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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.


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adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 susceptibility ISO ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE
ClinVar Annotator: match by term: Adrenomyeloneuropathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300100
ClinVar Annotator: match by null
ClinVar
CTD
OMIM
PMID:1481812, PMID:6728562, PMID:6795626, PMID:7202134, PMID:7561948, PMID:7581394, PMID:7668254, PMID:7677014, PMID:7717396, PMID:7811247, PMID:7825602, PMID:7849718, PMID:7849723, PMID:7860075, PMID:7894167, PMID:7904210, PMID:7998779, PMID:8040304, PMID:8048932, PMID:8353949, PMID:8441467, PMID:8566952, PMID:8621506, PMID:8651290, PMID:8773611, PMID:8892025, PMID:9051655, PMID:9088111, PMID:9195223, PMID:9212180, PMID:9242200, PMID:9425230, PMID:9452087, PMID:9553942, PMID:9556301, PMID:9894883, PMID:10190819, PMID:10227685, PMID:10480364, PMID:10551832, PMID:10737980, PMID:10815658, PMID:10980309, PMID:10980539, PMID:11102997, PMID:11220738, PMID:11248239, PMID:11310629, PMID:11330045, PMID:11336405, PMID:11438993, PMID:11739809, PMID:11748843, PMID:11798073, PMID:11810273, PMID:12175782, PMID:12530690, PMID:12624723, PMID:12913200, PMID:14713218, PMID:14767898, PMID:15032602, PMID:15192815, PMID:15284851, PMID:15333254, PMID:15388659, PMID:15564782, PMID:15643618, PMID:15800013, PMID:15811009, PMID:15812458, PMID:15878823, PMID:16018167, PMID:16023551, PMID:16087056, PMID:16319717, PMID:16401743, PMID:16415970, PMID:16949688, PMID:16996397, PMID:17029209, PMID:17285533, PMID:17498713, PMID:17504626, PMID:17542813, PMID:17602313, PMID:17990484, PMID:18206987, PMID:18306728, PMID:18973459, PMID:19129531, PMID:19496984, PMID:19660195, PMID:19963315, PMID:20008255, PMID:20195870, PMID:20301491, PMID:20455653, PMID:20626745, PMID:20661612, PMID:20800589, PMID:20849526, PMID:20859061, PMID:21068741, PMID:21300044, PMID:21476988, PMID:21478203, PMID:21488864, PMID:21586746, PMID:21700483, PMID:21889498, PMID:21907609, PMID:21966424, PMID:22057157, PMID:22176151, PMID:22198747, PMID:22280810, PMID:22366764, PMID:22479560, PMID:22483867, PMID:22914231, PMID:23009600, PMID:23154058, PMID:23300730, PMID:23419472, PMID:23430809, PMID:23469258, PMID:23566833, PMID:23566848, PMID:23664929, PMID:23671276, PMID:23712774, PMID:23768953, PMID:23835273, PMID:23926373, PMID:24154795, PMID:24480483, PMID:24685009, PMID:24719134, PMID:24722136, PMID:24788897, PMID:25275259, PMID:25324868, PMID:25741868, PMID:26227820, PMID:26260157, PMID:26388597, PMID:26454440, PMID:26467025, PMID:26523528, PMID:26609365, PMID:27067449, PMID:27084228, PMID:27766264, PMID:27779215, PMID:28456143, PMID:28492532, PMID:28503596, PMID:28953922, PMID:29056270, PMID:29284317, PMID:29443243, PMID:30311386, PMID:30544401, PMID:30564185, PMID:30902905, PMID:31074578, PMID:32207279, PMID:8048932 RGD:1598655 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 8:59,184,111...59,240,133
Ensembl chr 8:59,184,113...59,239,954
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,873,094...156,888,762
Ensembl chr  X:156,873,849...156,888,761
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,407,973...156,415,053
Ensembl chr  X:156,407,937...156,415,145
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:148,421,627...148,422,921
Ensembl chr  X:148,421,627...148,422,921
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,319,687...156,328,974
Ensembl chr  X:156,319,687...156,328,309
JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,392,646...156,399,763
Ensembl chr  X:156,392,630...156,399,760
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 8:5,734,348...5,742,243
Ensembl chr 8:5,734,348...5,742,243
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mpp1 membrane palmitoylated protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr 1:148,450,213...148,458,945 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,863,655...156,868,950
Ensembl chr  X:156,863,754...156,868,950
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,569,683...156,589,907
Ensembl chr  X:156,569,683...156,589,907
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,963,343...156,993,591
Ensembl chr  X:156,963,870...156,993,591
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,363,400...156,379,433
Ensembl chr  X:156,363,405...156,379,189
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,438,251...156,440,461
Ensembl chr  X:156,438,251...156,440,461
JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,335,385...156,340,256
Ensembl chr  X:156,336,450...156,340,234
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,008,773...157,014,342
Ensembl chr  X:157,008,824...157,013,443
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,540,442...156,569,272
Ensembl chr  X:156,552,528...156,569,249
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,507,797...156,540,733
Ensembl chr  X:156,507,797...156,540,733
JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,340,919...156,343,771
Ensembl chr  X:156,340,925...156,343,777
JBrowse link
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO DNA:duplication:cds (human)
ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset
ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant
ClinVar
OMIM
PMID:16951681, PMID:19151023, PMID:21225301, PMID:21909802, PMID:23649844, PMID:25741868, PMID:28492532, PMID:16951681 RGD:10044243 NCBI chr18:51,785,111...51,822,264
Ensembl chr18:51,785,111...51,822,264
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 1:219,383,452...219,388,009
Ensembl chr 1:219,383,452...219,388,009
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
PMID:14230113, PMID:17525176, PMID:25741868, PMID:30311386, PMID:30718709, PMID:17525176 RGD:13782379 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532, PMID:30718709 NCBI chr 5:79,235,541...79,317,206
Ensembl chr 5:79,234,950...79,317,206
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: MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
ClinVar Annotator: match by OMIM:300523
OMIM
ClinVar
PMID:1605231, PMID:2393019, PMID:8484404, PMID:12871948, PMID:14661163, PMID:15889350, PMID:15980113, PMID:18187543, PMID:18398436, PMID:18414213, PMID:20628049, PMID:20655035, PMID:21098685, PMID:21896621, PMID:22805248, PMID:23550058, PMID:23568789, PMID:24265446, PMID:24629861, PMID:24665922, PMID:24721225, PMID:25167861, PMID:25527620, PMID:25644381, PMID:25741868, PMID:27212794, PMID:27672545, PMID:28492532 NCBI chr  X:74,578,600...74,706,068
Ensembl chr  X:74,577,131...74,706,214
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 chr18:367,862...399,242
Ensembl chr18:367,862...399,242
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: Barth syndrome
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar PMID:11238270, PMID:15793838, PMID:19396829, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066
JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISS OMIM:302060 MouseDO NCBI chr 3:147,042,944...147,062,725
Ensembl chr 3:147,042,944...147,062,724
JBrowse link
G Mest mesoderm specific transcript ISS OMIM:302060 MouseDO NCBI chr 4:58,052,786...58,063,227
Ensembl chr 4:58,053,041...58,063,138
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2
ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria
ClinVar Annotator: match by term: Barth syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:302060
OMIM
ClinVar
CTD
PMID:1719174, PMID:1998334, PMID:4685904, PMID:7616547, PMID:8042670, PMID:8434619, PMID:8630491, PMID:9332651, PMID:9345098, PMID:9382096, PMID:9382097, PMID:11238270, PMID:11735032, PMID:12032589, PMID:12468278, PMID:12930833, PMID:15098233, PMID:15793838, PMID:16427346, PMID:16548007, PMID:16873891, PMID:16880272, PMID:17394203, PMID:18430085, PMID:19396829, PMID:19438153, PMID:19619503, PMID:19648820, PMID:19700766, PMID:20530761, PMID:20812380, PMID:21300850, PMID:22382802, PMID:23361305, PMID:23409742, PMID:23656970, PMID:24033266, PMID:24342716, PMID:24887148, PMID:25185984, PMID:25741868, PMID:25941633, PMID:26350513, PMID:26724946, PMID:26845103, PMID:28123175, PMID:28183324, PMID:28492532, PMID:29077208, PMID:29089047, PMID:29247119, PMID:31333075, PMID:31568572 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
Benign Pseudohypertrophic Muscular Dystrophy 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: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:7881286, PMID:17259292, PMID:19937601, PMID:23757202, PMID:24033266, PMID:25447171, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:20400443, PMID:21378009, PMID:23861362, PMID:24033266, PMID:25650408, PMID:25676813, PMID:25741868, PMID:27930701, PMID:28166282, PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:25741868 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
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: Blue cone monochromacy
ClinVar Annotator: match by term: Cone dystrophy 5, X-linked
ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY
OMIM
ClinVar
PMID:1302020, PMID:2788922, PMID:8666378, PMID:11772996, PMID:15094734, PMID:19421413, PMID:20579627 NCBI chr  X:156,569,683...156,589,907
Ensembl chr  X:156,569,683...156,589,907
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 OMIM:301900
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12415272, PMID:13871358, PMID:15241480, PMID:15466013, PMID:15994862, PMID:18414213, PMID:23906836, PMID:24728327, PMID:25741868, PMID:25741869, PMID:27633282, PMID:28492532 NCBI chr  X:158,698,353...158,739,855
Ensembl chr  X:158,698,356...158,739,838
Ensembl chr  X:158,698,356...158,739,838
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: Monoamine oxidase A deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BRUNNER SYNDROME
ClinVar Annotator: match by OMIM:300615
OMIM
ClinVar
CTD
PMID:8211186, PMID:11700166, PMID:24169519, PMID:25741868, PMID:25807999, PMID:28492532 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40lg CD40 ligand disease_progression ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:308230
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, PMID:7679801, PMID:7906987, PMID:7916370, PMID:8094231, PMID:8550833, PMID:8589998, PMID:8889581, PMID:9746782, PMID:10366125, PMID:10484640, PMID:10559240, PMID:10651941, PMID:11158612, PMID:14641931, PMID:15358621, PMID:15611226, PMID:15623492, PMID:15924140, PMID:16019685, PMID:16169277, PMID:16509032, PMID:17146684, PMID:17351759, PMID:18805740, PMID:18955577, PMID:19575287, PMID:20301576, PMID:20591076, PMID:20625427, PMID:20652909, PMID:20981468, PMID:21543760, PMID:21841160, PMID:22750225, PMID:22928961, PMID:22963373, PMID:23622016, PMID:24402618, PMID:25541662, PMID:25741868, PMID:27324886, PMID:28492532, PMID:29077208, PMID:21841160, PMID:17553565, PMID:15358621, PMID:16508335 RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
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: Cowchock syndrome
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA
OMIM
ClinVar
PMID:3856385, PMID:20362274, PMID:20818383, PMID:22019070, PMID:23217327, PMID:23806086, PMID:24088041, PMID:25583628, PMID:25590979, PMID:25741868, PMID:25934856, PMID:25986071, PMID:26173962, PMID:26257172, PMID:27102849, PMID:28492532, PMID:28842795, PMID:28967629, PMID:31523922 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation
ClinVar Annotator: match by term: Cowchock syndrome
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA
