,218,565...98,219,773 		JBrowse link
G RNF128 ring finger protein 128 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:87,111,875...87,211,605
Ensembl chr  X:87,111,870...87,211,601 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:41,488,866...41,534,810
Ensembl chr  X:41,488,626...41,534,799 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:34,238,961...34,522,814
Ensembl chr  X:34,228,124...34,296,589 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791 		JBrowse link
G RPL36A ribosomal protein L36a ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,018,305...83,022,285
Ensembl chr  X:83,018,141...83,022,283 		JBrowse link
G RPL39 ribosomal protein L39 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,178,148...98,181,439
Ensembl chr  X:98,178,150...98,181,332 		JBrowse link
G RPS4X ribosomal protein S4 X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,149,302...58,155,179
Ensembl chr  X:58,149,318...58,155,157 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:16,452,401...16,576,854
Ensembl chr  X:16,452,405...16,576,859 		JBrowse link
G RPS6KA6 ribosomal protein S6 kinase A6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,234,684...67,415,114
Ensembl chr  X:67,236,473...67,415,010 		JBrowse link
G RRAGB Ras related GTP binding B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:48,286,584...48,330,196
Ensembl chr  X:48,286,592...48,330,195 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243 		JBrowse link
G RTL3 retrotransposon Gag like 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:62,725,700...62,727,236 JBrowse link
G RTL4 retrotransposon Gag like 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:91,920,451...92,333,326
Ensembl chr  X:92,223,747...92,335,430 		JBrowse link
G RTL5 retrotransposon Gag like 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,008,195...58,012,965
Ensembl chr  X:58,010,839...58,012,533 		JBrowse link
G RTL9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:90,553,099...90,565,001
Ensembl chr  X:90,559,021...90,565,035 		JBrowse link
G S100G S100 calcium binding protein G ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:13,107,611...13,114,213
Ensembl chr  X:13,107,402...13,114,213 		JBrowse link
G SASH3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,373,871...106,389,454
Ensembl chr  X:106,373,954...106,389,444 		JBrowse link
G SAT1 spermidine/spermine N1-acetyltransferase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,908,037...19,910,553
Ensembl chr  X:19,907,906...19,910,974 		JBrowse link
G SATL1 spermidine/spermine N1-acetyl transferase-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,356,415...68,383,729 JBrowse link
G SCML1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,210,164...14,222,053 JBrowse link
G SCML2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,715,357...14,823,016
Ensembl chr  X:14,717,606...14,823,413 		JBrowse link
G SEPTIN6 septin 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,033,212...98,106,082
Ensembl chr  X:98,031,890...98,161,607 		JBrowse link
G SERPINA7 serpin family A member 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:86,708,624...86,714,324
Ensembl chr  X:86,708,632...86,714,329 		JBrowse link
G SH2D1A SH2 domain containing 1A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:101,824,602...101,847,265
Ensembl chr  X:101,824,367...101,849,671 		JBrowse link
G SH3BGRL SH3 domain binding glutamate rich protein like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:64,617,350...64,709,006 JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,887,131...16,229,212
Ensembl chr  X:15,885,069...16,224,183 		JBrowse link
G SHROOM4 shroom family member 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:44,301,956...44,543,969
Ensembl chr  X:44,332,620...44,543,337 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980 		JBrowse link
G SLC16A2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,748,685...59,861,018
Ensembl chr  X:59,748,745...59,861,015 		JBrowse link
G SLC25A14 solute carrier family 25 member 14 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,828,695...106,859,128
Ensembl chr  X:106,829,402...106,859,120 		JBrowse link
G SLC25A43 solute carrier family 25 member 43 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,868,804...97,906,771
Ensembl chr  X:97,868,696...97,906,760 		JBrowse link
G SLC25A5 solute carrier family 25 member 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,919,295...97,922,245
Ensembl chr  X:97,919,290...97,922,239 		JBrowse link
G SLC25A53 solute carrier family 25 member 53 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,860,180...84,871,866
Ensembl chr  X:84,861,739...84,871,871 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,981,801...42,992,091
Ensembl chr  X:42,981,802...42,992,081 		JBrowse link
G SLC38A5 solute carrier family 38 member 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,590,608...42,601,537
Ensembl chr  X:42,590,607...42,601,502 		JBrowse link
G SLC6A14 solute carrier family 6 member 14 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:95,482,494...95,507,200
Ensembl chr  X:95,482,456...95,527,369 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G SLC7A3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,937,081...56,942,331
Ensembl chr  X:56,937,086...56,942,357 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,176,461...111,233,108
Ensembl chr  X:111,176,495...111,233,099 		JBrowse link
G SLC9A7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:41,233,308...41,399,032
Ensembl chr  X:41,236,246...41,398,999 		JBrowse link
G SLITRK2 SLIT and NTRK like family member 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:118,826,531...118,837,134
Ensembl chr  X:118,830,086...118,834,307 		JBrowse link
G SLITRK4 SLIT and NTRK like family member 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:117,145,647...117,157,275
Ensembl chr  X:117,148,744...117,156,801 		JBrowse link
G SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,039,961...106,116,156
Ensembl chr  X:106,039,969...106,116,139 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:46,143,738...46,202,187
Ensembl chr  X:46,144,920...46,218,543 		JBrowse link
G SMPX small muscle protein X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:17,889,030...17,938,206
Ensembl chr  X:17,889,030...17,938,293 		JBrowse link
G SMS spermine synthase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:18,118,332...18,169,396
Ensembl chr  X:18,118,256...18,169,390 		JBrowse link
G SNX12 sorting nexin 12 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:57,099,521...57,108,636
Ensembl chr  X:57,089,136...57,108,750 		JBrowse link
G SOWAHD sosondowah ankyrin repeat domain family member D ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,154,437...98,158,808
Ensembl chr  X:98,156,970...98,158,807 		JBrowse link
G SOX3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,017,704...115,020,601
Ensembl chr  X:115,019,232...115,020,578 		JBrowse link
G SPACA5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,476,719...42,478,783
Ensembl chr  X:42,476,587...42,478,921 		JBrowse link
G SPIN3 spindlin family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:49,351,952...49,356,901
Ensembl chr  X:49,355,448...49,356,224 		JBrowse link
G SPIN4 spindlin family member 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:49,976,956...49,981,312
Ensembl chr  X:49,976,950...49,981,084 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G SRPX sushi repeat containing protein X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:34,075,577...34,198,462
Ensembl chr  X:34,075,579...34,198,467 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:82,336,741...82,363,868
Ensembl chr  X:82,336,744...82,363,867 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637 		JBrowse link
G STAG2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:101,476,117...101,617,405
Ensembl chr  X:101,478,247...101,617,563 		JBrowse link
G STARD8 StAR related lipid transfer domain containing 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:54,773,189...54,856,716
Ensembl chr  X:54,773,171...54,856,711 		JBrowse link
G STEEP1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,974,596...97,986,281
Ensembl chr  X:97,974,604...97,986,278 		JBrowse link
G STK26 serine/threonine kinase 26 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:108,179,230...108,237,669
Ensembl chr  X:108,178,698...108,239,042 		JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,797,309...42,811,457
Ensembl chr  X:42,797,828...42,811,461 		JBrowse link
G SYAP1 synapse associated protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:13,181,948...13,206,948
Ensembl chr  X:13,181,953...13,208,341 		JBrowse link
G SYN1 synapsin I ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,090,245...42,142,254
Ensembl chr  X:42,090,246...42,142,224 		JBrowse link
G SYP synaptophysin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,232,190...43,246,764
Ensembl chr  X:43,232,192...43,246,680 		JBrowse link
G SYTL4 synaptotagmin like 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:82,367,546...82,437,439
Ensembl chr  X:82,367,549...82,437,401 		JBrowse link
G SYTL5 synaptotagmin like 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,798,296...34,066,127
Ensembl chr  X:33,798,291...34,036,242 		JBrowse link
G TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:26,632,547...26,729,039
Ensembl chr  X:26,632,551...26,729,051 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:57,382,211...57,466,700
Ensembl chr  X:57,382,354...57,466,697 		JBrowse link
G TAF7L TATA-box binding protein associated factor 7 like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:82,930,258...82,951,065
Ensembl chr  X:82,930,266...82,951,224 		JBrowse link
G TAF9B TATA-box binding protein associated factor 9b ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:62,214,331...62,228,782
Ensembl chr  X:62,214,338...62,229,021 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TASL TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:26,363,808...26,384,933
Ensembl chr  X:26,365,027...26,384,760 		JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,682,267...42,696,579
Ensembl chr  X:42,682,269...42,696,574 		JBrowse link
G TBC1D8B TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:87,217,327...87,291,054
Ensembl chr  X:87,217,424...87,291,037 		JBrowse link
G TBX22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:63,837,576...63,845,704
Ensembl chr  X:63,837,284...63,846,483 		JBrowse link
G TCEAL1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,518,999...84,521,020
Ensembl chr  X:84,519,005...84,521,009 		JBrowse link
G TCEAL2 transcription elongation factor A like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,577,181...83,582,946 JBrowse link
G TCEAL3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,485,887...84,490,011 JBrowse link
G TCEAL4 transcription elongation factor A like 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,475,232...84,477,380 JBrowse link
G TCEAL5 transcription elongation factor A like 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,192,480...84,193,013 JBrowse link
G TCEAL7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,247,651...84,249,858
Ensembl chr  X:84,247,726...84,249,856 		JBrowse link
G TCEAL8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,175,196...84,177,431
Ensembl chr  X:84,175,200...84,177,427 		JBrowse link
G TCEAL9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,276,985...84,279,377
Ensembl chr  X:84,277,034...84,279,367 		JBrowse link
G TENM1 teneurin transmembrane protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:101,853,340...102,641,299
Ensembl chr  X:101,856,267...102,641,186 		JBrowse link
G TENT5D terminal nucleotidyltransferase 5D ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:64,120,229...64,122,912
Ensembl chr  X:64,120,248...64,121,420 		JBrowse link
G TEX11 testis expressed 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,543,933...56,925,104
Ensembl chr  X:56,544,560...56,925,779 		JBrowse link
G TEX13A testis expressed 13A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:85,955,144...85,956,458 JBrowse link
G TEX13B testis expressed 13B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:88,431,789...88,434,544 JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,100,375...43,116,377
Ensembl chr  X:43,100,032...43,116,227 		JBrowse link
G TGIF2LX TGFB induced factor homeobox 2 like X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:72,894,181...72,894,630 JBrowse link
G THOC2 THO complex subunit 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:101,170,969...101,284,623
Ensembl chr  X:101,171,362...101,284,551 		JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,970,586...42,976,287
Ensembl chr  X:42,970,108...42,975,955 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:82,978,128...82,981,038
Ensembl chr  X:82,974,270...82,980,769 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:90,105,293...90,289,674
Ensembl chr  X:90,106,036...90,289,669 		JBrowse link
G TMEM185A transmembrane protein 185A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:121,648,807...121,682,484
Ensembl chr  X:121,648,803...121,682,427 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,695,050...124,699,349 JBrowse link
G TMEM255A transmembrane protein 255A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,412,286...98,464,683
