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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:X-linked monogenic disease
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Accession:DOID:0050735 term browser browse the term
Definition:Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
Synonyms:exact_synonym: Genetic Diseases, X Chromosome Linked;   X-linked disease;   X-linked genetic disease;   X-linked inheritance
 primary_id: MESH:D040181
 alt_id: RDO:0000273
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
X-linked monogenic disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19703807 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
JBrowse link
G Msl3 MSL complex subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30224647 NCBI chr  X:27,015,826...27,033,562
Ensembl chr  X:27,015,884...27,033,555
JBrowse link
46,XX sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO ClinVar Annotator: match by term: 46,XX SEX REVERSAL, SRY-POSITIVE OMIM
ClinVar
PMID:25741868 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299
JBrowse link
46,XY sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by OMIM:300018 OMIM
ClinVar
PMID:9486644 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513
JBrowse link
Abruzzo-Erickson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by OMIM:302905 OMIM
ClinVar
PMID:839509 PMID:22784330 NCBI chr  X:78,731,738...78,782,542
Ensembl chr  X:78,769,419...78,782,542
JBrowse link
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 susceptibility ISO ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE
ClinVar Annotator: match by term: 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
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
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Alpha-thalassemia X-linked mental retardation syndrome
ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome
ClinVar Annotator: match by term: XLMR hypotonic face syndrome
ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
ClinVar Annotator: match by term: ATR-X syndrome
ClinVar Annotator: match by OMIM:301040
ClinVar Annotator: match by null
DNA:missense mutations:exons: c.6253C>T (p.R2085C), c.6254G>A (p.R2085H)(human)
DNA:missense mutations:exons: c.736C>T (p.R246C), c.736C>T (p.R246C)(human)
DNA:nonsense mutation:exon: c.109C>T (p.R37X)(human)
OMIM
ClinVar
PMID:3239563 PMID:3658675 PMID:6682021 PMID:7506096 PMID:7697714 PMID:7726225 PMID:8630485 PMID:8644709 PMID:8968741 PMID:9244431 PMID:9326931 PMID:9598720 PMID:10204841 PMID:10417298 PMID:10632111 PMID:10995512 PMID:12116232 PMID:12673795 PMID:15508018 PMID:15591283 PMID:16763962 PMID:16813605 PMID:16955409 PMID:17579672 PMID:18409179 PMID:18414213 PMID:20500465 PMID:21505078 PMID:22995991 PMID:23352163 PMID:23681356 PMID:24082139 PMID:24327140 PMID:24728327 PMID:24759409 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:28708303 PMID:29304373 PMID:29602769 PMID:29910053 PMID:31130284, PMID:24289169, PMID:24327140, PMID:24805811 RGD:9586030, RGD:9586029, RGD:9586027 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
alpha-thalassemia myelodysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Acquired hemoglobin H disease
ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome
ClinVar Annotator: match by OMIM:300448
OMIM
ClinVar
