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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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 More... RGD:1598655 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,633,501...151,636,000
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,905,096...151,925,322
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,054,547...152,056,757
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069 		JBrowse link
Aland Island eye disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:30718709 NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Ocular albinism, type II
DNA:deletion:exon:		 OMIM
ClinVar
RGD		 PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 More... RGD:13782379 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532 PMID:30718709 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223 		JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy OMIM
ClinVar		 PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 More... NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771 		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 ClinVar
OMIM		 PMID:34326534 PMID:35266071 NCBI chr  X:127,587,401...127,639,063
Ensembl chr  X:127,590,650...127,630,200 		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 chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
Barth syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:1719174 PMID:9345098 PMID:9536098 PMID:11238270 PMID:15793838 More... NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISS OMIM:302060 MouseDO NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743 		JBrowse link
G Mest mesoderm specific transcript ISS OMIM:302060 MouseDO NCBI chr 4:59,354,445...59,364,919
Ensembl chr 4:59,354,447...59,366,145 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 PMID:7616547 More... NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
blue cone monochromacy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type | ClinVar Annotator: match by term: Cone dystrophy 5, X-linked OMIM
ClinVar		 PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 More... NCBI chr  X:151,905,096...151,925,322
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS OMIM
ClinVar		 PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 More... NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127 		JBrowse link
Brunner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maoa monoamine oxidase A ISO ClinVar Annotator: match by term: Brunner syndrome | ClinVar Annotator: match by term: Monoamine oxidase A deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8211186 PMID:9536098 PMID:11700166 PMID:17576681 PMID:24169519 More... NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
CD40 ligand deficiency 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: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G Cd40lg CD40 ligand disease_progression ISO ClinVar Annotator: match by term: Hyper IgM immunodeficiency, X-linked | ClinVar Annotator: match by term: IMMUNODEFICIENCY 3 | ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:mutations:exon, intron:multiple
DNA:missense mutation:exon:p.T169N (526T>A) (human)		 ClinVar
RGD
CTD
OMIM		 PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More... RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841 		JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,430,588...134,486,747
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746 		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 OMIM
ClinVar		 PMID:3856385 PMID:20362274 PMID:20818383 PMID:22019070 PMID:23217327 More... NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 ClinVar PMID:3856385 PMID:20362274 PMID:20818383 PMID:22019070 PMID:23217327 More... NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy OMIM
ClinVar		 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 More... NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		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:21290788 PMID:25741868 More... NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		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:22019070 PMID:25326637 PMID:25583628 PMID:25741868 More... NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		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:22019070 PMID:25326637 PMID:25583628 PMID:25741868 More... NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		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:25135935 PMID:25741868 PMID:28492532 PMID:31036665 NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699 		JBrowse link
congenital disorder of glycosylation Iy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: CDG IY | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y OMIM
ClinVar		 PMID:24218363 PMID:25326635 PMID:25741868 PMID:26264460 NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
congenital nongoitrous hypothyroidism 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9 OMIM
ClinVar		 PMID:25741868 PMID:30061370 NCBI chr  X:105,344,016...105,359,985 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 OMIM
ClinVar		 PMID:11062471 PMID:11062472 PMID:16670814 PMID:17392683 PMID:19578023 More... NCBI chr  X:9,280,864...9,301,900
Ensembl chr  X:9,280,864...9,301,900 		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 OMIM
ClinVar		 PMID:9529339 PMID:9662399 PMID:9662400 PMID:11281458 PMID:12111638 More... NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dent disease		 CTD
ClinVar		 PMID:10561751 PMID:15719255 PMID:15814539 PMID:20804101 PMID:28492532 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		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 2 OMIM
ClinVar		 PMID:7874126 PMID:7915957 PMID:8559248 PMID:8950885 PMID:9062355 More... NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Mir188 microRNA 188 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:15,247,715...15,247,794
Ensembl chr  X:15,247,715...15,247,794 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Nephrolithiasis 2 ClinVar PMID:7874126 PMID:9328929 PMID:15052463 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393 		JBrowse link