Ensembl chr  X:98,413,949...98,464,660 		JBrowse link
G TMEM35A transmembrane protein 35A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:82,761,552...82,774,952
Ensembl chr  X:82,761,589...82,774,951 		JBrowse link
G TMEM47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,584,044...30,615,233
Ensembl chr  X:30,584,046...30,615,232 		JBrowse link
G TMSB15A thymosin beta 15A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,744,536...83,747,599 JBrowse link
G TMSB15B thymosin beta 15B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,815,565...84,871,809 JBrowse link
G TNMD tenomodulin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:82,269,323...82,292,083
Ensembl chr  X:82,269,239...82,292,246 		JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598 		JBrowse link
G TRMT2B tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:82,638,456...82,741,659
Ensembl chr  X:82,690,392...82,735,521 		JBrowse link
G TRO trophinin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:47,759,334...47,772,014
Ensembl chr  X:47,759,334...47,772,014 		JBrowse link
G TRPC5 transient receptor potential cation channel subfamily C member 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:91,716,334...91,988,364
Ensembl chr  X:91,721,644...91,988,120 		JBrowse link
G TRPC5OS TRPC5 opposite strand ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:91,821,128...91,823,780 JBrowse link
G TSC22D3 TSC22 domain family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:88,171,325...88,233,583
Ensembl chr  X:88,230,048...88,233,098 		JBrowse link
G TSPAN6 tetraspanin 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:82,323,634...82,328,919
Ensembl chr  X:82,323,624...82,328,903 		JBrowse link
G TSPAN7 tetraspanin 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:34,522,899...34,660,216
Ensembl chr  X:34,522,933...34,660,212 		JBrowse link
G TSPYL2 TSPY like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:45,909,688...45,916,859
Ensembl chr  X:45,909,719...45,916,857 		JBrowse link
G TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:47,186,610...47,192,465
Ensembl chr  X:47,186,643...47,192,452 		JBrowse link
G TXLNG taxilin gamma ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:13,229,680...13,292,371
Ensembl chr  X:13,229,754...13,290,147 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:41,810,726...41,832,818
Ensembl chr  X:41,814,101...41,832,812 		JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,925,136...98,007,551
Ensembl chr  X:97,925,131...98,012,278 		JBrowse link
G UBQLN2 ubiquilin 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:48,948,062...48,951,392
Ensembl chr  X:48,948,389...48,950,263 		JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,184,646...98,206,135
Ensembl chr  X:98,182,272...98,206,096 		JBrowse link
G UPRT uracil phosphoribosyltransferase homolog ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,426,955...60,448,174
Ensembl chr  X:60,426,975...60,451,480 		JBrowse link
G USP11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:41,851,534...41,866,357
Ensembl chr  X:41,851,602...41,866,355 		JBrowse link
G USP26 ubiquitin specific peptidase 26 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:109,092,622...109,095,548 JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,553,454...43,557,247
Ensembl chr  X:43,555,005...43,556,321 		JBrowse link
G USP51 ubiquitin specific peptidase 51 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:48,047,658...48,051,941
Ensembl chr  X:48,048,223...48,050,355 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:36,736,049...36,888,702
Ensembl chr  X:36,760,865...36,885,250 		JBrowse link
G UTP14A UTP14A small subunit processome component ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,479,028...106,500,389 JBrowse link
G UXT ubiquitously expressed prefoldin like chaperone ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,176,142...42,184,131
Ensembl chr  X:42,176,145...42,184,079 		JBrowse link
G VEGFD vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:11,893,254...11,933,923
Ensembl chr  X:11,893,259...11,933,809 		JBrowse link
G VGLL1 vestigial like family member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,662,565...111,684,676
Ensembl chr  X:111,662,621...111,683,504 		JBrowse link
G VMA21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:122,872,141...122,882,976 JBrowse link
G VSIG1 V-set and immunoglobulin domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:88,468,498...88,534,958
Ensembl chr  X:88,500,715...88,534,961 		JBrowse link
G VSIG4 V-set and immunoglobulin domain containing 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:52,175,601...52,198,635
Ensembl chr  X:52,175,607...52,198,566 		JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,774,597...42,793,055
Ensembl chr  X:42,774,588...42,793,055 		JBrowse link
G WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,715,097...42,730,200
Ensembl chr  X:42,722,730...42,730,199 		JBrowse link
G WDR44 WD repeat domain 44 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:96,950,288...97,027,069
Ensembl chr  X:96,950,288...97,027,050 		JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,477...43,156,234 		JBrowse link
G WNK3 WNK lysine deficient protein kinase 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:46,923,587...47,096,265
Ensembl chr  X:46,930,184...47,096,022 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:101,399,374...101,440,021
Ensembl chr  X:101,399,812...101,440,013 		JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,544,287...33,602,576
Ensembl chr  X:33,544,731...33,602,574 		JBrowse link
G XKRX XK related X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:82,614,592...82,630,188
Ensembl chr  X:82,610,758...82,630,310 		JBrowse link
G XPNPEP2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,333,785...106,363,412
Ensembl chr  X:106,333,825...106,362,187 		JBrowse link
G YIPF6 Yip1 domain family member 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:54,661,771...54,687,988
Ensembl chr  X:54,661,829...54,687,976 		JBrowse link
G ZBTB33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,370,137...98,413,686
Ensembl chr  X:98,405,319...98,414,279 		JBrowse link
G ZC3H12B zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:51,231,526...51,749,627
Ensembl chr  X:51,502,732...51,749,625 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:51,157,102...51,193,993
Ensembl chr  X:51,157,105...51,193,980 		JBrowse link
G ZCCHC13 zinc finger CCHC-type containing 13 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,613,770...59,615,086
Ensembl chr  X:59,613,996...59,614,511 		JBrowse link
G ZCCHC18 zinc finger CCHC-type containing 18 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,870,668...84,875,040 JBrowse link
G ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,485,559...60,585,192
Ensembl chr  X:60,485,565...60,584,784 		JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,397,139...106,436,103
Ensembl chr  X:106,401,245...106,436,014 		JBrowse link
G ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,215,906...124,227,853
Ensembl chr  X:124,216,324...124,224,778 		JBrowse link
G ZFX zinc finger protein X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,220,812...20,273,689
Ensembl chr  X:20,220,853...20,275,185 		JBrowse link
G ZIC3 Zic family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:112,592,951...112,605,087
Ensembl chr  X:112,593,301...112,604,814 		JBrowse link
G ZMAT1 zinc finger matrin-type 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:83,396,325...83,559,247
Ensembl chr  X:83,396,333...83,432,546 		JBrowse link
G ZMYM3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:57,261,923...57,279,427
Ensembl chr  X:57,261,924...57,278,495 		JBrowse link
G ZNF157 zinc finger protein 157 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:41,905,319...41,921,484
Ensembl chr  X:41,905,226...41,920,880 		JBrowse link
G ZNF182 zinc finger protein 182 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,444,227...42,473,308
Ensembl chr  X:42,444,230...42,473,285 		JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:123,942,981...123,988,102
Ensembl chr  X:123,944,210...123,987,962 		JBrowse link
G ZNF275 zinc finger protein 275 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:124,156,708...124,173,566 JBrowse link
G ZNF280C zinc finger protein 280C ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,735,129...106,795,789
Ensembl chr  X:106,735,137...106,795,714 		JBrowse link
G ZNF41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:41,931,036...41,984,439
Ensembl chr  X:41,934,977...41,984,595 		JBrowse link
G ZNF449 zinc finger protein 449 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,928,168...110,948,607
Ensembl chr  X:110,928,720...110,948,614 		JBrowse link
G ZNF630 zinc finger protein 630 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,518,203...42,540,677
Ensembl chr  X:42,518,211...42,540,232 		JBrowse link
G ZNF674 zinc finger protein 674 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:41,090,146...41,118,627 JBrowse link
G ZNF711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,475,512...68,499,329
Ensembl chr  X:68,475,636...68,499,321 		JBrowse link
G ZNF75D zinc finger protein 75D ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,890,310...110,904,067
Ensembl chr  X:110,890,341...110,904,062 		JBrowse link
G ZNF81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,246,548...42,372,191
Ensembl chr  X:42,246,751...42,468,024 		JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,336,635...12,365,071
Ensembl chr  X:12,336,677...12,367,227 		JBrowse link
syndromic X-linked intellectual disability Najm type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6AP2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:36,271,154...36,300,240
Ensembl chr  X:36,271,222...36,304,181 		JBrowse link
G BCOR BCL6 corepressor ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:35,768,013...35,891,013
Ensembl chr  X:35,768,017...35,814,833 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19165920 More... NCBI chr  X:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160 		JBrowse link
G CXHXorf38 chromosome X CXorf38 homolog ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:36,330,684...36,351,903
Ensembl chr  X:36,328,653...36,351,826 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:36,988,031...37,005,496
Ensembl chr  X:36,988,031...37,018,202 		JBrowse link
G GPR34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chr  X:37,306,490...37,313,626
Ensembl chr  X:37,306,509...37,313,923 		JBrowse link
G GPR82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chr  X:37,328,672...37,334,144
Ensembl chr  X:37,328,678...37,334,984 		JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type ClinVar PMID:1301956 PMID:9654205 PMID:9974426 PMID:11139254 PMID:11317361 More... NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827 		JBrowse link
G MED14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:36,354,057...36,424,837
Ensembl chr  X:36,354,061...36,424,715 		JBrowse link
G MPC1L mitochondrial pyruvate carrier 1 like ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:36,325,447...36,331,779
Ensembl chr  X:36,325,996...36,326,472 		JBrowse link
G NYX nyctalopin ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:37,080,197...37,105,513
Ensembl chr  X:37,080,278...37,105,510 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:36,736,049...36,888,702
Ensembl chr  X:36,760,865...36,885,250 		JBrowse link
syndromic X-linked intellectual disability Nascimento type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBE2A ubiquitin conjugating enzyme E2 A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Nascimento type OMIM
ClinVar		 PMID:16909393 PMID:20412111 PMID:25741868 PMID:32415735 NCBI chr  X:97,925,136...98,007,551
Ensembl chr  X:97,925,131...98,012,278 		JBrowse link
syndromic X-linked intellectual disability Pilorge type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type ClinVar PMID:20479760 PMID:25741868 PMID:28588452 NCBI chr  X:11,386,360...11,408,958
Ensembl chr  X:11,384,912...11,409,057 		JBrowse link
G GLRA2 glycine receptor alpha 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type OMIM
ClinVar		 PMID:20479760 PMID:25741868 PMID:26370147 PMID:28135719 PMID:28492532 More... NCBI chr  X:11,111,655...11,288,496
Ensembl chr  X:11,111,822...11,288,587 		JBrowse link
syndromic X-linked intellectual disability Raymond type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317 		JBrowse link
G APLN apelin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type ClinVar PMID:17436253 PMID:22796527 PMID:24357419 PMID:28492532 NCBI chr  X:106,236,746...106,246,563
Ensembl chr  X:106,236,749...106,246,377 		JBrowse link
G BCORL1 BCL6 corepressor like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:106,547,754...106,613,130
Ensembl chr  X:106,549,139...106,612,894 		JBrowse link
G ELF4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:106,617,747...106,661,340
Ensembl chr  X:106,617,753...106,661,108 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type ClinVar PMID:17436253 PMID:22796527 PMID:24357419 PMID:28492532 NCBI chr  X:106,124,991...106,188,066
Ensembl chr  X:106,135,431...106,190,110 		JBrowse link
G SASH3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type ClinVar PMID:17436253 PMID:22796527 PMID:24357419 PMID:28492532 NCBI chr  X:106,373,871...106,389,454
