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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:X-linked recessive disease
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Accession:DOID:0080012 term browser browse the term
Definition:A X-linked monogenic disease that has_material_basis_in recessive inheritance. (DO)
Synonyms:exact_synonym: X-linked recessive inheritance
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 susceptibility ISO ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE
ClinVar Annotator: match by term: 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:14586615 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:16672758 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:28708278 PMID:28953922 PMID:29056270 PMID:29284317 PMID:29443243 PMID:29557549 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: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:8484404 PMID:12871948 PMID:14661163 PMID:15889350 PMID:15980113 PMID:18187543 PMID:18414213 PMID:23568789 PMID:24265446 PMID:24721225 PMID:25167861 PMID:25527620 PMID:25741868 PMID:27212794 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:12632325 PMID:17259292 PMID:19206170 PMID:19793655 PMID:19937601 PMID:21396098 PMID:21399986 PMID:22910583 PMID:23757202 PMID:24033266 PMID:25447171 PMID:25637381 PMID:25741868 PMID:26467025 PMID:27708273 PMID:28492532 PMID:28878402 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 term: CK syndrome
ClinVar Annotator: match by OMIM:300831
OMIM
ClinVar
PMID:19377476 PMID:21129721 PMID:25741868 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 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y ClinVar 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: 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:25741868 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:11281458 PMID:12111638 PMID:12187427 PMID:12719097 PMID:15897456 PMID:23714322 PMID:24033266 PMID:25307992 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
developmental and epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16b abhydrolase domain containing 16B ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,985,900...176,987,797
Ensembl chr 3:176,985,900...176,987,796
JBrowse link
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr  X:115,561,329...115,589,792
Ensembl chr  X:115,561,332...115,619,505
JBrowse link
G Arfrp1 ADP-ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,857,667...176,865,105
Ensembl chr 3:176,859,151...176,865,103
JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:23647072 PMID:25741868 PMID:28492532 NCBI chr10:55,532,097...55,545,675
Ensembl chr10:55,532,077...55,544,429
JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human)
ClinVar Annotator: match by OMIM:308350
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12177367 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12640086 PMID:12874418 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:16523516 PMID:17331656 PMID:17480217 PMID:17641262 PMID:17668384 PMID:18414213 PMID:18462864 PMID:19507262 PMID:19606478 PMID:19738637 PMID:20148114 PMID:20300201 PMID:20506206 PMID:21108397 PMID:21204215 PMID:21204226 PMID:21496008 PMID:22922607 PMID:23039062 PMID:23246292 PMID:23757202 PMID:24643514 PMID:24781210 PMID:25741868 PMID:26029707 PMID:26337422 PMID:26467025 PMID:28492532 PMID:29152528 PMID:30255221 PMID:31623504 PMID:32313153, PMID:17664401, PMID:19587282 RGD:11565846, RGD:11565838 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,408,076...11,410,907
Ensembl chr 3:11,408,348...11,410,732
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18487195 PMID:23339110 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30410802 NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,255,118...214,263,848
Ensembl chr 1:214,255,110...214,263,581
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,742,269...11,747,117
Ensembl chr 3:11,742,266...11,747,113
JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,407,072...214,410,069
Ensembl chr 1:214,408,100...214,408,549
JBrowse link
G Cercam cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,421,116...8,444,743
Ensembl chr 3:8,430,829...8,444,851
JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,813,575...11,820,549
Ensembl chr 3:11,813,575...11,820,549
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,349,386...8,357,719
Ensembl chr 3:8,349,185...8,357,871
JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 7:120,651,976...120,675,559
Ensembl chr 7:120,651,881...120,672,359
JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:51,883,559...52,120,290
Ensembl chr 3:51,883,559...52,120,290
JBrowse link
G Cyb561d2 cytochrome b561 family, member D2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18487195 PMID:23339110 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:116,295,328...116,297,879
