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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 recessive disease
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Accession:DOID:0080012 term browser browse the term
Definition:A X-linked monogenic disease that has_material_basis_in recessive inheritance. (DO)
Synonyms:exact_synonym: X-linked recessive inheritance


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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 chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chrNW_004955450:703,874...744,782
Ensembl chrNW_004955450:701,517...745,126
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 chrNW_004955580:586,986...600,299 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 chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471
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 chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
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 chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168
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 chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663
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 chrNW_004955594:551,407...613,772
Ensembl chrNW_004955594:554,081...613,661
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 chrNW_004955580:336,681...349,435
Ensembl chrNW_004955580:336,681...349,435
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 chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389
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 chrNW_004955594:618,516...624,780
Ensembl chrNW_004955594:618,516...624,780
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 chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510
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 chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243
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 chrNW_004955580:388,277...392,269
Ensembl chrNW_004955580:388,850...391,455
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 chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904
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 chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
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 chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849
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 chrNW_004955580:941,620...947,763 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 chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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 chrNW_004955594:627,839...656,241
Ensembl chrNW_004955594:625,701...656,400
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 chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
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 chrNW_004955594:882,921...955,079
Ensembl chrNW_004955594:912,108...956,037
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 chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081
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 chrNW_004955580:210,799...230,450
Ensembl chrNW_004955580:210,820...230,734
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 chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
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 chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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 chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802
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 chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622
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 chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
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 chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617
JBrowse link
G LOC102021406 histone H2A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955593:911,641...911,919 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 chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288
JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004955412:5,965,388...5,976,353
Ensembl chrNW_004955412:5,965,394...5,976,382
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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 chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866
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 chrNW_004955594:614,422...620,142
Ensembl chrNW_004955594:614,422...620,142
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 chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608
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 chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
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 chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chrNW_004955424:22,799,568...22,830,718
Ensembl chrNW_004955424:22,799,568...22,830,718
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chrNW_004955454:6,097,251...6,115,430 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 chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772
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 chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445
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 chrNW_004955580:401,411...406,663
Ensembl chrNW_004955580:401,297...405,065
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 chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009
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 chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
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 chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439
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 chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673
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 chrNW_004955580:419,696...426,727 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 chrNW_004955594:803,406...816,735 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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 chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709
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 chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498
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 chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791
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 chrNW_004955580:781,339...791,284 JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
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 chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470
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 chrNW_004955594:272,668...329,997
Ensembl chrNW_004955594:272,646...331,757
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 chrNW_004955580:207,903...209,426
Ensembl chrNW_004955580:207,903...209,426
JBrowse link
G Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368
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 chrNW_004955594:450,048...477,504
Ensembl chrNW_004955594:447,750...477,796
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 chrNW_004955580:185,250...197,329
Ensembl chrNW_004955580:190,538...193,967
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 chrNW_004955498:8,185,997...8,248,910
Ensembl chrNW_004955498:8,185,994...8,253,209
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 chrNW_004955422:18,023,639...18,028,845
Ensembl chrNW_004955422:18,023,639...18,028,845
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 chrNW_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532 PMID:30718709 NCBI chrNW_004955419:13,116,001...13,207,266
Ensembl chrNW_004955419:13,116,001...13,207,266
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 chrNW_004955562:305,850...455,764
Ensembl chrNW_004955562:306,051...458,889
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 chrNW_004955473:4,934,770...4,986,283
Ensembl chrNW_004955473:4,942,385...4,986,433
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 chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
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 chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
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 chrNW_004955580:586,986...600,299 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 chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471
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 chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734
JBrowse link
G Avpr2 arginine 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 chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
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 chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168
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 chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663
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 chrNW_004955594:551,407...613,772
Ensembl chrNW_004955594:554,081...613,661
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 chrNW_004955580:336,681...349,435
Ensembl chrNW_004955580:336,681...349,435
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 chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389
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 chrNW_004955594:618,516...624,780
Ensembl chrNW_004955594:618,516...624,780
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 chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510
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 chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243
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 chrNW_004955580:388,277...392,269
Ensembl chrNW_004955580:388,850...391,455
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 chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904
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 chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
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 chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849
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 chrNW_004955580:941,620...947,763 JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISO OMIM:302060 MouseDO NCBI chrNW_004955596:580,106...606,210
Ensembl chrNW_004955596:580,106...603,255
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 chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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 chrNW_004955594:627,839...656,241
Ensembl chrNW_004955594:625,701...656,400
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 chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
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 chrNW_004955594:882,921...955,079
Ensembl chrNW_004955594:912,108...956,037
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 chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081
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 chrNW_004955580:210,799...230,450
Ensembl chrNW_004955580:210,820...230,734
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 chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597
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 chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608
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 chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802
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 chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622
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 chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
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 chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617
JBrowse link
G LOC102021406 histone H2A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955593:911,641...911,919 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 chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288
JBrowse link
G Mest mesoderm specific transcript ISO OMIM:302060 MouseDO NCBI chrNW_004955479:11,116,705...11,135,061
Ensembl chrNW_004955479:11,122,007...11,135,061
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 chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866
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 chrNW_004955594:614,422...620,142
Ensembl chrNW_004955594:614,422...620,142
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 chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608
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 chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
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 chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917
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 chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772
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 chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445
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 chrNW_004955580:401,411...406,663
Ensembl chrNW_004955580:401,297...405,065
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 chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009
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 chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
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 chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439
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 chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673
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 chrNW_004955580:419,696...426,727 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 chrNW_004955594:803,406...816,735 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 chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709
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 chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498
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 chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791
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 chrNW_004955580:781,339...791,284 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 chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470
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 chrNW_004955594:272,668...329,997
Ensembl chrNW_004955594:272,646...331,757
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 chrNW_004955580:207,903...209,426
Ensembl chrNW_004955580:207,903...209,426
JBrowse link
G Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368
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 chrNW_004955594:450,048...477,504
Ensembl chrNW_004955594:447,750...477,796
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 chrNW_004955580:185,250...197,329
Ensembl chrNW_004955580:190,538...193,967
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 chrNW_004955498:8,185,997...8,248,910
Ensembl chrNW_004955498:8,185,994...8,253,209
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 deficiency, epilepsy and endocrine disorders OMIM
ClinVar
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 More... NCBI chrNW_004955473:527,005...586,589