Ensembl chr  X:106,373,954...106,389,444 		JBrowse link
G UTP14A UTP14A small subunit processome component ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:106,479,028...106,500,389 JBrowse link
G XPNPEP2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type ClinVar PMID:17436253 PMID:22796527 PMID:24357419 PMID:28492532 NCBI chr  X:106,333,785...106,363,412
Ensembl chr  X:106,333,825...106,362,187 		JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type OMIM
ClinVar		 PMID:9536098 PMID:17436253 PMID:17576681 PMID:19377476 PMID:22796527 More... NCBI chr  X:106,397,139...106,436,103
Ensembl chr  X:106,401,245...106,436,014 		JBrowse link
syndromic X-linked intellectual disability Shashi type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBMX RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Shashi type OMIM
ClinVar		 PMID:10677307 PMID:25256757 PMID:25741868 NCBI chr  X:111,965,859...111,974,544
Ensembl chr  X:111,962,633...111,974,472 		JBrowse link
syndromic X-linked intellectual disability Siderius type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHF8 PHD finger protein 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type OMIM
ClinVar		 PMID:10398231 PMID:16199551 PMID:17594395 PMID:17661819 PMID:25741868 More... NCBI chr  X:46,648,164...46,761,192
Ensembl chr  X:46,648,168...46,759,239 		JBrowse link
syndromic X-linked intellectual disability Snyder type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMS spermine synthase ISO ClinVar Annotator: match by term: SMS-Related Disorder | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Snyder type OMIM
ClinVar		 PMID:5823961 PMID:14508504 PMID:18550699 PMID:19206178 PMID:19377476 More... NCBI chr  X:18,118,332...18,169,396
Ensembl chr  X:18,118,256...18,169,390 		JBrowse link
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chr  X:120,777,559...121,263,574
Ensembl chr  X:120,777,734...121,263,569 		JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chr 6:67,605,863...68,471,922
Ensembl chr 6:67,605,790...68,471,920 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-related condition | ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type OMIM
ClinVar		 PMID:6107045 PMID:7943042 PMID:7943044 PMID:9536098 PMID:16700052 More... NCBI chr  X:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560 		JBrowse link
syndromic X-linked intellectual disability type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ISO ClinVar Annotator: match by term: CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR | ClinVar Annotator: match by term: HSD10 mitochondrial disease | ClinVar Annotator: match by term: HSD17B10-Related Disorder OMIM
ClinVar		 PMID:10521307 PMID:11102558 PMID:12112118 PMID:12555940 PMID:12696021 More... NCBI chr  X:46,218,540...46,220,942
Ensembl chr  X:46,218,548...46,220,883 		JBrowse link
syndromic X-linked intellectual disorder Lujan-Fryns-type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Lujan Syndrome | ClinVar Annotator: match by term: MED12-related intellectual disability syndrome | ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome OMIM
ClinVar		 PMID:6711603 PMID:10405444 PMID:16199547 PMID:17334363 PMID:17369503 More... NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
Syndromic X-Linked Mental Retardation 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAF1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33 | ClinVar Annotator: match by term: TAF1-related syndromic intellectual disability OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26637982 PMID:28492532 More... NCBI chr  X:57,382,211...57,466,700
Ensembl chr  X:57,382,354...57,466,697 		JBrowse link
syndromic X-linked mental retardation 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL10 ribosomal protein L10 susceptibility ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 ClinVar
OMIM		 PMID:7626060 PMID:18258260 PMID:25316788 PMID:25741868 PMID:25846674 More... NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791 		JBrowse link
syndromic X-linked mental retardation Hough type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HOUGE TYPE OMIM
ClinVar		 PMID:25223753 PMID:25644381 PMID:25741868 PMID:28098945 PMID:28492532 NCBI chr  X:17,561,114...17,838,034
Ensembl chr  X:17,561,260...17,838,493 		JBrowse link
Systemic Autoinflammatory Disease, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED OMIM
ClinVar		 PMID:25741868 NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
TARP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBM10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: TARP syndrome OMIM
ClinVar		 PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 More... NCBI chr  X:41,773,232...41,803,656
Ensembl chr  X:41,773,232...41,803,653 		JBrowse link
terminal osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: Terminal osseous dysplasia | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome OMIM
ClinVar		 PMID:9536098 PMID:9800904 PMID:10982489 PMID:10982965 PMID:12612583 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
Thrombocytopenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO associated with Beta-Thalassemia;DNA:missense mutation: :p.R216Q (human) RGD PMID:12200364 RGD:10450747 NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976 		JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 | ClinVar Annotator: match by term: Thrombocytopenia 1 | ClinVar Annotator: match by term: Thrombocytopenia, X-linked OMIM
ClinVar		 PMID:3284030 PMID:7579329 PMID:7753869 PMID:7795648 PMID:8528198 More... NCBI chr  X:42,774,597...42,793,055
Ensembl chr  X:42,774,588...42,793,055 		JBrowse link
Thyroxine-Binding Globulin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINA7 serpin family A member 7 ISO ClinVar Annotator: match by term: Thyroxine-binding globulin deficiency | ClinVar Annotator: match by term: Thyroxine-binding globulin deficiency, partial ClinVar PMID:1901689 PMID:2155256 PMID:2495303 PMID:3093522 PMID:25741868 More... NCBI chr  X:86,708,624...86,714,324
Ensembl chr  X:86,708,632...86,714,329 		JBrowse link
Tonne-Kalscheuer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RLIM ring finger protein, LIM domain interacting ISO ClinVar Annotator: match by term: RLIM-related syndromic intellectual disability | ClinVar Annotator: match by term: TONNE-KALSCHEUER SYNDROME OMIM
ClinVar		 PMID:25644381 PMID:25735484 PMID:25741868 PMID:29728705 PMID:29742418 NCBI chr  X:59,889,799...59,920,464
Ensembl chr  X:59,893,146...59,920,182 		JBrowse link
Van Esch-O'Driscoll syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLA1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: X-linked intellectual disability, van Esch type OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27019227 PMID:28492532 More... NCBI chr  X:20,756,674...21,064,265
Ensembl chr  X:20,756,725...21,062,175 		JBrowse link
VEXAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBA1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: VEXAS syndrome OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:33108101 PMID:33690815 More... NCBI chr  X:41,810,726...41,832,818
Ensembl chr  X:41,814,101...41,832,812 		JBrowse link
Waisman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome ClinVar PMID:25434005 NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Basal ganglia disorder with mental retardation | ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome OMIM
ClinVar		 PMID:1674730 PMID:4025396 PMID:25434005 PMID:25741868 PMID:26399558 More... NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZC3H12B zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:51,231,526...51,749,627
Ensembl chr  X:51,502,732...51,749,625 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted OMIM
ClinVar		 PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972 NCBI chr  X:51,157,102...51,193,993
Ensembl chr  X:51,157,105...51,193,980 		JBrowse link
Wilson-Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDAC8 histone deacetylase 8 ISO DNA:snp:intron:c.164+5G>A (human) RGD PMID:22889856 RGD:13208817 NCBI chr  X:58,210,182...58,450,681
Ensembl chr  X:58,210,192...58,450,573 		JBrowse link
G LAS1L LAS1 like ribosome biogenesis factor ISO ClinVar Annotator: match by term: Wilson-Turner syndrome OMIM
ClinVar		 PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532 NCBI chr  X:51,753,600...51,773,416
Ensembl chr  X:51,741,965...51,773,411 		JBrowse link
G ZC3H12B zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wilson-Turner syndrome ClinVar NCBI chr  X:51,231,526...51,749,627
Ensembl chr  X:51,502,732...51,749,625 		JBrowse link
Wiskott-Aldrich syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP3 forkhead box P3 ISO OMIM:301000 | OMIM:614493 MouseDO NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Aldrich syndrome | ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated OMIM
ClinVar		 PMID:2906042 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7735919 More... NCBI chr  X:42,774,597...42,793,055
Ensembl chr  X:42,774,588...42,793,055 		JBrowse link
G WASHC4 WASH complex subunit 4 ISO OMIM:301000 MouseDO NCBI chr 5:79,417,119...79,474,655
Ensembl chr 5:79,417,130...79,474,609 		JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:80,521,032...80,646,462 JBrowse link
G WRN WRN RecQ like helicase ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome ClinVar PMID:10069711 PMID:10220139 PMID:16786514 PMID:18414213 PMID:19824023 More... NCBI chr15:53,966,968...54,094,855
Ensembl chr15:53,966,986...54,094,587 		JBrowse link
Wiskott-Aldrich Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 ClinVar PMID:28492532 NCBI chr15:80,673,072...80,692,256
Ensembl chr15:80,673,067...80,692,208 		JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22231303 PMID:24033266 PMID:25741868 More... NCBI chr15:80,521,032...80,646,462 JBrowse link
Wittwer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTBP1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:475,164...496,510
Ensembl chr 8:475,888...496,002 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:365,367...378,384
Ensembl chr 8:365,181...378,375 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:898,178...926,500
Ensembl chr 8:898,181...926,593 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chr 8:938,832...1,018,032
Ensembl chr 8:964,893...1,018,028 		JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar NCBI chr 4:87,162,873...87,194,193
Ensembl chr 4:87,162,818...87,194,170 		JBrowse link
X-linked Aarskog syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: FGD1-Related Disorders | ClinVar Annotator: match by term: FGD1-related condition OMIM
ClinVar		 PMID:11940089 PMID:14560308 PMID:21739585 PMID:23211637 PMID:25046119 More... NCBI chr  X:47,191,838...47,231,656
Ensembl chr  X:47,192,427...47,231,342 		JBrowse link
G TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:47,186,610...47,192,465
Ensembl chr  X:47,186,643...47,192,452 		JBrowse link
X-linked adrenal hypoplasia congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G FTHL17 ferritin heavy chain like 17 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:26,955,098...26,956,111
Ensembl chr  X:26,955,098...26,955,649 		JBrowse link
G GK glycerol kinase ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:26,470,422...26,558,892 JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:24,408,092...25,811,129
Ensembl chr  X:24,409,327...25,806,680 		JBrowse link
G LOC100154079 melanoma-associated antigen B1-like ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:26,044,526...26,076,729 JBrowse link
G LOC102159844 melanoma-associated antigen B4-like ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:25,895,424...26,030,203 JBrowse link
G MAGEB3 MAGE family member B3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:26,044,502...26,055,412
Ensembl chr  X:26,053,954...26,054,997 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 ISO ClinVar Annotator: match by term: Adrenal hypoplasia, congenital | ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked OMIM
ClinVar		 PMID:6891556 PMID:7609262 PMID:7990953 PMID:7990958 PMID:8636263 More... NCBI chr  X:26,117,874...26,122,951
Ensembl chr  X:26,117,874...26,122,951 		JBrowse link
G TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:26,632,547...26,729,039
Ensembl chr  X:26,632,551...26,729,051 		JBrowse link
G TASL TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:26,363,808...26,384,933
Ensembl chr  X:26,365,027...26,384,760 		JBrowse link
X-linked agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase ameliorates ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia
Human gene in mouse model
human gene in a mouse model		 OMIM
ClinVar
RGD		 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 PMID:7627183 More... RGD:124713551 RGD:124715475 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO OMIM:300310 | OMIM:300755 MouseDO NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609 		JBrowse link
X-linked Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATG4A autophagy related 4A cysteine peptidase ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:88,545,924...88,633,328
Ensembl chr  X:88,548,751...88,633,321 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12028435 PMID:17396119 PMID:19129241 PMID:19675380 PMID:20029656 More... NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,476,257...128,595,477 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: X-linked Alport syndrome OMIM