Ensembl chr 8:116,295,329...116,297,858
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,587,941...11,590,528
Ensembl chr 3:11,587,941...11,590,528
JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,327,992...214,353,466
Ensembl chr 1:214,328,071...214,353,461
JBrowse link
G Fam102a family with sequence similarity 102, member A ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,554,084...11,586,315
Ensembl chr 3:11,554,457...11,586,303
JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,721,100...176,724,736
Ensembl chr 3:176,721,827...176,725,837
JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,717,667...11,729,694
Ensembl chr 3:11,717,667...11,723,327
JBrowse link
G Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:29422393 NCBI chr14:39,662,411...39,801,082
Ensembl chr14:39,661,968...39,798,302
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412
JBrowse link
G Gatd1 glutamine amidotransferase like class 1 domain containing 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,389,006...214,394,451
Ensembl chr 1:214,389,255...214,394,411
JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,756,006...176,791,960
Ensembl chr 3:176,753,860...176,791,960
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
ClinVar PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:26467025 PMID:26485252 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28688840 PMID:28747448 PMID:28817111 PMID:29390993 PMID:32581362 NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
JBrowse link
G Golga2 golgin A2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,317,328...11,337,569
Ensembl chr 3:11,317,183...11,336,458
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:25741868 PMID:31422819 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
CTD
ClinVar
PMID:20437590 PMID:22131395 PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 PMID:28488083 PMID:28492532 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,730,024...176,744,382
Ensembl chr 3:176,731,769...176,744,377
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,249,388...214,252,909
Ensembl chr 1:214,248,837...214,252,456
JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532 NCBI chr 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:25741868 NCBI chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
JBrowse link
G Kcnh5 potassium voltage-gated channel subfamily H member 5 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:23647072 PMID:24133262 PMID:25741868 PMID:28492532 NCBI chr 6:97,872,831...98,157,087
Ensembl chr 6:97,872,831...98,157,087
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
ClinVar PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 PMID:9872318 PMID:10482260 PMID:10774989 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12742592 PMID:12754513 PMID:14534157 PMID:14985406 PMID:15596469 PMID:16039833 PMID:16199547 PMID:16597729 PMID:16916607 PMID:17475800 PMID:17576681 PMID:17872363 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:19822871 PMID:20119593 PMID:21685056 PMID:21937445 PMID:22013194 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24371303 PMID:24375629 PMID:24463883 PMID:24586341 PMID:24759409 PMID:24811917 PMID:24904429 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25590979 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25951140 PMID:25959266 PMID:25982755 PMID:26007637 PMID:26073431 PMID:26138355 PMID:26148514 PMID:26446091 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26758118 PMID:26993267 PMID:27334371 PMID:27466704 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27781031 PMID:27861786 PMID:27864847 PMID:27888506 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28420012 PMID:28492532 PMID:28602030 PMID:28687180 PMID:28717674 PMID:28867141 PMID:28926830 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29314763 PMID:29390993 PMID:29429461 PMID:29644095 PMID:29655203 PMID:29720203 PMID:29933521 PMID:30109124 PMID:30126342 PMID:30174244 PMID:30185235 PMID:30478917 PMID:31152295 PMID:31199083 PMID:32488064 PMID:32581362 PMID:32860008 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,881,881...176,888,230
Ensembl chr 3:176,882,027...176,884,350
JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,197,126...214,202,828
Ensembl chr 1:214,196,430...214,202,853
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29390993 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,208,355...214,208,464 JBrowse link
G Mir2964 microRNA 2964 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,407,427...8,407,526
Ensembl chr 3:8,407,427...8,407,526
JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,476,330...11,482,629
Ensembl chr 3:11,476,883...11,481,744
JBrowse link
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 3:143,017,571...143,063,904
Ensembl chr 3:143,020,454...143,063,983
JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar NCBI chr 1:221,792,191...221,908,047
Ensembl chr 1:221,792,221...221,908,049
JBrowse link
G Odf2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,449,733...8,495,764
Ensembl chr 3:8,450,275...8,496,008
JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,215,673...214,248,906
Ensembl chr 1:214,215,992...214,248,901
JBrowse link
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28334793 PMID:31139695 PMID:32042915 NCBI chr11:34,592,128...34,598,253
Ensembl chr11:34,592,121...34,598,275
JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,592,156...11,597,513
Ensembl chr 3:11,593,655...11,597,410
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
JBrowse link
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:28492532 NCBI chr  X:62,382,604...62,698,830
Ensembl chr  X:62,382,608...62,698,830
JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,690,507...176,692,272
Ensembl chr 3:176,691,329...176,692,271
JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,424,195...11,431,379
Ensembl chr 3:11,424,099...11,431,402
JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,698,305...176,706,896
Ensembl chr 3:176,698,305...176,706,896
JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,811,303...11,817,007
Ensembl chr 3:11,811,962...11,825,640
JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,202,722...214,205,799
Ensembl chr 1:214,203,861...214,205,782
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
ClinVar PMID:1868258 PMID:1893099 PMID:9126059 PMID:9536098 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12535936 PMID:12566275 PMID:12576172 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15277629 PMID:15508916 PMID:15694566 PMID:16075041 PMID:16199547 PMID:16210358 PMID:16458823 PMID:16541393 PMID:16713913 PMID:16713920 PMID:16865694 PMID:17054684 PMID:17054685 PMID:17129991 PMID:17166794 PMID:17347258 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17679682 PMID:17903680 PMID:18021921 PMID:18056581 PMID:18076640 PMID:18330841 PMID:18413471 PMID:18414213 PMID:18479393 PMID:18554359 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19303743 PMID:19359143 PMID:19400878 PMID:19522081 PMID:19563349 PMID:19585586 PMID:19589774 PMID:19763161 PMID:19782004 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20738378 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21416599 PMID:21425109 PMID:21692795 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21844054 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22011963 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:23016767 PMID:23086956 PMID:23103419 PMID:23184456 PMID:23195492 PMID:23398550 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23934111 PMID:24097157 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24337656 PMID:24472396 PMID:24502503 PMID:24623842 PMID:24656210 PMID:24679980 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25524840 PMID:25576396 PMID:25669891 PMID:25741868 PMID:25818041 PMID:25885068 PMID:26068938 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26252084 PMID:26339958 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27029629 PMID:27066544 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27652284 PMID:27781031 PMID:27864847 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28492532 PMID:28544625 PMID:28708303 PMID:28794249 PMID:28842445 PMID:28951233 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29142202 PMID:29186148 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29739726 PMID:29760947 PMID:29852413 PMID:30146492 PMID:30182498 PMID:30321769 PMID:30525188 PMID:30558019 PMID:30619928 PMID:30659983 PMID:30977726 PMID:31001185 PMID:31009440 PMID:31439038 PMID:31782251 PMID:31791873 PMID:32238909 PMID:32581362 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25568300 PMID:25741868 PMID:25785782 PMID:25849321 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235739 PMID:26297079 PMID:26467025 PMID:26647175 PMID:26900580 PMID:26993267 PMID:27210545 PMID:27779742 PMID:27781031 PMID:27864847 PMID:27875746 PMID:27900360 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28702509 PMID:28735751 PMID:28923014 PMID:29100083 PMID:29121005 PMID:29186148 PMID:29432985 PMID:29588952 PMID:29655203 PMID:29720203 PMID:30109124 PMID:30171078 PMID:30615093 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28202706 PMID:28492532 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,264,865...214,277,437
Ensembl chr 1:214,264,754...214,265,668
JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,756,427...11,793,547
Ensembl chr 3:11,756,384...11,793,593
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28255779 PMID:28492532 NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,442,396...11,476,186
Ensembl chr 3:11,442,397...11,452,529
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
JBrowse link