Ensembl chrNW_004955473:527,005...586,627
JBrowse link
Brunner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maoa amine oxidase [flavin-containing] 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 chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
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 chrNW_004955516:4,328,286...4,473,419
Ensembl chrNW_004955516:4,328,476...4,472,593
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 chrNW_004955516:4,218,703...4,244,774
Ensembl chrNW_004955516:4,218,703...4,244,846
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 OMIM
ClinVar
RGD
PMID:21841160 PMID:25741868 RGD:5490298 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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 chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428
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 chrNW_004955473:4,875,230...4,891,898
Ensembl chrNW_004955473:4,875,202...4,887,177
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 chrNW_004955490:8,303,775...8,330,713
Ensembl chrNW_004955490:8,303,775...8,330,713
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 OMIM
ClinVar
PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532 NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
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 chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428
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 chrNW_004955473:4,875,230...4,891,898
Ensembl chrNW_004955473:4,875,202...4,887,177
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 chrNW_004955557:1,294,408...1,336,164
Ensembl chrNW_004955557:1,290,615...1,336,198
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 chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709
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 chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498
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 chrNW_004955490:7,135,969...7,139,802
Ensembl chrNW_004955490:7,135,969...7,139,802
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 chrNW_004955565:1,258,724...1,262,283 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 chrNW_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364
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 chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352
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 chrNW_004955473:5,429,084...5,482,377
Ensembl chrNW_004955473:5,431,395...5,482,385
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 chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352
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 chrNW_004955452:15,628,852...15,682,514
Ensembl chrNW_004955452:15,629,724...15,681,754
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 chrNW_004955473:5,429,084...5,482,377
Ensembl chrNW_004955473:5,431,395...5,482,385
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 chrNW_004955442:14,933,550...14,989,492
Ensembl chrNW_004955442:14,933,550...14,989,492
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 chrNW_004955521:4,365,075...4,396,105
Ensembl chrNW_004955521:4,364,638...4,396,129
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 chrNW_004955490:4,069,866...4,140,494
Ensembl chrNW_004955490:4,069,494...4,140,532
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 chrNW_004955475:4,020,922...4,214,464
Ensembl chrNW_004955475:4,017,632...4,214,563
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 chrNW_004955509:5,326,145...5,338,250 JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:15,054,116...15,056,506
Ensembl chrNW_004955442:15,055,513...15,060,526
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 chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595
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 chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:15,075,427...15,092,786
Ensembl chrNW_004955442:15,030,219...15,092,786
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 chrNW_004955442:14,864,935...14,890,802
Ensembl chrNW_004955442:14,865,954...14,890,709
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 chrNW_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485
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:28492532 PMID:33473208 NCBI chrNW_004955403:23,617,764...23,634,689
Ensembl chrNW_004955403:23,619,399...23,634,731
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 chrNW_004955416:21,085,570...21,210,321
Ensembl chrNW_004955416:21,085,570...21,210,321
JBrowse link
G Csnk1e casein kinase 1 epsilon ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chrNW_004955413:24,560,889...24,591,669
Ensembl chrNW_004955413:24,560,900...24,591,669
JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:15,028,168...15,031,110
Ensembl chrNW_004955442:15,028,168...15,031,110
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 chrNW_004955570:752,335...781,770
Ensembl chrNW_004955570:752,335...781,770
JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:15,031,210...15,041,437
Ensembl chrNW_004955442:15,030,363...15,041,877
JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:15,010,412...15,027,014
Ensembl chrNW_004955442:15,010,412...15,027,014
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 chrNW_004955533:2,879,437...2,938,952
Ensembl chrNW_004955533:2,573,599...2,938,952
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004955433:14,004,813...14,170,631
Ensembl chrNW_004955433:14,004,813...14,172,707
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 NCBI chrNW_004955513:5,154,864...5,178,636
Ensembl chrNW_004955513:5,154,864...5,178,636
JBrowse link
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chrNW_004955446:17,146,915...17,457,843
Ensembl chrNW_004955446:17,151,311...17,457,888
JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chrNW_004955406:8,000,269...8,021,554
Ensembl chrNW_004955406:8,000,269...8,021,554
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:26224535 PMID:28492532 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
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 chrNW_004955435:14,074,346...14,080,026
Ensembl chrNW_004955435:14,074,346...14,078,806
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:14534157 PMID:23692823 PMID:25741868 PMID:27779742 PMID:28492532 NCBI chrNW_004955528:737,416...792,885
Ensembl chrNW_004955528:737,416...791,321
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 chrNW_004955522:2,514,313...2,519,694 JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:15,056,363...15,060,300
Ensembl chrNW_004955442:15,056,363...15,060,300
JBrowse link
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:33189936 NCBI chrNW_004955415:30,392,692...30,427,773
Ensembl chrNW_004955415:30,392,165...30,427,773
JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chrNW_004955422:20,444,109...20,551,870
Ensembl chrNW_004955422:20,391,722...20,551,870
JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,838,076...14,840,857
Ensembl chrNW_004955442:14,838,076...14,840,857
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:26626314 More... NCBI chrNW_004955538:3,559,738...3,616,862
Ensembl chrNW_004955538:3,559,724...3,619,649
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004955503:6,428,894...6,567,253
Ensembl chrNW_004955503:6,434,047...6,567,253
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 chrNW_004955509:4,896,208...4,990,101
Ensembl chrNW_004955509:4,896,190...4,990,149
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 chrNW_004955509:4,809,422...4,888,802
Ensembl chrNW_004955509:4,809,399...4,878,976
JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:15,051,149...15,053,123
Ensembl chrNW_004955442:15,051,183...15,052,289
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 chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004955415:18,210,608...18,915,099
Ensembl chrNW_004955415:18,210,662...18,915,158
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 chrNW_004955509:5,007,385...5,319,683
Ensembl chrNW_004955509:5,007,182...5,319,894
JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:15,114,333...15,119,481
Ensembl chrNW_004955442:15,114,333...15,120,123
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 chrNW_004955519:1,131,027...1,358,313
Ensembl chrNW_004955519:1,136,519...1,358,313
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 chrNW_004955442:14,995,404...15,009,358
Ensembl chrNW_004955442:14,995,404...15,009,358
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:18930999 More... NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
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 chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971
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 chrNW_004955449:3,093,603...3,182,513
Ensembl chrNW_004955449:3,093,603...3,186,737
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 chrNW_004955537:3,258,076...3,458,742
Ensembl chrNW_004955537:3,258,076...3,458,742
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955407:32,094,076...32,175,676
Ensembl chrNW_004955407:32,093,479...32,175,795
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 chrNW_004955537:2,968,839...3,017,863
Ensembl chrNW_004955537:2,968,839...3,017,863
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 chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
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 chrNW_004955442:14,856,517...14,862,391
Ensembl chrNW_004955442:14,856,269...14,862,338
JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:15,092,955...15,112,842
Ensembl chrNW_004955442:15,092,955...15,112,840
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
JBrowse link
G Ufsp2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chrNW_004955403:23,634,967...23,655,429
Ensembl chrNW_004955403:23,634,924...23,655,429
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 chrNW_004955522:1,265,732...2,185,372
Ensembl chrNW_004955522:1,265,404...2,184,562
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 chrNW_004955475:4,451,094...4,470,750
Ensembl chrNW_004955475:4,463,023...4,466,406
JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 8 OMIM
ClinVar
PMID:9536098 PMID:15215304 PMID:16199547 PMID:16616186 PMID:17576681 More... NCBI chrNW_004955475:4,020,922...4,214,464
Ensembl chrNW_004955475:4,017,632...4,214,563
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 chrNW_004955475:4,429,854...4,436,633
Ensembl chrNW_004955475:4,433,390...4,437,337
JBrowse link
G Mtmr8 myotubularin related protein 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chrNW_004955475:4,358,264...4,391,349 JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chrNW_004955475:4,569,263...4,604,571
Ensembl chrNW_004955475:4,568,005...4,604,577
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 chrNW_004955475:1,698,926...1,703,404
Ensembl chrNW_004955475:1,698,136...1,703,404
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 chrNW_004955409:28,067,814...28,516,881
Ensembl chrNW_004955409:28,077,621...28,516,944
JBrowse link
G Cd4 CD4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chrNW_004955413:4,400,326...4,422,110
Ensembl chrNW_004955413:4,408,390...4,421,535
JBrowse link
G Dag1 dystroglycan 1 ISO protein:decreased expression:skeletal muscle
protein:increased degradation:skeletal muscle
RGD PMID:7630355 PMID:11445638 PMID:15833425 RGD:11073211 RGD:11537476 RGD:11552581 NCBI chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312
JBrowse link
G Dmd dystrophin treatment ISO 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 OMIM
ClinVar
RGD
PMID:1301174 PMID:1301934 PMID:1307253 PMID:1363782 PMID:1383546 More... RGD:12880007 NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542
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 chrNW_004955531:106,761...183,347 JBrowse link
G Itga7 integrin subunit alpha 7 treatment ISO RGD PMID:23319059 RGD:13601981 NCBI chrNW_004955458:3,322,735...3,343,275
Ensembl chrNW_004955458:3,321,259...3,343,275
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:23977226 RGD:13204809 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:9542584 RGD:13825135 NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
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 chrNW_004955531:567,491...572,329
Ensembl chrNW_004955531:567,173...572,331
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 chrNW_004955505:2,878,001...2,959,299
Ensembl chrNW_004955505:2,878,081...2,958,404
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO RGD PMID:22934738 RGD:12910703 NCBI chrNW_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537
JBrowse link
G Postn periostin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chrNW_004955431:8,510,646...8,544,901
Ensembl chrNW_004955431:8,510,624...8,544,971
JBrowse link
G Snta1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:27,844,699...27,872,104
Ensembl chrNW_004955422:27,844,853...27,871,547
JBrowse link
G Stx1b syntaxin 1B ISO RGD PMID:26604869 RGD:12903957 NCBI chrNW_004955493:7,838,684...7,857,700
Ensembl chrNW_004955493:7,838,684...7,857,700
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO RGD PMID:26604869 RGD:12903957 NCBI chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759
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 chrNW_004955535:3,547,556...3,612,705
Ensembl chrNW_004955535:3,585,243...3,612,790
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 chrNW_004955531:207,614...293,127
Ensembl chrNW_004955531:267,216...293,127
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15616792 RGD:1580161 NCBI chrNW_004955506:3,769,113...3,812,896
Ensembl chrNW_004955506:3,768,646...3,813,820
JBrowse link
G Utrn utrophin ISO RGD PMID:9288751 RGD:737706 NCBI chrNW_004955436:15,730,416...16,237,379
Ensembl chrNW_004955436:15,730,020...16,231,919
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 chrNW_004955475:9,177,911...9,592,150
Ensembl chrNW_004955475:9,178,234...9,588,440
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chrNW_004955475:6,080,153...6,143,339
Ensembl chrNW_004955475:6,087,687...6,143,432
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chrNW_004955455:8,933,250...8,953,883
Ensembl chrNW_004955455:8,930,125...8,953,894
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: Ectodermal dysplasia and immunodeficiency 1 ClinVar PMID:25741868 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
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 OMIM
ClinVar
PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 More... NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802
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:31064749 NCBI chrNW_004955441:13,766,683...13,776,305
Ensembl chrNW_004955441:13,764,144...13,777,628
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 chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:11776297 RGD:11352263 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
JBrowse link
G Cfb complement factor B ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464