Dent Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5b inositol polyphosphate-5-phosphatase B ISO ClinVar Annotator: match by term: Dent disease type 2 ClinVar PMID:28018608 NCBI chr 5:136,996,766...137,061,315
Ensembl chr 5:136,996,686...137,061,315 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Dent disease type 2 OMIM
ClinVar		 PMID:1321346 PMID:15627218 PMID:16381338 PMID:17162149 PMID:17384968 More... NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362 		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 chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193 		JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:107,885,039...107,906,264
Ensembl chr  X:107,885,064...107,893,002 		JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513 		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 | ClinVar Annotator: match by term: X-linked infantile spasms
associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human)		 OMIM
ClinVar
RGD		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 More... RGD:11565846, RGD:11565838 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19811514 PMID:20097664 PMID:21183743 PMID:22249839 PMID:23831250 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 PMID:32820246 PMID:33497533 NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377 		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 chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr 7:110,983,322...111,006,926
Ensembl chr 7:110,983,318...111,006,794 		JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763 		JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:30097719 PMID:32909139 NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974 		JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr19:11,034,874...11,192,502
Ensembl chr19:11,035,956...11,192,493 		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 chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr 2:49,495,771...49,899,702
Ensembl chr 2:49,495,771...49,899,774 		JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588 		JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 More... NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		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:25741868 PMID:26467025 More... NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128 		JBrowse link
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:33189936 NCBI chr 3:136,132,248...136,179,225
Ensembl chr 3:136,133,428...136,179,345 		JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr 1:203,726,420...203,842,301
Ensembl chr 1:203,735,753...203,842,297 		JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,236,905...13,240,001
Ensembl chr10:13,236,905...13,240,001 		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 chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Pcyt1b phosphate cytidylyltransferase 1B, choline ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr  X:58,378,090...58,471,623
Ensembl chr  X:58,378,116...58,468,935 		JBrowse link
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr  X:58,477,471...58,553,932
Ensembl chr  X:58,486,554...58,553,557 		JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858 		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 chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 3:122,059,968...122,772,896
Ensembl chr 3:122,060,031...122,772,869 		JBrowse link
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr  X:58,034,617...58,348,612
Ensembl chr  X:58,034,619...58,348,536 		JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030 		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 chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858 		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:20522430 PMID:22151702 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292 		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 chr 3:56,098,080...56,192,188
Ensembl chr 3:56,097,269...56,192,100 		JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810 		JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:30,192,629...30,269,277
Ensembl chr11:30,192,629...30,269,220 		JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904 		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 PMID:9536098 PMID:10574461 PMID:10741954 PMID:16199547 PMID:16855591 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		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 chr10:13,246,032...13,251,196
Ensembl chr10:13,246,037...13,251,124 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		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 spasms ClinVar PMID:9536098 PMID:11572989 PMID:16199547 PMID:17576681 PMID:20480411 More... NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391 		JBrowse link
developmental and epileptic encephalopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 | ClinVar Annotator: match by term: HYPEREKPLEXIA AND EPILEPSY OMIM
ClinVar		 PMID:9536098 PMID:15215304 PMID:17576681 PMID:17893116 PMID:18414213 More... NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513 		JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis OMIM
ClinVar		 PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620 		JBrowse link
Duchenne muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap6 A-kinase anchoring protein 6 ISO mRNA:decreased expression:heart RGD PMID:14511675 RGD:14349026 NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cd4 Cd4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 4:157,668,878...157,695,366 JBrowse link
G Ctss cathepsin S ISS OMIM:310200 MouseDO NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483 		JBrowse link
G Dag1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle
protein:decreased expression:skeletal muscle		 RGD PMID:15833425 PMID:7630355 PMID:11445638 RGD:11073211, RGD:11552581, RGD:11537476 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Dcaf8l1 DDB1 and CUL4 associated factor 8-like 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:28492532 NCBI chr  X:54,488,494...54,491,514
Ensembl chr  X:54,488,781...54,491,141 		JBrowse link