ClinVar PMID:3856385, PMID:20362274, PMID:20818383, PMID:22019070, PMID:23217327, PMID:23806086, PMID:24088041, PMID:25583628, PMID:25590979, PMID:25741868, PMID:25934856, PMID:25986071, PMID:26173962, PMID:26257172, PMID:27102849, PMID:28492532, PMID:28842795, PMID:28967629, PMID:31523922 NCBI chr  X:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203
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 NEUROPATHY, X-LINKED RECESSIVE, 5
ClinVar Annotator: match by OMIM:311070
OMIM
ClinVar
PMID:17701900, PMID:24285972, PMID:25182139, PMID:25491489, PMID:28492532 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
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 OMIM:300831 OMIM
ClinVar
PMID:19377476, PMID:21129721 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
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 null
OMIM
ClinVar
PMID:20362274, PMID:22019070, PMID:25583628, PMID:25741868, PMID:26173962, PMID:26467025, PMID:28492532 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 ClinVar PMID:20362274, PMID:22019070, PMID:25583628, PMID:25741868, PMID:26173962, PMID:26467025, PMID:28492532 NCBI chr  X:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203
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:31036665 NCBI chr  X:77,023,423...77,061,603
Ensembl chr  X:77,020,402...77,061,667
JBrowse link
congenital disorder of glycosylation Iy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y OMIM
ClinVar
PMID:24218363, PMID:25326635, PMID:25741868, PMID:26264460 NCBI chr  X:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650
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:30061370 NCBI chr  X:113,003,824...113,018,088 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, type 1A
ClinVar Annotator: match by OMIM:310500
OMIM
ClinVar
PMID:11062471, PMID:11062472, PMID:16670814, PMID:17392683, PMID:23406521, PMID:28492532 NCBI chr  X:10,197,547...10,218,583
Ensembl chr  X:10,197,547...10,218,583
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, type 2A
ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe
ClinVar Annotator: match by OMIM:300071
OMIM
ClinVar
PMID:9529339, PMID:9662399, PMID:9662400, PMID:12187427, PMID:12719097, PMID:15897456, PMID:24033266, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30576320, PMID:30718709 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
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's disease
ClinVar Annotator: match by term: Dent Disease
CTD
ClinVar
PMID:10561751, PMID:15719255, PMID:15814539, PMID:20804101, PMID:28492532 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISS OMIM:300009 | OMIM:300555 MouseDO NCBI chr  X:134,742,226...134,793,411
Ensembl chr  X:134,742,356...134,792,618
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
ClinVar Annotator: match by term: Dent disease 1
ClinVar Annotator: match by OMIM:300009
OMIM
ClinVar
PMID:7874126, PMID:7915957, PMID:8559248, PMID:8950885, PMID:9062355, PMID:9187673, PMID:9259268, PMID:9328929, PMID:9734595, PMID:9853249, PMID:10469281, PMID:10906159, PMID:11136179, PMID:12637640, PMID:14569459, PMID:15052463, PMID:15086899, PMID:15719255, PMID:15895257, PMID:16041495, PMID:16247550, PMID:16822791, PMID:16861240, PMID:18038239, PMID:18184518, PMID:19076289, PMID:19546586, PMID:19546591, PMID:19657328, PMID:19673950, PMID:19806368, PMID:24081861, PMID:25326635, PMID:25741868, PMID:25907713, PMID:26822237, PMID:28492532 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
G Mir188 microRNA 188 ISO ClinVar Annotator: match by term: Dent disease 1 ClinVar PMID:7874126, PMID:9328929, PMID:15052463 NCBI chr  X:16,110,270...16,110,349
Ensembl chr  X:16,110,270...16,110,349
JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Dent disease 1 ClinVar PMID:7874126, PMID:9328929, PMID:15052463 NCBI chr  X:16,121,332...16,121,411
Ensembl chr  X:16,121,322...16,121,413
JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Dent disease 1 ClinVar PMID:7874126, PMID:9328929, PMID:15052463 NCBI chr  X:16,109,870...16,109,948
Ensembl chr  X:16,109,870...16,109,948
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 5:142,731,767...142,796,305
Ensembl chr 5:142,731,767...142,796,305
JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Dent disease type 2 OMIM
ClinVar
PMID:15627218, PMID:17162149, PMID:17384968, PMID:21031565, PMID:24081861, PMID:25480730, PMID:25741868, PMID:27625797, PMID:28018608, PMID:28492532 NCBI chr  X:134,742,226...134,793,411
Ensembl chr  X:134,742,356...134,792,618
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 NCBI chr  X:20,141,406...20,146,082
Ensembl chr  X:20,144,432...20,232,639
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 6:73,553,111...73,991,992
Ensembl chr 6:73,553,210...73,990,534
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd4 Cd4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
G Ctss cathepsin S ISS OMIM:310200 MouseDO NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
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 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Dmd dystrophin treatment ISO
IMP
ClinVar Annotator: match by term: Duchenne 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
ClinVar Annotator: match by term: Dilated cardiomyopathy 3B
mRNA:decreased stability:muscle
ClinVar Annotator: match by term: Intermediate muscular dystrophy
ClinVar Annotator: match by OMIM:310200
ClinVar Annotator: match by OMIM:300376
ClinVar
CTD
OMIM
PMID:1301174, PMID:1301934, PMID:1307253, PMID:1363782, PMID:1383546, PMID:1483053, PMID:1496988, PMID:1513469, PMID:1549596, PMID:1601417, PMID:1864612, PMID:1868831, PMID:1889805, PMID:2040695, PMID:2063877, PMID:2071150, PMID:2136098, PMID:2261642, PMID:2316519, PMID:2354438, PMID:2383276, PMID:2573997, PMID:2677830, PMID:2691353, PMID:7041906, PMID:7581396, PMID:7599634, PMID:7599638, PMID:7611292, PMID:7649554, PMID:7668256, PMID:7747792, PMID:7825571, PMID:7825572, PMID:7849724, PMID:7853367, PMID:7881286, PMID:7951251, PMID:7951253, PMID:7981590, PMID:7981690, PMID:7981747, PMID:8034300, PMID:8149204, PMID:8160755, PMID:8199594, PMID:8223790, PMID:8281150, PMID:8301652, PMID:8317478, PMID:8353493, PMID:8361506, PMID:8364587, PMID:8401539, PMID:8401582, PMID:8413368, PMID:8423832, PMID:8499922, PMID:8533818, PMID:8543940, PMID:8652023, PMID:8784808, PMID:8789442, PMID:8840119, PMID:8902723, PMID:9007319, PMID:9028449, PMID:9040743, PMID:9067763, PMID:9073314, PMID:9143930, PMID:9170393, PMID:9170407, PMID:9195228, PMID:9224530, PMID:9225508, PMID:9298822, PMID:9441825, PMID:9470882, PMID:9544849, PMID:9619643, PMID:9628192, PMID:9760747, PMID:9800909, PMID:10094565, PMID:10196701, PMID:10320864, PMID:10392746, PMID:10464635, PMID:10480348, PMID:10533061, PMID:10541573, PMID:10612827, PMID:10832829, PMID:10841222, PMID:10909857, PMID:10939566, PMID:11039581, PMID:11185740, PMID:11257468, PMID:11381192, PMID:11388892, PMID:11404124, PMID:11409318, PMID:11409421, PMID:11524473, PMID:11710958, PMID:11879882, PMID:12111668, PMID:12233050, PMID:12324874, PMID:12354438, PMID:12359139, PMID:12398835, PMID:12467752, PMID:12632325, PMID:12673664, PMID:12674656, PMID:12754415, PMID:12754707, PMID:12920092, PMID:12966700, PMID:13679720, PMID:14571009, PMID:14600829, PMID:14652441, PMID:14659407, PMID:14695533, PMID:14751810, PMID:14973546, PMID:14977063, PMID:15038390, PMID:15253946, PMID:15319032, PMID:15351422, PMID:15637982, PMID:15643612, PMID:15655674, PMID:15684864, PMID:15723292, PMID:15841391, PMID:15845029, PMID:15952989, PMID:15976104, PMID:16030524, PMID:16049303, PMID:16077730, PMID:16122626, PMID:16331671, PMID:16439068, PMID:16566881, PMID:16770791, PMID:16834926, PMID:16883524, PMID:16917894, PMID:16950195, PMID:17024373, PMID:17041906, PMID:17124406, PMID:17145200, PMID:17253928, PMID:17259292, PMID:17435279, PMID:17561468, PMID:17726484, PMID:17854090, PMID:17880784, PMID:17952667, PMID:18055393, PMID:18059005, PMID:18261911, PMID:18348289, PMID:18353051, PMID:18403565, PMID:18445268, PMID:18583217, PMID:18646563, PMID:18652600, PMID:18653336, PMID:18663755, PMID:18683213, PMID:18752307, PMID:18853462, PMID:18974567, PMID:19001018, PMID:19040728, PMID:19073314, PMID:19074751, PMID:19084397, PMID:19158079, PMID:19206170, PMID:19230662, PMID:19309154, PMID:19367636, PMID:19409785, PMID:19449031, PMID:19461958, PMID:19530190, PMID:19602481, PMID:19760747, PMID:19763152, PMID:19783145, PMID:19793655, PMID:19823873, PMID:19835634, PMID:19837995, PMID:19907931, PMID:19937601, PMID:19959795, PMID:20031633, PMID:20036901, PMID:20098710, PMID:20153965, PMID:20307669, PMID:20381484, PMID:20457930, PMID:20485447, PMID:20630757, PMID:20683981, PMID:20696926, PMID:20847377, PMID:20944443, PMID:21104870, PMID:21150048, PMID:21228398, PMID:21273767, PMID:21396098, PMID:21399986, PMID:21515508, PMID:21520333, PMID:21525508, PMID:21815800, PMID:21851881, PMID:21896784, PMID:21969337, PMID:21972111, PMID:22090376, PMID:22092019, PMID:22102647, PMID:22161109, PMID:22223181, PMID:22234188, PMID:22234189, PMID:22379338, PMID:22406018, PMID:22510846, PMID:22678781, PMID:22776072, PMID:22894145, PMID:22910583, PMID:22980762, PMID:23092449, PMID:23251671, PMID:23263593, PMID:23276443, PMID:23297412, PMID:23299917, PMID:23299919, PMID:23352160, PMID:23438214, PMID:23453023, PMID:23536893, PMID:23667215, PMID:23695957, PMID:23756440, PMID:23757202, PMID:23818053, PMID:23829870, PMID:23871722, PMID:23914114, PMID:24033266, PMID:24055113, PMID:24099565, PMID:24217213, PMID:24265581, PMID:24292997, PMID:24300647, PMID:24302611, PMID:24349043, PMID:24349052, PMID:24558114, PMID:24690944, PMID:24770780, PMID:24835530, PMID:24871807, PMID:24892813, PMID:24928015, PMID:25007885, PMID:25056178, PMID:25076844, PMID:25108525, PMID:25163546, PMID:25231023, PMID:25244321, PMID:25326637, PMID:25333069, PMID:25348330, PMID:25353622, PMID:25434822, PMID:25447171, PMID:25474345, PMID:25482253, PMID:25525159, PMID:25612904, PMID:25614876, PMID:25636106, PMID:25637381, PMID:25741868, PMID:25972034, PMID:26081009, PMID:26110187, PMID:26140716, PMID:26260725, PMID:26284620, PMID:26455815, PMID:26467025, PMID:26594346, PMID:26676145, PMID:26718981, PMID:26740235, PMID:26743743, PMID:26745801, PMID:26836830, PMID:26911353, PMID:26930420, PMID:26934379, PMID:26968818, PMID:26990548, PMID:27122458, PMID:27206868, PMID:27263301, PMID:27350676, PMID:27363342, PMID:27425820, PMID:27515321, PMID:27593222, PMID:27708273, PMID:27750387, PMID:27854212, PMID:27854218, PMID:27930565, PMID:28100912, PMID:28116794, PMID:28181471, PMID:28181689, PMID:28247318, PMID:28318817, PMID:28407826, PMID:28416588, PMID:28492532, PMID:28503591, PMID:28526893, PMID:28580208, PMID:28610567, PMID:28701297, PMID:28750076, PMID:28798025, PMID:28859693, PMID:28878337, PMID:28878402, PMID:29246534, PMID:29304097, PMID:29404407, PMID:29511324, PMID:29581631, PMID:29604111, PMID:29641567, PMID:29792937, PMID:29847600, PMID:29901616, PMID:29973226, PMID:30086531, PMID:30311386, PMID:30342905, PMID:30415094, PMID:30564623, PMID:30833962, PMID:31081998, PMID:31333075, PMID:31412794, PMID:31568572, PMID:32860008, PMID:3055295, PMID:25310701, PMID:22810924, PMID:24010700, PMID:25005781, PMID:23975932, PMID:9288751 RGD:1580859, RGD:12880034, RGD:12880014, RGD:12880007, RGD:11040981, RGD:12879862, RGD:737706 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
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 Itga7 integrin subunit alpha 7 treatment ISO RGD PMID:23319059 RGD:13601981 NCBI chr 7:3,355,079...3,383,886