PMID:9326931 PMID:10995512 PMID:12858175 PMID:16955409 PMID:20500465 PMID:24327140 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31130284 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
amelogenesis imperfecta type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amelx amelogenin, X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1e, with snow-capped teeth
ClinVar Annotator: match by OMIM:301200
OMIM
ClinVar
PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 PMID:5225441 PMID:7599636 PMID:7782077 PMID:8406474 PMID:9188994 PMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:15111628 PMID:23251683 NCBI chr  X:26,439,197...26,450,495
Ensembl chr  X:26,439,197...26,450,495
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IE
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1e, with snow-capped teeth
ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 PMID:5225441 PMID:7599636 PMID:7782077 PMID:8406474 PMID:9188994 PMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:15111628 PMID:23251683 NCBI chr  X:26,314,561...26,845,242
Ensembl chr  X:26,315,878...26,376,467
JBrowse link
AMME complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a6 collagen type IV alpha 6 chain ISO OMIM NCBI chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
JBrowse link
androgen insensitivity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO
IEP
ClinVar Annotator: match by term: Androgen resistance syndrome
ClinVar Annotator: match by term: Partial androgen insensitivity syndrome
ClinVar Annotator: match by term: Reifenstein syndrome
DNA:missense mutation:exon:p.M749V (human)
DNA:missense mutations, repeats:exon:p.V866L, p.R607Y (human)
DNA:missense mutation:exon:p.R615S (human)
DNA:point mutation, repeats:exon
DNA:deletion
protein:altered localization:spinal cord, motor neuron, cytoplasm
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300068
ClinVar Annotator: match by OMIM:312300
OMIM
ClinVar
CTD
PMID:1158706 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1458719 PMID:1569163 PMID:1598912 PMID:1609793 PMID:1720929 PMID:2082179 PMID:2293020 PMID:2332504 PMID:2339702 PMID:2594783 PMID:3174628 PMID:3186717 PMID:3216866 PMID:4061484 PMID:7537149 PMID:7581399 PMID:7641413 PMID:7671849 PMID:7910529 PMID:7970939 PMID:7981687 PMID:7981689 PMID:8033918 PMID:8040309 PMID:8096390 PMID:8097257 PMID:8126121 PMID:8162033 PMID:8281139 PMID:8325932 PMID:8339746 PMID:8413310 PMID:8450040 PMID:8450042 PMID:8626869 PMID:8723113 PMID:8809734 PMID:8823308 PMID:8824883 PMID:8990010 PMID:9007482 PMID:9039340 PMID:9328206 PMID:9360511 PMID:9543136 PMID:9544375 PMID:9576916 PMID:9627582 PMID:9698822 PMID:9768671 PMID:9788719 PMID:9856504 PMID:10092153 PMID:10221770 PMID:10323251 PMID:10323385 PMID:10425033 PMID:10458483 PMID:10690872 PMID:10834333 PMID:10840043 PMID:11181525 PMID:11225909 PMID:11376111 PMID:11397856 PMID:11549642 PMID:11579211 PMID:11587068 PMID:11788616 PMID:11788673 PMID:11889162 PMID:12068007 PMID:12213902 PMID:12466388 PMID:12705360 PMID:12843171 PMID:14974091 PMID:15531547 PMID:15541764 PMID:15925895 PMID:16083860 PMID:16283146 PMID:16365032 PMID:16373394 PMID:16450583 PMID:17054461 PMID:17937062 PMID:19463997 PMID:20011049 PMID:20150575 PMID:20493947 PMID:20671138 PMID:21730179 PMID:21962961 PMID:22334387 PMID:22995991 PMID:24033266 PMID:24186138 PMID:24321103 PMID:24737579 PMID:24790346 