G Dmd dystrophin treatment ISO
IMP		 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
CTD Direct Evidence: marker/mechanism
mRNA:decreased stability:muscle		 ClinVar
CTD
OMIM
RGD		 PMID:1301174 PMID:1301934 PMID:1307253 PMID:1363782 PMID:1383546 More... RGD:1580859, RGD:12880034, RGD:12880014, RGD:12880007, RGD:11040981, RGD:12879862, RGD:737706 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang IMP RGD PMID:25310701 RGD:12880034
G Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi IMP RGD PMID:25005781 RGD:11040981
G Fthl17e ferritin, heavy polypeptide-like 17, member E ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:28492532 NCBI chr  X:49,595,422...49,596,399
Ensembl chr  X:49,595,718...49,596,266 		JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:28492532 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631 		JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:28492532 NCBI chr  X:51,371,969...52,876,726
Ensembl chr  X:51,378,215...52,876,772 		JBrowse link
G Itga7 integrin subunit alpha 7 treatment ISO RGD PMID:23319059 RGD:13601981 NCBI chr 7:1,360,125...1,388,886
Ensembl chr 7:1,359,940...1,388,450 		JBrowse link
G LOC102551929 melanoma-associated antigen G1-like ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:202,810,079...202,811,086
Ensembl chr 1:202,810,179...202,811,167 		JBrowse link
G Mageb1 MAGE family member B1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:28492532 NCBI chr  X:50,915,884...50,921,863 JBrowse link
G Mageb2 MAGE family member B2 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:28492532 NCBI chr  X:50,827,538...50,833,272
Ensembl chr  X:50,827,563...50,833,151 		JBrowse link
G Mageb3 MAGE family member B3 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:28492532 NCBI chr  X:50,865,484...50,866,479
Ensembl chr  X:50,865,484...50,866,479 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:23977226 RGD:13204809 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:9542584 RGD:13825135 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:28492532 NCBI chr  X:50,756,886...50,761,014
Ensembl chr  X:50,756,886...50,761,011 		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 chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO RGD PMID:22934738 RGD:12910703 NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Postn periostin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
G Stx1b syntaxin 1B ISO RGD PMID:26604869 RGD:12903957 NCBI chr 1:182,415,544...182,434,385
Ensembl chr 1:182,415,546...182,441,280 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO RGD PMID:26604869 RGD:12903957 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369 		JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:28492532 NCBI chr  X:49,972,414...50,044,658
Ensembl chr  X:49,972,330...50,042,056 		JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:28492532 NCBI chr  X:50,403,962...50,423,141
Ensembl chr  X:50,361,248...50,423,269 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15616792 RGD:1580161 NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611 		JBrowse link
G Utrn utrophin ISO RGD PMID:9288751 RGD:737706 NCBI chr 1:6,720,854...7,224,313
Ensembl chr 1:6,722,594...7,224,313 		JBrowse link
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave 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: DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE ClinVar PMID:8817332 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		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 ClinVar
OMIM
RGD		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:1598881 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:62,224,763...62,269,344
Ensembl chr  X:62,228,229...62,269,268 		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 chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		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
DNA:mutation:splicing site:		 OMIM
ClinVar
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		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 ISO ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2
DNA:missense mutation: :p.D122V (human)		 OMIM
ClinVar
RGD		 PMID:12717434 PMID:13229969 PMID:18391077 PMID:25741868 PMID:31064749 More... RGD:11062141 NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841 		JBrowse link
factor VIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C5 complement C5 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:11776297 RGD:11352263 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cfb complement factor B ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfp complement factor properdin ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr  X:1,162,014...1,167,576
Ensembl chr  X:1,161,979...1,167,573 		JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F8 coagulation factor VIII treatment ISO
IMP
IAGP		 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
DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations, frameshift mutation:exon:multiple		 ClinVar
CTD
OMIM
RGD		 PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More... RGD:1582357, RGD:150520060, RGD:7245964, RGD:11530071, RGD:10450758, RGD:10450757 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage treatment IMP RGD PMID:24931420 PMID:31899798 RGD:11530071, RGD:150520060
G F8m1Ycb coagulation factor VIII, procoagulant component; mutation 1, Ycb IAGP DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) RGD PMID:20626616 RGD:7245964
G F8em1Mcwi coagulation factor VIII, procoagulant component; CRISPR/Cas9 induced mutant1, Mcwi treatment IMP RGD PMID:31899798 RGD:150520060
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar NCBI chr  X:150,957,357...150,958,871
Ensembl chr  X:150,916,679...150,960,168 		JBrowse link
G F9 coagulation factor IX ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital		 CTD
ClinVar		 PMID:1346975 PMID:1680287 PMID:1864609 PMID:1873221 PMID:1968152 More... NCBI chr  X:138,352,334...138,396,835
Ensembl chr  X:138,352,298...138,396,835 		JBrowse link