Ensembl chr 7:3,355,116...3,384,675
JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type ClinVar PMID:25503501, PMID:25741868, PMID:26845104, PMID:28259476, PMID:28492532 NCBI chr 8:119,486,655...119,523,716
Ensembl chr 8:119,486,691...119,523,964
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:23977226 RGD:13204809 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:9542584 RGD:13825135 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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, PMID:25676813, PMID:25741868, PMID:27930701, PMID:28166282, PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Pla2g6 phospholipase A2 group VI ISO RGD PMID:22934738 RGD:12910703 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
G Postn periostin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:25741868 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
G Stx1b syntaxin 1B ISO RGD PMID:26604869 RGD:12903957 NCBI chr 1:199,251,842...199,270,465
Ensembl chr 1:199,251,844...199,270,627
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO RGD PMID:26604869 RGD:12903957 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15616792 RGD:1580161 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
JBrowse link
G Utrn utrophin ISO RGD PMID:9288751 RGD:737706 NCBI chr 1:6,451,809...6,970,040
Ensembl chr 1:6,451,810...6,970,040
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:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
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
PMID:8696334, PMID:9507389, PMID:9630076, PMID:9683615, PMID:9736768, PMID:9856856, PMID:10951256, PMID:11279189, PMID:11295832, PMID:11309369, PMID:11378824, PMID:11416205, PMID:12949972, PMID:14656435, PMID:15461765, PMID:15663448, PMID:17066260, PMID:17970812, PMID:18076698, PMID:18231121, PMID:18384562, PMID:18386312, PMID:18427821, PMID:18451855, PMID:18510547, PMID:18545687, PMID:18657636, PMID:18666859, PMID:18821982, PMID:19278982, PMID:19533796, PMID:19592680, PMID:19623212, PMID:19921643, PMID:20236127, PMID:20374512, PMID:20486090, PMID:20979233, PMID:21357618, PMID:21457804, PMID:22032522, PMID:22350046, PMID:22382802, PMID:22428923, PMID:22875504, PMID:23293949, PMID:23553579, PMID:23744313, PMID:23926003, PMID:23989902, PMID:23991204, PMID:24033266, PMID:24279917, PMID:24312213, PMID:24487376, PMID:24648697, PMID:24664614, PMID:24689965, PMID:24724966, PMID:25333067, PMID:25626993, PMID:25741868, PMID:26273176, PMID:26325558, PMID:26345974, PMID:26634545, PMID:26753551, PMID:27054699, PMID:27144394, PMID:27305980, PMID:27657131, PMID:28045201, PMID:28492532, PMID:8696334 RGD:1598881 NCBI chr  X:69,730,123...70,222,693
Ensembl chr  X:69,730,242...70,220,329
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:66,560,200...66,602,509
Ensembl chr  X:66,561,286...66,602,506
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:18065779, PMID:18561327, PMID:18704500, PMID:25741868 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:17847007, PMID:19559398, PMID:21484994, PMID:22581971, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24449199, PMID:24700731, PMID:25356970, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency
DNA:mutation:splicing site:
ClinVar Annotator: match by OMIM:300291
ClinVar Annotator: match by synonym: EDA-ID
OMIM
ClinVar
PMID:117248, PMID:8169255, PMID:11047757, PMID:11179023, PMID:11224521, PMID:11242109, PMID:11484156, PMID:11590134, PMID:12045264, PMID:14726382, PMID:15100680, PMID:15833888, PMID:16228229, PMID:16333836, PMID:16379012, PMID:16532398, PMID:16818673, PMID:16950813, PMID:17072331, PMID:17910706, PMID:18851874, PMID:19903677, PMID:21622647, PMID:24682681, PMID:25741868, PMID:26117626, PMID:29077208, PMID:16333836 RGD:12791265 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
Factor V and Factor VIII, Combined Deficiency of, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2
DNA:missense mutation: :p.D122V (human)
ClinVar Annotator: match by OMIM:613625
OMIM
ClinVar
PMID:12717434, PMID:13229969, PMID:18391077, PMID:25741868, PMID:31064749, PMID:17610559 RGD:11062141 NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
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 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C5 complement C5 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:11776297 RGD:11352263 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cfb complement factor B ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfp complement factor properdin ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr  X:1,311,121...1,316,683
Ensembl chr  X:1,311,121...1,316,682
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F8 coagulation factor VIII treatment ISO
IAGP
IMP
ClinVar Annotator: match by term: Hemophilia A
ClinVar Annotator: match by term: Hemophilia A, congenital
ClinVar Annotator: match by term: Factor VIII deficiency, congenital
ClinVar Annotator: match by term: Hemophilia A, FVIII Deficiency
DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:306700
DNA:missense mutations, nonsense mutations, frameshift mutation:exon:multiple
ClinVar
CTD
OMIM
PMID:1301194, PMID:1301932, PMID:1301960, PMID:1349567, PMID:1357455, PMID:1412186, PMID:1523102, PMID:1559571, PMID:1569180, PMID:1569181, PMID:1639429, PMID:1643024, PMID:1671991, PMID:1840568, PMID:1908096, PMID:1908817, PMID:1923751, PMID:1924291, PMID:1969840, PMID:1979502, PMID:2104741, PMID:2104766, PMID:2105106, PMID:2105906, PMID:2106480, PMID:2107542, PMID:2109644, PMID:2110545, PMID:2121641, PMID:2125022, PMID:2159433, PMID:2473810, PMID:2493803, PMID:2495245, PMID:2498882, PMID:2506948, PMID:2510835, PMID:2567219, PMID:2831458, PMID:2833855, PMID:2835307, PMID:2861360, PMID:2887317, PMID:2901224, PMID:2907841, PMID:2986011, PMID:2987704, PMID:3035554, PMID:3097553, PMID:3122181, PMID:3131627, PMID:6253938, PMID:6438527, PMID:7579394, PMID:7662970, PMID:7728145, PMID:7984443, PMID:8052958, PMID:8054459, PMID:8069313, PMID:8281136, PMID:8307558, PMID:8322269, PMID:8449505, PMID:8485051, PMID:8497853, PMID:8576960, PMID:8639447, PMID:10404764, PMID:10609755, PMID:10910913, PMID:11110718, PMID:11189482, PMID:11442643, PMID:11554935, PMID:11713379, PMID:11857744, PMID:11918545, PMID:12139751, PMID:12351418, PMID:12406074, PMID:12884004, PMID:15471879, PMID:15735794, PMID:15810915, PMID:15921397, PMID:16051741, PMID:16786531, PMID:16834740, PMID:17209060, PMID:17445092, PMID:18034822, PMID:18217193, PMID:18371163, PMID:18479430, PMID:18565236, PMID:18691168, PMID:19377476, PMID:19456877, PMID:19473423, PMID:19719548, PMID:20301578, PMID:20331761, PMID:20800587, PMID:21217077, PMID:21645180, PMID:21645226, PMID:21689372, PMID:21751985, PMID:21838755, PMID:22103590, PMID:23534532, PMID:23711237, PMID:23809411, PMID:23812942, PMID:23961341, PMID:23963097, PMID:24033266, PMID:24086941, PMID:24108539, PMID:24118398, PMID:24134483, PMID:24953131, PMID:25326637, PMID:25708597, PMID:25741868, PMID:25948085, PMID:26383047, PMID:26879396, PMID:26897466, PMID:27292088, PMID:28492532, PMID:30311386, PMID:31064749, PMID:32581362, PMID:16786531, PMID:20626616, PMID:24931420, PMID:10612839, PMID:10468616 RGD:1582357, RGD:7245964, RGD:11530071, RGD:10450758, RGD:10450757 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:24931420 RGD:11530071
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 F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Hemophilia A ClinVar NCBI chr 1:147,021,436...147,022,950
Ensembl chr 1:147,021,436...147,022,950
JBrowse link
G F9 coagulation factor IX ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemophilia A
CTD
ClinVar
PMID:1346975, PMID:1864609, PMID:2066105, PMID:2087690, PMID:2472424, PMID:2773937, PMID:2929599, PMID:3181127, PMID:5298508, PMID:6603618, PMID:16051741, PMID:19699296, PMID:22544209, PMID:22639855, PMID:25326637, PMID:25741868, PMID:28492532, PMID:29993188, PMID:31064749, PMID:32581362 NCBI chr  X:143,097,507...143,141,791
Ensembl chr  X:143,097,525...143,141,794
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa susceptibility ISO DNA:SNP:cds:p.R131H (human) RGD PMID:24916518 RGD:11040767 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO DNA:repeat:promoter RGD PMID:23716558 RGD:10755564 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Ifng interferon gamma treatment ISO DNA:SNP: :+874 A>T (human) RGD PMID:25930091 RGD:11055683 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Plat plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO RGD PMID:9157572 RGD:11041784 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO DNA:polymorphism: :869T>C(rs1982037)(human) RGD PMID:25930091 RGD:11055683 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:25955153 RGD:11073776 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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 chr18:367,862...399,242
Ensembl chr18:367,862...399,242
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
ClinVar Annotator: match by term: Combined deficiency of factor V and factor VIII, 1
ClinVar Annotator: match by OMIM:227300
OMIM
ClinVar
PMID:9045860, PMID:9546392, PMID:18391077, PMID:25741868, PMID:31064749 NCBI chr18:61,683,377...61,707,344
Ensembl chr18:61,685,117...61,707,317
JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Combined deficiency of factor V and factor VIII, 1
ClinVar Annotator: match by term: FMFD I
ClinVar PMID:12717434, PMID:13229969, PMID:25741868, PMID:31064749 NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
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 anemia, complementation group B
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:8368240, PMID:15502827, PMID:16679491, PMID:17924555, PMID:21910217, PMID:23613520, PMID:24033266, PMID:25168418, PMID:25741868, PMID:28492532 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711
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 PMID:19200522 RGD:11576290 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keller syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human)
CTD
ClinVar
PMID:8279489, PMID:10405444, PMID:10982179, PMID:16700052, PMID:17036352, PMID:17103446, PMID:17334363, PMID:17369503, PMID:18414213, PMID:20507344, PMID:20970104, PMID:23395478, PMID:23757202, PMID:24039113, PMID:24728327, PMID:25326637, PMID:25644381, PMID:25741868, PMID:26273451, PMID:26338144, PMID:26813965, PMID:28492532, PMID:30311386, PMID:17334363, PMID:20507344 RGD:12910952, RGD:12910948 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
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:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar
PMID:8279489, PMID:10405444, PMID:10982179, PMID:16700052, PMID:17036352, PMID:17103446, PMID:17334363, PMID:17369503, PMID:18414213, PMID:18691967, PMID:19938245, PMID:20507344, PMID:20970104, PMID:20981778, PMID:23395478, PMID:23757202, PMID:24039113, PMID:24728327, PMID:25326635, PMID:25326637, PMID:25644381, PMID:25741868, PMID:26273451, PMID:26338144, PMID:26813965, PMID:28492532, PMID:30311386 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,199,390...71,227,460
Ensembl chr  X:71,199,491...71,222,732
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 ClinVar
OMIM
PMID:16299064, PMID:17632775, PMID:25167861, PMID:25741868, PMID:28133863, PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
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: Mental retardation, CASK-related, X-linked