G Slc2a4rg SLC2A4 regulator ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 NCBI chr  X:15,453,184...15,461,990
Ensembl chr  X:15,453,186...15,461,713
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18414213 PMID:18469812 PMID:22258530 PMID:25224718 PMID:25741868 PMID:26467025 PMID:26539891 PMID:26704558 PMID:26865513 PMID:28166811 PMID:28199897 PMID:28492532 PMID:29264391 PMID:29358611 PMID:29655203 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,709,742...176,716,146
Ensembl chr 3:176,709,743...176,716,146
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy
ClinVar PMID:18414213 PMID:23252400 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,607,103...11,619,595
Ensembl chr 3:11,607,225...11,619,593
JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,620,050...11,641,460
Ensembl chr 3:11,629,556...11,641,466
JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,808,016...176,816,108
Ensembl chr 3:176,808,017...176,816,162
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18414213 PMID:18469812 PMID:19557857 PMID:20876469 PMID:20887364 PMID:21762454 PMID:21770924 PMID:22211739 PMID:22495311 PMID:22722545 PMID:23409955 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25131622 PMID:25356970 PMID:25418441 PMID:25497044 PMID:25556537 PMID:25693842 PMID:25714420 PMID:25741868 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26544041 PMID:26633542 PMID:26648591 PMID:26795593 PMID:26865513 PMID:26918652 PMID:26993267 PMID:27069701 PMID:27171548 PMID:27184330 PMID:27779742 PMID:28133863 PMID:28387360 PMID:28387369 PMID:28492532 PMID:28628100 PMID:28947817 PMID:29186148 PMID:29264391 PMID:29314583 PMID:29896790 PMID:30109124 PMID:31255830 PMID:31474318 PMID:32238909 PMID:32581362 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Swi5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,307,981...11,317,049
Ensembl chr 3:11,307,981...11,317,049
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:31,105,784...31,181,573
Ensembl chr11:31,104,787...31,180,642
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:10574461 PMID:16855591 PMID:18414213 PMID:20727515 PMID:22277662 PMID:23184456 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24848745 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27541164 PMID:28072960 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:29100083 PMID:29358611 PMID:29671961 PMID:30108545 PMID:30180405 PMID:30311386 PMID:30335140 PMID:30776697 PMID:31112829 PMID:31257402 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:28492532 NCBI chr 1:214,317,300...214,326,293
Ensembl chr 1:214,317,682...214,326,294
JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,794,731...11,800,261
Ensembl chr 3:11,795,629...11,799,693
JBrowse link
G Tpd52l2 TPD52 like 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,989,333...177,009,425
Ensembl chr 3:176,989,672...177,008,419
JBrowse link
G Trub2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,338,479...8,348,746
Ensembl chr 3:8,338,484...8,348,746
JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:11,799,788...11,811,600
Ensembl chr 3:11,799,612...11,810,901
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 NCBI chr 8:112,578,607...112,594,192
Ensembl chr 8:112,578,590...112,594,261
JBrowse link
G Urm1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391 NCBI chr 3:8,389,024...8,405,868
Ensembl chr 3:8,389,024...8,405,868
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar PMID:11572989 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24456803 PMID:25403906 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25741868 PMID:26467025 PMID:27495153 PMID:27569545 PMID:27717089 PMID:27884173 PMID:28492532 PMID:29358611 PMID:29390993 PMID:29675105 PMID:29852413 PMID:29905011 NCBI chr19:46,761,353...47,695,247 JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,888,502...176,959,009
Ensembl chr 3:176,890,806...176,958,880
JBrowse link
G Zgpat zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089 NCBI chr 3:176,865,078...176,881,603
Ensembl chr 3:176,865,156...176,881,549
JBrowse link
developmental and epileptic encephalopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 8
ClinVar Annotator: match by OMIM:300607
OMIM
ClinVar
PMID:15215304 PMID:17893116 PMID:18414213 PMID:18615734 PMID:21633362 PMID:21731583 PMID:23033978 PMID:25678704 PMID:25741868 PMID:26467025 PMID:26834553 PMID:28492532 PMID:28589176 PMID:28708303 PMID:32860008 NCBI chr  X:64,249,576...64,428,444
Ensembl chr  X:64,248,278...64,428,592
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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystrophinopathies
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
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
CTD
ClinVar