G Fcgr2a Fc gamma receptor 2A susceptibility ISO DNA:SNP:cds:p.R131H (human) RGD PMID:24916518 RGD:11040767 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Hemophilia A ClinVar PMID:2563431 NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO DNA:repeat:promoter RGD PMID:23716558 RGD:10755564 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Ifng interferon gamma treatment ISO DNA:SNP: :+874 A>T (human) RGD PMID:25930091 RGD:11055683 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
no_association		 ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)		 RGD PMID:22411997 PMID:22411997 RGD:10449409, RGD:10449409 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Plat plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO RGD PMID:9157572 RGD:11041784 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:24263002 PMID:24687919 PMID:22355108 RGD:11060141, RGD:11060256, RGD:11060147 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO DNA:polymorphism: :869T>C(rs1982037)(human) RGD PMID:25930091 RGD:11055683 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:25955153 RGD:11073776 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		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 chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		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 chr18:59,508,996...59,530,873
Ensembl chr18:59,508,996...59,530,851 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2 ISO ClinVar Annotator: match by term: FMFD I ClinVar PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749 NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841 		JBrowse link
Fanconi anemia complementation group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B OMIM
ClinVar		 PMID:8368240 PMID:15502827 PMID:16679491 PMID:17924555 PMID:21910217 More... NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
FG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19200522 RGD:11576290 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694 		JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
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
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human)		 CTD
ClinVar
RGD		 PMID:6711603 PMID:8279489 PMID:10405444 PMID:10982179 PMID:16199547 More... RGD:12910952, RGD:12910948 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
FG Syndrome 1 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: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar		 PMID:6711603 PMID:8279489 PMID:9286458 PMID:9536098 PMID:10405444 More... NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876 		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:16299064 PMID:17632775 PMID:25167861 PMID:25741868 PMID:28133863 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		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:19200522 PMID:19377476 PMID:20029458 PMID:25741868 More... NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694 		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
DNA:missense mutations, deletions:cds:multiple (human)		 OMIM
ClinVar
RGD		 PMID:9071288 PMID:12612583 PMID:15523633 PMID:15917206 PMID:16596676 More... RGD:11063279 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		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:28805828 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
glycogen storage disease IXa 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
IAGP		 ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2
DNA:mutations:multiple
DNA:missense mutations:multiple 		OMIM
ClinVar
RGD		 PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:8733133 More... RGD:26884355, RGD:26884354, RGD:26884353 NCBI chr  X:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466 		JBrowse link
glycogen storage disease IXd term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXd OMIM
ClinVar		 PMID:2252364 PMID:7874115 PMID:8145916 PMID:9731190 PMID:12825073 More... NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
hemophilia B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11c ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:138,564,459...138,752,116
Ensembl chr  X:138,565,836...138,751,204 		JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		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 chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		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
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:P.G396R,K411X,I397T(human)
DNA:nonsense mutation:cds:p.R338X (human)		 ClinVar
CTD
OMIM
RGD		 PMID:734633 PMID:884315 PMID:1346077 PMID:1346975 PMID:1357229 More... RGD:9685705, RGD:10450764, RGD:10450762, RGD:10450761, RGD:10450760, RGD:10450759 NCBI chr  X:138,352,334...138,396,835
Ensembl chr  X:138,352,298...138,396,835 		JBrowse link
G LOC688842 hypothetical protein LOC688842 ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:138,779,374...138,819,595
Ensembl chr  X:138,779,382...138,785,707 		JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:138,414,077...138,514,828
Ensembl chr  X:138,409,256...138,514,446 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:139,308,608...139,310,734
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
hereditary spastic paraplegia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:100,082,562...100,093,658
Ensembl chr  X:100,082,404...100,093,728 		JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED OMIM
ClinVar		 PMID:1720927 PMID:2479017 PMID:2480601 PMID:7522741 PMID:7531827 More... NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED ClinVar PMID:2479017 PMID:2480601 PMID:7522741 PMID:7531827 PMID:7541901 More... NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:25741868 NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:100,058,485...100,060,439
Ensembl chr  X:100,058,132...100,060,551 		JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:100,010,675...100,012,637
Ensembl chr  X:100,010,690...100,012,654 		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:28492532 NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531 		JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423 		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...