JBrowse link
G Cfp complement factor properdin ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chrNW_004955516:449,993...455,897
Ensembl chrNW_004955516:449,993...456,492
JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Hemophilia ClinVar PMID:25741868 NCBI chrNW_004955404:685,170...692,797
Ensembl chrNW_004955404:680,594...693,665
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 chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
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 chrNW_004955489:5,747,718...5,780,899
Ensembl chrNW_004955489:5,749,187...5,780,866
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 chrNW_004955594:627,839...656,241
Ensembl chrNW_004955594:625,701...656,400
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO DNA:repeat:promoter RGD PMID:23716558 RGD:10755564 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G Ifng interferon gamma treatment ISO DNA:SNP: :+874 A>T (human) RGD PMID:25930091 RGD:11055683 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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 chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G LOC102021406 histone H2A ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 PMID:22759210 NCBI chrNW_004955593:911,641...911,919 JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 NCBI chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866
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 chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Plat plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394
JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 NCBI chrNW_004955594:803,406...816,735 JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:22355108 PMID:24263002 PMID:24687919 RGD:11060141 RGD:11060147 RGD:11060256 NCBI chrNW_004955403:10,925,155...11,004,229
Ensembl chrNW_004955403:10,924,893...11,004,284
JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO DNA:polymorphism: :869T>C(rs1982037)(human) RGD PMID:25930091 RGD:11055683 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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 chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571
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 chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
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 chrNW_004955402:43,465,556...43,495,789
Ensembl chrNW_004955402:43,464,722...43,496,048
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 chrNW_004955441:13,766,683...13,776,305
Ensembl chrNW_004955441:13,764,144...13,777,628
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 chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814
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 CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
CTD
RGD
PMID:19200522 RGD:11576290 NCBI chrNW_004955565:879,560...1,242,727
Ensembl chrNW_004955565:879,830...1,237,692
JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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: Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome ClinVar PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNHXorf65 chromosome unknown CXorf65 homolog ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955475:10,674,333...10,676,485
Ensembl chrNW_004955475:10,674,197...10,677,048
JBrowse link
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955475:10,666,024...10,673,717
Ensembl chrNW_004955475:10,665,987...10,674,110
JBrowse link
G Gjb1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910
JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955475:10,676,592...10,680,565
Ensembl chrNW_004955475:10,676,870...10,680,517
JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955475:10,854,148...10,858,802
Ensembl chrNW_004955475:10,854,270...10,858,636
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 chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955475:10,712,170...10,735,857
Ensembl chrNW_004955475:10,712,170...10,735,857
JBrowse link
G Nono non-POU domain containing octamer binding ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955475:10,833,514...10,853,460
Ensembl chrNW_004955475:10,833,189...10,853,519
JBrowse link
G Slc7a3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955475:10,457,859...10,463,828
Ensembl chrNW_004955475:10,457,787...10,464,514
JBrowse link
G Snx12 sorting nexin 12 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955475:10,632,938...10,641,452
Ensembl chrNW_004955475:10,474,697...10,641,723
JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955475:10,930,175...11,006,876
Ensembl chrNW_004955475:10,930,192...11,005,724
JBrowse link
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955475:10,057,708...10,432,087 JBrowse link
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004955475:10,801,637...10,818,123
Ensembl chrNW_004955475:10,801,255...10,818,375
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 chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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 chrNW_004955565:879,560...1,242,727
Ensembl chrNW_004955565:879,830...1,237,692
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 chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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 chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617
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 chrNW_004955586:359,573...477,277
Ensembl chrNW_004955586:359,567...479,325
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 chrNW_004955509:383,083...435,163
Ensembl chrNW_004955509:381,959...417,347
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 chrNW_004955519:104,726...155,418 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 chrNW_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485
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 chrNW_004955509:577,975...594,028
Ensembl chrNW_004955509:577,975...594,028
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 chrNW_004955586:5,856...99,662
Ensembl chrNW_004955586:5,345...99,534
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 chrNW_004955509:447,053...568,590
Ensembl chrNW_004955509:450,486...494,290
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 chrNW_004955519:596,216...919,352
Ensembl chrNW_004955519:599,682...918,762
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 chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928
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 chrNW_004955586:482,353...549,512
Ensembl chrNW_004955586:482,353...552,616
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 chrNW_004955586:597,620...761,433
Ensembl chrNW_004955586:597,164...760,136
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 chrNW_004955519:494,463...553,839
Ensembl chrNW_004955519:494,463...553,839
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 chrNW_004955509:600,415...701,833
Ensembl chrNW_004955509:600,284...701,837
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 chrNW_004955519:578,343...591,299 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 chrNW_004955519:16,839...84,226
Ensembl chrNW_004955519:3,696...84,237
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 chrNW_004955509:6,157...344,930
Ensembl chrNW_004955509:4,960...345,012
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: GSD IXd | 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 chrNW_004955475:12,020,278...12,172,427
Ensembl chrNW_004955475:12,020,629...12,172,443
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 chrNW_004955586:482,353...549,512
Ensembl chrNW_004955586:482,353...552,616
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:10330341 PMID:16199547 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955586:482,353...549,512
Ensembl chrNW_004955586:482,353...552,616
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 chrNW_004955489:5,394,553...5,567,295
Ensembl chrNW_004955489:5,394,357...5,567,405
JBrowse link
G CUNHXorf66 chromosome unknown 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 chrNW_004955489:5,318,531...5,327,883 JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517
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 chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
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 chrNW_004955489:5,747,718...5,780,899
Ensembl chrNW_004955489:5,749,187...5,780,866
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 chrNW_004955489:5,613,310...5,715,688
Ensembl chrNW_004955489:5,665,530...5,709,891
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 chrNW_004955489:4,817,753...4,819,858
Ensembl chrNW_004955489:4,817,753...4,819,131
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 chrNW_004955548:682,409...685,886
Ensembl chrNW_004955548:682,409...685,900
JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 OMIM
ClinVar
PMID:1384324 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 More... NCBI chrNW_004955548:781,522...797,246
Ensembl chrNW_004955548:781,015...797,935
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:1384324 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 More... NCBI chrNW_004955548:825,208...829,815 JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:25741868 NCBI chrNW_004955441:471,609...521,920
Ensembl chrNW_004955441:485,815...520,452
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 chrNW_004955548:655,219...655,671 JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955435:17,163,099...17,173,427
Ensembl chrNW_004955435:17,163,099...17,173,427
JBrowse link
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 chrNW_004955435:17,173,975...17,179,986 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 chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510
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 chrNW_004955528:531,680...578,003
Ensembl chrNW_004955528:532,385...572,398
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 chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
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 chrNW_004955559:1,376,862...1,390,861
Ensembl chrNW_004955559:1,376,977...1,390,841
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 chrNW_004955473:725,822...742,698
Ensembl chrNW_004955473:725,193...736,944
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 chrNW_004955473:969,627...1,431,706
Ensembl chrNW_004955473:969,800...1,431,483
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:1781350 More... NCBI chrNW_004955473:462,940...510,006 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 chrNW_004955473:527,005...586,589
Ensembl chrNW_004955473:527,005...586,627
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 chrNW_004955499:6,486,287...6,686,739
Ensembl chrNW_004955499:6,486,682...6,687,484
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 with or without BRESHECK syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30431684 NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
G Mbtps2 membrane bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome OMIM
ClinVar
PMID:10694306 PMID:19361614 PMID:21426410 PMID:22105905 PMID:24090718 More... NCBI chrNW_004955509:2,185,054...2,222,497
Ensembl chrNW_004955509:2,184,522...2,222,505
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome ClinVar PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 NCBI chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046
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 chrNW_004955422:21,680,488...22,020,935 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 chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814
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 chrNW_004955422:22,031,825...22,246,478
Ensembl chrNW_004955422:22,032,258...22,247,044
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 chrNW_004955473:3,702,471...3,715,506
Ensembl chrNW_004955473:3,699,517...3,715,514
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 chrNW_004955543:1,358,086...1,367,838
Ensembl chrNW_004955543:1,357,997...1,367,897
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 chrNW_004955516:521,479...532,980
Ensembl chrNW_004955516:521,479...533,212
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 chrNW_004955543:2,304,112...2,345,376
Ensembl chrNW_004955543:2,339,659...2,345,406
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 chrNW_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364
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 chrNW_004955543:577,078...594,076
Ensembl chrNW_004955543:587,321...592,544
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 chrNW_004955543:719,185...731,788
Ensembl chrNW_004955543:718,996...733,753
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 chrNW_004955543:1,377,932...1,444,327 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 chrNW_004955516:860,474...873,338
Ensembl chrNW_004955516:860,480...873,338
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 chrNW_004955516:449,993...455,897
Ensembl chrNW_004955516:449,993...456,492
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 chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352
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 chrNW_004955543:1,468,328...1,601,101
Ensembl chrNW_004955543:1,468,328...1,601,101
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 chrNW_004955434:4,849,147...5,050,545
Ensembl chrNW_004955434:4,867,016...5,049,118
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 chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:11137992 PMID:11137993 PMID:28492532 NCBI chrNW_004955516:431,081...444,871
Ensembl chrNW_004955516:430,775...444,871
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 chrNW_004955543:381,756...383,093 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 chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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 chrNW_004955543:42,524...49,835
Ensembl chrNW_004955543:40,728...53,111
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 chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061
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 chrNW_004955543:320,087...321,311
Ensembl chrNW_004955543:319,985...323,393
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 chrNW_004955543:625,247...633,065 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 chrNW_004955543:500,340...527,243
Ensembl chrNW_004955543:500,340...527,267
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 chrNW_004955543:348,314...378,391
Ensembl chrNW_004955543:348,019...378,071
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 chrNW_004955516:998,854...1,133,013
Ensembl chrNW_004955516:998,725...1,061,279
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 chrNW_004955543:487,312...500,232
Ensembl chrNW_004955543:487,312...498,626
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 chrNW_004955516:934,740...937,207
Ensembl chrNW_004955516:934,740...937,207
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 chrNW_004955543:452,172...484,564
Ensembl chrNW_004955543:452,121...484,560