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:2585468 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:8034300 PMID:8149204 PMID:8160755 PMID:8199594 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:8784808 PMID:8789442 PMID:8840119 PMID:9007319 PMID:9028449 PMID:9040743 PMID:9067763 PMID:9073314 PMID:9143930 PMID:9170407 PMID:9195228 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:10407857 PMID:10464635 PMID:10480348 PMID:10533061 PMID:10541573 PMID:10612827 PMID:10619712 PMID:10832829 PMID:10841222 PMID:10909857 PMID:10939566 PMID:11039581 PMID:11185740 PMID:11257468 PMID:11381192 PMID:11388892 PMID:11409318 PMID:11409421 PMID:11524473 PMID:11710958 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: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:16199547 PMID:16331671 PMID:16439068 PMID:16566881 PMID:16770791 PMID:16834926 PMID:16883524 PMID:16917894 PMID:16950195 PMID:17024373 PMID:17041906 PMID:17124406 PMID:17141273 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:19475718 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:23251671 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:28332368 PMID:28407826 PMID:28416588 PMID:28492532 PMID:28503591 PMID:28526893 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:29631625 PMID:29641567 PMID:29792937 PMID:29847600 PMID:29901616 PMID:29973226 PMID:30074247 PMID:30086531 PMID:30342905 PMID:30415094 PMID:30564623 PMID:30816495 PMID:30833962 PMID:31081998 PMID:31139960 PMID:31333075 PMID:31412794 PMID:31568572 PMID:31645977 PMID:31705731 PMID:31727011 PMID:32488064 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 Fthl17e ferritin, heavy polypeptide-like 17, member E ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar NCBI chr  X:53,628,946...53,629,936
Ensembl chr  X:53,629,255...53,629,803
JBrowse link
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: Duchenne muscular dystrophy ClinVar PMID:25503501 PMID:25741868 PMID:26467025 PMID:26845104 PMID:28259476 PMID:28492532 PMID:32547938 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: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:24689965 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25741868 PMID:26273176 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:24449199 PMID:24700731 PMID:25629078 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28166811 PMID:28492532 PMID:28813618 PMID:28976000 PMID:29364747 PMID:30426266 PMID:30974434 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: Factor VIII deficiency, congenital
ClinVar Annotator: match by term: Hemophilia A, 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:1851341 PMID:1908096 PMID:1908817 PMID:1923751 PMID:1924291 PMID:1969840 PMID:1973901 PMID:1979502 PMID:2104741 PMID:2104766 PMID:2105106 PMID:2105906 PMID:2106480 PMID:2107542 PMID:2109644 PMID:2110545 PMID:2121026 PMID:2121641 PMID:2125022 PMID:2159433 PMID:2473810 PMID:2493803 PMID:2495245 PMID:2498882 PMID:2506948 PMID:2510835 PMID:2563431 PMID:2567219 PMID:2831458 PMID:2833855 PMID:2835307 PMID:2861360 PMID:2887317 PMID:2901224 PMID:2907841 PMID:2986011 PMID:2987704 PMID:2993888 PMID:3035554 PMID:3097553 PMID:3122181 PMID:3131627 PMID:6253938 PMID:6438527 PMID:7579394 PMID:7662970 PMID:7728145 PMID:7794769 PMID:7959679 PMID:7984443 PMID:8011517 PMID:8052958 PMID:8054459 PMID:8069313 PMID:8281136 PMID:8307558 PMID:8322269 PMID:8449505 PMID:8485051 PMID:8490618 PMID:8497853 PMID:8547094 PMID:8576960 PMID:8584995 PMID:8639447 PMID:8644728 PMID:9184393 PMID:9326186 PMID:9452104 PMID:9569189 PMID:9594277 PMID:9792405 PMID:9829908 PMID:9886318 PMID:10215414 PMID:10338101 PMID:10404764 PMID:10519986 PMID:10609755 PMID:10896236 PMID:10910910 PMID:10910913 PMID:11102988 PMID:11110718 PMID:11189482 PMID:11298607 PMID:11341489 PMID:11410838 PMID:11442643 PMID:11554935 PMID:11713379 PMID:11748850 PMID:11843836 PMID:11857744 PMID:11858487 PMID:11918545 PMID:12139751 PMID:12204009 PMID:12351418 PMID:12406074 PMID:12871415 PMID:12884004 PMID:15471879 PMID:15569173 PMID:15625837 PMID:15710596 PMID:15735794 PMID:15741993 PMID:15810915 PMID:15921397 PMID:15996930 PMID:16051741 PMID:16128892 PMID:16173970 PMID:16601827 PMID:16769589 PMID:16786531 PMID:16834740 PMID:16972227 PMID:17209060 PMID:17222201 PMID:17445092 PMID:17498081 PMID:17550859 PMID:17610549 PMID:17610560 PMID:18034822 PMID:18184865 PMID:18217193 PMID:18371163 PMID:18387975 PMID:18403393 PMID:18479430 PMID:18565236 PMID:18600086 PMID:18691168 PMID:19369668 PMID:19377476 PMID:19456877 PMID:19473408 PMID:19473423 PMID:19719548 PMID:19719828 PMID:19740093 PMID:20028422 PMID:20102490 PMID:20108389 PMID:20193250 PMID:20300295 PMID:20301578 PMID:20331753 PMID:20331761 PMID:20431853 PMID:20533009 PMID:20800587 PMID:21070499 PMID:21217077 PMID:21371196 PMID:21462120 PMID:21645180 PMID:21645224 PMID:21645226 PMID:21689372 PMID:21751985 PMID:21838755 PMID:21883705 PMID:22103590 PMID:23534532 PMID:23625609 PMID:23711237 PMID:23809411 PMID:23812942 PMID:23913812 