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 chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
G Syt6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:191,093,009...191,152,283
Ensembl chr 2:191,093,007...191,149,956 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome		 CTD
ClinVar		 PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:28166811 PMID:28492532 NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984 		JBrowse link
HRPT-related hyperuricemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh16a1 aldehyde dehydrogenase 16 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chr 1:95,626,727...95,639,808
Ensembl chr 1:95,613,558...95,640,131 		JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,468,141...132,478,616
Ensembl chr  X:132,468,213...132,478,431 		JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:131,868,983...132,236,837
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: HPRT1-Related Disorder | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1551676 PMID:1781350 PMID:1937471 PMID:2071157 PMID:2246854 More... NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Mir106a microRNA 106a ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,422,584...132,422,661
Ensembl chr  X:132,422,584...132,422,661 		JBrowse link
G Mir19b2 microRNA 19b-2 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,422,072...132,422,167
Ensembl chr  X:132,422,072...132,422,167 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127 		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: Hypogonadotropic hypogonadism 1 with or without anosmia OMIM
ClinVar		 PMID:1518845 PMID:1594017 PMID:1639422 PMID:1904396 PMID:8504298 More... NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801 		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 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		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 chr  X:37,410,914...37,461,130
Ensembl chr  X:37,410,811...37,464,430 		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:32497488 PMID:32902915 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		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 ISO ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar NCBI chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331 		JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192 		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 chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376 		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:30086211 NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139 		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 Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:28492532 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:28492532 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:28492532 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) RGD PMID:29058101 RGD:40886273 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
G Foxp3 forkhead box P3 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 PMID:11137993 More... RGD:1598959 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		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:28492532 NCBI chr  X:14,791,601...14,806,384
Ensembl chr  X:14,791,610...14,806,384 		JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:28492532 NCBI chr  X:14,824,114...14,832,466
Ensembl chr  X:14,824,188...14,831,045 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:28492532 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:28492532 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:28492532 NCBI chr  X:14,834,249...14,837,648
Ensembl chr  X:14,834,231...14,838,514 		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:28492532 NCBI chr  X:14,915,740...14,945,249
Ensembl chr  X:14,929,323...14,945,193 		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:28492532 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218 		JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:28492532 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745 		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:28492532 NCBI chr  X:15,123,642...15,126,855
Ensembl chr  X:15,124,596...15,125,912 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:28492532 NCBI chr  X:14,776,280...14,782,197
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
immunodeficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,633,501...151,636,000
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex, subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160 		JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,351,897...151,355,822
Ensembl chr  X:151,351,897...151,355,821 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:150,957,357...150,958,871
Ensembl chr  X:150,916,679...150,960,168 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:82,362,633...82,362,983
Ensembl chr  X:82,362,633...82,362,983 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,154,979...151,174,441