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 chrNW_004955543:383,984...387,885
Ensembl chrNW_004955543:384,123...387,744
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 chrNW_004955543:444,314...449,201
Ensembl chrNW_004955543:444,314...449,201
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 chrNW_004955543:658,617...662,441
Ensembl chrNW_004955543:658,486...662,441
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 chrNW_004955543:75,870...91,575
Ensembl chrNW_004955543:75,875...91,975
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 chrNW_004955543:750,094...767,894
Ensembl chrNW_004955543:750,323...766,797
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 chrNW_004955543:430,324...434,205
Ensembl chrNW_004955543:430,853...434,205
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 chrNW_004955543:594,662...597,695
Ensembl chrNW_004955543:594,606...598,264
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 chrNW_004955543:662,438...673,386
Ensembl chrNW_004955543:662,438...673,662
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 chrNW_004955516:904,852...934,313
Ensembl chrNW_004955516:904,062...934,313
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 chrNW_004955543:166,891...173,987
Ensembl chrNW_004955543:166,891...170,488
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 chrNW_004955516:958,416...978,829
Ensembl chrNW_004955516:955,680...978,910
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 chrNW_004955516:1,160,148...1,193,540 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 chrNW_004955543:1,810,125...2,046,144 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 chrNW_004955543:434,265...443,460
Ensembl chrNW_004955543:434,405...443,508
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 chrNW_004955543:15,968...24,644
Ensembl chrNW_004955543:16,089...24,668
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 chrNW_004955516:1,286,070...1,428,789
Ensembl chrNW_004955516:1,286,070...1,428,789
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 chrNW_004955516:103,674...106,082 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 chrNW_004955543:258,479...271,128
Ensembl chrNW_004955543:258,479...272,473
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 chrNW_004955516:460,258...521,484
Ensembl chrNW_004955516:460,198...521,484
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 chrNW_004955543:675,294...689,579
Ensembl chrNW_004955543:675,294...689,686
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 chrNW_004955543:127,314...154,235
Ensembl chrNW_004955543:127,162...154,235
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 chrNW_004955543:547,037...561,073
Ensembl chrNW_004955543:547,037...561,073
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 chrNW_004955543:425,076...430,767
Ensembl chrNW_004955543:425,076...430,767
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 chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
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 chrNW_004955516:876,542...898,763
Ensembl chrNW_004955516:876,354...891,206
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 chrNW_004955516:840,708...858,201
Ensembl chrNW_004955516:841,114...857,322
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 chrNW_004955543:1,023,931...1,027,048 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 chrNW_004955516:421,402...429,804
Ensembl chrNW_004955516:420,616...430,134
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 chrNW_004955543:243,618...253,489
Ensembl chrNW_004955543:247,631...253,274
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 chrNW_004955543:182,279...190,435
Ensembl chrNW_004955543:182,279...190,435
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 chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963
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 chrNW_004955516:692,871...727,103
Ensembl chrNW_004955516:692,871...727,103
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 chrNW_004955516:93,596...148,739 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 chrNW_004955516:611,591...646,109 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 chrNW_004955516:215,370...312,684
Ensembl chrNW_004955516:219,262...248,215
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 chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:586,986...600,299 JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168
JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663
JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:551,407...613,772
Ensembl chrNW_004955594:554,081...613,661
JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:336,681...349,435
Ensembl chrNW_004955580:336,681...349,435
JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389
JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:618,516...624,780
Ensembl chrNW_004955594:618,516...624,780
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510
JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243
JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:388,277...392,269
Ensembl chrNW_004955580:388,850...391,455
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849
JBrowse link
G Fam50a family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:941,620...947,763 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:627,839...656,241
Ensembl chrNW_004955594:625,701...656,400
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
JBrowse link
G Gab3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:882,921...955,079
Ensembl chrNW_004955594:912,108...956,037
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081
JBrowse link
G Haus7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:210,799...230,450
Ensembl chrNW_004955580:210,820...230,734
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608
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 chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802
JBrowse link
G Il9r interleukin 9 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955442:17,115,207...17,128,899
Ensembl chrNW_004955442:17,117,429...17,127,451
JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
JBrowse link
G Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617
JBrowse link
G LOC102021406 histone H2A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955593:911,641...911,919 JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288
JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866
JBrowse link
G Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:614,422...620,142
Ensembl chrNW_004955594:614,422...620,142
JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445
JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:401,411...406,663
Ensembl chrNW_004955580:401,297...405,065
JBrowse link
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439
JBrowse link
G Slc10a3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:419,696...426,727 JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:803,406...816,735 JBrowse link
G Spry3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:151,117...158,627
Ensembl chrNW_004955594:151,117...158,627
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:781,339...791,284 JBrowse link
G Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470
JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:272,668...329,997
Ensembl chrNW_004955594:272,646...331,757
JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:207,903...209,426
Ensembl chrNW_004955580:207,903...209,426
JBrowse link
G Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368
JBrowse link
G Vamp7 vesicle associated membrane protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:20,496...72,648
Ensembl chrNW_004955594:18,727...72,654
JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:450,048...477,504
Ensembl chrNW_004955594:447,750...477,796
JBrowse link
immunodeficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102012042 cytochrome b-245 heavy chain 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 chrNW_004955587:781,533...818,149
Ensembl chrNW_004955587:781,388...819,912
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 chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734
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 chrNW_004955475:5,301,856...5,370,378
Ensembl chrNW_004955475:5,301,910...5,370,691
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: Immunodeficiency 61 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29636373 NCBI chrNW_004955509:6,157...344,930
Ensembl chrNW_004955509:4,960...345,012
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 Armcx1 armadillo repeat containing X-linked 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004955503:7,633,088...7,637,415
Ensembl chrNW_004955503:7,634,140...7,637,403
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 chrNW_004955503:7,756,032...7,760,573
Ensembl chrNW_004955503:7,756,429...7,758,366
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 chrNW_004955503:7,705,821...7,709,169
Ensembl chrNW_004955503:7,705,821...7,709,142
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 chrNW_004955503:7,603,395...7,613,711
Ensembl chrNW_004955503:7,606,353...7,613,363
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:3486747 PMID:7627183 PMID:7633420 PMID:7633429 More... NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004955503:7,237,080...7,341,702 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 chrNW_004955503:6,949,901...6,971,281
Ensembl chrNW_004955503:6,949,823...6,975,030
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 chrNW_004955503:7,383,567...7,423,489
Ensembl chrNW_004955503:7,383,567...7,426,124
JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
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 chrNW_004955503:7,535,987...7,541,622 JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004955503:6,973,965...7,020,182
Ensembl chrNW_004955503:6,974,239...6,997,618
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004955503:6,428,894...6,567,253
Ensembl chrNW_004955503:6,434,047...6,567,253
JBrowse link
G Rpl36a ribosomal protein L36a ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004955503:7,520,530...7,523,593 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 chrNW_004955503:6,795,793...6,817,779
Ensembl chrNW_004955503:6,795,734...6,821,119
JBrowse link
G Sytl4 synaptotagmin like 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004955503:6,821,263...6,899,983
Ensembl chrNW_004955503:6,821,236...6,899,983
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 chrNW_004955503:7,429,876...7,451,051 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 chrNW_004955503:7,480,075...7,483,218
Ensembl chrNW_004955503:7,480,075...7,483,218
JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004955503:7,224,847...7,234,210
Ensembl chrNW_004955503:7,224,814...7,235,527
JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004955503:6,732,791...6,750,693
Ensembl chrNW_004955503:6,732,733...6,750,717
JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chrNW_004955503:6,782,264...6,788,533
Ensembl chrNW_004955503:6,779,377...6,789,142
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 chrNW_004955503:7,037,200...7,066,070
Ensembl chrNW_004955503:7,037,200...7,066,070
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 chrNW_004955519:4,433,747...4,470,842
Ensembl chrNW_004955519:4,433,855...4,471,070
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 chrNW_004955473:1,546,615...1,655,822
Ensembl chrNW_004955473:1,546,326...1,655,822
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:22412043 More... RGD:11576229 NCBI chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324
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 chrNW_004955473:462,940...510,006 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 chrNW_004955473:462,940...510,006 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 chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352
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 chrNW_004955413:4,511,251...4,524,037
Ensembl chrNW_004955413:4,516,532...4,522,831
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 chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
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 chrNW_004955490:5,108,308...5,218,679
Ensembl chrNW_004955490:5,108,308...5,257,445
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 chrNW_004955523:919,220...1,005,747
Ensembl chrNW_004955523:932,347...1,003,256
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 chrNW_004955509:4,437,044...4,457,819
Ensembl chrNW_004955509:4,436,750...4,457,819
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: MEND syndrome OMIM
ClinVar
PMID:11038443 PMID:12503101 PMID:12966533 PMID:18414213 PMID:20949533 More... NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
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 chrNW_004955484:8,862,221...8,867,881
Ensembl chrNW_004955484:8,862,206...8,867,771
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 chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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 chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597
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 chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622
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 chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288
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 chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608
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 chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
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 chrNW_004955580:781,339...791,284 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 chrNW_004955484:8,857,015...8,859,091
Ensembl chrNW_004955484:8,857,684...8,858,592
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 chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470
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 chrNW_004955523:919,220...1,005,747
Ensembl chrNW_004955523:932,347...1,003,256
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 chrNW_004955490:5,538,445...5,657,959
Ensembl chrNW_004955490:5,538,415...5,658,097
JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chrNW_004955490:5,409,277...5,420,508
Ensembl chrNW_004955490:5,409,202...5,415,202
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 chrNW_004955490:5,673,204...5,850,427
Ensembl chrNW_004955490:5,673,145...5,850,427
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 chrNW_004955473:10,345,407...10,370,535
Ensembl chrNW_004955473:10,346,943...10,370,575
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 chrNW_004955473:10,620,264...10,765,806
Ensembl chrNW_004955473:10,626,626...10,709,167
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 chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495
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 chrNW_004955519:2,351,754...2,370,650 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 chrNW_004955519:2,875,287...2,896,122