ClinVar		 PMID:1330889 PMID:1352287 PMID:1363780 PMID:1376965 PMID:1577459 More... NCBI chr  X:88,958,837...89,183,306
Ensembl chr  X:88,958,849...89,183,372 		JBrowse link
G COL4A6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:88,634,925...88,750,938
Ensembl chr  X:88,634,930...88,957,416 		JBrowse link
G FN1 fibronectin 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014 		JBrowse link
G MSR1 macrophage scavenger receptor 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 More... NCBI chr17:3,859,903...3,939,612
Ensembl chr17:3,859,692...3,939,726 		JBrowse link
G ZC3H12C zinc finger CCCH-type containing 12C ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 NCBI chr 9:38,133,440...38,209,365
Ensembl chr 9:38,138,004...38,207,027 		JBrowse link
X-linked atrophic macular degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Macular degeneration, X-linked atrophic OMIM
ClinVar		 PMID:8673101 PMID:12160730 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:34,238,961...34,522,814
Ensembl chr  X:34,228,124...34,296,589 		JBrowse link
X-linked cardiac valvular dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked OMIM
ClinVar		 PMID:240645 PMID:1854572 PMID:8230166 PMID:9497244 PMID:9536098 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
X-linked chondrodysplasia punctata 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSE arylsulfatase E (chondrodysplasia punctata 1) ISO ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 OMIM
ClinVar		 PMID:1557308 PMID:2722194 PMID:7720070 PMID:9409863 PMID:9497243 More... NCBI chr  X:131,769...156,083
Ensembl chr  X:131,773...155,841 		JBrowse link
G EBP EBP cholestenol delta-isomerase ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:42,670,592...42,678,571
Ensembl chr  X:42,670,633...42,678,570 		JBrowse link
G LOC100624032 arylsulfatase D ISO ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 ClinVar PMID:9497243 PMID:12567415 PMID:23470839 PMID:28492532 NCBI chr  X:107,992...125,985
Ensembl chr  X:107,993...125,958 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
X-linked chondrodysplasia punctata 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant | ClinVar Annotator: match by term: Chondrodysplasia punctata 2, X-linked dominant, atypical | ClinVar Annotator: match by term: Happle syndrome | ClinVar Annotator: match by term: Hunermann-Conradi Syndrome OMIM
ClinVar		 PMID:1355069 PMID:7677157 PMID:10391218 PMID:10391219 PMID:10710233 More... NCBI chr  X:42,670,592...42,678,571
Ensembl chr  X:42,670,633...42,678,570 		JBrowse link
X-linked chronic granulomatous disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYBA cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:28492532 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420 		JBrowse link
G DYNLT3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:33,711,993...33,724,596
Ensembl chr  X:33,711,492...33,724,683 		JBrowse link
G GP91-PHOX NADPH oxidase heavy chain subunit treatment ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked | ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant OMIM
ClinVar
RGD		 PMID:1347621 PMID:1438069 PMID:1520880 PMID:1710153 PMID:1719419 More... RGD:11040567 NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,643,648...33,680,580 		JBrowse link
G H2AP H2A.P histone ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:33,889,233...33,890,290 JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED ClinVar PMID:25741868 NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,266...11,839,354 		JBrowse link
G OTC ornithine transcarbamylase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,821 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:34,238,961...34,522,814
Ensembl chr  X:34,228,124...34,296,589 		JBrowse link
G SRPX sushi repeat containing protein X-linked ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:34,075,577...34,198,462
Ensembl chr  X:34,075,579...34,198,467 		JBrowse link
G SYTL5 synaptotagmin like 5 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:33,798,296...34,066,127
Ensembl chr  X:33,798,291...34,036,242 		JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:8634410 PMID:9585602 PMID:20729109 PMID:22929960 PMID:27701760 More... NCBI chr  X:33,544,287...33,602,576
Ensembl chr  X:33,544,731...33,602,574 		JBrowse link
X-linked chronic idiopathic intestinal pseudo-obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: CIIP X-linked | ClinVar Annotator: match by term: Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked OMIM
ClinVar		 PMID:10982489 PMID:12612583 PMID:16417552 PMID:16822260 PMID:18414213 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
X-linked cleft palate with or without ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Cleft palate X-linked | ClinVar Annotator: match by term: Cleft palate with or without ankyloglossia, X-linked OMIM
ClinVar		 PMID:839509 PMID:14729838 PMID:16247549 PMID:17868388 PMID:22784330 More... NCBI chr  X:63,837,576...63,845,704
Ensembl chr  X:63,837,284...63,846,483 		JBrowse link
X-linked cone-rod dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PBX3 PBX homeobox 3 ISO ClinVar Annotator: match by term: X-linked cone-rod dystrophy ClinVar NCBI chr 1:266,383,311...266,610,646
Ensembl chr 1:266,382,640...266,610,640 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: X-linked cone-rod dystrophy | ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1 OMIM
ClinVar		 PMID:8673101 PMID:10482958 PMID:10937588 PMID:11857109 PMID:11875055 More... NCBI chr  X:34,238,961...34,522,814
Ensembl chr  X:34,228,124...34,296,589 		JBrowse link
X-linked cone-rod dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: X-linked cone-rod dystrophy 3 OMIM
ClinVar		 PMID:9662399 PMID:11281458 PMID:15897456 PMID:16199547 PMID:17525176 More... NCBI chr  X:43,250,449...43,284,458
Ensembl chr  X:43,251,370...43,283,990 		JBrowse link
X-linked congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Vas deferens, congenital bilateral aplasia of, X-linked OMIM
ClinVar		 PMID:25741868 PMID:27476656 NCBI chr  X:15,370,327...15,518,746
Ensembl chr  X:15,371,805...15,463,619 		JBrowse link
X-linked congenital hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP11C ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: X-linked congenital hemolytic anemia OMIM
ClinVar		 PMID:25741868 PMID:26944472 NCBI chr  X:114,394,436...114,575,658
Ensembl chr  X:114,394,439...114,574,071 		JBrowse link
X-linked deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1 OMIM
ClinVar		 PMID:8968763 PMID:10503584 PMID:15240907 PMID:17701900 PMID:20021999 More... NCBI chr  X:88,074,861...88,101,925
Ensembl chr  X:88,074,965...88,101,910 		JBrowse link
X-linked deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear ClinVar PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear ClinVar PMID:10730756 PMID:11017065 PMID:12419304 PMID:12788524 PMID:14708603 More... NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046 		JBrowse link
G POU3F4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: Deafness, X-linked 2 | ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear OMIM
ClinVar		 PMID:1783396 PMID:6662621 PMID:7581392 PMID:7839145 PMID:9298820 More... NCBI chr  X:66,765,044...66,766,642
Ensembl chr  X:66,765,105...66,766,190 		JBrowse link
X-linked deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMPX small muscle protein X-linked ISO ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE | ClinVar Annotator: match by term: Deafness, X-linked 4 OMIM
ClinVar		 PMID:8872482 PMID:21549336 PMID:21549342 PMID:22911656 PMID:25741868 More... NCBI chr  X:17,889,030...17,938,206
Ensembl chr  X:17,889,030...17,938,293 		JBrowse link
X-linked deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 OMIM
ClinVar		 PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 ClinVar PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 NCBI chr  X:106,708,402...106,723,803
Ensembl chr  X:106,712,398...106,723,404 		JBrowse link
X-linked deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: COL4A6-related condition | ClinVar Annotator: match by term: Deafness, X-linked 6 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23714752 PMID:25741868 PMID:26467025 More... NCBI chr  X:88,634,925...88,750,938
Ensembl chr  X:88,634,930...88,957,416 		JBrowse link
X-linked deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPRASP2 G protein-coupled receptor associated sorting protein 2 ISO ClinVar Annotator: match by term: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome OMIM
ClinVar		 PMID:25741868 NCBI chr  X:83,811,733...83,892,476
Ensembl chr  X:83,803,177...83,892,475 		JBrowse link
X-linked dilated cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK5RAP1 CDK5 regulatory subunit associated protein 1 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED ClinVar PMID:25741868 PMID:28492532 NCBI chr17:36,917,276...36,946,232
Ensembl chr17:36,915,953...36,946,187 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED OMIM
ClinVar		 PMID:2691353 PMID:7599638 PMID:7881286 PMID:8789442 PMID:8840119 More... NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
X-linked distal spinal muscular atrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE OMIM
ClinVar		 PMID:10570920 PMID:11241493 PMID:14985388 PMID:16083905 PMID:18414213 More... NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM20C FAM20C golgi associated secretory pathway kinase ISO mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chr 3:159,107...200,462
Ensembl chr 3:163,421...200,459 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked OMIM
ClinVar		 PMID:188828 PMID:2589938 PMID:3394683 PMID:7550339 PMID:9097956 More... NCBI chr  X:18,199,396...18,420,985
Ensembl chr  X:18,203,174...18,418,004 		JBrowse link
X-linked dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES OMIM
ClinVar		 PMID:871527 PMID:12200364 PMID:14691578 PMID:15895080 PMID:16783379 More... NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976 		JBrowse link
X-linked dyskeratosis congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: DKC1-related condition | ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked OMIM
ClinVar		 PMID:768476 PMID:1361371 PMID:3009302 PMID:7607282 PMID:9042917 More... NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked | ClinVar Annotator: match by term: Zinsser-Cole-Engman Syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23959892 PMID:25741868 PMID:26847928 More... NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690 		JBrowse link
X-linked dystonia-parkinsonism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAF1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: TAF1-related condition | ClinVar Annotator: match by term: X-linked dystonia-parkinsonism OMIM
ClinVar		 PMID:17273961 PMID:25741868 PMID:28492532 PMID:32396742 NCBI chr  X:57,382,211...57,466,700
Ensembl chr  X:57,382,354...57,466,697 		JBrowse link
X-linked Emery-Dreifuss muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMD emerin ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures		 OMIM
ClinVar		 PMID:7894480 PMID:8589715 PMID:8595406 PMID:8595407 PMID:8595433 More... NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:262236 PMID:2733290 PMID:9536098 PMID:11102973 PMID:11503164 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G SUN1 Sad1 and UNC84 domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:485,980...532,974
Ensembl chr 3:486,021...530,869 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:13,715,644...14,201,711 JBrowse link
X-linked Emery-Dreifuss muscular dystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMD emerin ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:25741868 NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 6 | ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy OMIM
ClinVar		 PMID:2663542 PMID:7722535 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr  X:111,309,989...111,367,900
Ensembl chr  X:111,356,011...111,367,903 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:25741868 NCBI chr15:84,226,953...84,501,320 JBrowse link
X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features OMIM
ClinVar		 PMID:25741868 PMID:27572814 PMID:29053855 NCBI chr  X:123,456,952...123,684,814
Ensembl chr  X:123,456,947...123,684,790 		JBrowse link
G MIR105-1 microRNA mir-105-1 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features ClinVar PMID:29053855 NCBI chr  X:123,628,381...123,628,461
Ensembl chr  X:123,628,381...123,628,461 		JBrowse link
G MIR105-2 microRNA mir-105-2 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features ClinVar PMID:29053855 NCBI chr  X:123,630,499...123,630,578
Ensembl chr  X:123,630,499...123,630,578 		JBrowse link
X-linked epilepsy with variable learning disabilities and behavior disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,885,584...43,895,142
Ensembl chr  X:43,885,394...43,895,981 		JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:42,078,202...42,090,250
Ensembl chr  X:42,078,206...42,090,250 		JBrowse link
G BMP15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:44,613,122...44,620,575
Ensembl chr  X:44,613,122...44,620,575 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,250,449...43,284,458
Ensembl chr  X:43,251,370...43,283,990 		JBrowse link
G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,128,938...43,146,777
Ensembl chr  X:43,134,275...43,146,775 		JBrowse link
G CCDC22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,285,232...43,303,865