ClinVar Annotator: match by term: FG syndrome 4
ClinVar Annotator: match by term: CASK-Related Disorder
ClinVar
OMIM
PMID:18414213, PMID:19165920, PMID:19200522, PMID:19377476, PMID:20029458, PMID:21498811, PMID:21609947, PMID:21735175, PMID:21954287, PMID:22452838, PMID:22495306, PMID:22709267, PMID:23165780, PMID:23623288, PMID:23662938, PMID:24768552, PMID:24781210, PMID:24893065, PMID:25741868, PMID:25886057, PMID:26467025, PMID:27799067, PMID:28492532, PMID:28783747, PMID:29691940 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar PMID:21735175, PMID:28492532 NCBI chr  X:10,022,986...10,043,504
Ensembl chr  X:10,023,489...10,031,167
JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar PMID:21735175, PMID:28492532 NCBI chr  X:9,992,832...10,001,036
Ensembl chr  X:9,998,415...9,999,401
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
PMID:9071288, PMID:15523633, PMID:15917206, PMID:16596676, PMID:16835913, PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532, PMID:31064749, PMID:16835913 RGD:11063279 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
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 ClinVar
OMIM
PMID:12693786, PMID:28805828 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799
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 type IXa1
DNA:mutations:multiple
DNA:missense mutations:multiple
ClinVar Annotator: match by term: GSD VIII
ClinVar Annotator: match by term: Glycogen storage disease IXa2
ClinVar Annotator: match by OMIM:306000
OMIM
ClinVar
PMID:2303074, PMID:5306139, PMID:7711737, PMID:7847371, PMID:7959740, PMID:8733133, PMID:8733134, PMID:9600238, PMID:9835437, PMID:9870210, PMID:10330341, PMID:11286390, PMID:12862311, PMID:12872839, PMID:17689125, PMID:18950708, PMID:21634085, PMID:21646031, PMID:21857251, PMID:21911307, PMID:22899091, PMID:23578772, PMID:24055370, PMID:25070466, PMID:25266922, PMID:25741868, PMID:25741869, PMID:26157701, PMID:27103379, PMID:28468868, PMID:28492532, PMID:28600779, PMID:28627441, PMID:30659246, PMID:28627441, PMID:8733134, PMID:28283841 RGD:26884355, RGD:26884354, RGD:26884353 NCBI chr  X:35,970,650...36,926,616 JBrowse link
glycogen storage disease IXd term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXd
ClinVar Annotator: match by term: GSD IXd
ClinVar Annotator: match by OMIM:300559
OMIM
ClinVar
PMID:2252364, PMID:7874115, PMID:8145916, PMID:9731190, PMID:12825073, PMID:15637709, PMID:18401027, PMID:22238410, PMID:25741868, PMID:28492532 NCBI chr  X:72,377,020...72,515,385
Ensembl chr  X:72,377,021...72,515,366
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: Hemophilia B ClinVar PMID:2198809, PMID:3029178, PMID:4045960, PMID:8304338, PMID:24375831, PMID:28492532 NCBI chr  X:143,340,712...143,525,588
Ensembl chr  X:143,346,252...143,453,612
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease
ClinVar Annotator: match by term: Hemophilia B
ClinVar PMID:1301932, PMID:1301960, PMID:1349567, PMID:1357455, PMID:1671991, PMID:1908096, PMID:1924291, PMID:1979502, PMID:2104741, PMID:2106480, PMID:2493803, PMID:2498882, PMID:2506948, PMID:2833855, PMID:2987704, PMID:6438527, PMID:7728145, PMID:8281136, PMID:8307558, PMID:8449505, PMID:11857744, PMID:12139751, PMID:15810915, PMID:17445092, PMID:18034822, PMID:18691168, PMID:19456877, PMID:21751985, PMID:21838755, PMID:23812942, PMID:25741868, PMID:31064749 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G F9 coagulation factor IX treatment ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease
ClinVar Annotator: match by term: Factor IX deficiency
ClinVar Annotator: match by term: Hemophilia B
ClinVar Annotator: match by term: Hemophilia b(m)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:306900
DNA:mutations:cds:P.G396R,K411X,I397T(human)
DNA:nonsense mutation:cds:p.R338X (human)
ClinVar Annotator: match by term: Hemophilia B Brandenburg
ClinVar Annotator: match by synonym: Hemophilia B Leyden
ClinVar Annotator: match by synonym: HEMOPHILIA B(M)
ClinVar
CTD
OMIM
PMID:734633, PMID:884315, PMID:1346483, PMID:1346975, PMID:1598234, PMID:1615485, PMID:1615486, PMID:1631121, PMID:1631558, PMID:1733855, PMID:1864609, PMID:1897528, PMID:1902289, PMID:1958666, PMID:1969838, PMID:1986380, PMID:1998585, PMID:2004020, PMID:2066105, PMID:2087690, PMID:2198809, PMID:2220823, PMID:2270538, PMID:2320433, PMID:2339358, PMID:2342576, PMID:2352926, PMID:2355000, PMID:2370049, PMID:2372509, PMID:2388855, PMID:2438804, PMID:2450455, PMID:2472424, PMID:2494175, PMID:2563663, PMID:2564457, PMID:2592373, PMID:2714791, PMID:2738071, PMID:2741941, PMID:2743975, PMID:2753873, PMID:2757966, PMID:2762170, PMID:2773937, PMID:2775660, PMID:2821070, PMID:2831715, PMID:2841226, PMID:2846283, PMID:2848757, PMID:2873459, PMID:2875754, PMID:2886685, PMID:2917196, PMID:2929599, PMID:2992643, PMID:3009023, PMID:3029178, PMID:3181127, PMID:3243764, PMID:3262389, PMID:3392024, PMID:3401602, PMID:3411192, PMID:3416069, PMID:3790720, PMID:3857619, PMID:4033760, PMID:4045960, PMID:4163943, PMID:5298508, PMID:5450691, PMID:6603618, PMID:6843667, PMID:7062952, PMID:7101232, PMID:7677806, PMID:7734378, PMID:7937052, PMID:8091381, PMID:8178822, PMID:8199596, PMID:8217825, PMID:8251390, PMID:8304338, PMID:8314564, PMID:8318985, PMID:8320491, PMID:8352232, PMID:8392713, PMID:8434583, PMID:8478007, PMID:8499951, PMID:8594556, PMID:8680410, PMID:9525872, PMID:9590153, PMID:9600455, PMID:10094553, PMID:10595634, PMID:10698280, PMID:10739381, PMID:10942410, PMID:10980527, PMID:11122099, PMID:12780784, PMID:12997790, PMID:15086324, PMID:18624698, PMID:19286883, PMID:19522246, PMID:19699296, PMID:19815722, PMID:19846852, PMID:20301668, PMID:22103590, PMID:22544209, PMID:22639855, PMID:22707612, PMID:23093250, PMID:23472758, PMID:23617593, PMID:24375831, PMID:25326637, PMID:25470321, PMID:25741868, PMID:25851415, PMID:26612714, PMID:27213901, PMID:27529981, PMID:27824213, PMID:28168417, PMID:28492532, PMID:28752769, PMID:28834196, PMID:29993188, PMID:31064749, PMID:32581362, PMID:2041805, PMID:20351275, PMID:9354664, PMID:21122306, PMID:2714791, PMID:2752145 RGD:9685705, RGD:10450764, RGD:10450762, RGD:10450761, RGD:10450760, RGD:10450759 NCBI chr  X:143,097,507...143,141,791
Ensembl chr  X:143,097,525...143,141,794
JBrowse link
G LOC688842 hypothetical protein LOC688842 ISO ClinVar Annotator: match by term: Hemophilia B ClinVar PMID:2198809, PMID:3029178, PMID:4045960, PMID:8304338, PMID:24375831, PMID:28492532 NCBI chr  X:143,554,334...143,596,247
Ensembl chr  X:143,554,441...143,558,521
JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: Hemophilia B ClinVar PMID:2198809, PMID:3029178, PMID:4045960, PMID:8304338, PMID:24375831, PMID:28492532 NCBI chr  X:143,159,071...143,292,467
Ensembl chr  X:143,154,209...143,274,180
JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Hemophilia B ClinVar PMID:2198809, PMID:3029178, PMID:4045960, PMID:8304338, PMID:24375831, PMID:28492532 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
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, PMID:28492532 NCBI chr  X:107,394,468...107,405,564
Ensembl chr  X:107,394,486...107,405,564
JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED
ClinVar Annotator: match by term: Spastic paraplegia 2
OMIM
ClinVar
PMID:1720927, PMID:7522741, PMID:7531827, PMID:8012387, PMID:8320699, PMID:8659540, PMID:8723686, PMID:8956049, PMID:9056547, PMID:9247276, PMID:9427151, PMID:9489796, PMID:9633722, PMID:9634530, PMID:10319885, PMID:10417279, PMID:12601703, PMID:14452137, PMID:14745569, PMID:15712223, PMID:16287154, PMID:16380909, PMID:17438221, PMID:18160035, PMID:18414213, PMID:18470932, PMID:19328639, PMID:19825935, PMID:21679407, PMID:23344956, PMID:23347225, PMID:24139698, PMID:24890387, PMID:25741868, PMID:26125040, PMID:26467025, PMID:27535533, PMID:28366443, PMID:28492532 NCBI chr  X:107,494,326...107,511,355
Ensembl chr  X:107,496,072...107,511,348
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Spastic paraplegia 2
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED
ClinVar PMID:7522741, PMID:7531827, PMID:8012387, PMID:8320699, PMID:8723686, PMID:8956049, PMID:9056547, PMID:9247276, PMID:9427151, PMID:9489796, PMID:9634530, PMID:10417279, PMID:12601703, PMID:14452137, PMID:14745569, PMID:15712223, PMID:16287154, PMID:16380909, PMID:17438221, PMID:18160035, PMID:18414213, PMID:18470932, PMID:19328639, PMID:19825935, PMID:21679407, PMID:23344956, PMID:24139698, PMID:24890387, PMID:25741868, PMID:26125040, PMID:26467025, PMID:27535533, PMID:28366443, PMID:28492532 NCBI chr  X:107,531,404...107,542,510
Ensembl chr  X:107,531,404...107,542,510
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, PMID:28492532 NCBI chr  X:107,370,351...107,372,347
Ensembl chr  X:107,370,431...107,372,338
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, PMID:28492532 NCBI chr  X:107,322,077...107,324,054
Ensembl chr 2:102,370,158...102,370,757
Ensembl chr  X:102,370,158...102,370,757
JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:206,285,085...206,293,599
Ensembl chr 2:206,285,089...206,293,599
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 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785587 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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
ClinVar Annotator: match by term: Kallmann syndrome 1
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
OMIM
ClinVar
PMID:1518845, PMID:1594017, PMID:1639422, PMID:1904396, PMID:8504298, PMID:9589672, PMID:9713559, PMID:11297579, PMID:12050219, PMID:12727945, PMID:15605412, PMID:16882753, PMID:17054399, PMID:21681106, PMID:21717404, PMID:22035731, PMID:23100014, PMID:23410897, PMID:23533228, PMID:23643382, PMID:23849776, PMID:25339597, PMID:25741868, PMID:26708526, PMID:26862482, PMID:27657687, PMID:28295047, PMID:28492532, PMID:28566479, PMID:28708303 Ensembl chr10:70,999,780...71,000,627 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 chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome
ClinVar Annotator: match by OMIM:308205
OMIM
ClinVar
PMID:10694306, PMID:19361614, PMID:21426410, PMID:22105905, PMID:24313295, PMID:25741868 NCBI chr  X:40,258,933...40,309,047
Ensembl chr  X:40,258,493...40,310,563
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: Hypothyroidism, central, and testicular enlargement ClinVar NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement
ClinVar Annotator: match by term: HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement ClinVar NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement
ClinVar Annotator: match by OMIM:300888
OMIM
ClinVar
PMID:23143598, PMID:25741868, PMID:27310681, PMID:30086211 NCBI chr  X:136,792,637...136,808,107
Ensembl chr  X:136,792,643...136,807,885
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 Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome ClinVar PMID:19471859, PMID:28492532, PMID:30443250 NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925
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 Annotator: match by term: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
ClinVar Annotator: match by OMIM:304790
ClinVar
CTD
OMIM
PMID:10706361, PMID:11120765, PMID:11137992, PMID:11137993, PMID:11295725, PMID:12161590, PMID:14671208, PMID:15096376, PMID:16741580, PMID:16920951, PMID:17635943, PMID:18414213, PMID:18931102, PMID:18951619, PMID:19471859, PMID:20650610, PMID:21036387, PMID:24033266, PMID:24250806, PMID:24258212, PMID:24982679, PMID:25326164, PMID:25741868, PMID:25911531, PMID:26661331, PMID:27783946, PMID:28492532, PMID:28778586, PMID:28783662, PMID:29896738, PMID:30443250, PMID:11137992 RGD:1598959 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