Ensembl chr  X:151,154,979...151,180,577 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 | ClinVar Annotator: match by term: Immunodeficiency without anhidrotic ectodermal dysplasia OMIM
ClinVar		 PMID:11590134 PMID:12459250 PMID:15229184 PMID:15356572 PMID:15577852 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Il9r interleukin 9 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr10:15,431,706...15,444,144
Ensembl chr10:15,431,706...15,441,990 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr18:126,189...130,123 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,905,096...151,925,322
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,369,406...151,373,508
Ensembl chr  X:151,369,410...151,373,446 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,054,547...152,056,757
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Spry3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr12:16,663,188...16,673,124
Ensembl chr12:16,663,389...16,672,531 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,151,862...151,153,470
Ensembl chr  X:151,151,864...151,153,479 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069 		JBrowse link
G Vamp7 vesicle-associated membrane protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr12:16,728,477...16,764,261
Ensembl chr12:16,728,524...16,764,097 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
immunodeficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency OMIM
ClinVar		 PMID:17293536 PMID:21278736 PMID:25741868 PMID:28492532 NCBI chr  X:13,360,583...13,392,517
Ensembl chr  X:13,359,430...13,392,586 		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:29192153 PMID:29396028 More... NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034 		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 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:27405666 PMID:28378256 PMID:28492532 More... NCBI chr  X:60,996,043...61,064,011
Ensembl chr  X:60,995,951...61,065,628 		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:29636373 NCBI chr  X:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747 		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 Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency OMIM
ClinVar		 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 More... NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:11956200 PMID:21984432 PMID:22736418 PMID:28492532 NCBI chr  X:97,717,932...97,721,918
Ensembl chr  X:97,717,920...97,721,960 		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
DNA:duplication:exon:2122-2125dup (human)
DNA:deletions:exon:c.2841_2847del, c.2767del (human)		 OMIM
ClinVar
RGD		 PMID:16783569 PMID:18546297 PMID:19800048 PMID:22353940 PMID:24884629 More... RGD:11535965, RGD:11535963 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
Keipert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: Keipert syndrome OMIM
ClinVar		 PMID:4708024 PMID:25741868 PMID:30982611 NCBI chr  X:131,644,711...131,755,349
Ensembl chr  X:131,644,704...131,755,284 		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 DNA:mutation,repeats:cds:
ClinVar Annotator: match by term: Kennedy disease
DNA:repeats:exon		 ClinVar
OMIM
RGD		 PMID:25741868 PMID:2062380 PMID:8469342 PMID:26942099 RGD:734599, RGD:11576241, RGD:11576229 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		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
DNA:deletion,insertion,duplication:cds:
DNA:mutations:multiple:		 OMIM
ClinVar
RGD		 PMID:1434518 PMID:1618489 PMID:1639405 PMID:1781350 PMID:1840549 More... RGD:13463104, RGD:13462064 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Xdh xanthine dehydrogenase treatment ISO RGD PMID:17697859 RGD:7247657 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		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 DNA,mRNA:missense mutations,decreased expression:cds:
ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant		 ClinVar
RGD		 PMID:2358296 PMID:20981450 PMID:28492532 PMID:24940672 RGD:13463104 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154 		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:8559248 PMID:9062355 PMID:11136179 PMID:15719255 PMID:15895257 More... NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
MASA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132 		JBrowse link
G L1cam L1 cell adhesion molecule ISO DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel (human)
ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome
DNA:deletion:exon:
DNA:mutation:cds:924C>T(human)
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:1303258 PMID:1870106 PMID:3460961 PMID:7493978 PMID:7562969 More... RGD:6483061, RGD:11570406, RGD:11064095 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243 		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 OMIM
ClinVar		 PMID:22284829 PMID:25093588 PMID:25712132 PMID:25741868 PMID:26938784 NCBI chr  X:106,889,125...106,992,937
Ensembl chr  X:106,889,125...106,992,921 		JBrowse link