Ensembl chrNW_004955519:2,875,212...2,896,191
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 chrNW_004955519:2,902,802...2,941,358
Ensembl chrNW_004955519:2,902,802...2,941,433
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 chrNW_004955519:2,638,081...2,689,601
Ensembl chrNW_004955519:2,638,081...2,689,650
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 chrNW_004955519:2,415,722...2,455,052
Ensembl chrNW_004955519:2,412,289...2,455,280
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 chrNW_004955519:2,522,154...2,569,722
Ensembl chrNW_004955519:2,522,155...2,570,972
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 chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814
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 chrNW_004955519:3,290,137...3,336,817
Ensembl chrNW_004955519:3,286,847...3,337,286
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 chrNW_004955519:2,852,605...2,865,848
Ensembl chrNW_004955519:2,852,555...2,867,600
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 chrNW_004955519:2,698,207...2,813,201
Ensembl chrNW_004955519:2,698,172...2,813,206
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 chrNW_004955519:2,813,475...2,845,856
Ensembl chrNW_004955519:2,813,438...2,845,915
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 chrNW_004955519:2,377,955...2,402,446
Ensembl chrNW_004955519:2,378,246...2,394,561
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 arginine 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 chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
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 chrNW_004955475:9,845,633...9,969,965
Ensembl chrNW_004955475:9,845,633...9,970,564
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 chrNW_004955490:7,977,771...8,168,912
Ensembl chrNW_004955490:7,973,211...8,088,427
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 chrNW_004955565:1,479,040...1,602,070
Ensembl chrNW_004955565:1,479,040...1,602,070
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 chrNW_004955509:4,377,975...4,439,287
Ensembl chrNW_004955509:4,375,240...4,439,287
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 chrNW_004955544:1,619,742...2,095,314
Ensembl chrNW_004955544:1,620,838...2,095,220
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:26394714 PMID:28492532 PMID:29267967 More... NCBI chrNW_004955544:586,991...1,152,195
Ensembl chrNW_004955544:584,686...1,151,938
JBrowse link
G Msl3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 ClinVar NCBI chrNW_004955544:1,523,369...1,541,012
Ensembl chrNW_004955544:1,523,310...1,541,019
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 chrNW_004955543:1,023,931...1,027,048 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 chrNW_004955490:4,538,933...4,833,851
Ensembl chrNW_004955490:4,545,457...4,662,862
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 chrNW_004955489:8,360,027...8,459,309
Ensembl chrNW_004955489:8,360,072...8,459,377
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 chrNW_004955566:75,576...203,512
Ensembl chrNW_004955566:75,576...206,827
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 chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009
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 chrNW_004955543:42,524...49,835
Ensembl chrNW_004955543:40,728...53,111
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:23020937 PMID:24721225 PMID:25741868 PMID:27222290 More... NCBI chrNW_004955475:9,992,888...10,056,197
Ensembl chrNW_004955475:9,992,215...10,056,348
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 chrNW_004955529:834,459...992,259
Ensembl chrNW_004955529:842,940...992,413
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 chrNW_004955543:675,294...689,579
Ensembl chrNW_004955543:675,294...689,686
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 chrNW_004955475:550,643...671,771
Ensembl chrNW_004955475:551,159...671,747
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 chrNW_004955559:1,647,685...1,650,553
Ensembl chrNW_004955559:1,647,685...1,650,553
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 chrNW_004955565:1,479,040...1,602,070
Ensembl chrNW_004955565:1,479,040...1,602,070
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 chrNW_004955509:5,326,145...5,338,250 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: Atrophia bulborum hereditaria ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chrNW_004955414:6,094,585...6,103,910
Ensembl chrNW_004955414:6,094,585...6,098,865
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 chrNW_004955516:4,218,703...4,244,774
Ensembl chrNW_004955516:4,218,703...4,244,846
JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chrNW_004955414:6,202,383...6,213,521
Ensembl chrNW_004955414:6,202,383...6,213,521
JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chrNW_004955479:2,570,937...2,636,884
Ensembl chrNW_004955479:2,570,937...2,635,857
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 chrNW_004955534:152,291...154,183
Ensembl chrNW_004955534:152,300...154,183
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 chrNW_004955516:934,740...937,207
Ensembl chrNW_004955516:934,740...937,207
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 chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393
JBrowse link
oculocerebrorenal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt1 actin related protein T1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chrNW_004955473:6,849,016...6,850,445 JBrowse link
G Apln apelin ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chrNW_004955473:5,346,822...5,356,359
Ensembl chrNW_004955473:5,346,747...5,356,359
JBrowse link
G Ocrl OCRL inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Lowe syndrome | ClinVar Annotator: match by term: Oculocerebrorenal Syndrome OMIM
ClinVar
PMID:8504307 PMID:9199559 PMID:9536098 PMID:9632163 PMID:9682219 More... NCBI chrNW_004955473:5,429,084...5,482,377
Ensembl chrNW_004955473:5,431,395...5,482,385
JBrowse link
G Sash3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chrNW_004955473:5,224,635...5,237,066
Ensembl chrNW_004955473:5,222,408...5,237,260
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 chrNW_004955473:5,498,738...5,572,863
Ensembl chrNW_004955473:5,498,674...5,573,169
JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chrNW_004955473:5,248,065...5,274,469
Ensembl chrNW_004955473:5,245,746...5,274,698
JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:22965764 PMID:28492532 NCBI chrNW_004955473:5,174,575...5,208,767
Ensembl chrNW_004955473:5,174,563...5,208,767
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 chrNW_004955544:2,379,766...2,718,282
Ensembl chrNW_004955544:2,484,854...2,719,112
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 chrNW_004955509:2,185,054...2,222,497
Ensembl chrNW_004955509:2,184,522...2,222,505
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 chrNW_004955473:2,002,475...2,291,868
Ensembl chrNW_004955473:2,002,725...2,289,662
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 ClinVar
OMIM
PMID:1303262 PMID:1307250 PMID:1430233 PMID:1598912 PMID:2010552 More... NCBI chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069
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 chrNW_004955509:5,326,145...5,338,250 JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bex2 brain expressed X-linked 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chrNW_004955548:439,061...505,418 JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chrNW_004955548:526,844...528,406
Ensembl chrNW_004955548:526,549...529,753
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 chrNW_004955548:1,087,441...1,095,070 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 chrNW_004955548:1,017,047...1,046,580
Ensembl chrNW_004955548:1,016,991...1,046,580
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 chrNW_004955581:291,537...294,752 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 chrNW_004955548:1,462,746...2,623,622
Ensembl chrNW_004955548:1,518,695...2,623,232
JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955521:4,583,691...4,612,271
Ensembl chrNW_004955521:4,583,671...4,612,271
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 chrNW_004955548:682,409...685,886
Ensembl chrNW_004955548:682,409...685,900
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 chrNW_004955548:781,522...797,246
Ensembl chrNW_004955548:781,015...797,935
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 chrNW_004955548:825,208...829,815 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 chrNW_004955548:947,623...1,008,085
Ensembl chrNW_004955548:947,623...1,003,086
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 chrNW_004955548:655,219...655,671 JBrowse link
G Tceal7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chrNW_004955548:467,664...470,196 JBrowse link
G Tceal8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chrNW_004955548:391,202...393,533
Ensembl chrNW_004955548:391,202...393,533
JBrowse link
G Tceal9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chrNW_004955548:505,524...507,210
Ensembl chrNW_004955548:505,592...507,360
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 chrNW_004955548:956,736...959,379 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 chrNW_004955506:6,286,824...6,309,764
Ensembl chrNW_004955506:6,286,648...6,312,716
JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar NCBI chrNW_004955506:6,252,146...6,286,675
Ensembl chrNW_004955506:6,250,726...6,287,093
JBrowse link
peroxisome biogenesis disorder 2B 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: Peroxisome biogenesis disorder 2B ClinVar PMID:25741868 NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
JBrowse link
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,251,608...4,262,095 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 chrNW_004955493:6,023...31,418
Ensembl chrNW_004955493:6,023...31,418
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 chrNW_004955413:6,471,933...6,480,475
Ensembl chrNW_004955413:6,471,953...6,480,469
JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,511,251...4,524,037
Ensembl chrNW_004955413:4,516,532...4,522,831
JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,652,156...4,660,897
Ensembl chrNW_004955413:4,652,308...4,660,304
JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,663,643...4,670,454
Ensembl chrNW_004955413:4,662,303...4,670,638
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,620,450...4,630,860
Ensembl chrNW_004955413:4,620,450...4,630,860
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:6,707,003...6,715,689
Ensembl chrNW_004955413:6,707,689...6,715,689
JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,102,740...4,107,739
Ensembl chrNW_004955413:4,103,126...4,107,420
JBrowse link
G Cd4 CD4 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,400,326...4,422,110
Ensembl chrNW_004955413:4,408,390...4,421,535
JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,448,711...4,450,917
Ensembl chrNW_004955413:4,448,917...4,450,553
JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,191,619...4,228,225
Ensembl chrNW_004955413:4,191,619...4,228,225
JBrowse link
G Clec4d C-type lectin domain family 4 member D ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:5,267,548...5,276,969
Ensembl chrNW_004955413:5,267,161...5,277,090
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 chrNW_004955413:5,256,523...5,261,385
Ensembl chrNW_004955413:5,256,440...5,262,938
JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,690,637...4,719,929
Ensembl chrNW_004955413:4,690,637...4,719,929
JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,337,117...4,343,640
Ensembl chrNW_004955413:4,337,117...4,343,722
JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,563,864...4,570,809
Ensembl chrNW_004955413:4,563,864...4,570,809
JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,498,625...4,506,769
Ensembl chrNW_004955413:4,498,625...4,506,769
JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:6,692,343...6,705,760
Ensembl chrNW_004955413:6,686,398...6,703,173
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:6,493,734...6,516,315 JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,440,693...4,447,419
Ensembl chrNW_004955413:4,440,693...4,447,416
JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,425,609...4,428,901
Ensembl chrNW_004955413:4,425,344...4,428,901
JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,167,461...4,180,043
Ensembl chrNW_004955413:4,167,461...4,180,042
JBrowse link
G Ing4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,263,647...4,274,476
Ensembl chrNW_004955413:4,263,647...4,274,476
JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,379,529...4,385,456
Ensembl chrNW_004955413:4,378,972...4,385,909
JBrowse link
G LOC102009926 chromosome unknown open reading frame, human C12orf57 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,524,236...4,525,760
Ensembl chrNW_004955413:4,524,236...4,525,760
JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,238,312...4,249,869
Ensembl chrNW_004955413:4,238,319...4,249,869
JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,571,028...4,605,097
Ensembl chrNW_004955413:4,571,028...4,605,097
JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,491,443...4,498,283
Ensembl chrNW_004955413:4,491,573...4,498,283
JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,031,659...4,038,396
Ensembl chrNW_004955413:4,031,754...4,038,992
JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:6,401,429...6,415,177
Ensembl chrNW_004955413:6,402,293...6,413,992
JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,359,936...4,364,284
Ensembl chrNW_004955413:4,359,936...4,364,284
JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,135,206...4,136,392
Ensembl chrNW_004955413:4,135,206...4,136,392
JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:6,561,323...6,565,770 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 chrNW_004955413:4,136,492...4,160,550
Ensembl chrNW_004955413:4,137,216...4,160,550
JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:6,737,785...6,751,672
Ensembl chrNW_004955413:6,737,785...6,754,162
JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,180,463...4,190,827
Ensembl chrNW_004955413:4,180,573...4,190,490
JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,429,558...4,440,602
Ensembl chrNW_004955413:4,429,633...4,440,256
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:16199547 PMID:17576681 PMID:18712838 More... NCBI chrNW_004955413:4,736,189...4,755,559
Ensembl chrNW_004955413:4,736,189...4,755,766
JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,557,969...4,563,697
Ensembl chrNW_004955413:4,558,259...4,563,582
JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,309,104...4,314,961
Ensembl chrNW_004955413:4,309,104...4,314,961
JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,376,955...4,378,253
Ensembl chrNW_004955413:4,376,955...4,377,759