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:29296726 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:1680287 PMID:1864609 PMID:1873221 PMID:1968152 PMID:2066105 PMID:2087690 PMID:2198809 PMID:2220823 PMID:2472424 PMID:2752109 PMID:2773937 PMID:2929599 PMID:3181127 PMID:5298508 PMID:6603618 PMID:7482402 PMID:7873393 PMID:8055323 PMID:8091381 PMID:8257988 PMID:8314564 PMID:8320491 PMID:8470048 PMID:8680410 PMID:8772212 PMID:9222764 PMID:9450791 PMID:10094553 PMID:10595634 PMID:10698280 PMID:10739381 PMID:11122099 PMID:11328285 PMID:12588353 PMID:15569175 PMID:15921378 PMID:16051741 PMID:16643212 PMID:19699296 PMID:22103590 PMID:22544209 PMID:22639855 PMID:23093250 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 Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Hemophilia A ClinVar PMID:2563431 NCBI chr18:401,878...407,954
Ensembl chr18:402,295...407,954
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:10982179 PMID:17334363 PMID:18414213 PMID:23757202 PMID:24728327 PMID:25326637 PMID:25741868 PMID:26273451 PMID:26813965 PMID:28492532, 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:10405444 PMID:10982179 PMID:17334363 PMID:18414213 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20981778 PMID:23091001 PMID:23757202 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26273451 PMID:26338144 PMID:26813965 PMID:28369444 PMID:28492532 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:21609947 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:23165780 PMID:24893065 PMID:25741868 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:17689125 PMID:21634085 PMID:21646031 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:31508908, 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:7794769 PMID:8281136 PMID:8307558 PMID:8449505 PMID:8490618 PMID:8547094 PMID:8584995 PMID:8639447 PMID:8644728 PMID:9326186 PMID:9452104 PMID:9569189 PMID:9829908 PMID:9886318 PMID:10338101 PMID:10404764 PMID:10519986 PMID:10896236 PMID:10910910 PMID:11102988 PMID:11298607 PMID:11341489 PMID:11410838 PMID:11442643 PMID:11843836 PMID:11857744 PMID:12139751 PMID:12204009 PMID:12871415 PMID:15569173 PMID:15625837 PMID:15810915 PMID:15921397 PMID:15996930 PMID:16128892 PMID:16173970 PMID:16601827 PMID:16769589 PMID:16786531 PMID:16834740 PMID:16972227 PMID:17222201 PMID:17445092 PMID:17610549 PMID:18034822 PMID:18387975 PMID:18403393 PMID:18565236 PMID:18600086 PMID:18691168 PMID:19456877 PMID:19473408 PMID:19473423 PMID:19719828 PMID:20102490 PMID:20193250 PMID:20300295 PMID:20331753 PMID:20533009 PMID:20800587 PMID:21070499 PMID:21371196 PMID:21751985 PMID:21838755 PMID:21883705 PMID:23625609 PMID:23812942 PMID:25741868 PMID:25824987 PMID:29296726 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:1357229 PMID:1579901 PMID:1598234 PMID:1615485 PMID:1615486 PMID:1631121 PMID:1631558 PMID:1680287 PMID:1733855 PMID:1864609 PMID:1873221 PMID:1897528 PMID:1902289 PMID:1958666 PMID:1968152 PMID:1969838 PMID:1972560 PMID:1986380 PMID:1998585 PMID:2004020 PMID:2066105 PMID:2087690 PMID:2093364 PMID:2111833 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:2752109 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:7482402 PMID:7677806 PMID:7734378 PMID:7873393 PMID:7937052 PMID:8055323 PMID:8091381 PMID:8178822 PMID:8199596 PMID:8217825 PMID:8251390 PMID:8257988 PMID:8304338 PMID:8314564 PMID:8318985 PMID:8320491 PMID:8352232 PMID:8365725 PMID:8392713 PMID:8412791 PMID:8434583 PMID:8470048 PMID:8478007 PMID:8499919 PMID:8499951 PMID:8594556 PMID:8680410 PMID:8772212 PMID:8825645 PMID:9222764 PMID:9450791 PMID:9525872 PMID:9590153 PMID:9600455 PMID:10094553 PMID:10595634 PMID:10698280 PMID:10739381 PMID:10874302 PMID:10942410 PMID:10980527 PMID:11013449 PMID:11122099 PMID:11328285 PMID:12588353 PMID:12780784 PMID:12997790 PMID:15086324 PMID:15569175 PMID:15921378 PMID:16270648 PMID:16643212 PMID:17397055 PMID:18479429 PMID:18624698 PMID:19286883 PMID:19522246 PMID:19686262 PMID:19699296 PMID:19815722 PMID:19846852 PMID:20301668 PMID:20695909 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
HRPT-related hyperuricemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh16a1 aldehyde dehydrogenase 16 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chr 1:101,138,237...101,151,320
Ensembl chr 1:101,138,248...101,151,320
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
ClinVar Annotator: match by term: HPRT-related hyperuricemia
ClinVar Annotator: match by term: KELLEY-SEEGMILLER SYNDROME
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300323
OMIM
ClinVar
CTD
PMID:1301916 PMID:1551676 PMID:1934271 PMID:1937471 PMID:2071157 PMID:2246854 PMID:2323782 PMID:2347587 PMID:2397545 PMID:2738157 PMID:2896620 PMID:2928313 PMID:3358423 PMID:3384338 PMID:6309910 PMID:6706936 PMID:9288634 PMID:9799086 PMID:10737990 PMID:11018746 PMID:11891689 PMID:15386453 PMID:15505382 PMID:15571220 PMID:16549399 PMID:17027311 PMID:17454734 PMID:19016344 PMID:20981450 PMID:22132984 PMID:22157001 PMID:22999896 PMID:23348497 PMID:23975452 PMID:25136576 PMID:25481104 PMID:25741868 PMID:28045594 PMID:28492532 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