MEHMO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: MEHMO syndrome OMIM
ClinVar		 PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 NCBI chr  X:58,916,513...58,939,923
Ensembl chr  X:58,917,490...58,940,686 		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 chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		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 NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142 		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:17576681 PMID:18414213 PMID:23000143 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540 		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 OMIM NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		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: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis OMIM
ClinVar		 PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 More... NCBI chr  X:106,465,982...106,571,382
Ensembl chr  X:106,466,699...106,571,487 		JBrowse link
G Gng5-ps5 G protein subunit gamma 5, pseudogene 5 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr13:66,187,785...66,188,335 JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:106,708,454...106,720,607
Ensembl chr  X:106,714,868...106,719,794 		JBrowse link
G Tmem164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar PMID:21681106 PMID:27811305 PMID:28089922 NCBI chr  X:106,288,019...106,448,642
Ensembl chr  X:106,289,371...106,448,640 		JBrowse link
Mullegama-Klein-Martinez syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stag2 stromal antigen 2 ISO ClinVar Annotator: match by term: Mullegama-Klein-Martinez syndrome | ClinVar Annotator: match by term: STAG2-related disorder OMIM
ClinVar		 PMID:25741868 PMID:28296084 PMID:28492532 PMID:29263825 PMID:30158690 More... NCBI chr  X:120,974,687...121,105,677
Ensembl chr  X:120,974,857...121,105,677 		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 Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar		 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 PMID:9536098 More... NCBI chr  X:30,043,033...30,055,861
Ensembl chr  X:30,042,343...30,055,804 		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:8104196 PMID:9711877 PMID:11134505 PMID:15872203 PMID:20159941 More... NCBI chr  X:151,633,501...151,636,000
Ensembl chr  X:151,633,522...151,635,989 		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:25741868 NCBI chr  X:65,721,724...65,824,151
Ensembl chr  X:65,721,779...65,824,139 		JBrowse link
non-syndromic X-linked intellectual disability 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid2 midline 2 ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 101 OMIM
ClinVar		 PMID:24115387 PMID:25741868 NCBI chr  X:104,354,692...104,456,757
Ensembl chr  X:104,355,316...104,453,473 		JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 101 ClinVar NCBI chr  X:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711 		JBrowse link
non-syndromic X-linked intellectual disability 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl15 kelch-like family member 15 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103 OMIM
ClinVar		 PMID:24817631 PMID:25644381 PMID:25741868 NCBI chr  X:58,994,726...59,050,207
Ensembl chr  X:58,995,461...59,046,069 		JBrowse link
non-syndromic X-linked intellectual disability 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 ClinVar NCBI chr  X:24,953,464...25,490,003
Ensembl chr  X:24,953,464...25,488,663 		JBrowse link
G Frmpd4 FERM and PDZ domain containing 4 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 OMIM
ClinVar		 PMID:25644381 PMID:25741868 PMID:26394714 PMID:28492532 PMID:29267967 NCBI chr  X:25,853,849...26,814,642
Ensembl chr  X:25,853,934...26,814,637 		JBrowse link
G Msl3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 ClinVar NCBI chr  X:25,638,029...25,655,698
Ensembl chr  X:25,637,804...25,655,697 		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 NCBI chr  X:15,123,642...15,126,855
Ensembl chr  X:15,124,596...15,125,912 		JBrowse link
non-syndromic X-linked intellectual disability 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21 | ClinVar Annotator: match by term: Mental retardation, X-linked 21/34 OMIM
ClinVar		 PMID:8230164 PMID:10471494 PMID:16470793 PMID:18801879 PMID:19012350 More... NCBI chr  X:51,371,969...52,876,726
Ensembl chr  X:51,378,215...52,876,772 		JBrowse link
non-syndromic X-linked intellectual disability 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 47 OMIM
ClinVar		 PMID:8826460 PMID:9332663 PMID:9731525 PMID:10946356 PMID:12884430 More... NCBI chr  X:107,116,308...107,374,342
Ensembl chr  X:107,260,898...107,368,314 		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 OMIM
ClinVar		 PMID:11017088 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
non-syndromic X-linked intellectual disability 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspan7 tetraspanin 7 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58 OMIM