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 chrNW_004955413:4,525,954...4,547,177
Ensembl chrNW_004955413:4,525,954...4,547,177
JBrowse link
G Rbp5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,682,477...4,689,949
Ensembl chrNW_004955413:4,682,477...4,689,949
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 chrNW_004955413:6,298,833...6,362,812
Ensembl chrNW_004955413:6,306,414...6,346,278
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,000,083...4,023,596
Ensembl chrNW_004955413:3,999,613...4,023,596
JBrowse link
G Tapbpl TAP binding protein like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,108,044...4,116,413
Ensembl chrNW_004955413:4,108,052...4,115,760
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,467,615...4,471,594
Ensembl chrNW_004955413:4,467,566...4,471,177
JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,451,530...4,466,832
Ensembl chrNW_004955413:4,451,622...4,466,832
JBrowse link
G Vamp1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,117,367...4,124,149
Ensembl chrNW_004955413:4,117,367...4,124,149
JBrowse link
G Znf384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004955413:4,277,059...4,302,638
Ensembl chrNW_004955413:4,278,248...4,290,550
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 chrNW_004955557:1,566,534...1,584,799 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 chrNW_004955490:8,303,775...8,330,713
Ensembl chrNW_004955490:8,303,775...8,330,713
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 chrNW_004955475:1,441,068...1,641,599
Ensembl chrNW_004955475:1,446,498...1,642,061
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: Premature ovarian failure 2B OMIM
ClinVar
PMID:15459172 PMID:16773570 PMID:21940798 PMID:25676666 PMID:25741868 More... NCBI chrNW_004955529:4,137,746...4,224,542
Ensembl chrNW_004955529:4,136,480...4,224,537
JBrowse link
G Znf711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Premature ovarian failure 2B ClinVar NCBI chrNW_004955529:4,108,202...4,134,696
Ensembl chrNW_004955529:4,111,128...4,136,415
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 chrNW_004955420:17,684,752...17,714,639
Ensembl chrNW_004955420:17,693,573...17,715,211
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 chrNW_004955537:2,265,711...2,271,096
Ensembl chrNW_004955537:2,265,711...2,271,289
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:28492532 NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569
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 chrNW_004955543:430,324...434,205
Ensembl chrNW_004955543:430,853...434,205
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 chrNW_004955543:434,265...443,460
Ensembl chrNW_004955543:434,405...443,508
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:28492532 PMID:35112477 NCBI chrNW_004955519:4,433,747...4,470,842
Ensembl chrNW_004955519:4,433,855...4,471,070
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 chrNW_004955543:719,185...731,788
Ensembl chrNW_004955543:718,996...733,753
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 chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
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 chrNW_004955580:586,986...600,299 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 chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734
JBrowse link
G Avpr2 arginine 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 chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
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 chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168
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 chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243
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 chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904
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 chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849
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 chrNW_004955580:941,620...947,763 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 chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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 chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
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 chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081
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 chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597
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 chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608
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 chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802
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 chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622
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 chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
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 chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617
JBrowse link
G Mecp2 methyl-CpG binding protein 2 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 chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288
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 chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608
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 chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917
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 chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772
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 chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445
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 chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
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 chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439
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 chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673
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 chrNW_004955580:419,696...426,727 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 chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709
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 chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498
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 chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791
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 chrNW_004955580:781,339...791,284 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 chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470
JBrowse link
G Ubl4a ubiquitin like 4A 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 chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368
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:26132940 More... NCBI chrNW_004955473:4,990,974...5,054,829
Ensembl chrNW_004955473:4,989,366...5,054,925
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: 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:mutations:exons:p.K299Q,A172T(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
OMIM
ClinVar
RGD
PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More... RGD:11035241 RGD:11035243 NCBI chrNW_004955475:2,362,368...2,382,680
Ensembl chrNW_004955475:2,362,118...2,377,864
JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chrNW_004955475:2,343,992...2,359,492
Ensembl chrNW_004955475:2,344,087...2,359,906
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:28492532 NCBI chrNW_004955420:29,988,147...29,996,485
Ensembl chrNW_004955420:29,988,147...29,996,486
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 chrNW_004955473:969,627...1,431,706
Ensembl chrNW_004955473:969,800...1,431,483
JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955473:1,546,615...1,655,822
Ensembl chrNW_004955473:1,546,326...1,655,822
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
JBrowse link
G Retsat retinol saturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chrNW_004955424:2,107,602...2,122,029
Ensembl chrNW_004955424:2,107,602...2,122,029
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 chrNW_004955519:4,433,747...4,470,842
Ensembl chrNW_004955519:4,433,855...4,471,070
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 chrNW_004955557:906,361...915,590
Ensembl chrNW_004955557:905,576...919,415
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 chrNW_004955519:2,351,754...2,370,650 JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chrNW_004955572:1,308,491...1,365,147 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 chrNW_004955565:1,387,043...1,403,624
Ensembl chrNW_004955565:1,386,973...1,404,220
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 chrNW_004955475:243,666...278,064
Ensembl chrNW_004955475:243,666...278,627
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 chrNW_004955475:1,105,619...1,230,758
Ensembl chrNW_004955475:1,105,619...1,230,756
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 chrNW_004955509:2,277,501...2,328,612
Ensembl chrNW_004955509:2,276,878...2,329,620
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 chrNW_004955498:1,012,323...1,497,031
Ensembl chrNW_004955498:1,012,555...1,492,616
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 chrNW_004955486:5,115,469...5,890,028
Ensembl chrNW_004955486:5,116,677...5,872,167
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 chrNW_004955475:550,643...671,771
Ensembl chrNW_004955475:551,159...671,747
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 chrNW_004955486:8,857,693...8,921,821
Ensembl chrNW_004955486:8,857,693...8,921,821
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 chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
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 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 chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439
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 chrNW_004955509:5,007,385...5,319,683
Ensembl chrNW_004955509:5,007,182...5,319,894
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 chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389
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 chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009
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 chrNW_004955475:11,748,502...12,012,884
Ensembl chrNW_004955475:11,748,365...12,013,241
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 chrNW_004955475:5,143,641...5,189,075
Ensembl chrNW_004955475:5,164,877...5,189,928
JBrowse link
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wilson-Turner syndrome ClinVar NCBI chrNW_004955475:4,676,190...5,162,108
Ensembl chrNW_004955475:5,126,158...5,162,108
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 chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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 chrNW_004955543:243,618...253,489
Ensembl chrNW_004955543:247,631...253,274
JBrowse link
G Washc4 WASH complex subunit 4 ISO OMIM:301000 MouseDO NCBI chrNW_004955405:39,451,423...39,499,295
Ensembl chrNW_004955405:39,451,404...39,499,295
JBrowse link
G Wipf1 WAS/WASL interacting protein family member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955449:760,382...831,007 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 chrNW_004955463:7,495,243...7,633,532
Ensembl chrNW_004955463:7,525,100...7,633,596
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 chrNW_004955449:661,310...683,873
Ensembl chrNW_004955449:661,304...683,873
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 chrNW_004955449:760,382...831,007 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:14560308 PMID:21739585 PMID:23211637 PMID:25046119 PMID:25741868 More... NCBI chrNW_004955475:1,703,374...1,752,710
Ensembl chrNW_004955475:1,703,374...1,752,710
JBrowse link
G Tsr2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-related condition ClinVar PMID:25741868 NCBI chrNW_004955475:1,698,926...1,703,404
Ensembl chrNW_004955475:1,698,136...1,703,404
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 chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542
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 chrNW_004955531:106,761...183,347 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 chrNW_004955531:567,491...572,329
Ensembl chrNW_004955531:567,173...572,331
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 chrNW_004955535:3,547,556...3,612,705
Ensembl chrNW_004955535:3,585,243...3,612,790
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 chrNW_004955531:207,614...293,127
Ensembl chrNW_004955531:267,216...293,127
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 a mouse model
Human gene in mouse model
OMIM
ClinVar
RGD
PMID:2896233 PMID:4697357 PMID:7554467 PMID:7627183 PMID:7633420 More... RGD:124713551 RGD:124715475 NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO OMIM:300310 | OMIM:300755 MouseDO NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820
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 chrNW_004955601:398,772...453,271 JBrowse link
X-linked chondrodysplasia punctata 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsl arylsulfatase L 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 chrNW_004955499:1,751,663...1,773,112
Ensembl chrNW_004955499:1,747,649...1,773,110
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775
JBrowse link
X-linked chronic granulomatous disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004955587:828,730...838,614
Ensembl chrNW_004955587:827,278...838,869
JBrowse link
G Hypm huntingtin interacting protein M ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chrNW_004955601:38,906...39,259 JBrowse link
G LOC102004641 cytochrome b-245 light chain ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:28492532 NCBI chrNW_004955541:2,570,843...2,573,822
Ensembl chrNW_004955541:2,569,727...2,574,118
JBrowse link
G LOC102012042 cytochrome b-245 heavy chain 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 chrNW_004955587:781,533...818,149
Ensembl chrNW_004955587:781,388...819,912
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 chrNW_004955456:13,353,780...13,363,956
Ensembl chrNW_004955456:13,354,011...13,363,891
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 chrNW_004955601:481,524...543,176
Ensembl chrNW_004955601:481,480...543,176
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 chrNW_004955601:398,772...453,271 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 chrNW_004955601:286,092...364,235
Ensembl chrNW_004955601:286,069...364,235
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 chrNW_004955601:76,647...210,198
Ensembl chrNW_004955601:76,647...210,208
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 chrNW_004955587:668,871...725,829
Ensembl chrNW_004955587:668,070...728,959
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 chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
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 chrNW_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364