PMID:25241384 PMID:25248670 PMID:25326637 PMID:25433660 PMID:25613104 PMID:25674389 PMID:25741868 PMID:26688387 PMID:26778393 PMID:26980296 PMID:27267075 PMID:27583472 PMID:27899157 PMID:28186600 PMID:28261839 PMID:28456808 PMID:28492532 PMID:28624954 PMID:28857053 PMID:29051026 PMID:29785970 PMID:30599484 PMID:31499074, PMID:1487249, PMID:8325950, PMID:1424203, PMID:20888558, PMID:7970939, PMID:3186717, PMID:7643075 RGD:11576240, RGD:11576235, RGD:11576233, RGD:11576232, RGD:11571628, RGD:11571627, RGD:11571622 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Fkbp4 FKBP prolyl isomerase 4 ISS OMIM:300068 MouseDO NCBI chr 4:161,748,993...161,757,447
Ensembl chr 4:161,748,993...161,757,447
JBrowse link
G Kat7 lysine acetyltransferase 7 ISO protein:decreased expression:testes (human) RGD PMID:23707616 RGD:9681005 NCBI chr10:83,095,067...83,128,342
Ensembl chr10:83,095,068...83,128,297
JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
Armfield syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Armfield X-linked mental retardation syndrome OMIM
ClinVar
PMID:10398235 PMID:25741868 PMID:32703943 NCBI chr  X:156,392,646...156,399,763
Ensembl chr  X:156,392,630...156,399,760
JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Arts syndrome
ClinVar Annotator: match by OMIM:301835
OMIM
ClinVar
PMID:8498830 PMID:17701896 PMID:22246954 PMID:24033266 PMID:24528855 PMID:25741868 PMID:28492532 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
JBrowse link
Atkin Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Mental retardation, X-linked, nonspecific
ClinVar Annotator: match by term: Mental retardation X-linked, Atkin type
ClinVar PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9628581 PMID:15197169 PMID:15669143 PMID:18414213 PMID:20473311 PMID:23020937 PMID:23674175 PMID:23934111 PMID:24306141 PMID:25741868 PMID:25914188 PMID:26467025 PMID:26539891 PMID:26544041 PMID:26733290 PMID:26793055 PMID:26795593 PMID:28220259 PMID:28295041 PMID:28492532 PMID:28815955 PMID:29302074 NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Mental retardation X-linked, Atkin type ClinVar PMID:20400964 PMID:21990120 PMID:22006311 PMID:22538716 PMID:24139550 PMID:24315737 PMID:24549055 PMID:24800917 PMID:25452441 PMID:25741868 PMID:26261251 PMID:26681312 PMID:28123851 PMID:28152038 PMID:28492532 PMID:28905878 PMID:29053726 PMID:29255180 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
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
autosomal recessive congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:25741868 PMID:27476656 NCBI chr  X:36,930,186...37,054,968
Ensembl chr  X:36,930,186...37,003,642
JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar
OMIM
PMID:1283148 PMID:1283149 PMID:1284534 PMID:1284538 PMID:1284540 PMID:1370365 PMID:1370875 PMID:1376016 PMID:1377276 PMID:1379210 PMID:1379413 PMID:1380673 PMID:1381146 PMID:1381723 PMID:1382316 PMID:1384321 PMID:1536179 PMID:1545465 PMID:1673094 PMID:1678049 PMID:1695717 PMID:1709778 PMID:1710599 PMID:1710600 PMID:1712898 PMID:1721624 PMID:1756602 PMID:1757966 PMID:1903761 PMID:1937486 PMID:1997384 PMID:1999830 PMID:2135388 PMID:2210767 PMID:2210768 PMID:2210769 PMID:2220803 PMID:2233932 PMID:2236053 PMID:2267887 PMID:2300168 PMID:2344617 PMID:2349952 PMID:2378364 PMID:2397487 PMID:2475911 PMID:2565038 PMID:2570460 