Ensembl chr  X:43,285,246...43,303,864 		JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,922,729...43,988,939
Ensembl chr  X:43,922,804...43,990,929 		JBrowse link
G CDK16 cyclin dependent kinase 16 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:41,836,268...41,848,580
Ensembl chr  X:41,835,987...41,848,574 		JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:42,145,754...42,152,879
Ensembl chr  X:42,143,697...42,152,868 		JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,157,980...42,174,964
Ensembl chr  X:42,157,988...42,174,951 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,628...43,811,526 		JBrowse link
G DGKK diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:44,001,172...44,180,142
Ensembl chr  X:44,001,176...44,180,179 		JBrowse link
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,670,592...42,678,571
Ensembl chr  X:42,670,633...42,678,570 		JBrowse link
G ERAS ES cell expressed Ras ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,942,033...42,946,715
Ensembl chr  X:42,941,664...42,946,524 		JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,609,560...42,620,198
Ensembl chr  X:42,609,771...42,620,284 		JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976 		JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,877,034...42,889,285
Ensembl chr  X:42,877,140...42,889,271 		JBrowse link
G GPKOW G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,177,264...43,192,021
Ensembl chr  X:43,177,272...43,191,830 		JBrowse link
G GRIPAP1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,043,613...43,070,363
Ensembl chr  X:43,043,029...43,070,364 		JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887 		JBrowse link
G JADE3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:41,579,565...41,714,705
Ensembl chr  X:41,579,764...41,714,706 		JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,032,355...43,043,310
Ensembl chr  X:43,032,358...43,041,760 		JBrowse link
G LOC100513450 P antigen family member 4 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,489,559...43,496,654
Ensembl chr  X:43,446,109...43,494,094 		JBrowse link
G MAGIX MAGI family member, X-linked ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,206,680...43,212,889
Ensembl chr  X:43,207,062...43,211,635 		JBrowse link
G MIR532 microRNA mir-532 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,705,258...43,705,337
Ensembl chr  X:43,705,258...43,705,337 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:41,770,929...41,773,879
Ensembl chr  X:41,770,941...41,774,245 		JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,001,491...43,029,471
Ensembl chr  X:43,000,231...43,029,468 		JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,947,688...42,952,222
Ensembl chr  X:42,947,692...42,949,024 		JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,993,547...42,998,575
Ensembl chr  X:42,993,551...42,998,573 		JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,215,372...43,218,318
Ensembl chr  X:43,215,283...43,218,316 		JBrowse link
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,653,696...42,669,526
Ensembl chr  X:42,653,789...42,669,517 		JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,328,199...43,344,503
Ensembl chr  X:43,328,274...43,344,013 		JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,976,086...42,981,732
Ensembl chr  X:42,975,413...42,981,724 		JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,147,473...43,150,350 JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,218,271...43,230,368
Ensembl chr  X:43,218,277...43,230,367 		JBrowse link
G RBM10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:41,773,232...41,803,656
Ensembl chr  X:41,773,232...41,803,653 		JBrowse link
G RBM3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,704,019...42,707,587
Ensembl chr  X:42,704,028...42,707,577 		JBrowse link
G RGN regucalcin ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:41,725,660...41,749,736
Ensembl chr  X:41,726,526...41,749,381 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:41,488,866...41,534,810
Ensembl chr  X:41,488,626...41,534,799 		JBrowse link
G SHROOM4 shroom family member 4 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:44,301,956...44,543,969
Ensembl chr  X:44,332,620...44,543,337 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,981,801...42,992,091
Ensembl chr  X:42,981,802...42,992,081 		JBrowse link
G SLC38A5 solute carrier family 38 member 5 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,590,608...42,601,537
Ensembl chr  X:42,590,607...42,601,502 		JBrowse link
G SLC9A7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:41,233,308...41,399,032
Ensembl chr  X:41,236,246...41,398,999 		JBrowse link
G SPACA5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,476,719...42,478,783
Ensembl chr  X:42,476,587...42,478,921 		JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,797,309...42,811,457
Ensembl chr  X:42,797,828...42,811,461 		JBrowse link
G SYN1 synapsin I ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome OMIM
ClinVar		 PMID:9536098 PMID:14985377 PMID:15071120 PMID:16199547 PMID:17576681 More... NCBI chr  X:42,090,245...42,142,254
Ensembl chr  X:42,090,246...42,142,224 		JBrowse link
G SYP synaptophysin ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,232,190...43,246,764
Ensembl chr  X:43,232,192...43,246,680 		JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,682,267...42,696,579
Ensembl chr  X:42,682,269...42,696,574 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,100,375...43,116,377
Ensembl chr  X:43,100,032...43,116,227 		JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,970,586...42,976,287
Ensembl chr  X:42,970,108...42,975,955 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:41,810,726...41,832,818
Ensembl chr  X:41,814,101...41,832,812 		JBrowse link
G USP11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:41,851,534...41,866,357
Ensembl chr  X:41,851,602...41,866,355 		JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,553,454...43,557,247
Ensembl chr  X:43,555,005...43,556,321 		JBrowse link
G UXT ubiquitously expressed prefoldin like chaperone ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,176,142...42,184,131
Ensembl chr  X:42,176,145...42,184,079 		JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,774,597...42,793,055
Ensembl chr  X:42,774,588...42,793,055 		JBrowse link
G WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,715,097...42,730,200
Ensembl chr  X:42,722,730...42,730,199 		JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,477...43,156,234 		JBrowse link
G ZNF157 zinc finger protein 157 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:41,905,319...41,921,484
Ensembl chr  X:41,905,226...41,920,880 		JBrowse link
G ZNF182 zinc finger protein 182 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,444,227...42,473,308
Ensembl chr  X:42,444,230...42,473,285 		JBrowse link
G ZNF41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:14985377 PMID:21441247 PMID:28492532 NCBI chr  X:41,931,036...41,984,439
Ensembl chr  X:41,934,977...41,984,595 		JBrowse link
G ZNF630 zinc finger protein 630 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,518,203...42,540,677
Ensembl chr  X:42,518,211...42,540,232 		JBrowse link
G ZNF81 zinc finger protein 81 ISO ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome ClinVar PMID:28492532 NCBI chr  X:42,246,548...42,372,191
Ensembl chr  X:42,246,751...42,468,024 		JBrowse link
X-linked exudative vitreoretinopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDP norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 2, X-linked | ClinVar Annotator: match by term: Exudative vitreoretinopathy, X-linked OMIM
ClinVar		 PMID:95062 PMID:1307245 PMID:7558002 PMID:7795608 PMID:8252044 More... NCBI chr  X:39,208,115...39,235,879
Ensembl chr  X:39,208,119...39,235,758 		JBrowse link
X-Linked Hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Aqueductal stenosis, X-linked | ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, X-LINKED | ClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosis OMIM
ClinVar		 PMID:7562969 PMID:7920659 PMID:8929944 PMID:9643285 PMID:10469653 More... NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction ClinVar PMID:12650797 PMID:15368500 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
X-linked hyper IgM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,490,544...111,534,000 JBrowse link
G AICDA activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369 		JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,796,485...111,917,195
Ensembl chr  X:111,796,485...111,917,174 		JBrowse link
G BRS3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,615,695...111,620,124
Ensembl chr  X:111,615,564...111,620,124 		JBrowse link
G CD40 CD40 molecule ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		JBrowse link
G CD40LG CD40 ligand ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More... NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,309,989...111,367,900
Ensembl chr  X:111,356,011...111,367,903 		JBrowse link
G GPR101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:112,109,592...112,111,333
Ensembl chr  X:112,108,889...112,113,652 		JBrowse link
G HTATSF1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,624,303...111,643,566
Ensembl chr  X:111,624,631...111,643,323 		JBrowse link
G MAP7D3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,371,538...111,420,230 JBrowse link
G RBMX RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,965,859...111,974,544
Ensembl chr  X:111,962,633...111,974,472 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,176,461...111,233,108
Ensembl chr  X:111,176,495...111,233,099 		JBrowse link
G UNG uracil DNA glycosylase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr14:41,746,498...41,757,841
Ensembl chr14:41,746,502...41,757,807 		JBrowse link
G VGLL1 vestigial like family member 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,662,565...111,684,676
Ensembl chr  X:111,662,621...111,683,504 		JBrowse link
G ZIC3 Zic family member 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:112,592,951...112,605,087
Ensembl chr  X:112,593,301...112,604,814 		JBrowse link
X-Linked Hypogammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Hypogammaglobulinemia, X-linked ClinVar PMID:8758136 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573 		JBrowse link
X-linked ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Recessive X-linked ichthyosis ClinVar PMID:3007328 PMID:7208152 PMID:18413370 NCBI chr  X:4,540,846...4,623,831
NCBI chr  Y:3,287,635...3,369,286 		JBrowse link
G PUDP pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Recessive X-linked ichthyosis ClinVar PMID:3007328 PMID:7208152 PMID:18413370 PMID:31690835 NCBI chr  X:3,577,487...3,876,142
NCBI chr  Y:2,681,502...2,701,629 		JBrowse link
G STS steroid sulfatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Placental steroid sulfatase deficiency | ClinVar Annotator: match by term: Recessive X-linked ichthyosis OMIM
ClinVar		 PMID:1539590 PMID:2668275 PMID:3007328 PMID:3032454 PMID:7208152 More... NCBI chr  X:3,926,027...4,076,900
NCBI chr  Y:2,747,102...2,828,322 		JBrowse link
X-Linked immunodeficiency 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLR7 toll like receptor 7 ISO ClinVar Annotator: match by term: Immunodeficiency 74, COVID-19-related, X-linked OMIM
ClinVar		 PMID:32706371 NCBI chr  X:9,573,178...9,576,987 JBrowse link
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:24550228 PMID:28492532 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:28492532 NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:24550228 PMID:28492532 NCBI chr  X:61,962,383...61,969,011
Ensembl chr  X:61,962,412...61,970,152 		JBrowse link
G MAGT1 magnesium transporter 1 ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 More... NCBI chr  X:61,894,237...61,958,511
Ensembl chr  X:61,894,965...61,958,517 		JBrowse link
G PGK1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:28492532 NCBI chr  X:62,187,472...62,210,321
Ensembl chr  X:62,187,434...62,210,705 		JBrowse link
X-linked intellectual developmental disorder 108 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 ClinVar PMID:25741868 NCBI chr  X:46,011,386...46,094,978
Ensembl chr  X:46,011,388...46,094,817 		JBrowse link
G SLC9A7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 108 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30335141 NCBI chr  X:41,233,308...41,399,032
Ensembl chr  X:41,236,246...41,398,999 		JBrowse link
X-linked intellectual developmental disorder 109 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 109 OMIM
ClinVar		 PMID:18414213 PMID:21739600 PMID:22773736 PMID:23562910 PMID:25741868 More... NCBI chr  X:120,777,559...121,263,574
Ensembl chr  X:120,777,734...121,263,569 		JBrowse link
G SERPINA1 serpin family A member 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 ClinVar PMID:1608473 PMID:1889260 PMID:2339709 PMID:2575668 PMID:2696185 More... NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645 		JBrowse link
X-Linked Intellectual Developmental Disorder 110 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF13 fibroblast growth factor 13 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 110 OMIM
ClinVar		 PMID:34184986 NCBI chr  X:113,460,191...113,955,691
Ensembl chr  X:113,460,191...113,932,715 		JBrowse link