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 chrNW_004955489:5,394,553...5,567,295
Ensembl chrNW_004955489:5,394,357...5,567,405
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 OMIM
ClinVar
PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 NCBI chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428
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 ClinVar PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 NCBI chrNW_004955473:4,875,230...4,891,898
Ensembl chrNW_004955473:4,875,202...4,887,177
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:14985388 PMID:18414213 PMID:19153371 PMID:20170900 PMID:22210628 More... NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393
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 chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061
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 chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510
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 chrNW_004955528:531,680...578,003
Ensembl chrNW_004955528:532,385...572,398
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: X-linked dystonia-parkinsonism OMIM
ClinVar
PMID:17273961 PMID:25741868 PMID:28492532 PMID:32396742 NCBI chrNW_004955475:10,930,175...11,006,876
Ensembl chrNW_004955475:10,930,192...11,005,724
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 chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904
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:2338570 PMID:2733290 PMID:2753225 PMID:9536098 More... NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
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 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 chrNW_004955489:8,888,845...8,944,778
Ensembl chrNW_004955489:8,888,779...8,901,970
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:25741868 NCBI chrNW_004955403:18,057,344...18,328,389 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 chrNW_004955489:8,690,268...8,801,358
Ensembl chrNW_004955489:8,701,814...8,801,358
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 chrNW_004955489:8,360,027...8,459,309
Ensembl chrNW_004955489:8,360,072...8,459,377
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 chrNW_004955489:8,627,569...8,631,810
Ensembl chrNW_004955489:8,627,569...8,631,810
JBrowse link
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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 chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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 chrNW_004955489:8,888,845...8,944,778
Ensembl chrNW_004955489:8,888,779...8,901,970
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 chrNW_004955489:8,125,763...8,127,280
Ensembl chrNW_004955489:8,125,763...8,127,280
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 chrNW_004955489:8,607,649...8,622,044
Ensembl chrNW_004955489:8,607,629...8,622,044
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 chrNW_004955489:8,851,359...8,884,867 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 chrNW_004955489:8,280,842...8,286,252
Ensembl chrNW_004955489:8,280,794...8,286,252
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 chrNW_004955489:9,020,719...9,078,375
Ensembl chrNW_004955489:9,019,425...9,078,705
JBrowse link
G Ung uracil DNA glycosylase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chrNW_004955455:10,266,989...10,282,196
Ensembl chrNW_004955455:10,266,989...10,282,196
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 chrNW_004955489:8,569,891...8,586,770 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 chrNW_004955489:7,560,684...7,571,739
Ensembl chrNW_004955489:7,560,684...7,571,892
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 chrNW_004955499:5,875,706...5,925,809
Ensembl chrNW_004955499:5,892,761...5,924,736
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 chrNW_004955499:5,110,297...5,181,487
Ensembl chrNW_004955499:5,111,615...5,181,645
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 chrNW_004955499:5,180,451...5,347,862
Ensembl chrNW_004955499:5,180,214...5,345,221
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 chrNW_004955544:424,897...443,562
Ensembl chrNW_004955544:424,850...443,564
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 chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393
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 chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724
JBrowse link
G LOC102020494 cytochrome c oxidase subunit 7B, mitochondrial ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:24550228 PMID:28492532 NCBI chrNW_004955557:1,341,934...1,348,610
Ensembl chrNW_004955557:1,341,934...1,348,610
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 chrNW_004955557:1,294,408...1,336,164
Ensembl chrNW_004955557:1,290,615...1,336,198
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 chrNW_004955557:1,566,534...1,584,799 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 chrNW_004955475:285,977...369,380
Ensembl chrNW_004955475:284,168...369,400
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 chrNW_004955516:1,286,070...1,428,789
Ensembl chrNW_004955516:1,286,070...1,428,789
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 chrNW_004955498:1,012,323...1,497,031
Ensembl chrNW_004955498:1,012,555...1,492,616
JBrowse link
G LOC102021597 alpha-1-antiproteinase S-like 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 chrNW_004955438:17,920,200...17,929,105 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 chrNW_004955418:1,322,644...1,583,352
Ensembl chrNW_004955418:1,392,985...1,583,376
JBrowse link
G Thoc2 THO complex 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 chrNW_004955473:11,029,860...11,143,493
Ensembl chrNW_004955473:11,029,714...11,144,880
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 chrNW_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485
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 chrNW_004955509:2,185,054...2,222,497
Ensembl chrNW_004955509:2,184,522...2,222,505
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 chrNW_004955545:2,929,704...2,947,579
Ensembl chrNW_004955545:2,929,704...2,947,579
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:3658675 PMID:9536098 PMID:9771704 PMID:9811875 PMID:10549287 More... NCBI chrNW_004955473:10,345,407...10,370,535
Ensembl chrNW_004955473:10,346,943...10,370,575
JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked ClinVar PMID:25741868 NCBI chrNW_004955545:2,881,954...2,891,021
Ensembl chrNW_004955545:2,881,563...2,891,509
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 chrNW_004955473:10,823,795...10,878,256
Ensembl chrNW_004955473:10,827,435...10,840,604
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 chrNW_004955473:11,283,642...11,574,836
Ensembl chrNW_004955473:11,281,379...11,574,907
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 chrNW_004955473:10,345,407...10,370,535
Ensembl chrNW_004955473:10,346,943...10,370,575
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 chrNW_004955473:10,620,264...10,765,806
Ensembl chrNW_004955473:10,626,626...10,709,167
JBrowse link
G Thoc2 THO complex 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 chrNW_004955473:11,029,860...11,143,493
Ensembl chrNW_004955473:11,029,714...11,144,880
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 chrNW_004955473:10,823,795...10,878,256
Ensembl chrNW_004955473:10,827,435...10,840,604
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 chrNW_004955509:2,185,054...2,222,497
Ensembl chrNW_004955509:2,184,522...2,222,505
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 chrNW_004955498:6,529,039...6,591,728 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 chrNW_004955498:6,707,630...6,711,854
Ensembl chrNW_004955498:6,707,630...6,711,854
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 chrNW_004955498:6,633,540...6,640,393
Ensembl chrNW_004955498:6,633,336...6,640,459
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 chrNW_004955498:6,215,236...6,273,091 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 chrNW_004955498:6,329,402...6,444,708
Ensembl chrNW_004955498:6,329,275...6,445,169
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 chrNW_004955498:6,462,706...6,528,297
Ensembl chrNW_004955498:6,462,626...6,528,380
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 chrNW_004955498:6,874,980...6,887,561
Ensembl chrNW_004955498:6,874,776...6,887,658
JBrowse link
X-linked nephrogenic diabetes insipidus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr2 arginine 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 chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
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 chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352
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: X-linked parkinsonism-spasticity syndrome OMIM
ClinVar
PMID:20629132 PMID:23595882 NCBI chrNW_004955565:2,006,154...2,029,921 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 chrNW_004955516:449,993...455,897
Ensembl chrNW_004955516:449,993...456,492
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 chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352
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 chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910
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 chrNW_004955475:10,676,592...10,680,565
Ensembl chrNW_004955475:10,676,870...10,680,517
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 chrNW_004955475:10,854,148...10,858,802
Ensembl chrNW_004955475:10,854,270...10,858,636
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955475:10,712,170...10,735,857
Ensembl chrNW_004955475:10,712,170...10,735,857
JBrowse link
G Nono non-POU domain containing octamer binding ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955475:10,833,514...10,853,460
Ensembl chrNW_004955475:10,833,189...10,853,519
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 chrNW_004955475:10,930,175...11,006,876
Ensembl chrNW_004955475:10,930,192...11,005,724
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 chrNW_004955475:10,801,637...10,818,123
Ensembl chrNW_004955475:10,801,255...10,818,375
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 chrNW_004955543:1,358,086...1,367,838
Ensembl chrNW_004955543:1,357,997...1,367,897
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 chrNW_004955516:521,479...532,980
Ensembl chrNW_004955516:521,479...533,212
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:2,304,112...2,345,376
Ensembl chrNW_004955543:2,339,659...2,345,406
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 chrNW_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:577,078...594,076
Ensembl chrNW_004955543:587,321...592,544
JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:719,185...731,788
Ensembl chrNW_004955543:718,996...733,753
JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:1,377,932...1,444,327 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 chrNW_004955516:860,474...873,338
Ensembl chrNW_004955516:860,480...873,338
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 chrNW_004955516:449,993...455,897
Ensembl chrNW_004955516:449,993...456,492
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352
JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:1,468,328...1,601,101
Ensembl chrNW_004955543:1,468,328...1,601,101
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 chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chrNW_004955516:431,081...444,871
Ensembl chrNW_004955516:430,775...444,871
JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:381,756...383,093 JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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 chrNW_004955543:42,524...49,835
Ensembl chrNW_004955543:40,728...53,111
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:320,087...321,311
Ensembl chrNW_004955543:319,985...323,393
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 chrNW_004955543:625,247...633,065 JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:500,340...527,243
Ensembl chrNW_004955543:500,340...527,267
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:348,314...378,391
Ensembl chrNW_004955543:348,019...378,071
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 chrNW_004955516:998,854...1,133,013
Ensembl chrNW_004955516:998,725...1,061,279
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 chrNW_004955543:487,312...500,232
Ensembl chrNW_004955543:487,312...498,626
JBrowse link
G LOC102018844 neutrophil elastase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:24033266 NCBI chrNW_004955495:6,964,577...6,967,208
Ensembl chrNW_004955495:6,964,667...6,967,106
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 chrNW_004955516:934,740...937,207
Ensembl chrNW_004955516:934,740...937,207
JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:452,172...484,564
Ensembl chrNW_004955543:452,121...484,560
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 chrNW_004955543:383,984...387,885
Ensembl chrNW_004955543:384,123...387,744
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 chrNW_004955543:444,314...449,201
Ensembl chrNW_004955543:444,314...449,201
JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:658,617...662,441
Ensembl chrNW_004955543:658,486...662,441
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 chrNW_004955543:75,870...91,575
Ensembl chrNW_004955543:75,875...91,975
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 chrNW_004955543:750,094...767,894
Ensembl chrNW_004955543:750,323...766,797
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:430,324...434,205
Ensembl chrNW_004955543:430,853...434,205
JBrowse link
G Praf2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:594,662...597,695
Ensembl chrNW_004955543:594,606...598,264
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 chrNW_004955543:662,438...673,386
Ensembl chrNW_004955543:662,438...673,662
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 chrNW_004955516:904,852...934,313
Ensembl chrNW_004955516:904,062...934,313
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 chrNW_004955543:166,891...173,987
Ensembl chrNW_004955543:166,891...170,488
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 chrNW_004955516:958,416...978,829
Ensembl chrNW_004955516:955,680...978,910
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 chrNW_004955516:1,160,148...1,193,540 JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:1,810,125...2,046,144 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 chrNW_004955543:434,265...443,460
Ensembl chrNW_004955543:434,405...443,508
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 chrNW_004955543:15,968...24,644
Ensembl chrNW_004955543:16,089...24,668
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 chrNW_004955516:1,286,070...1,428,789
Ensembl chrNW_004955516:1,286,070...1,428,789
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 chrNW_004955516:103,674...106,082 JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:258,479...271,128