PMID:5371902 PMID:7475569 PMID:7493947 PMID:7504969 PMID:7506096 PMID:7508414 PMID:7512860 PMID:7513889 PMID:7515303 PMID:7520798 PMID:7522211 PMID:7522329 PMID:7522901 PMID:7529319 PMID:7529962 PMID:7532150 PMID:7534040 PMID:7536669 PMID:7537147 PMID:7537148 PMID:7539080 PMID:7539342 PMID:7542778 PMID:7543317 PMID:7544319 PMID:7544320 PMID:7544788 PMID:7545869 PMID:7550243 PMID:7551394 PMID:7573058 PMID:7599637 PMID:7680378 PMID:7680769 PMID:7683628 PMID:7684641 PMID:7684646 PMID:7689009 PMID:7691344 PMID:7691345 PMID:7691356 PMID:7691813 PMID:7692051 PMID:7739684 PMID:8343799 PMID:8421472 PMID:8528204 PMID:8530001 PMID:8556303 PMID:8605891 PMID:8662892 PMID:8698344 PMID:8702904 PMID:8707306 PMID:8825494 PMID:8825927 PMID:8829643 PMID:8834261 PMID:8863168 PMID:8910333 PMID:8947061 PMID:9003498 PMID:9003508 PMID:9043501 PMID:9056552 PMID:9099843 PMID:9135274 PMID:9150159 PMID:9164051 PMID:9239681 PMID:9254864 PMID:9259194 PMID:9259197 PMID:9272157 PMID:9272738 PMID:9305991 PMID:9435322 PMID:9439669 PMID:9507391 PMID:9521595 PMID:9550361 PMID:9550362 PMID:9557894 PMID:9620832 PMID:9683582 PMID:9725922 PMID:9736778 PMID:9804160 PMID:9921909 PMID:9950364 PMID:9950763 PMID:10103316 PMID:10200050 PMID:10204861 PMID:10206682 PMID:10341008 PMID:10376575 PMID:10386624 PMID:10388469 PMID:10401194 PMID:10445602 PMID:10480369 PMID:10556281 PMID:10571955 PMID:10601093 PMID:10652351 PMID:10653141 PMID:10653145 PMID:10668931 PMID:10719683 PMID:10755189 PMID:10762539 PMID:10782933 PMID:10798368 PMID:10801389 PMID:10834512 PMID:10875853 PMID:10875876 PMID:10909845 PMID:10922395 PMID:10923036 PMID:10950058 PMID:10970190 PMID:10980579 PMID:11005149 PMID:11069835 PMID:11101688 PMID:11118444 PMID:11168024 PMID:11180668 PMID:11242048 PMID:11278813 PMID:11280952 PMID:11354633 PMID:11379874 PMID:11388756 PMID:11430710 PMID:11446424 PMID:11448786 PMID:11466205 PMID:11491164 PMID:11504857 PMID:11523757 PMID:11547256 PMID:11597353 PMID:11729110 PMID:11733566 PMID:11737931 PMID:11746017 PMID:11810271 PMID:11883825 PMID:11938439 PMID:12007216 PMID:12070257 PMID:12120234 PMID:12127423 PMID:12133923 PMID:12172395 PMID:12200467 PMID:12437773 PMID:12439892 PMID:12452372 PMID:12503104 PMID:12578973 PMID:12658038 PMID:12719375 PMID:12732620 PMID:12752573 PMID:12767731 PMID:12815607 PMID:12843327 PMID:12865275 PMID:12919146 PMID:12940920 PMID:12955726 PMID:14526128 PMID:14685937 PMID:14963811 PMID:14993601 PMID:14998948 PMID:15024729 PMID:15070876 PMID:15084222 PMID:15084988 PMID:15097853 PMID:15121783 PMID:15126740 PMID:15141088 PMID:15151509 PMID:15176679 PMID:15246977 PMID:15287992 PMID:15354332 PMID:15367919 PMID:15371902 PMID:15371903 PMID:15371907 PMID:15463907 PMID:15480987 PMID:15520400 PMID:15536480 PMID:15537723 PMID:15638824 PMID:15698946 PMID:15705292 PMID:15744523 PMID:15758663 PMID:15772171 PMID:15776432 PMID:15784035 PMID:15858154 PMID:15880796 PMID:15905293 PMID:15948195 PMID:15952991 PMID:15987793 PMID:15994263 PMID:16020494 PMID:16049310 PMID:16126774 PMID:16128988 PMID:16189704 PMID:16196493 PMID:16263954 PMID:16272798 PMID:16339147 PMID:16429425 PMID:16436643 PMID:16617247 PMID:16778595 PMID:16784904 PMID:16801189 PMID:16840743 PMID:16931591 PMID:16963320 PMID:16980811 PMID:17003641 PMID:17015492 PMID:17035430 PMID:17098482 PMID:17137500 PMID:17175965 PMID:17206681 PMID:17234733 PMID:17235394 PMID:17272608 