X-Linked Intellectual Developmental Disorder 112 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZMYM3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 112 | ClinVar Annotator: match by term: ZMYM3-related condition OMIM
ClinVar		 PMID:24721225 PMID:25741868 PMID:28492532 PMID:36586412 NCBI chr  X:57,261,923...57,279,427
Ensembl chr  X:57,261,924...57,278,495 		JBrowse link
X-Linked Intellectual Developmental Disorder 113 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSTF2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, x-linked 113 OMIM
ClinVar		 PMID:32816001 NCBI chr  X:82,508,739...82,540,861
Ensembl chr  X:82,508,736...82,540,863 		JBrowse link
X-Linked Intellectual Developmental Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR2 angiotensin II receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089445 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388 		JBrowse link
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807943 NCBI chr  X:50,159,912...50,578,020 JBrowse link
G ARX aristaless related homeobox ISO DNA:missense mutation:cds:p.L33P (human)
DNA:duplication:exon:c.428-451dup (human)		 RGD PMID:11971879 PMID:15850492 RGD:11565836 RGD:1599257 NCBI chr  X:21,067,631...21,079,850
Ensembl chr  X:21,067,621...21,079,723 		JBrowse link
G ATRX ATRX chromatin remodeler ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.T1621M (human)		 CTD
RGD		 PMID:12116232 PMID:19291773 RGD:11040586 NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165920 PMID:19377476 NCBI chr  X:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160 		JBrowse link
G DIPK2B divergent protein kinase domain 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21264219 NCBI chr  X:40,179,289...40,223,011
Ensembl chr  X:40,178,969...40,222,542 		JBrowse link
G DLG3 discs large MAGUK scaffold protein 3 ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)		 CTD
RGD		 PMID:15185169 RGD:1300392 NCBI chr  X:56,471,941...56,531,481
Ensembl chr  X:56,472,307...56,527,983 		JBrowse link
G EFHC2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Mental retardation, X-linked ClinVar PMID:17221867 PMID:25741868 NCBI chr  X:39,407,390...39,597,537
Ensembl chr  X:39,403,692...39,597,512 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11940089 NCBI chr  X:47,191,838...47,231,656
Ensembl chr  X:47,192,427...47,231,342 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO DNA:frameshift mutation:cds:p.S396PfsX15 (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:8826463 PMID:9668174 PMID:22002931 RGD:13208827 NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED | ClinVar Annotator: match by term: Mental retardation, X-linked ClinVar PMID:23000143 PMID:25740848 PMID:25741868 NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED ClinVar PMID:25741868 NCBI chr  X:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228 		JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18801879 NCBI chr  X:24,408,092...25,811,129
Ensembl chr  X:24,409,327...25,806,680 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20473311 NCBI chr  X:46,011,386...46,094,978
Ensembl chr  X:46,011,388...46,094,817 		JBrowse link
G MAOA monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503438 NCBI chr  X:38,930,452...39,006,220 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO DNA:missense mutations:cds:p.E137G, p.R167W (human) RGD PMID:11309367 RGD:1601320 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G MED12 mediator complex subunit 12 ISO DNA:duplication mutation:cds:c.5898dupC(p.S1967Qfs84)(human)
DNA:missense mutation:cds:2881C>T(p.R961W)(human)		 RGD PMID:17334363 PMID:24039113 RGD:12910947 RGD:12910952 NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
G OPHN1 oligophrenin 1 ISO DNA:frameshift mutation:exon:p.P199_V200insEFSLLMNGLKIFIKCL (human)
DNA:deletion:exon
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12805098 PMID:17941886 PMID:21796728 RGD:13207441 RGD:13207442 NCBI chr  X:54,056,504...54,617,045
Ensembl chr  X:54,055,092...54,616,959 		JBrowse link
G PCDH19 protocadherin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18469813 NCBI chr  X:82,031,365...82,153,159
Ensembl chr  X:82,036,199...82,151,652 		JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 PMID:15024694 NCBI chr  X:42,976,086...42,981,732
Ensembl chr  X:42,975,413...42,981,724 		JBrowse link
G PTCHD1 patched domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21091464 NCBI chr  X:19,508,501...19,563,298
Ensembl chr  X:19,507,739...19,561,828 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:20159109 NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18350323 NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED ClinVar PMID:25741868 NCBI chr  X:106,039,961...106,116,156
Ensembl chr  X:106,039,969...106,116,139 		JBrowse link
G SYP synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19377476 NCBI chr  X:43,232,190...43,246,764
Ensembl chr  X:43,232,192...43,246,680 		JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704778 NCBI chr  X:98,184,646...98,206,135
Ensembl chr  X:98,182,272...98,206,096 		JBrowse link
G ZNF41 zinc finger protein 41 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14628291 NCBI chr  X:41,931,036...41,984,439
Ensembl chr  X:41,934,977...41,984,595 		JBrowse link
G ZNF674 zinc finger protein 674 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16385466 NCBI chr  X:41,090,146...41,118,627 JBrowse link
G ZNF711 zinc finger protein 711 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19377476 NCBI chr  X:68,475,512...68,499,329
Ensembl chr  X:68,475,636...68,499,321 		JBrowse link
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome OMIM
ClinVar		 PMID:21630357 PMID:22814392 PMID:25741868 PMID:25741909 NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523 		JBrowse link
X-linked intellectual disability-psychosis-macroorchidism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:47,191,838...47,231,656
Ensembl chr  X:47,192,427...47,231,342 		JBrowse link
G MECP2 methyl-CpG binding protein 2 susceptibility ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: PPM-X syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome ClinVar
OMIM		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
X-linked intellectual disability-short stature-overweight syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIL1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome ClinVar PMID:19471582 PMID:22995991 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 2:140,884,170...141,118,201
Ensembl chr 2:140,878,070...141,118,059 		JBrowse link
G THOC2 THO complex subunit 2 ISO ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome OMIM
ClinVar		 PMID:1605217 PMID:8825049 PMID:25741868 PMID:26166480 PMID:28492532 NCBI chr  X:101,170,969...101,284,623
Ensembl chr  X:101,171,362...101,284,551 		JBrowse link
X-linked juvenile retinoschisis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Retinoschisis juvenile X chromosome-linked | ClinVar Annotator: match by term: X-Linked Juvenile Retinoschisis ClinVar PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Retinoschisis juvenile X chromosome-linked | ClinVar Annotator: match by term: X-Linked Juvenile Retinoschisis OMIM
ClinVar		 PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243 		JBrowse link
X-linked keratosis follicularis spinulosa decalvans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked OMIM
ClinVar		 PMID:8745901 PMID:20672378 PMID:23316014 PMID:25741868 NCBI chr  X:18,013,360...18,054,250 JBrowse link
X-linked lissencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO ClinVar Annotator: match by term: Lissencephaly type 1 due to doublecortin gene mutation OMIM
ClinVar		 PMID:9489699 PMID:9489700 PMID:9618162 PMID:10369164 PMID:10749977 More... NCBI chr  X:91,317,671...91,644,572
Ensembl chr  X:91,323,764...91,644,567 		JBrowse link
X-linked lissencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARX aristaless related homeobox ISO ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia OMIM
ClinVar		 PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... NCBI chr  X:21,067,631...21,079,850
Ensembl chr  X:21,067,621...21,079,723 		JBrowse link
X-linked lymphoproliferative syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked ClinVar PMID:25741868 NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981 		JBrowse link
G SH2D1A SH2 domain containing 1A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked | ClinVar Annotator: match by term: SH2D1A-related condition OMIM
ClinVar		 PMID:3374620 PMID:3658675 PMID:9536098 PMID:9771704 PMID:9811875 More... NCBI chr  X:101,824,602...101,847,265
Ensembl chr  X:101,824,367...101,849,671 		JBrowse link
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked ClinVar PMID:25741868 NCBI chr 4:93,282,383...93,293,214
Ensembl chr 4:93,282,413...93,293,205 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:101,399,374...101,440,021
Ensembl chr  X:101,399,812...101,440,013 		JBrowse link
X-linked lymphoproliferative syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked ClinVar PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 More... NCBI chr  X:100,827,293...101,109,213
Ensembl chr  X:100,827,461...101,109,207 		JBrowse link
G SH2D1A SH2 domain containing 1A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked ClinVar PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 More... NCBI chr  X:101,824,602...101,847,265
Ensembl chr  X:101,824,367...101,849,671 		JBrowse link
G STAG2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked ClinVar PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 More... NCBI chr  X:101,476,117...101,617,405
Ensembl chr  X:101,478,247...101,617,563 		JBrowse link
G THOC2 THO complex subunit 2 ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked ClinVar PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 More... NCBI chr  X:101,170,969...101,284,623
Ensembl chr  X:101,171,362...101,284,551 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked OMIM
ClinVar		 PMID:1543760 PMID:9536098 PMID:16199547 PMID:17080092 PMID:17576681 More... NCBI chr  X:101,399,374...101,440,021
Ensembl chr  X:101,399,812...101,440,013 		JBrowse link
X-linked mental retardation Gustavson type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBMX RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked OMIM
ClinVar		 PMID:25741905 NCBI chr  X:111,965,859...111,974,544
Ensembl chr  X:111,962,633...111,974,472 		JBrowse link
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPHN1 oligophrenin 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 60 | ClinVar Annotator: match by term: OPHN1-related condition OMIM
ClinVar		 PMID:9582072 PMID:10818214 PMID:12807966 PMID:16199547 PMID:16221952 More... NCBI chr  X:54,056,504...54,617,045
Ensembl chr  X:54,055,092...54,616,959 		JBrowse link
X-Linked Mental Retardation with Isolated Growth Hormone Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX3 SRY-box transcription factor 3 ISO DNA:duplication:cds:c.712_744dup (human) RGD PMID:12428212 RGD:11535974 NCBI chr  X:115,017,704...115,020,601
Ensembl chr  X:115,019,232...115,020,578 		JBrowse link
X-linked mental retardation-hypotonic facies syndrome-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked | ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome X-linked, 1 | ClinVar Annotator: match by term: Smith Fineman Myers syndrome 1 OMIM
ClinVar		 PMID:3239563 PMID:6682021 PMID:6711605 PMID:7697714 PMID:8630485 More... NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287 		JBrowse link
G EPOR erythropoietin receptor ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome ClinVar PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome ClinVar PMID:25741868 NCBI chr  X:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228 		JBrowse link
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Olmsted syndrome, X-linked OMIM
ClinVar		 PMID:17367233 PMID:22931912 PMID:25741868 PMID:28492532 NCBI chr  X:18,013,360...18,054,250 JBrowse link
X-linked myopathy with excessive autophagy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD99L2 CD99 molecule like 2 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,456,668...122,535,989
Ensembl chr  X:122,456,676...122,535,870 		JBrowse link
G GPR50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,708,551...122,713,163
Ensembl chr  X:122,708,427...122,714,164 		JBrowse link
G HMGB3 high mobility group box 3 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,591,413...122,599,496
Ensembl chr  X:122,592,936...122,599,493 		JBrowse link
G MAMLD1 mastermind like domain containing 1 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,120,275...122,233,692
Ensembl chr  X:122,120,300...122,234,472 		JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,286,904...122,379,302
Ensembl chr  X:122,286,916...122,379,299 		JBrowse link
G MTMR1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,394,768...122,455,266
Ensembl chr  X:122,394,921...122,453,905 		JBrowse link
G VMA21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy OMIM
ClinVar		 PMID:9305655 PMID:9536098 PMID:10063835 PMID:10449925 PMID:15725586 More... NCBI chr  X:122,872,141...122,882,976 JBrowse link
X-linked nephrogenic diabetes insipidus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP2 aquaporin 2 ISO ClinVar Annotator: match by term: Diabetes insipidus nephrogenic X-linked ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:15,862,739...15,868,565