immunodeficiency 33 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: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
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: Invasive pneumococcal disease, recurrent isolated, 2
ClinVar Annotator: match by term: Immunodeficiency without anhidrotic ectodermal dysplasia
ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED
ClinVar Annotator: match by OMIM:300636
OMIM
ClinVar
PMID:11590134, PMID:12459250, PMID:15229184, PMID:15356572, PMID:15577852, PMID:15833888, PMID:16532398, PMID:16818673, PMID:16950813, PMID:18179816, PMID:25068423, PMID:25741868, PMID:28993958, PMID:29534156, PMID:31965418 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
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: Atypical mycobacteriosis, familial, X-linked 2
ClinVar Annotator: match by OMIM:300645
OMIM
ClinVar
PMID:17293536, PMID:21278736, PMID:25741868, PMID:28492532 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
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:27231034, PMID:29192153, PMID:29396028, PMID:32058063, PMID:32216104 NCBI chr  X:156,407,973...156,415,053
Ensembl chr  X:156,407,937...156,415,145
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: IMMUNODEFICIENCY 50
ClinVar Annotator: match by term: Immunodeficiency 50
ClinVar
OMIM
PMID:24033266, PMID:27405666, PMID:28378256, PMID:29556235 NCBI chr  X:65,226,834...65,294,192
Ensembl chr  X:65,226,748...65,295,810
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: Agammaglobulinemia X-linked type 2 OMIM
ClinVar
PMID:29636373 NCBI chr  X:37,790,004...38,196,365
Ensembl chr  X:37,790,586...38,196,204
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
ClinVar Annotator: match by term: IGHD III
ClinVar Annotator: match by OMIM:307200
OMIM
ClinVar
PMID:3486747, PMID:7633420, PMID:7633429, PMID:7678697, PMID:7711734, PMID:7809124, PMID:7849697, PMID:7849721, PMID:7880320, PMID:8013627, PMID:8090769, PMID:8162018, PMID:8162056, PMID:8332900, PMID:8332901, PMID:8380905, PMID:8562928, PMID:8594569, PMID:8644706, PMID:8695804, PMID:8723128, PMID:8834236, PMID:8938104, PMID:8939985, PMID:9106525, PMID:9143921, PMID:9188445, PMID:9192269, PMID:9260159, PMID:9445504, PMID:9524120, PMID:9545398, PMID:9880544, PMID:10092645, PMID:10373551, PMID:10737994, PMID:10844531, PMID:10859027, PMID:11206059, PMID:11410123, PMID:11438999, PMID:11445810, PMID:11472359, PMID:11527964, PMID:11668622, PMID:11742281, PMID:12204007, PMID:12217331, PMID:12405164, PMID:12655572, PMID:14974089, PMID:15661032, PMID:16159644, PMID:16297664, PMID:16712653, PMID:16862044, PMID:16943681, PMID:16951917, PMID:17045652, PMID:17327079, PMID:17765309, PMID:18241230, PMID:18518992, PMID:18677443, PMID:19039656, PMID:19419768, PMID:19904586, PMID:20529312, PMID:21039741, PMID:21520333, PMID:23335184, PMID:23424595, PMID:24001798, PMID:24033266, PMID:24586880, PMID:24869598, PMID:24885015, PMID:25082755, PMID:25189416, PMID:25270678, PMID:25741868, PMID:25777788, PMID:26915675, PMID:27199251, PMID:27512878, PMID:27577878, PMID:27593100, PMID:27980540, PMID:28049639, PMID:28212557, PMID:28359783, PMID:28398200, PMID:28418267, PMID:28492532, PMID:29424453, PMID:29496671, PMID:29503650, PMID:29875397, PMID:30018078, PMID:30072168, PMID:30290665, PMID:30311057, PMID:30564228 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
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)
ClinVar Annotator: match by OMIM:300804
OMIM
ClinVar
PMID:18546297, PMID:19800048, PMID:22353940, PMID:24884629, PMID:25741868, PMID:26092869, PMID:28492532, PMID:16783569, PMID:19800048 RGD:11535965, RGD:11535963 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
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: Nasodigitoacoustic syndrome ClinVar
OMIM
PMID:4708024, PMID:25741868, PMID:30982611 NCBI chr  X:139,354,325...139,464,876
Ensembl chr  X:139,354,155...139,464,798
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:
DNA:repeats:exon
OMIM PMID:2062380, PMID:8469342, PMID:26942099 RGD:734599, RGD:11576241, RGD:11576229 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
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: Hypoxanthine guanine phosphoribosyltransferase deficiency
ClinVar Annotator: match by term: Lesch-Nyhan syndrome
ClinVar Annotator: match by term: HPRT PARIS
DNA:deletion,insertion,duplication:cds:
DNA:mutations:multiple:
ClinVar Annotator: match by term: HPRT EVANSVILLE
ClinVar Annotator: match by term: HPRT NEW BRITON
ClinVar Annotator: match by term: HPRT FLINT
ClinVar Annotator: match by term: HPRT CONNERSVILLE
ClinVar Annotator: match by term: HPRT MIDLAND
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:300322
OMIM
ClinVar
PMID:1301916, PMID:1434518, PMID:1618489, PMID:1639405, PMID:1840549, PMID:1934271, PMID:1937471, PMID:2071157, PMID:2323782, PMID:2347587, PMID:2397545, PMID:2738157, PMID:2760209, PMID:2910902, PMID:2928313, PMID:3198771, PMID:3384338, PMID:3909940, PMID:3944251, PMID:6087154, PMID:6853716, PMID:8664901, PMID:9288634, PMID:9799086, PMID:10737990, PMID:10767182, PMID:11018746, PMID:11668636, PMID:15386453, PMID:15505382, PMID:15571220, PMID:16549399, PMID:17027311, PMID:17454734, PMID:19016344, PMID:20981450, PMID:22132984, PMID:22157001, PMID:22999896, PMID:23975452, PMID:25136576, PMID:25481104, PMID:25741868, PMID:28045594, PMID:28492532, PMID:28708303, PMID:30311386, PMID:24940672, PMID:20638392 RGD:13463104, RGD:13462064 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
JBrowse link
G Xdh xanthine dehydrogenase treatment ISO RGD PMID:17697859 RGD:7247657 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
Lesch-Nyhan Syndrome, Neurologic Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant
DNA,mRNA:missense mutations,decreased expression:cds:
ClinVar PMID:1301916, PMID:2358296, PMID:10737990, PMID:17454734, PMID:20981450, PMID:22157001, PMID:22999896, PMID:25481104, PMID:28492532, PMID:24940672 RGD:13463104 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
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
ClinVar Annotator: match by OMIM:308990
OMIM
ClinVar
PMID:8559248, PMID:9062355, PMID:25741868 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
MASA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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: SPASTIC PARAPLEGIA 1, X-LINKED
ClinVar Annotator: match by term: X-linked hydrocephalus syndrome
DNA:deletion:exon:
DNA:mutation:cds:924C>T(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:303350
ClinVar
CTD
OMIM
PMID:1303258, PMID:1870106, PMID:3460961, PMID:7562969, PMID:7881431, PMID:7920659, PMID:7920660, PMID:8062435, PMID:8401576, PMID:8401593, PMID:8929944, PMID:9643285, PMID:9744477, PMID:10469653, PMID:10767310, PMID:11772994, PMID:13889294, PMID:16650080, PMID:18136715, PMID:20447653, PMID:21271669, PMID:23820807, PMID:25644381, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386, PMID:30712878, PMID:31319225, PMID:7920660, PMID:8786080, PMID:9643285 RGD:6483061, RGD:11570406, RGD:11064095 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
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: Megalocornea ClinVar
OMIM
PMID:25741868, PMID:26938784 NCBI chr  X:114,554,359...114,658,975
Ensembl chr  X:114,554,359...114,658,931
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: Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
ClinVar Annotator: match by term: MEHMO syndrome
ClinVar
OMIM
PMID:23063529, PMID:25741868, PMID:25741869, PMID:27333055, PMID:28055140 NCBI chr  X:63,268,106...63,291,125
Ensembl chr  X:63,268,037...63,292,092
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 ClinVar
OMIM
PMID:11038443, PMID:12503101, PMID:12966533, PMID:18414213, PMID:20949533, PMID:23307567, PMID:24459067, PMID:24700572 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
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: Mental retardation 3, X-linked ClinVar PMID:25741868 NCBI chr19:37,813,284...37,819,782
Ensembl chr19:37,812,751...37,819,789
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Mental retardation 3, X-linked
ClinVar Annotator: match by OMIM:309541
OMIM
ClinVar
PMID:1870093, PMID:23000143, PMID:24011988, PMID:25167861, PMID:25281006, PMID:25740848, PMID:25741868, PMID:26893841, PMID:27403441, PMID:28492532 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: Mental retardation 3, X-linked ClinVar PMID:25741868 NCBI chr19:37,825,576...37,827,393
Ensembl chr19:37,825,576...37,827,393
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 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
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 ClinVar
OMIM
PMID:21681106, PMID:27811305, PMID:28089922, PMID:29174631 NCBI chr  X:114,129,829...114,233,013
Ensembl chr  X:114,131,898...114,232,939
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:114,367,028...114,379,646
Ensembl chr  X:114,373,907...114,378,622
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:113,947,355...114,110,064
Ensembl chr  X:113,948,654...114,110,062
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: NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES
OMIM
ClinVar
PMID:25741868, PMID:28296084, PMID:29263825, PMID:30158690, PMID:30447054, PMID:30765867, PMID:31334757 NCBI chr  X:128,493,603...128,624,418
Ensembl chr  X:128,493,614...128,624,418
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
ClinVar Annotator: match by OMIM:300868
OMIM
ClinVar
PMID:8541557, PMID:8599356, PMID:8652378, PMID:9307258, PMID:10087994, PMID:15307104, PMID:22305531, PMID:24259184, PMID:24259288, PMID:24357517, PMID:24706016, PMID:24759409, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26545172, PMID:28441409, PMID:28492532, PMID:29310717 NCBI chr  X:31,786,823...31,799,751
Ensembl chr  X:31,786,194...31,799,560
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: Mental retardation, X-linked 100 OMIM
ClinVar
NCBI chr  X:70,461,700...70,561,084
Ensembl chr  X:70,461,718...70,561,189
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: Mental retardation, X-linked 101 ClinVar
OMIM
PMID:24115387, PMID:25741868 NCBI chr  X:112,019,897...112,121,980
Ensembl chr  X:112,020,646...112,121,943
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: MENTAL RETARDATION, X-LINKED 103
ClinVar Annotator: match by term: Mental retardation, X-linked 103
ClinVar
OMIM
PMID:24817631, PMID:25644381, PMID:25741868 NCBI chr  X:63,342,277...63,390,915
Ensembl chr  X:63,343,546...63,389,989
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 Frmpd4 FERM and PDZ domain containing 4 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 104 ClinVar
OMIM
PMID:25644381, PMID:25741868, PMID:29267967 NCBI chr  X:27,231,648...28,206,890
Ensembl chr  X:28,072,826...28,204,260
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: MENTAL RETARDATION, X-LINKED 105 ClinVar
OMIM
PMID:25644381 NCBI chr  X:15,987,964...15,991,149
Ensembl chr  X:15,988,604...15,990,484
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: Mental retardation 21, X-linked
ClinVar Annotator: match by OMIM:300143
OMIM
ClinVar
PMID:8230164, PMID:10471494, PMID:16470793, PMID:18801879, PMID:19012350, PMID:21484992, PMID:25741868, PMID:28492532 NCBI chr  X:55,439,388...57,004,865
Ensembl chr  X:55,439,578...56,765,893