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:11044805 PMID:11297579 PMID:12050219 PMID:12727945 PMID:15001591 PMID:15605412 PMID:16882753 PMID:17054399 PMID:21681106 PMID:21717404 PMID:22035731 PMID:23100014 PMID:23410897 PMID:23533228 PMID:23643382 PMID:23849776 PMID:25077900 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
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome ClinVar PMID:31790666 PMID:32497488 PMID:32902915 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
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 Dock8 dedicator of cytokinesis 8 ISO DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) RGD PMID:29058101 RGD:40886273 NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
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:25741868 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:25741868 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: 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:1434518 PMID:1618489 PMID:1639405 PMID:1840549 PMID:1934271 PMID:1937471 PMID:2071157 PMID:2323782 PMID:2347587 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:10767182 PMID:11668636 PMID:17027311 PMID:23975452 PMID:25481104 PMID:25741868 PMID:28492532 PMID:28708303, 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: X-linked hydrocephalus syndrome
ClinVar Annotator: match by term: L1 syndrome
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 1, X-LINKED
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:8826452 PMID:8929944 PMID:9300653 PMID:9610803 PMID:9643285 PMID:9744477 PMID:10469653 PMID:10767310 PMID:11772994 PMID:12725590 PMID:13889294 PMID:16650080 PMID:18136715 PMID:19846429 PMID:20447653 PMID:21271669 PMID:23820807 PMID:25644381 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30712878 PMID:31319225 PMID:31474318 PMID:31680349 PMID:32488064, 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:25741868 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: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 PMID:29656098 NCBI chr  X:31,786,823...31,799,751
Ensembl chr  X:31,786,194...31,799,560
JBrowse link
nephrogenic syndrome of inappropriate antidiuresis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis
ClinVar Annotator: match by OMIM:300539
OMIM
ClinVar
PMID:25741868 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
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 Annotator: match by term: Mental retardation, X-linked 105
ClinVar
OMIM
PMID:25644381 PMID:25741868 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 30, X-linked
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: X-Linked mental retardation 90
ClinVar Annotator: match by OMIM:300850
OMIM
ClinVar
PMID:15185169 PMID:23020937 PMID:24721225 PMID:25741868 PMID:28492532 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 term: Mental retardation, X-linked 96
ClinVar Annotator: match by OMIM:300802
OMIM
ClinVar
PMID:19377476 PMID:25741868 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 Ntf4 neurotrophin 4 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 99 ClinVar PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533 NCBI chr 1:101,405,314...101,408,145
Ensembl chr 1:101,405,314...101,408,145
JBrowse link
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:25741868 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: 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 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:23871722 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28794991 PMID:29353736 PMID:31288420 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: Cutis laxa, X-linked
ClinVar Annotator: match by term: Occipital horn syndrome
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:24033266 PMID:25741868 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:17142121 PMID:17162149 PMID:17384968 PMID:17765681 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: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 Annotator: match by term: Osteogenesis imperfecta, type 19
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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by OMIM:312080
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:8696336 PMID:8723686 PMID:8786077 PMID:9056547 PMID:9482656 PMID:9633722 PMID:9634530 PMID:11071483 PMID:12297985 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:26467025 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:8723686 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:26467025 PMID:26633545 PMID:27535533 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