Ensembl chr 5:15,863,486...15,868,565 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: AVPR2-related condition | ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, X-linked OMIM
ClinVar		 PMID:1303257 PMID:1303271 PMID:1356229 PMID:4886456 PMID:5309332 More... NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
X-linked nephrolithiasis type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1 | ClinVar Annotator: match by term: X-linked recessive nephrolithiasis with renal failure OMIM
ClinVar		 PMID:7915957 PMID:8559248 PMID:9187673 PMID:9602200 PMID:9734595 More... NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,628...43,811,526 		JBrowse link
X-linked nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMPX small muscle protein X-linked ISO ClinVar Annotator: match by term: X-linked deafness ClinVar NCBI chr  X:17,889,030...17,938,206
Ensembl chr  X:17,889,030...17,938,293 		JBrowse link
X-linked panhypopituitarism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: PITUITARY DWARFISM IV | ClinVar Annotator: match by term: Panhypopituitarism, X-linked OMIM
ClinVar		 PMID:15800844 PMID:21289259 PMID:25741868 PMID:28492532 NCBI chr  X:115,017,704...115,020,601
Ensembl chr  X:115,019,232...115,020,578 		JBrowse link
X-linked parkinsonism-spasticity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6AP2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Parkinsonism with spasticity, X-linked | ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome OMIM
ClinVar		 PMID:20629132 PMID:23595882 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:36,271,154...36,300,240
Ensembl chr  X:36,271,222...36,304,181 		JBrowse link
X-linked properdin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFP complement factor properdin ISO ClinVar Annotator: match by term: CFP-related condition | ClinVar Annotator: match by term: Properdin deficiency, X-linked | ClinVar Annotator: match by term: Properdin deficiency, type II | ClinVar Annotator: match by term: Properdin deficiency, type III OMIM
ClinVar		 PMID:3380115 PMID:7151327 PMID:8530058 PMID:8871668 PMID:10909851 More... NCBI chr  X:42,145,754...42,152,879
Ensembl chr  X:42,143,697...42,152,868 		JBrowse link
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive OMIM
ClinVar		 PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:11136179 More... NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,628...43,811,526 		JBrowse link
X-linked reticulate pigmentary disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLA1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: POLA1-related condition | ClinVar Annotator: match by term: X-linked reticulate pigmentary disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27019227 PMID:28492532 NCBI chr  X:20,756,674...21,064,265
Ensembl chr  X:20,756,725...21,062,175 		JBrowse link
X-linked retinitis pigmentosa and sinorespiratory infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness OMIM
ClinVar		 PMID:1733835 PMID:8673101 PMID:10094550 PMID:14627685 PMID:16055928 More... NCBI chr  X:34,238,961...34,522,814
Ensembl chr  X:34,228,124...34,296,589 		JBrowse link
X-linked severe combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:57,241,990...57,249,496
Ensembl chr  X:57,242,045...57,249,885 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency OMIM
ClinVar		 PMID:2169613 PMID:2984567 PMID:7557965 PMID:7632950 PMID:7668284 More... NCBI chr  X:57,143,568...57,151,242
Ensembl chr  X:57,143,570...57,147,256 		JBrowse link
G ITGB1BP2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:57,316,490...57,321,614
Ensembl chr  X:57,316,471...57,325,096 		JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
G NLGN3 neuroligin 3 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:57,174,506...57,204,770
Ensembl chr  X:57,176,103...57,201,461 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:57,382,211...57,466,700
Ensembl chr  X:57,382,354...57,466,697 		JBrowse link
G ZMYM3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chr  X:57,261,923...57,279,427
Ensembl chr  X:57,261,924...57,278,495 		JBrowse link
X-linked severe congenital neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,885,584...43,895,142
Ensembl chr  X:43,885,394...43,895,981 		JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,078,202...42,090,250
Ensembl chr  X:42,078,206...42,090,250 		JBrowse link
G BMP15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:44,613,122...44,620,575
Ensembl chr  X:44,613,122...44,620,575 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,250,449...43,284,458
Ensembl chr  X:43,251,370...43,283,990 		JBrowse link
G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,128,938...43,146,777
Ensembl chr  X:43,134,275...43,146,775 		JBrowse link
G CCDC22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,285,232...43,303,865
Ensembl chr  X:43,285,246...43,303,864 		JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,922,729...43,988,939
Ensembl chr  X:43,922,804...43,990,929 		JBrowse link
G CDK16 cyclin dependent kinase 16 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,836,268...41,848,580
Ensembl chr  X:41,835,987...41,848,574 		JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,145,754...42,152,879
Ensembl chr  X:42,143,697...42,152,868 		JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,157,980...42,174,964
Ensembl chr  X:42,157,988...42,174,951 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,628...43,811,526 		JBrowse link
G DGKK diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:44,001,172...44,180,142
Ensembl chr  X:44,001,176...44,180,179 		JBrowse link
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,670,592...42,678,571
Ensembl chr  X:42,670,633...42,678,570 		JBrowse link
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:24033266 NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027 		JBrowse link
G ERAS ES cell expressed Ras ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,942,033...42,946,715
Ensembl chr  X:42,941,664...42,946,524 		JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,609,560...42,620,198
Ensembl chr  X:42,609,771...42,620,284 		JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976 		JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,877,034...42,889,285
Ensembl chr  X:42,877,140...42,889,271 		JBrowse link
G GPKOW G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,177,264...43,192,021
Ensembl chr  X:43,177,272...43,191,830 		JBrowse link
G GRIPAP1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,043,613...43,070,363
Ensembl chr  X:43,043,029...43,070,364 		JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887 		JBrowse link
G JADE3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,579,565...41,714,705
Ensembl chr  X:41,579,764...41,714,706 		JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,032,355...43,043,310
Ensembl chr  X:43,032,358...43,041,760 		JBrowse link
G LOC100513450 P antigen family member 4 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,489,559...43,496,654
Ensembl chr  X:43,446,109...43,494,094 		JBrowse link
G MAGIX MAGI family member, X-linked ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,206,680...43,212,889
Ensembl chr  X:43,207,062...43,211,635 		JBrowse link
G MIR532 microRNA mir-532 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,705,258...43,705,337
Ensembl chr  X:43,705,258...43,705,337 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,770,929...41,773,879
Ensembl chr  X:41,770,941...41,774,245 		JBrowse link
G NUDT11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:44,912,160...44,918,977 JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,001,491...43,029,471
Ensembl chr  X:43,000,231...43,029,468 		JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,947,688...42,952,222
Ensembl chr  X:42,947,692...42,949,024 		JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,993,547...42,998,575
Ensembl chr  X:42,993,551...42,998,573 		JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,215,372...43,218,318
Ensembl chr  X:43,215,283...43,218,316 		JBrowse link
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,653,696...42,669,526
Ensembl chr  X:42,653,789...42,669,517 		JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,328,199...43,344,503
Ensembl chr  X:43,328,274...43,344,013 		JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,976,086...42,981,732
Ensembl chr  X:42,975,413...42,981,724 		JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,147,473...43,150,350 JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,218,271...43,230,368
Ensembl chr  X:43,218,277...43,230,367 		JBrowse link
G RBM10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,773,232...41,803,656
Ensembl chr  X:41,773,232...41,803,653 		JBrowse link
G RBM3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,704,019...42,707,587
Ensembl chr  X:42,704,028...42,707,577 		JBrowse link
G RGN regucalcin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,725,660...41,749,736
Ensembl chr  X:41,726,526...41,749,381 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,488,866...41,534,810
Ensembl chr  X:41,488,626...41,534,799 		JBrowse link
G SHROOM4 shroom family member 4 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:44,301,956...44,543,969
Ensembl chr  X:44,332,620...44,543,337 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,981,801...42,992,091
Ensembl chr  X:42,981,802...42,992,081 		JBrowse link
G SLC38A5 solute carrier family 38 member 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,590,608...42,601,537
Ensembl chr  X:42,590,607...42,601,502 		JBrowse link
G SLC9A7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,233,308...41,399,032
Ensembl chr  X:41,236,246...41,398,999 		JBrowse link
G SPACA5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,476,719...42,478,783
Ensembl chr  X:42,476,587...42,478,921 		JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,797,309...42,811,457
Ensembl chr  X:42,797,828...42,811,461 		JBrowse link
G SYN1 synapsin I ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,090,245...42,142,254
Ensembl chr  X:42,090,246...42,142,224 		JBrowse link
G SYP synaptophysin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,232,190...43,246,764
Ensembl chr  X:43,232,192...43,246,680 		JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,682,267...42,696,579
Ensembl chr  X:42,682,269...42,696,574 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,100,375...43,116,377
Ensembl chr  X:43,100,032...43,116,227 		JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,970,586...42,976,287
Ensembl chr  X:42,970,108...42,975,955 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,810,726...41,832,818
Ensembl chr  X:41,814,101...41,832,812 		JBrowse link
G USP11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,851,534...41,866,357
Ensembl chr  X:41,851,602...41,866,355 		JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,553,454...43,557,247
Ensembl chr  X:43,555,005...43,556,321 		JBrowse link
G UXT ubiquitously expressed prefoldin like chaperone ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,176,142...42,184,131
Ensembl chr  X:42,176,145...42,184,079 		JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia OMIM
ClinVar		 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7753869 PMID:7795648 More... NCBI chr  X:42,774,597...42,793,055
Ensembl chr  X:42,774,588...42,793,055 		JBrowse link
G WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,715,097...42,730,200
Ensembl chr  X:42,722,730...42,730,199 		JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,477...43,156,234 		JBrowse link
G ZNF157 zinc finger protein 157 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,905,319...41,921,484
Ensembl chr  X:41,905,226...41,920,880 		JBrowse link
G ZNF182 zinc finger protein 182 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,444,227...42,473,308
Ensembl chr  X:42,444,230...42,473,285 		JBrowse link
G ZNF41 zinc finger protein 41 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,931,036...41,984,439
Ensembl chr  X:41,934,977...41,984,595 		JBrowse link
G ZNF630 zinc finger protein 630 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,518,203...42,540,677
Ensembl chr  X:42,518,211...42,540,232 		JBrowse link
G ZNF81 zinc finger protein 81 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,246,548...42,372,191
Ensembl chr  X:42,246,751...42,468,024 		JBrowse link
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 susceptibility ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
DNA:missense mutation: :p.I400M (human)		 OMIM
ClinVar
RGD		 PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11843825 More... RGD:1598600 NCBI chr  X:60,186,559...60,313,098
Ensembl chr  X:60,186,814...60,313,064 		JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar NCBI chr  X:47,871,519...47,896,041
Ensembl chr  X:47,871,523...47,896,000 		JBrowse link
G PAGE2B PAGE family member 2B ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar NCBI chr  X:47,916,076...47,919,904
Ensembl chr  X:47,916,069...47,919,898 		JBrowse link
X-linked spermatogenic failure 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TEX11 testis expressed 11 ISO ClinVar Annotator: match by term: MALE INFERTILITY FROM DEFECT IN MEIOSIS | ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 OMIM
ClinVar		 PMID:25741868 PMID:25970010 PMID:28492532 NCBI chr  X:56,543,933...56,925,104
Ensembl chr  X:56,544,560...56,925,779 		JBrowse link
X-linked spermatogenic failure 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 3 OMIM