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: MENTAL RETARDATION, X-LINKED 47
ClinVar Annotator: match by OMIM:300558
OMIM
ClinVar
PMID:8826460, PMID:9332663, PMID:9731525, PMID:10946356, PMID:12884430, PMID:17853471, PMID:18523455, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:114,784,452...115,042,683
Ensembl chr  X:114,929,029...115,036,669
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: Mental retardation 46, X-linked
ClinVar Annotator: match by term: X-linked mental retardation 46
OMIM
ClinVar
PMID:11017088, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr  X:159,722,031...159,841,344
Ensembl chr  X:159,723,866...159,841,072
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: X-linked mental retardation 58
ClinVar Annotator: match by OMIM:300210
OMIM
ClinVar
PMID:10449641, PMID:10655063, PMID:12070254, PMID:12376945, PMID:14735593, PMID:25741868, PMID:28492532 NCBI chr  X:13,261,551...13,282,886
Ensembl chr  X:13,261,558...13,279,099
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:123,713,327...123,731,431
Ensembl chr  X:123,713,339...123,731,385
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: Mental retardation 9, X-linked
ClinVar Annotator: match by OMIM:309549
OMIM
ClinVar
PMID:8288232, PMID:10398246, PMID:15162322, PMID:15342698, PMID:25741868 NCBI chr  X:14,993,685...15,006,010
Ensembl chr  X:14,994,016...15,002,074
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: X-Linked mental retardation 90
ClinVar Annotator: match by OMIM:300850
OMIM
ClinVar
PMID:15185169, PMID:19795139, PMID:22659343, PMID:23020937, PMID:24721225, PMID:25649377, PMID:28492532, PMID:28777483 NCBI chr  X:70,596,246...70,648,529
Ensembl chr  X:70,596,576...70,648,532
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: Mental retardation, X-linked 93
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY
ClinVar Annotator: match by OMIM:300659
OMIM
ClinVar
PMID:7943039, PMID:17668385, PMID:18414213, PMID:25326637, PMID:25741868, PMID:28492532 NCBI chr  X:79,817,968...79,909,891
Ensembl chr  X:79,824,782...79,909,678
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 OMIM:300802 OMIM
ClinVar
PMID:19377476 NCBI chr  X:15,694,699...15,709,244
Ensembl chr  X:15,695,566...15,707,436
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 Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Mental retardation, X-linked 99
ClinVar Annotator: match by term: USP9X related disorders
ClinVar
OMIM
PMID:19377476, PMID:24607389, PMID:24690944, PMID:25741868, PMID:25763846, PMID:26833328, PMID:28688840 NCBI chr  X:10,510,033...10,660,555
Ensembl chr  X:10,510,033...10,630,297
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: Mental retardation, with or without seizures, ARX-related, X-linked
ClinVar Annotator: match by term: Mental retardation, X-linked 52
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 87
ClinVar Annotator: match by term: X-linked mental retardation, with or without seizures, ARX-related
ClinVar Annotator: match by OMIM:300419
OMIM
ClinVar
PMID:2080994, PMID:3177452, PMID:5008734, PMID:8826464, PMID:10353782, PMID:10398246, PMID:11889467, PMID:11971879, PMID:12116222, PMID:12376938, PMID:12376946, PMID:12376949, PMID:12379852, PMID:12640086, PMID:14722918, PMID:15151512, PMID:15200506, PMID:15850492, PMID:16078051, PMID:16235064, PMID:16523516, PMID:17331656, PMID:17480217, PMID:17641262, PMID:18414213, PMID:19439424, PMID:20300201, PMID:20506206, PMID:21204215, PMID:21204226, PMID:21496008, PMID:25741868, PMID:26029707, PMID:26467025, PMID:28492532, PMID:30255221 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taz tafazzin ISO ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION, ISOLATED, X-LINKED ClinVar PMID:19438153, PMID:19700766, PMID:20530761, PMID:24033266, PMID:24342716, PMID:25741868, PMID:25941633, PMID:28492532 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
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:20340138, PMID:20938005, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria
ClinVar Annotator: match by term: Norrie Disease
ClinVar Annotator: match by OMIM:310600
OMIM
ClinVar
PMID:1303264, PMID:1307245, PMID:7814011, PMID:8069314, PMID:8240113, PMID:8268931, PMID:8790105, PMID:8990009, PMID:9143918, PMID:9382152, PMID:10484772, PMID:15776010, PMID:17334993, PMID:22563645, PMID:30311386 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:14507768, PMID:15035989, PMID:20340138, PMID:20938005, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669 NCBI chr 1:153,732,528...153,742,111
Ensembl chr 1:153,732,532...153,752,541
JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr 4:48,852,823...48,953,240
Ensembl chr 4:48,852,827...48,928,372
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 ClinVar
OMIM
PMID:17262856, PMID:19185523, PMID:21596602, PMID:25741868, PMID:28492532 NCBI chr  X:123,803,109...123,806,760
Ensembl chr  X:124,513,269...124,516,705
Ensembl chr  X:124,513,269...124,516,705
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 ClinVar
OMIM
PMID:25741868, PMID:26741492 NCBI chr  X:1,787,266...1,789,524
Ensembl chr  X:1,787,266...1,789,524
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: Occipital horn syndrome
ClinVar Annotator: match by term: Cutis laxa, X-linked
ClinVar Annotator: match by term: EDS IX
DNA:snp:intron:c.2553+3A>C (mouse)
DNA:transversion:intron:g.IVS10+3A>T (human)
ClinVar Annotator: match by OMIM:304150
OMIM
ClinVar
PMID:7842019, PMID:8149649, PMID:8981948, PMID:9246006, PMID:9880610, PMID:10570920, PMID:10739752, PMID:11241493, PMID:11431706, PMID:17108763, PMID:18414213, PMID:20045993, PMID:23281160, PMID:28492532, PMID:7887410, PMID:9467005 RGD:11340205, RGD:11252184 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
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:133,227,699...133,229,052
Ensembl chr  X:133,227,660...133,229,047
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:131,340,045...131,344,038
Ensembl chr  X:131,340,045...131,343,853
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
ClinVar Annotator: match by OMIM:309000
OMIM
ClinVar
CTD
PMID:8504307, PMID:9430698, PMID:9632163, PMID:9682219, PMID:10364518, PMID:10767176, PMID:10923037, PMID:11149618, PMID:15108291, PMID:15627218, PMID:16722554, PMID:17142121, PMID:17162149, PMID:17384968, PMID:17765681, PMID:19559295, PMID:19795375, PMID:20301653, PMID:21031565, PMID:21233288, PMID:21666675, PMID:22381590, PMID:23047739, PMID:24081861, PMID:24711037, PMID:25326635, PMID:25480730, PMID:25741868, PMID:26694549, PMID:27625797, PMID:28492532, PMID:28973083 NCBI chr  X:134,742,226...134,793,411
Ensembl chr  X:134,742,356...134,792,618
JBrowse link
G Prr32 proline rich 32 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:131,617,765...131,619,762
Ensembl chr  X:131,617,798...131,619,728
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:134,634,651...134,719,503
Ensembl chr  X:134,647,703...134,719,097
JBrowse link
Opitz GBBB syndrome type I 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 GBBB syndrome, type I
ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I
OMIM
ClinVar
PMID:9354791, PMID:11030761, PMID:12545276, PMID:15558842, PMID:17221865, PMID:18360914, PMID:18949047, PMID:21326312, PMID:23757202, PMID:25207814, PMID:25741868, PMID:25874572, PMID:26064728, PMID:26788540, PMID:28492532 NCBI chr  X:25,458,782...25,839,941
Ensembl chr  X:25,458,771...25,628,272
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 XIX ClinVar
OMIM
PMID:27380894 NCBI chr  X:40,258,933...40,309,047
Ensembl chr  X:40,258,493...40,310,563
JBrowse link
Paganini-Miozzo syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hs6st2 heparan sulfate 6-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: PAGANINI-MIOZZO SYNDROME OMIM
ClinVar
PMID:30471091 NCBI chr  X:138,675,326...138,972,774
Ensembl chr  X:138,677,580...138,972,684
JBrowse link
partial androgen insensitivity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Partial androgen insensitivity syndrome
ClinVar Annotator: match by term: Androgen insensitivity, partial, with breast cancer
OMIM
ClinVar
PMID:1303262, PMID:1430233, PMID:1598912, PMID:2010552, PMID:2918059, PMID:7581399, PMID:8040309, PMID:8096390, PMID:8097257, PMID:8281139, PMID:8325932, PMID:8446106, PMID:8723113, PMID:8823308, PMID:8824883, PMID:9039340, PMID:9345099, PMID:9543136, PMID:9768671, PMID:9851768, PMID:10485299, PMID:10543676, PMID:10999818, PMID:11788616, PMID:11788673, PMID:15001585, PMID:15925895, PMID:16083860, PMID:16450583, PMID:16804045, PMID:17054461, PMID:20011049, PMID:24321103, PMID:24737579, PMID:25241384, PMID:25326637, PMID:25741868, PMID:26778393, PMID:27267075, PMID:28186600, PMID:28261839, PMID:28492532, PMID:28624954 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
Partington syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 36
ClinVar Annotator: match by term: Partington X-linked mental retardation syndrome
DNA:duplication:exon:c.428-451dup (human)
OMIM
ClinVar
PMID:2080994, PMID:3177452, PMID:5008734, PMID:8826464, PMID:10353782, PMID:10398246, PMID:11889467, PMID:11971879, PMID:12116222, PMID:12376938, PMID:12376946, PMID:12376949, PMID:12640086, PMID:15151512, PMID:15200506, PMID:15850492, PMID:16078051, PMID:16235064, PMID:17331656, PMID:17480217, PMID:20506206, PMID:21204215, PMID:25741868, PMID:26029707, PMID:28492532, PMID:24528893 RGD:11565843 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:23143715, PMID:25741868, PMID:31319225 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:51,785,111...51,822,264
Ensembl chr18:51,785,111...51,822,264
JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
ClinVar Annotator: match by OMIM:312080
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical, UMLS MESH term: Atypical Pelizaeus Merzbacher Disease
DNA:missense mutation:cds:p.A246T (human)
ClinVar
CTD
OMIM
PMID:1376966, PMID:1384324, PMID:1605230, PMID:1707231, PMID:1715570, PMID:1720927, PMID:2479017, PMID:2480601, PMID:2773936, PMID:3827224, PMID:7573159, PMID:7574457, PMID:7683951, PMID:8659540, PMID:8696336, PMID:8723686, PMID:8786077, PMID:9056547, PMID:9482656, PMID:9633722, PMID:9634530, PMID:11071483, PMID:12605435, PMID:12910435, PMID:16380909, PMID:18571143, PMID:18835559, PMID:19396823, PMID:20301361, PMID:24088041, PMID:25326635, PMID:25491635, PMID:25741868, PMID:26125040, PMID:26633545, PMID:27535533, PMID:28492532, PMID:29451896, PMID:14572140, PMID:10425042 RGD:1358783, RGD:1358559 NCBI chr  X:107,494,326...107,511,355
Ensembl chr  X:107,496,072...107,511,348
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
ClinVar PMID:1376966, PMID:1384324, PMID:1605230, PMID:1707231, PMID:1715570, PMID:2479017, PMID:2480601, PMID:2773936, PMID:3827224, PMID:7573159, PMID:7574457, PMID:7683951, PMID:8696336, PMID:8786077, PMID:9056547, PMID:9482656, PMID:11071483, PMID:12910435, PMID:19396823, PMID:20301361, PMID:24088041, PMID:25326635, PMID:25491635, PMID:25741868, PMID:26125040, PMID:26633545, PMID:28492532, PMID:29451896 NCBI chr  X:107,531,404...107,542,510
Ensembl chr  X:107,531,404...107,542,510
JBrowse link
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency
ClinVar Annotator: match by term: ACOX1-related condition
ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
ClinVar Annotator: match by OMIM:264470
OMIM
ClinVar
PMID:2894756, PMID:8040306, PMID:8279468, PMID:11815777, PMID:17458872, PMID:18536048, PMID:24033266, PMID:25326637, PMID:25741868, PMID:26965209, PMID:28492532, PMID:32169171 NCBI chr10:104,724,534...104,748,003