Ensembl chrNW_004955543:258,479...272,473
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 chrNW_004955516:460,258...521,484
Ensembl chrNW_004955516:460,198...521,484
JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:675,294...689,579
Ensembl chrNW_004955543:675,294...689,686
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 chrNW_004955543:127,314...154,235
Ensembl chrNW_004955543:127,162...154,235
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 chrNW_004955543:547,037...561,073
Ensembl chrNW_004955543:547,037...561,073
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 chrNW_004955543:425,076...430,767
Ensembl chrNW_004955543:425,076...430,767
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 chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
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 chrNW_004955516:876,542...898,763
Ensembl chrNW_004955516:876,354...891,206
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 chrNW_004955516:840,708...858,201
Ensembl chrNW_004955516:841,114...857,322
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 chrNW_004955543:1,023,931...1,027,048 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 chrNW_004955516:421,402...429,804
Ensembl chrNW_004955516:420,616...430,134
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:8069912 More... NCBI chrNW_004955543:243,618...253,489
Ensembl chrNW_004955543:247,631...253,274
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 chrNW_004955543:182,279...190,435
Ensembl chrNW_004955543:182,279...190,435
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963
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 chrNW_004955516:692,871...727,103
Ensembl chrNW_004955516:692,871...727,103
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 chrNW_004955516:93,596...148,739 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 chrNW_004955516:611,591...646,109 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 chrNW_004955516:215,370...312,684
Ensembl chrNW_004955516:219,262...248,215
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 chrNW_004955562:1,079,884...1,220,806
Ensembl chrNW_004955562:1,077,198...1,221,061
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar NCBI chrNW_004955475:2,362,368...2,382,680
Ensembl chrNW_004955475:2,362,118...2,377,864
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: Spermatogenic failure, X-linked, 2 OMIM
ClinVar
PMID:25970010 PMID:28492532 NCBI chrNW_004955475:10,057,708...10,432,087 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: Infantile-onset X-linked spinal muscular atrophy | ClinVar Annotator: match by term: Spinal Muscular Atrophy, X-Linked Infantile OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18179898 PMID:20301739 More... NCBI chrNW_004955516:876,542...898,763
Ensembl chrNW_004955516:876,354...891,206
JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:23623388 NCBI chrNW_004955475:4,569,263...4,604,571
Ensembl chrNW_004955475:4,568,005...4,604,577
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 chrNW_004955562:1,079,884...1,220,806
Ensembl chrNW_004955562:1,077,198...1,221,061
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 chrNW_004955475:4,451,094...4,470,750
Ensembl chrNW_004955475:4,463,023...4,466,406
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:26633542 More... NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471
JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393
JBrowse link
G Nhsl2 NHS like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004955475:11,208,632...11,523,215
Ensembl chrNW_004955475:11,243,018...11,517,526
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 chrNW_004955475:12,020,278...12,172,427
Ensembl chrNW_004955475:12,020,629...12,172,443
JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004955490:5,409,277...5,420,508
Ensembl chrNW_004955490:5,409,202...5,415,202
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 chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
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 chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663
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 chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428
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 chrNW_004955473:4,875,230...4,891,898
Ensembl chrNW_004955473:4,875,202...4,887,177
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 chrNW_004955519:4,433,747...4,470,842
Ensembl chrNW_004955519:4,433,855...4,471,070
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 chrNW_004955519:4,470,906...4,485,969 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 chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061
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 chrNW_004955409:26,136,961...26,231,960
Ensembl chrNW_004955409:26,149,665...26,231,180
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 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814
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 chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180
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 chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chrNW_004955433:9,146,074...9,161,171
Ensembl chrNW_004955433:9,144,748...9,161,171
JBrowse link
G Zic3 Zic family member 3 ISO 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 chrNW_004955489:7,560,684...7,571,739
Ensembl chrNW_004955489:7,560,684...7,571,892
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15993
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15946
        genetic disease 15936
          monogenic disease 9389
            X-linked monogenic disease 1192
              X-linked recessive disease 522
                AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 1
                Aland Island eye disease 3
                Allan-Herndon-Dudley syndrome 1
                Barth syndrome + 59
                Borjeson-Forssman-Lehmann syndrome 1
                Brunner syndrome 3
                CD40 ligand deficiency + 3
                CK syndrome 1
                Charcot-Marie-Tooth disease X-linked recessive 2 0
                Charcot-Marie-Tooth disease X-linked recessive 3 0
                Charcot-Marie-Tooth disease X-linked recessive 4 2
                Charcot-Marie-Tooth disease X-linked recessive 5 1
                Dent disease + 3
                Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 1
                Duchenne muscular dystrophy + 20
                FG syndrome + 15
                Fanconi anemia complementation group B 1
                Galloway-Mowat syndrome 2 1
                HRPT-related hyperuricemia 5
                IGSF1 deficiency syndrome 4
                Joubert syndrome 10 1
                Keipert syndrome 1
                Kennedy's disease 2
                Lesch-Nyhan syndrome + 1
                MASA syndrome 2
                MEHMO syndrome 1
                MEND syndrome 1
                Mullegama-Klein-Martinez syndrome 2
                Norrie disease 4
                Opitz GBBB syndrome 1
                Paganini-Miozzo syndrome 1
                Partington syndrome 1
                Pelizaeus-Merzbacher disease + 16
                Prieto syndrome 1
                Renpenning syndrome 2
                Ritscher-Schinzel syndrome 2 1
                Shukla-Vernon syndrome 1
                Simpson-Golabi-Behmel syndrome type 1 4
                Simpson-Golabi-Behmel syndrome type 2 1
                Van Esch-O'Driscoll syndrome 1
                Waisman syndrome 2
                Wilson-Turner syndrome 3
                Wiskott-Aldrich syndrome + 6
                X-Linked immunodeficiency 74 1
                X-linked Aarskog syndrome 2
                X-linked Emery-Dreifuss muscular dystrophy 1 2
                X-linked Emery-Dreifuss muscular dystrophy 6 2
                X-linked VACTERL association 6
                X-linked adrenal hypoplasia congenita 5
                X-linked agammaglobulinemia + 3
                X-linked atrophic macular degeneration 1
                X-linked chondrodysplasia punctata 1 3
                X-linked chronic granulomatous disease 10
                X-linked chronic idiopathic intestinal pseudo-obstruction 1
                X-linked cone-rod dystrophy 3 1
                X-linked congenital hemolytic anemia 1
                X-linked deafness 5 2
                X-linked distal spinal muscular atrophy 3 1
                X-linked dyserythropoietic anemia 1
                X-linked dyskeratosis congenita + 5
                X-linked dystonia-parkinsonism 1
                X-linked hyper IgM syndrome 14
                X-linked ichthyosis + 3
                X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 5
                X-linked intellectual developmental disorder 108 2
                X-linked intellectual developmental disorder 109 2
                X-linked intellectual disability-short stature-overweight syndrome 2
                X-linked juvenile retinoschisis 1 1
                X-linked keratosis follicularis spinulosa decalvans 1
                X-linked lymphoproliferative syndrome 1 4
                X-linked lymphoproliferative syndrome 2 5
                X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques 1
                X-linked myopathy with excessive autophagy 7
                X-linked nephrogenic diabetes insipidus 1
                X-linked nephrolithiasis type I 1
                X-linked parkinsonism-spasticity syndrome 1
                X-linked properdin deficiency 1
                X-linked recessive hypophosphatemic rickets 1
                X-linked severe combined immunodeficiency 8
                X-linked severe congenital neutropenia 61
                X-linked sideroblastic anemia with ataxia 2
                X-linked spermatogenic failure 2 1
                X-linked spermatogenic failure 3 0
                X-linked spinal muscular atrophy 2 2
                X-linked spinocerebellar ataxia 1 7
                X-linked spinocerebellar ataxia 5 0
                X-linked spondyloepimetaphyseal dysplasia + 4
                X-linked spondyloepiphyseal dysplasia tarda 2
                X-linked thrombocytopenia with beta-thalassemia 1
                adrenoleukodystrophy + 122
                blue cone monochromacy 0
                combined oxidative phosphorylation deficiency 6 2
                congenital disorder of glycosylation Icc 1
                congenital disorder of glycosylation Iy 4
                congenital nongoitrous hypothyroidism 9 1
                congenital stationary night blindness 1A 1
                congenital stationary night blindness 2A 1
                developmental and epileptic encephalopathy 1 54
                developmental and epileptic encephalopathy 8 5
                ectodermal dysplasia 1 + 3
                factor VIII deficiency + 22
                frontometaphyseal dysplasia 1 1
                glycogen storage disease IXA 16
                glycogen storage disease IXD 2
                glycogen storage disease VIII 1
                hemophilia B 7
                hereditary sensory neuropathy X-linked 0
                hereditary spastic paraplegia 16 0
                hereditary spastic paraplegia 2 5
                hereditary spastic paraplegia 34 0
                hypogonadotropic hypogonadism 1 with or without anosmia 1
                ichthyosis follicularis-alopecia-photophobia syndrome 1 3
                immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 61
                immunodeficiency 33 57
                immunodeficiency 34 1
                immunodeficiency 47 1
                immunodeficiency 50 1
                isolated growth hormone deficiency type III 21
                megalocornea + 2
                methylmalonic acidemia and homocysteinemia cblX type 10
                midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 3
                multiple congenital anomalies-hypotonia-seizures syndrome 2 13
                nephrogenic syndrome of inappropriate antidiuresis 1
                non-syndromic X-linked intellectual disability 100 1
                non-syndromic X-linked intellectual disability 101 2
                non-syndromic X-linked intellectual disability 103 1
                non-syndromic X-linked intellectual disability 104 3
                non-syndromic X-linked intellectual disability 105 1
                non-syndromic X-linked intellectual disability 21 0
                non-syndromic X-linked intellectual disability 30 1
                non-syndromic X-linked intellectual disability 46 1
                non-syndromic X-linked intellectual disability 53 0
                non-syndromic X-linked intellectual disability 58 1
                non-syndromic X-linked intellectual disability 72 1
                non-syndromic X-linked intellectual disability 73 0
                non-syndromic X-linked intellectual disability 77 0
                non-syndromic X-linked intellectual disability 81 0
                non-syndromic X-linked intellectual disability 82 0
                non-syndromic X-linked intellectual disability 84 0
                non-syndromic X-linked intellectual disability 9 1
                non-syndromic X-linked intellectual disability 90 1
                non-syndromic X-linked intellectual disability 92 0
                non-syndromic X-linked intellectual disability 93 1
                non-syndromic X-linked intellectual disability 96 1
                non-syndromic X-linked intellectual disability 99 3
                non-syndromic X-linked intellectual disability ARX-related 1
                nuclear type mitochondrial complex I deficiency 12 1
                nuclear type mitochondrial complex I deficiency 30 1
                occipital horn syndrome 1
                oculocerebrorenal syndrome + 10
                orofaciodigital syndrome VIII 0
                osteogenesis imperfecta type 19 1
                partial androgen insensitivity syndrome 1
                phosphoglycerate kinase 1 deficiency 1
                phosphoribosylpyrophosphate synthetase superactivity 1
                primary ovarian insufficiency 2B 2
                retinitis pigmentosa 23 1
                severe congenital encephalopathy due to MECP2 mutation 33
                sideroblastic anemia 1 3
                spastic paraplegia with deafness 0
                syndactyly type 8 1
                syndromic X-linked intellectual disability 17 0
                syndromic X-linked intellectual disability 5 2
                syndromic X-linked intellectual disability Claes-Jensen type 2
                syndromic X-linked intellectual disability Siderius type 1
                syndromic X-linked intellectual disability Snyder type 1
                syndromic X-linked intellectual disability Turner type 4
                syndromic X-linked intellectual disorder Lujan-Fryns-type 1
                syndromic X-linked mental retardation 35 1
paths to the root