PMID:17314234 PMID:17329263 PMID:17331079 PMID:17353351 PMID:17380060 PMID:17407489 PMID:17413420 PMID:17449517 PMID:17481968 PMID:17489851 PMID:17495464 PMID:17507277 PMID:17539902 PMID:17572159 PMID:17594397 PMID:17594398 PMID:17662673 PMID:17692578 PMID:17718859 PMID:17850636 PMID:17975025 PMID:18234567 PMID:18301294 PMID:18305154 PMID:18306312 PMID:18373402 PMID:18421494 PMID:18456578 PMID:18507830 PMID:18567645 PMID:18685558 PMID:18687795 PMID:18703181 PMID:18716917 PMID:18722008 PMID:18796364 PMID:18951463 PMID:19014821 PMID:19092437 PMID:19166122 PMID:19202204 PMID:19227414 PMID:19318035 PMID:19318346 PMID:19406970 PMID:19707853 PMID:19710401 PMID:19724303 PMID:19734299 PMID:19810821 PMID:19812525 PMID:19837664 PMID:19843100 PMID:19846789 PMID:19878303 PMID:19880712 PMID:19885835 PMID:19893581 PMID:19897426 PMID:19910374 PMID:19914443 PMID:19925455 PMID:20021716 PMID:20059485 PMID:20100616 PMID:20167849 PMID:20301428 PMID:20351098 PMID:20351101 PMID:20381036 PMID:20416310 PMID:20460946 PMID:20522854 PMID:20538955 PMID:20580320 PMID:20595578 PMID:20622033 PMID:20628052 PMID:20657600 PMID:20659818 PMID:20667826 PMID:20687163 PMID:20691141 PMID:20696241 PMID:20705837 PMID:20706124 PMID:20722470 PMID:20797923 PMID:20837875 PMID:20846557 PMID:20880762 PMID:20932301 PMID:20976528 PMID:20977904 PMID:21083385 PMID:21097845 PMID:21111762 PMID:21131649 PMID:21152102 PMID:21184098 PMID:21228398 PMID:21233271 PMID:21411740 PMID:21416780 PMID:21483833 PMID:21486785 PMID:21507732 PMID:21520337 PMID:21538969 PMID:21594800 PMID:21602569 PMID:21658649 PMID:21679131 PMID:21825083 PMID:21907281 PMID:21965669 PMID:21976485 PMID:21983161 PMID:21983488 PMID:22020151 PMID:22043142 PMID:22047557 PMID:22148899 PMID:22156145 PMID:22210114 PMID:22293084 PMID:22318583 PMID:22332135 PMID:22369017 PMID:22383668 PMID:22427236 PMID:22439019 PMID:22449949 PMID:22468138 PMID:22483971 PMID:22504961 PMID:22569626 PMID:22572128 PMID:22658665 PMID:22664493 PMID:22678879 PMID:22680785 PMID:22724884 PMID:22768251 PMID:22842702 PMID:22892530 PMID:22942289 PMID:22975760 PMID:22981120 PMID:22992668 PMID:22995991 PMID:22999299 PMID:23017188 PMID:23027855 PMID:23055971 PMID:23067305 PMID:23076339 PMID:23082198 PMID:23104983 PMID:23206872 PMID:23276700 PMID:23313410 PMID:23361109 PMID:23378603 PMID:23381846 PMID:23420618 PMID:23430892 PMID:23466340 PMID:23514810 PMID:23523379 PMID:23590265 PMID:23687349 PMID:23751316 PMID:23757359 PMID:23757361 PMID:23810505 PMID:23857699 PMID:23883480 PMID:23891399 PMID:23924900 PMID:23951356 PMID:23974870 PMID:24033266 PMID:24058550 PMID:24066763 PMID:24081349 PMID:24204751 PMID:24375076 PMID:24418186 PMID:24440181 PMID:24440239 PMID:24461666 PMID:24559724 PMID:24586523 PMID:24631642 PMID:24697796 PMID:24813944 PMID:24816901 PMID:24836205 PMID:24958810 PMID:24973281 PMID:25024266 PMID:25033378 PMID:25042876 PMID:25049054 PMID:25060775 PMID:25066652 PMID:25087612 PMID:25122143 PMID:25145599 PMID:25148434 PMID:25171465 PMID:25251442 PMID:25266159 PMID:25287046 PMID:25304080 PMID:25308578 PMID:25311995 PMID:25383785 PMID:25473543 PMID:25489051 PMID:25492507 PMID:25583415 PMID:25651269 PMID:25658530 PMID:25682022 PMID:25698453 PMID:25704068 PMID:25735457 PMID:25741868 PMID:25741869 PMID:25754095 PMID:25755212 PMID:25781545 PMID:25797027 PMID:25824995 PMID:25826586 PMID:25867140 PMID:25869325 