Ensembl chr10:104,722,958...104,748,050
JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar NCBI chr10:105,073,077...105,095,094
Ensembl chr10:105,073,077...105,095,094
JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex5 peroxisomal biogenesis factor 5 ISO OMIM NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
phosphoglycerate kinase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Phosphoglycerate kinase 1 deficiency
ClinVar Annotator: match by OMIM:300653
OMIM
ClinVar
PMID:411673, PMID:1547346, PMID:1586722, PMID:2001457, PMID:3840329, PMID:4676843, PMID:5764452, PMID:6770677, PMID:6933565, PMID:7391028, PMID:7577653, PMID:8043870, PMID:9512313, PMID:9744480, PMID:16412025, PMID:16567715, PMID:16671097, PMID:16740138, PMID:19157875, PMID:25741868, PMID:28492532 NCBI chr  X:77,263,399...77,279,373
Ensembl chr  X:77,263,359...77,279,367
JBrowse link
phosphoribosylpyrophosphate synthetase superactivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Phosphoribosylpyrophosphate synthetase superactivity
ClinVar Annotator: match by OMIM:300661
OMIM
ClinVar
PMID:171280, PMID:6243137, PMID:7593598, PMID:8253776, PMID:8498830, PMID:8968763, PMID:12847698, PMID:15955956, PMID:17701896, PMID:20021999, PMID:20380929, PMID:24033266, PMID:24285972, PMID:24528855, PMID:25491489, PMID:25741868, PMID:25785835, PMID:26089585, PMID:28492532 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
JBrowse link
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement ClinVar NCBI chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement
ClinVar Annotator: match by OMIM:248190
OMIM
ClinVar
PMID:17033971, PMID:18188451, PMID:22422540, PMID:27530400, PMID:28492532 NCBI chr 5:138,300,692...138,307,982
Ensembl chr 5:138,300,107...138,305,683
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 2:68,820,616...68,895,537 JBrowse link
Renpenning syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Renpenning syndrome 1
ClinVar Annotator: match by OMIM:309500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:6711604, PMID:9545405, PMID:13981686, PMID:15024694, PMID:15782410, PMID:16493439, PMID:16740914, PMID:20410308, PMID:20950397, PMID:21315190, PMID:21836667, PMID:24088041, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26633545, PMID:28492532, PMID:30311386 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
JBrowse link
retinitis pigmentosa 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Retinitis Pigmentosa 23 ClinVar
OMIM
PMID:10892847, PMID:22619378 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Ritscher-schinzel syndrome 2
ClinVar Annotator: match by term: RITSCHER-SCHINZEL SYNDROME 2
OMIM
ClinVar
PMID:19377476, PMID:21826058, PMID:24916641, PMID:25741868 NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925
JBrowse link
severe congenital encephalopathy due to MECP2 mutation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,873,094...156,888,762
Ensembl chr  X:156,873,849...156,888,761
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,407,973...156,415,053
Ensembl chr  X:156,407,937...156,415,145
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,319,687...156,328,974
Ensembl chr  X:156,319,687...156,328,309
JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,392,646...156,399,763
Ensembl chr  X:156,392,630...156,399,760
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations
ClinVar Annotator: match by OMIM:300673
OMIM
ClinVar
CTD
PMID:1057790, PMID:1105898, PMID:1191367, PMID:1241840, PMID:2460487, PMID:5300597, PMID:8177735, PMID:9546328, PMID:10232754, PMID:10508514, PMID:10577905, PMID:10745042, PMID:10767337, PMID:10805343, PMID:10814718, PMID:10814719, PMID:10852707, PMID:10854091, PMID:10944834, PMID:10944854, PMID:10986043, PMID:10991688, PMID:10991689, PMID:11007980, PMID:11035019, PMID:11055848, PMID:11055878, PMID:11055898, PMID:11058114, PMID:11071498, PMID:11106359, PMID:11214906, PMID:11227330, PMID:11238684, PMID:11241840, PMID:11245712, PMID:11269512, PMID:11283201, PMID:11283202, PMID:11309367, PMID:11309679, PMID:11313756, PMID:11313764, PMID:11331619, PMID:11376998, PMID:11392517, PMID:11402105, PMID:11446411, PMID:11453972, PMID:11462237, PMID:11469283, PMID:11524741, PMID:11738860, PMID:11738864, PMID:11738865, PMID:11738866, PMID:11738879, PMID:11738883, PMID:11738885, PMID:11746022, PMID:11772708, PMID:11805248, PMID:11885030, PMID:11896459, PMID:11896461, PMID:11913564, PMID:11913567, PMID:11930274, PMID:11960578, PMID:12065946, PMID:12075485, PMID:12081725, PMID:12111643, PMID:12111644, PMID:12161600, PMID:12180070, PMID:12210319, PMID:12325019, PMID:12325033, PMID:12384770, PMID:12418965, PMID:12555243, PMID:12566531, PMID:12567420, PMID:12615169, PMID:12655490, PMID:12673788, PMID:12707062, PMID:12707946, PMID:12746405, PMID:12746406, PMID:12750821, PMID:12770674, PMID:12843318, PMID:12872250, PMID:12872251, PMID:12966523, PMID:14536082, PMID:14560307, PMID:14598336, PMID:14649554, PMID:14974082, PMID:14986829, PMID:15034579, PMID:15057977, PMID:15070486, PMID:15173251, PMID:15211631, PMID:15228575, PMID:15287421, PMID:15351775, PMID:15389714, PMID:15492925, PMID:15526954, PMID:15557528, PMID:15558314, PMID:15578581, PMID:15689435, PMID:15689438, PMID:15712379, PMID:15737703, PMID:15857422, PMID:15866439, PMID:15875198, PMID:16077729, PMID:16077736, PMID:16080119, PMID:16122633, PMID:16155192, PMID:16169931, PMID:16182490, PMID:16183801, PMID:16225173, PMID:16376510, PMID:16473305, PMID:16629931, PMID:16672765, PMID:16690727, PMID:16708070, PMID:16763963, PMID:16832102, PMID:16844334, PMID:16879196, PMID:16905679, PMID:16965328, PMID:17084570, PMID:17088400, PMID:17089071, PMID:17142618, PMID:17172942, PMID:17236109, PMID:17267601, PMID:17276711, PMID:17341617, PMID:17351020, PMID:17370310, PMID:17383248, PMID:17387578, PMID:17420824, PMID:17427193, PMID:17440498, PMID:17505203, PMID:17712354, PMID:17881312, PMID:17914728, PMID:17968969, PMID:17986102, PMID:18021529, PMID:18174548, PMID:18174559, PMID:18190595, PMID:18332345, PMID:18334558, PMID:18337588, PMID:18414213, PMID:18477000, PMID:18499664, PMID:18562141, PMID:18572337, PMID:18652533, PMID:18678449, PMID:18810657, PMID:18842453, PMID:18989701, PMID:19133691, PMID:19168818, PMID:19189931, PMID:19217433, PMID:19309269, PMID:19309283, PMID:19371229, PMID:19442733, PMID:19552836, PMID:19573459, PMID:19652677, PMID:19722030, PMID:19724012, PMID:19914908, PMID:20031356, PMID:20093853, PMID:20098342, PMID:20108430, PMID:20116947, PMID:20142466, PMID:20151026, PMID:20231667, PMID:20301670, PMID:20376788, PMID:20384458, PMID:20479760, PMID:20625242, PMID:20631224, PMID:20661168, PMID:21154482, PMID:21160487, PMID:21178819, PMID:21372149, PMID:21420494, PMID:21575601, PMID:21695138, PMID:21764336, PMID:21831886, PMID:21871116, PMID:21878110, PMID:21940684, PMID:21954873, PMID:21982064, PMID:22182064, PMID:22213695, PMID:22277191, PMID:22368975, PMID:22382802, PMID:22476991, PMID:22497713, PMID:22525432, PMID:22561697, PMID:22578097, PMID:22923521, PMID:23220634, PMID:23238081, PMID:23260135, PMID:23262346, PMID:23270700, PMID:23421866, PMID:23452848, PMID:23591336, PMID:23696494, PMID:23770565, PMID:23770587, PMID:23810759, PMID:23859859, PMID:23921973, PMID:24033266, PMID:24283265, PMID:24328834, PMID:24399845, PMID:24458799, PMID:24508304, PMID:24511209, PMID:24626160, PMID:24715477, PMID:24743294, PMID:24776741, PMID:24916645, PMID:24970834, PMID:25165434, PMID:25167861, PMID:25326635, PMID:25473036, PMID:25541993, PMID:25634563, PMID:25644311, PMID:25741868, PMID:26175308, PMID:26254891, PMID:26350204, PMID:26418480, PMID:26467025, PMID:26490184, PMID:26604147, PMID:26647311, PMID:26741492, PMID:26755454, PMID:26842955, PMID:26930212, PMID:26931468, PMID:26936630, PMID:26984561, PMID:27159028, PMID:27255190, PMID:27354166, PMID:27442528, PMID:27465203, PMID:27799067, PMID:27824329, PMID:27929079, PMID:28250423, PMID:28492532, PMID:28544139, PMID:28785396, PMID:29655203, PMID:29720203, PMID:30311386, PMID:30536762, PMID:32214227, PMID:32581362, PMID:32860008 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,863,655...156,868,950
Ensembl chr  X:156,863,754...156,868,950
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,569,683...156,589,907
Ensembl chr  X:156,569,683...156,589,907
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,963,343...156,993,591
Ensembl chr  X:156,963,870...156,993,591
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,363,400...156,379,433
Ensembl chr  X:156,363,405...156,379,189
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,438,251...156,440,461
Ensembl chr  X:156,438,251...156,440,461
JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,335,385...156,340,256
Ensembl chr  X:156,336,450...156,340,234
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:157,008,773...157,014,342
Ensembl chr  X:157,008,824...157,013,443
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,540,442...156,569,272
Ensembl chr  X:156,552,528...156,569,249
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,507,797...156,540,733
Ensembl chr  X:156,507,797...156,540,733
JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532 NCBI chr  X:156,340,919...156,343,771
Ensembl chr  X:156,340,925...156,343,777
JBrowse link
Shukla-Vernon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: SHUKLA-VERNON SYNDROME ClinVar
OMIM
PMID:25741868, PMID:30941876 NCBI chr  X:135,187,468...135,233,859
Ensembl chr  X:135,187,468...135,233,839
JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 onset ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1
ClinVar Annotator: match by term: Hereditary sideroblastic anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)
ClinVar Annotator: match by OMIM:300751
OMIM
ClinVar
CTD
PMID:1570328, PMID:7705839, PMID:7949148, PMID:8107717, PMID:9488633, PMID:9858242, PMID:10029606, PMID:10444183, PMID:11110715, PMID:12031592, PMID:12531813, PMID:12663458, PMID:16121195, PMID:16446107, PMID:18637800, PMID:18823803, PMID:20848343, PMID:21653323, PMID:22269113, PMID:22740690, PMID:22778251, PMID:22995991, PMID:23315997, PMID:25741868, PMID:28492532, PMID:21252495, PMID:11110715, PMID:7560104 RGD:11035244, RGD:11035243, RGD:11035241 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:23,146,085...23,166,676
Ensembl chr  X:23,146,085...23,166,675
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 1 ClinVar PMID:28492532 NCBI chr 8:128,790,348...128,802,988
Ensembl chr 8:128,790,348...128,802,989
JBrowse link
Simpson-Golabi-Behmel syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome
ClinVar Annotator: match by OMIM:312870
OMIM
ClinVar
PMID:9950367, PMID:10814714, PMID:16158429, PMID:17603795, PMID:17850639, PMID:18203194, PMID:19215053, PMID:23606591, PMID:24459012, PMID:25741868, PMID:26321508, PMID:28492532 NCBI chr  X:139,579,268...139,947,093
Ensembl chr  X:139,579,268...139,916,883
JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:139,354,325...139,464,876
Ensembl chr  X:139,354,155...139,464,798
JBrowse link
G Retsat retinol saturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chr 4:100,465,365...100,474,128
Ensembl chr 4:100,465,170...100,474,301
JBrowse link
Simpson-Golabi-Behmel syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome, type 2
ClinVar Annotator: match by OMIM:300209
OMIM
ClinVar
PMID:16783569, PMID:25741868 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