ClinVar		 PMID:10655063 PMID:12376945 PMID:14735593 PMID:25741868 PMID:28492532 NCBI chr  X:12,208,783...12,306,160
Ensembl chr  X:12,208,783...12,306,131 		JBrowse link
non-syndromic X-linked intellectual disability 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO OMIM NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236 		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:25741868 NCBI chr  X:14,243,684...14,256,555
Ensembl chr  X:14,244,050...14,252,030 		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: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 90 OMIM
ClinVar		 PMID:15185169 PMID:23020937 PMID:24721225 PMID:25741868 NCBI chr  X:65,859,653...65,911,887
Ensembl chr  X:65,860,172...65,910,322 		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: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY OMIM
ClinVar		 PMID:7943039 PMID:17668385 PMID:18414213 PMID:25326637 PMID:25741868 More... NCBI chr  X:73,768,343...73,861,643
Ensembl chr  X:73,774,340...73,861,622 		JBrowse link
non-syndromic X-linked intellectual disability 96 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syp synaptophysin ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96 OMIM
ClinVar		 PMID:19377476 PMID:23966691 PMID:25741868 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745 		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 Ntf4 neurotrophin 4 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 ClinVar PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533 NCBI chr 1:95,893,560...95,896,391
Ensembl chr 1:95,893,457...95,897,243 		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 disorders OMIM
ClinVar		 PMID:19377476 PMID:24607389 PMID:25741868 PMID:26833328 PMID:28492532 More... NCBI chr  X:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711 		JBrowse link
non-syndromic X-linked intellectual disability ARX-related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 87 | ClinVar Annotator: match by term: Mental retardation, X-linked 52 OMIM
ClinVar		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142 		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 ISS
ISO		 OMIM:310600
ClinVar Annotator: match by term: Atrophia bulborum hereditaria		 MouseDO
ClinVar		 PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:143,280,065...143,288,799
Ensembl chr 1:143,280,065...143,285,724 		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:7627181 PMID:7814011 More... NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934 		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 chr 1:143,402,725...143,422,182
Ensembl chr 1:143,401,396...143,422,091 		JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246 		JBrowse link
nuclear type mitochondrial complex I deficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 OMIM
ClinVar		 PMID:17262856 PMID:19185523 PMID:21596602 PMID:23871722 PMID:25741868 More... NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633 		JBrowse link
nuclear type mitochondrial complex I deficiency 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 OMIM
ClinVar		 PMID:25741868 PMID:25772934 PMID:26741492 PMID:27488349 PMID:28050600 More... NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062 		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: Occipital horn syndrome
DNA:snp:intron:c.2553+3A>C (mouse)
DNA:transversion:intron:g.IVS10+3A>T (human)		 OMIM
ClinVar
RGD		 PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:9880610 More... RGD:11340205, RGD:11252184 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		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 chr  X:125,584,102...125,585,455
Ensembl chr  X:125,584,065...125,585,457 		JBrowse link
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:123,695,286...123,698,905
Ensembl chr  X:123,695,286...123,698,905 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Lowe syndrome | ClinVar Annotator: match by term: Oculocerebrorenal Syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8504307 PMID:9199559 PMID:9430698 PMID:9536098 PMID:9632163 More... NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
G Prr32 proline rich 32 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:123,977,960...123,979,917
Ensembl chr  X:123,977,985...123,979,942 		JBrowse link
G Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:126,980,201...127,066,385
Ensembl chr  X:126,994,947...127,066,347 		JBrowse link
Opitz GBBB syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I OMIM
ClinVar		 PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 More... NCBI chr  X:24,116,674...24,491,205
Ensembl chr  X:24,120,293...24,248,353 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS ClinVar PMID:25741868 PMID:30472488 NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665 		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 ClinVar
OMIM		 PMID:27380894 NCBI chr  X:37,410,914...37,461,130
Ensembl chr  X:37,410,811...37,464,430 		JBrowse link
Paganini-Miozzo syndrome term browser