PMID:25880441 PMID:25905921 PMID:25910067 PMID:25981758 PMID:26003066 PMID:26014425 PMID:26070913 PMID:26087176 PMID:26095523 PMID:26135562 PMID:26199320 PMID:26208274 PMID:26277102 PMID:26324139 PMID:26436105 PMID:26437683 PMID:26467025 PMID:26474553 PMID:26500004 PMID:26526220 PMID:26568242 PMID:26574590 PMID:26581802 PMID:26618866 PMID:26627831 PMID:26648081 PMID:26651825 PMID:26708955 PMID:26755536 PMID:26823392 PMID:26846474 PMID:26847993 PMID:26946416 PMID:26968770 PMID:26976279 PMID:26990548 PMID:27086061 PMID:27158673 PMID:27171515 PMID:27209008 PMID:27214033 PMID:27214204 PMID:27222777 PMID:27264265 PMID:27298017 PMID:27334259 PMID:27364092 PMID:27469177 PMID:27659740 PMID:27707539 PMID:27728908 PMID:27738188 PMID:27745802 PMID:27773592 PMID:27805836 PMID:27812499 PMID:27898234 PMID:28129809 PMID:28194692 PMID:28196530 PMID:28325531 PMID:28371569 PMID:28408918 PMID:28419121 PMID:28492532 PMID:28502372 PMID:28544683 PMID:28546993 PMID:28603918 PMID:28606620 PMID:28611235 PMID:28651844 PMID:28711222 PMID:28736296 PMID:28771972 PMID:28785019 PMID:28800122 PMID:28801929 PMID:28830496 PMID:28947035 PMID:29099333 PMID:29126871 PMID:29168366 PMID:29261177 PMID:29279204 PMID:29327948 PMID:29451946 PMID:29497617 PMID:29504914 PMID:29520692 PMID:29589582 PMID:29590070 PMID:29805046 PMID:29807875 PMID:29997923 PMID:30046002 PMID:30134826 PMID:30548586 PMID:30561903 PMID:30698611 PMID:30845638 PMID:30873022 PMID:30888834 PMID:30930780 PMID:31005549 PMID:31213628 PMID:31328366 PMID:31331863 PMID:31759907 PMID:31776420 PMID:31788424 PMID:31808782 PMID:31883651 PMID:31978131 PMID:32172930 PMID:32357917 PMID:32512765 PMID:32934006 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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
Basilicata-Akhtar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msl3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: BASILICATA-AKHTAR SYNDROME
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 36
OMIM
ClinVar
PMID:25741868 PMID:30224647 NCBI chr  X:27,015,826...27,033,562
Ensembl chr  X:27,015,884...27,033,555
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
cataract 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: CATARACT 40 WITH OR WITHOUT MICROCORNEA
ClinVar Annotator: match by OMIM:302200
OMIM
ClinVar
PMID:19414485 PMID:25741868 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
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
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked ClinVar PMID:23176820 PMID:25326635 PMID:25741868 PMID:25744623 PMID:26609730 PMID:27030146 PMID:28492532 PMID:29389947 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
Charcot-Marie-Tooth disease X-linked dominant 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth peroneal muscular atrophy, X-linked
ClinVar Annotator: match by term: X-linked hereditary motor and sensory neuropathy
ClinVar Annotator: match by OMIM:302800
OMIM
ClinVar