spondyloepiphyseal dysplasia tarda term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc2 trafficking protein particle complex 2 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda ClinVar
OMIM
PMID:9990351, PMID:10431248, PMID:10999831, PMID:11326333, PMID:11424925, PMID:12030902, PMID:12446987, PMID:12919139, PMID:14755465, PMID:18414213, PMID:23656395, PMID:25741868 NCBI chr  X:29,550,871...29,562,135
Ensembl chr  X:29,550,873...29,556,610
JBrowse link
syndactyly type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf16 fibroblast growth factor 16 ISO ClinVar Annotator: match by term: Metacarpal 4-5 fusion OMIM
ClinVar
PMID:23709756, PMID:24878828 NCBI chr  X:76,786,728...76,796,311
Ensembl chr  X:76,786,466...76,797,069
JBrowse link
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Pettigrew syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mental retardation X-linked syndromic 5
ClinVar Annotator: match by OMIM:304340
OMIM
ClinVar
CTD
PMID:2018058, PMID:5054319, PMID:10398241, PMID:12599187, PMID:17186471, PMID:17617514, PMID:18414213, PMID:23756445, PMID:25741868 NCBI chr  X:32,329,883...32,376,301
Ensembl chr  X:32,329,598...32,355,307
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:124,831,391...124,870,329
Ensembl chr  X:124,832,628...124,870,329
JBrowse link
syndromic X-linked intellectual disability Claes-Jensen type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Mental retardation, syndromic, Claes-Jensen type, X-linked
ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Claes-Jensen type
ClinVar Annotator: match by OMIM:300534
DNA:snp:cds:c.2T>C (human)
OMIM
ClinVar
PMID:1605217, PMID:10982473, PMID:15586325, PMID:16538222, PMID:16541399, PMID:17320160, PMID:17468742, PMID:18203167, PMID:18414213, PMID:18697827, PMID:19826449, PMID:21575681, PMID:23356856, PMID:23999528, PMID:24583395, PMID:25666439, PMID:25741868, PMID:26919706, PMID:27421841, PMID:28492532, PMID:28708303, PMID:22326837 RGD:9587779 NCBI chr  X:22,302,664...22,349,298
Ensembl chr  X:22,302,485...22,348,627
JBrowse link
syndromic X-linked intellectual disability Siderius type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf8 PHD finger protein 8 ISO ClinVar Annotator: match by term: Siderius X-linked mental retardation syndrome
ClinVar Annotator: match by OMIM:300263
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:10398231, PMID:16199551, PMID:17594395, PMID:17661819, PMID:25741868, PMID:28492532 NCBI chr  X:21,063,487...21,168,750
Ensembl chr  X:21,063,562...21,168,750
JBrowse link
syndromic X-linked intellectual disability Snyder type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sms spermine synthase ISO ClinVar Annotator: match by OMIM:309583
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Snyder type
ClinVar Annotator: match by term: Snyder Robinson syndrome
ClinVar
OMIM
PMID:5823961, PMID:14508504, PMID:18550699, PMID:19206178, PMID:19377476, PMID:22612257, PMID:23696453, PMID:23897707, PMID:25741868, PMID:25888122, PMID:26174906, PMID:26467025, PMID:28492532, PMID:31580924 NCBI chr  X:40,363,646...40,415,110
Ensembl chr  X:40,363,646...40,415,109
JBrowse link
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Mental retardation, X-linked, with growth retardation, deafness, and microgenitalism ClinVar PMID:9326931, PMID:16955409, PMID:20500465, PMID:24327140, PMID:25741868, PMID:28492532 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by OMIM:300706
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Turner type
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, turner type
ClinVar Annotator: match by term: MENTAL RETARDATION AND MACROCEPHALY SYNDROME
ClinVar
OMIM
PMID:6107045, PMID:7943042, PMID:7943044, PMID:16700052, PMID:18252223, PMID:25326635, PMID:25326637, PMID:25741868, PMID:25741869, PMID:25985138, PMID:27130160, PMID:27884935, PMID:28492532, PMID:29180823, PMID:29651030, PMID:30797980 NCBI chr  X:21,474,627...21,603,348
Ensembl chr  X:21,499,934...21,598,876
JBrowse link
syndromic X-linked mental retardation 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 ClinVar
OMIM
PMID:7626060, PMID:18258260, PMID:25316788, PMID:25741868, PMID:25846674, PMID:26290468 NCBI chr  X:156,438,251...156,440,461
Ensembl chr  X:156,438,251...156,440,461
JBrowse link
Van Esch-O'Driscoll syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: X-linked intellectual disability, Van Esch type
ClinVar Annotator: match by term: VAN ESCH-O''''DRISCOLL SYNDROME
ClinVar
OMIM
PMID:31006512 NCBI chr  X:62,382,604...62,698,830
Ensembl chr  X:62,382,608...62,698,830
JBrowse link
Waisman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Parkinsonism, early onset with mental retardation ClinVar PMID:25434005 NCBI chr20:295,338...310,363
Ensembl chr20:295,250...310,380
JBrowse link
Wilson-Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac8 histone deacetylase 8 ISO DNA:snp:intron:c.164+5G>A (human) RGD PMID:22889856 RGD:13208817 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO ClinVar Annotator: match by OMIM:309585
ClinVar Annotator: match by term: Wilson-Turner X-linked mental retardation syndrome
ClinVar
OMIM
PMID:1746601, PMID:25644381, PMID:25741868, PMID:28492532 NCBI chr  X:65,081,591...65,102,344
Ensembl chr  X:65,081,591...65,102,380
JBrowse link
Wiskott-Aldrich syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp3 forkhead box P3 ISS OMIM:301000 | OMIM:614493 MouseDO NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1
ClinVar Annotator: match by term: Aldrich syndrome
OMIM
ClinVar
CTD
PMID:2906042, PMID:7579347, PMID:7735919, PMID:7753869, PMID:8069912, PMID:8528198, PMID:8528199, PMID:8595430, PMID:8666397, PMID:8673127, PMID:8682510, PMID:8757563, PMID:9126958, PMID:9326235, PMID:9657775, PMID:10202051, PMID:10447259, PMID:10653325, PMID:10691337, PMID:10737997, PMID:11167787, PMID:11298372, PMID:11442475, PMID:11598004, PMID:11793485, PMID:12073025, PMID:12199801, PMID:12351383, PMID:12437929, PMID:12727931, PMID:12969986, PMID:14504083, PMID:14566484, PMID:14612666, PMID:15284122, PMID:15497008, PMID:16091449, PMID:16511828, PMID:16638962, PMID:17065640, PMID:17213309, PMID:17250667, PMID:17390083, PMID:17400488, PMID:17703096, PMID:18162713, PMID:19308710, PMID:19817875, PMID:20173115, PMID:20959042, PMID:21185603, PMID:21771083, PMID:22523910, PMID:23033889, PMID:23160469, PMID:24210885, PMID:24728327, PMID:25741868, PMID:25931402, PMID:26261240, PMID:27264129, PMID:27993330, PMID:28492532, PMID:28641574, PMID:28931895, PMID:30981783, PMID:31064749, PMID:8069912 RGD:1599803 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:60,150,001...60,207,125
Ensembl chr 3:60,150,021...60,166,013
JBrowse link
Wiskott-Aldrich Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wipf1 WAS/WASL interacting protein family, member 1 ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:22231303, PMID:24033266, PMID:27742395, PMID:28492532 NCBI chr 3:60,150,001...60,207,125
Ensembl chr 3:60,150,021...60,166,013
JBrowse link
X-linked Aarskog syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked mental retardation 16
DNA:deletion:cds:c.2189delA (human)
DNA:nonsense mutation:cds:p.W447X (human)
DNA:mutations:multiple (human)
DNA:insertion:cds:c.2121_2122insG (human)
OMIM
ClinVar
PMID:11940089, PMID:25741868, PMID:28492532, PMID:16353258, PMID:23211637, PMID:20082460, PMID:7954831 RGD:11554031, RGD:11554030, RGD:11554029, RGD:11554024 NCBI chr  X:20,100,942...20,143,871
Ensembl chr  X:20,216,587...20,225,955
Ensembl chr  X:20,216,587...20,225,955
JBrowse link
X-linked adrenal hypoplasia congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Fthl17e ferritin, heavy polypeptide-like 17, member E ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:53,628,946...53,629,936
Ensembl chr  X:53,629,255...53,629,803
JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,227,291...54,303,897
Ensembl chr  X:54,227,397...54,303,864
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia ClinVar PMID:10338095, PMID:10737981, PMID:15714521, PMID:16941474, PMID:17309651, PMID:17664528, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:55,439,388...57,004,865
Ensembl chr  X:55,439,578...56,765,893
JBrowse link
G Mageb1 melanoma antigen family B, 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,892,482...54,931,144 JBrowse link
G Mageb2 MAGE family member B2 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,804,987...54,806,956 JBrowse link
G Mageb3 MAGE family member B3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,843,202...54,844,197
Ensembl chr  X:54,843,096...54,844,197
JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar
OMIM
PMID:6891556, PMID:7990953, PMID:7990958, PMID:8636263, PMID:8855822, PMID:9003500, PMID:9195207, PMID:9360549, PMID:9415399, PMID:10361383, PMID:10522996, PMID:10599709, PMID:10675358, PMID:10848616, PMID:11113848, PMID:11549627, PMID:11788621, PMID:12519885, PMID:12629128, PMID:17504899, PMID:18339285, PMID:20573681, PMID:21408189, PMID:21739173, PMID:23384712, PMID:23512386, PMID:25741868, PMID:28492532, PMID:28546232 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513
JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,035,958...54,090,282
Ensembl chr  X:54,062,935...54,086,339
JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,390,733...54,409,466
Ensembl chr  X:54,390,733...54,409,466
JBrowse link
X-linked agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1
ClinVar Annotator: match by term: Hypoagammaglobulinemia, X-linked
ClinVar Annotator: match by OMIM:300755
DNA:mutations:exon, intron:multiple
OMIM
ClinVar
PMID:2896233, PMID:4697357, PMID:7554467, PMID:7633429, PMID:7678697, PMID:7711734, PMID:7809124, PMID:7849697, PMID:7849721, PMID:7880320, PMID:8090769, PMID:8162056, PMID:8164701, PMID:8164707, PMID:8380905, PMID:8594569, PMID:8644706, PMID:8695804, PMID:8939985, PMID:9106525, PMID:9143921, PMID:9188445, PMID:9260159, PMID:9445504, PMID:9524120, PMID:9545398, PMID:9880544, PMID:10092645, PMID:10678660, PMID:10737994, PMID:10859027, PMID:10887125, PMID:11102984, PMID:11206059, PMID:11410123, PMID:11445810, PMID:11472359, PMID:11527964, PMID:11555397, PMID:11564824, PMID:11586956, PMID:11668622, PMID:11742281, PMID:11809909, PMID:12204007, PMID:12217331, PMID:12405164, PMID:12655572, PMID:12768435, PMID:14974089, PMID:15661032, PMID:16160918, PMID:16712653, PMID:16751014, PMID:16862044, PMID:16951917, PMID:17045652, PMID:17164954, PMID:17327079, PMID:17765309, PMID:18241230, PMID:18518992, PMID:18677443, PMID:19039656, PMID:19419768, PMID:19904586, PMID:21397315, PMID:24001798, PMID:24033266, PMID:24820629, PMID:24885015, PMID:25741868, PMID:26915675, PMID:27512878, PMID:27577878, PMID:28492532, PMID:29424453, PMID:29503650, PMID:30072168, PMID:30564228, PMID:30627929, PMID:12655572, PMID:15024743 RGD:11040698, RGD:11040588 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISS OMIM:300310 | OMIM:300755 MouseDO NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
X-linked chondrodysplasia punctata 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arse arylsulfatase E ISO ClinVar Annotator: match by term: Chondrodysplasia punctata 1, X-linked recessive
ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2722194, PMID:7720070, PMID:9409863, PMID:9497243, PMID:9863597, PMID:12567415, PMID:18348268, PMID:18414213, PMID:23470839, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386, PMID:32860008 NCBI chr 2:122,876,645...122,884,673
Ensembl chr 2:122,877,286...122,884,360
JBrowse link