ClinVar		 PMID:25741868 PMID:33472045 NCBI chr  X:31,879,143...32,331,543 JBrowse link
X-Linked Spermatogenic Failure 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCNA germ cell nuclear acidic peptidase ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 4 OMIM
ClinVar		 PMID:25741868 PMID:33963445 PMID:34413498 PMID:35172124 NCBI chr  X:57,580,582...57,588,938 JBrowse link
X-Linked Spermatogenic Failure 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USP26 ubiquitin specific peptidase 26 ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 6 OMIM
ClinVar		 PMID:34202084 NCBI chr  X:109,092,622...109,095,548 JBrowse link
X-Linked Spermatogenic Failure 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CT55 cancer/testis antigen 55 ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 7 OMIM
ClinVar		 PMID:36481789 NCBI chr  X:110,848,227...110,890,277 JBrowse link
X-linked spinal muscular atrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBA1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: AMC, distal, X-linked | ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy | ClinVar Annotator: match by term: Spinal Muscular Atrophy, X-Linked Infantile | ClinVar Annotator: match by term: Spinal muscular atrophy, X-linked 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18179898 PMID:20301739 More... NCBI chr  X:41,810,726...41,832,818
Ensembl chr  X:41,814,101...41,832,812 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:23623388 NCBI chr  X:51,157,102...51,193,993
Ensembl chr  X:51,157,105...51,193,980 		JBrowse link
X-linked spinocerebellar ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:60,186,559...60,313,098
Ensembl chr  X:60,186,814...60,313,064 		JBrowse link
G AMER1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chr  X:50,842,049...50,864,105
Ensembl chr  X:50,844,683...50,864,032 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia OMIM
ClinVar		 PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:25741913 More... NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
G NHSL2 NHS like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:57,741,172...58,028,266
Ensembl chr  X:57,742,114...58,030,951 		JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chr  X:58,456,097...58,583,216
Ensembl chr  X:58,455,939...58,583,216 		JBrowse link
G RTL9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:90,553,099...90,565,001
Ensembl chr  X:90,559,021...90,565,035 		JBrowse link
X-linked spondyloepimetaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia ClinVar PMID:7825602 PMID:7849723 PMID:8040304 PMID:8651290 PMID:9088111 More... NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia OMIM
ClinVar		 PMID:8064814 PMID:25741868 PMID:27236923 PMID:28492532 NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy OMIM
ClinVar		 PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy ClinVar PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chr  X:106,708,402...106,723,803
Ensembl chr  X:106,712,398...106,723,404 		JBrowse link
X-linked spondyloepiphyseal dysplasia tarda term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: SED TARDA, X-LINKED | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked ClinVar PMID:9536098 PMID:11326333 PMID:11349230 PMID:15221797 PMID:17576681 More... NCBI chr  X:10,361,403...10,415,502 JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 ISO ClinVar Annotator: match by term: SED TARDA, X-LINKED | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked OMIM
ClinVar		 PMID:9536098 PMID:11326333 PMID:11349230 PMID:15221797 PMID:17576681 More... NCBI chr  X:10,353,417...10,366,095
Ensembl chr  X:10,353,419...10,366,106 		JBrowse link
X-linked thrombocytopenia with beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis OMIM
ClinVar		 PMID:871527 PMID:12200364 PMID:14691578 PMID:16783379 PMID:17148589 More... NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976 		JBrowse link
X-Linked Thrombocytopenia, Intermittent term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Thrombocytopenia, X-linked, intermittent ClinVar PMID:11877312 NCBI chr  X:42,774,597...42,793,055
Ensembl chr  X:42,774,588...42,793,055 		JBrowse link
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, without dyserythropoietic anemia OMIM
ClinVar		 PMID:871527 PMID:3164080 PMID:10700180 PMID:11418466 PMID:11809723 More... NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976 		JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO DNA:missense mutation:multiple (human) RGD PMID:28942350 RGD:151232291 NCBI chr  X:12,336,635...12,365,071
Ensembl chr  X:12,336,677...12,367,227 		JBrowse link
X-linked thrombophilia due to factor IX defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F9 coagulation factor IX ISO ClinVar Annotator: match by term: Thrombophilia, X-linked, due to factor IX defect OMIM
ClinVar		 PMID:734633 PMID:1346077 PMID:1346975 PMID:1615486 PMID:1680287 More... NCBI chr  X:114,218,704...114,250,436
Ensembl chr  X:114,218,707...114,250,429 		JBrowse link
X-Linked Thrombophilia due to Factor VIII Defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT OMIM
ClinVar		 PMID:1301932 PMID:1412186 PMID:1908096 PMID:1924291 PMID:2121641 More... NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAZ1A bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr 7:64,969,626...65,069,969
Ensembl chr 7:64,969,640...65,069,889 		JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chr  X:11,386,360...11,408,958
Ensembl chr  X:11,384,912...11,409,057 		JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus ClinVar PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More... NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly ClinVar PMID:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 More... NCBI chr14:99,929,590...100,021,619 JBrowse link
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr 6:33,731,666...33,748,698
Ensembl chr 6:33,732,025...33,748,704 		JBrowse link
G ZIC3 Zic family member 3 ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus OMIM
ClinVar		 PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:112,592,951...112,605,087
Ensembl chr  X:112,593,301...112,604,814 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            X-linked monogenic disease 1315
              46,XY sex reversal 2 1
              AMME complex 0
              Abruzzo-Erickson syndrome 1
              Achromatopsia Incomplete, X-Linked 0
              Aicardi syndrome 1
              Alzheimer's disease 16 0
              Anencephaly and Spina Bifida X-Linked 0
              Arthrogryposis, X-Linked, Type V 0
              Bornholm Eye Disease 0
              Branchial Arch Syndrome X-Linked 0
              Bresheck/Bresek Syndrome 0
              Bullous Dystrophy, Hereditary Macular Type 0
              CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED 1
              Choroideremia + 2
              Chromosome Xq28 Duplication Syndrome 0
              Cleft Palate with Ankyloglossia 1
              Congenital Adrenal Hypoplasia with Precocious Puberty 0
              Congenital Alopecia X-Linked 0
              Congenital Heart Defects, X-Linked + 12
              Congenital Ptosis, Hereditary 2 0
              Craniofacioskeletal Syndrome 0
              Dilated Cardiomyopathy 3A 0
              Epidermodysplasia Verruciformis, X-Linked 0
              Episodic Muscle Weakness, X-Linked 0
              External Ophthalmoplegia and Myopia 0
              Fabry disease + 15
              High-Frequency Deafness, Sensorineural, X-Linked 0
              Hodgkin Disease, X-Linked Pseudoautosomal 0
              Hydrocephalus with Cerebellar Agenesis 0
              Hypertrichosis Congenital Generalized X-Linked 0
              Hypospadias 1, X-Linked 1
              Hypospadias 2, X-Linked 1
              Isolated Noncompaction of the Ventricular Myocardium + 102
              Leigh Syndrome, X-Linked 3
              McLeod syndrome 1
              Meester-Loeys syndrome 2
              Melnick-Needles syndrome 10
              Membranoproliferative Glomerulonephritis, X-Linked 0
              Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 0
              Microcephaly Microcornea Syndrome Seemanova Type 0
              Microphthalmia/Coloboma 1 0
              Midline Defects, X-Linked 0
              Multiple Pterygium Syndrome, X-Linked 0
              Myopia 1 0
              Myopia 13 0
              Myopia 26, X-Linked, Female-Limited 1
              NEMO Mutation with Immunodeficiency 0
              Neural Tube Defects X-Linked 0
              Nystagmus 5, Infantile Periodic Alternating 0
              Ogden syndrome 1
              Parkinson's Disease 12 0
              Partial Agenesis of Corpus Callosum, X-Linked 1
              Periventricular Nodular Heterotopia 4 10
              Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 0
              Progressive Muscular Dystrophy, Pectorodorsal 0
              Prostate Cancer, Hereditary, X-Linked 1 0
              Prostate Cancer, Hereditary, X-Linked 2 0
              Pulmonary Surfactant Metabolism Dysfunction 4 1
              ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED 15
              Radial Ray Deficiency, X-Linked 0
              Radiation Sensitivity of Natural Killer Activity 0
              Radius Absent Anogenital Anomalies 0
              Reticuloendotheliosis, X-Linked 0
              Russell-Silver Syndrome, X-Linked 0
              Selective Tooth Agenesis, X-Linked, 1 1
              Sketetal Dysplasia Coarse Facies Mental Retardation 2
              Spina Bifida, X-Linked 0
              Spondylometaphyseal Dysplasia, X-Linked 0
              Systemic Autoinflammatory Disease, X-Linked 1
              TARP syndrome 1
              Testicular Germ Cell Tumor 1 0
              Thrombocythemia, X-Linked 0
              Thrombocytopenia 1 2
              Thyroxine-Binding Globulin Deficiency + 1
              Torticollis Keloids Cryptorchidism Renal Dysplasia 0
              VEXAS syndrome 1
              Vasquez Hurst Sotos Syndrome 0
              Von Willebrand Disease, X-Linked Form 0
              X Inactivation, Familial Skewed, 1 0
              X Inactivation, Familial Skewed, 2 0
              X-Linked Anemia without Thrombocytopenia 0
              X-Linked Cone Dystrophy with Tapetal-like Sheen 0
              X-Linked Hydrocephalus + 1
              X-Linked Hypogammaglobulinemia 1
              X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 0
              X-Linked Intellectual Developmental Disorders + 792
              X-Linked Macular Dystrophy + 1
              X-Linked Modifier for Neurofunctional Defects 0
              X-Linked Spermatogenic Failure 4 1
              X-Linked Spermatogenic Failure 5 0
              X-Linked Spermatogenic Failure 6 1
              X-Linked Spermatogenic Failure 7 1
              X-Linked Tetra-Amelia 0
              X-Linked Thrombocytopenia, Intermittent 1
              X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 2
              X-Linked Thrombophilia due to Factor VIII Defect 1
              X-Linked Vesicoureteral Reflux 0
              X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features 3
              X-linked cardiac valvular dysplasia 1
              X-linked central diabetes insipidus 0
              X-linked cleft palate with or without ankyloglossia 1
              X-linked cone-rod dystrophy 1 2
              X-linked cone-rod dystrophy 2 0
              X-linked congenital myopathy with fiber-type disproportion 0
              X-linked dilated cardiomyopathy + 6
              X-linked dominant disease + 232
              X-linked epilepsy with variable learning disabilities and behavior disorders 64
              X-linked exudative vitreoretinopathy 2 1
              X-linked hereditary ataxia + 9
              X-linked hypoparathyroidism 0
              X-linked nonsyndromic deafness + 9
              X-linked panhypopituitarism + 1
              X-linked recessive disease + 569
              X-linked reticulate pigmentary disorder 1
              X-linked retinitis pigmentosa and sinorespiratory infections 1
              X-linked thrombophilia due to factor IX defect 1
              alpha-thalassemia myelodysplasia syndrome 1
              androgen insensitivity syndrome + 4
              angioma serpiginosum + 0
              cataract 40 1
              combined T cell and B cell immunodeficiency + 324
              congenital bilateral absence of vas deferens + 2
              congenital hypogammaglobulinemia 0
              congenital nystagmus 1 1
              corpus callosum agenesis-abnormal genitalia syndrome 1
              developmental and epileptic encephalopathy 90 1
              favism 63
              fetal akinesia deformation sequence syndrome X-linked 0
              intracranial berry aneurysm 5 0
              optic atrophy 2 1
              ornithine carbamoyltransferase deficiency 30
              ovarian dysgenesis 2 + 1
              primary ovarian insufficiency 1 3
              reducing body myopathy 1B 1
              retinitis pigmentosa 2 1
              retinitis pigmentosa 24 0
              retinitis pigmentosa 3 17
              retinitis pigmentosa 34 0
              retinitis pigmentosa 6 1
              split hand-foot malformation 2 0
              syndromic microphthalmia 13 1
              terminal osseous dysplasia 1
paths to the root