PMID:427531 PMID:1211842 PMID:7477983 PMID:7580242 PMID:7946361 PMID:8004109 PMID:8162049 PMID:8266101 PMID:8698335 PMID:8733054 PMID:8737658 PMID:8757034 PMID:8800924 PMID:8816997 PMID:8829637 PMID:8889588 PMID:8990008 PMID:9018031 PMID:9099841 PMID:9187667 PMID:9272161 PMID:9328258 PMID:9354338 PMID:9361298 PMID:9364054 PMID:9401007 PMID:9452099 PMID:9592087 PMID:9600589 PMID:9633821 PMID:9854984 PMID:9856562 PMID:10071100 PMID:10093067 PMID:10102421 PMID:10207904 PMID:10220155 PMID:10487913 PMID:10521546 PMID:10586227 PMID:10586261 PMID:10586279 PMID:10639608 PMID:10732813 PMID:10737979 PMID:10848620 PMID:10873293 PMID:10931843 PMID:11140841 PMID:11271367 PMID:11325342 PMID:11393532 PMID:11404117 PMID:11437164 PMID:11438991 PMID:11562788 PMID:11571214 PMID:11718056 PMID:11723288 PMID:11734543 PMID:11835375 PMID:11891346 PMID:12111842 PMID:12207932 PMID:12297581 PMID:12402337 PMID:12460545 PMID:12477701 PMID:12497641 PMID:12499506 PMID:12542510 PMID:12707076 PMID:14663027 PMID:14706470 PMID:15006706 PMID:15241803 PMID:15470753 PMID:15719046 PMID:15852376 PMID:15947997 PMID:16079393 PMID:16301507 PMID:16442804 PMID:16476939 PMID:16688595 PMID:16922730 PMID:17100997 PMID:17353473 PMID:17620124 PMID:18254389 PMID:18379723 PMID:19062535 PMID:19259128 PMID:19335535 PMID:19369543 PMID:19448103 PMID:20128140 PMID:20435583 PMID:21149811 PMID:21254193 PMID:21291455 PMID:21504505 PMID:21692908 PMID:22159091 PMID:22243284 PMID:22464564 PMID:22771394 PMID:22820753 PMID:23209285 PMID:23773993 PMID:23806086 PMID:23827825 PMID:23871722 PMID:24078732 PMID:24088041 PMID:24327141 PMID:24444136 PMID:25025039 PMID:25429913 PMID:25741868 PMID:25802885 PMID:25947624 PMID:26257172 PMID:26392352 PMID:26454100 PMID:26467025 PMID:26955336 PMID:27025386 PMID:27027447 PMID:27098783 PMID:27234031 PMID:27544631 PMID:27804109 PMID:27844031 PMID:27862672 PMID:28071741 PMID:28097225 PMID:28283593 PMID:28448691 PMID:28469099 PMID:28492532 PMID:28768847 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
Charcot-Marie-Tooth disease X-linked dominant 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, X-linked dominant, 6 OMIM
ClinVar
PMID:23297365 PMID:25741868 PMID:26801680 PMID:28492532 NCBI chr  X:62,836,131...62,904,114
Ensembl chr  X:62,836,131...62,903,554
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
CHILD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Child syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:308050
OMIM
ClinVar
CTD
PMID:10710235 PMID:11907515 PMID:12966526 PMID:18414213 PMID:25526675 PMID:28492532 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
ClinVar Annotator: match by OMIM:300863
OMIM
ClinVar
PMID:16001442 PMID:20181727 PMID:25741868 NCBI chr  X:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671
JBrowse link
Choroideremia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Choroideremia
ClinVar Annotator: match by OMIM:303100
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Choroideremia, salla type
OMIM
ClinVar
PMID:1044764 PMID:1302003 PMID:1598901 PMID:7981670 PMID:8477262 PMID:9067750 PMID:9175730 PMID:10447648 PMID:11139690 PMID:12203991 PMID:12827496 PMID:16087855 PMID:16936131 PMID:21905166 PMID:22957832 PMID:25741868 PMID:25912515 PMID:26133251 PMID:27247961 PMID:28098911 PMID:28492532 PMID:28559085 NCBI chr  X:84,666,900...84,821,775
Ensembl chr  X:84,666,900...84,821,775
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy ClinVar PMID:11139241 PMID:25675413 PMID:25741868 PMID:26842753 PMID:28492532 NCBI chr 9:16,085,933...16,386,176 JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 PMID:19564592 PMID:20397747 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:23064044 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 1:8,129,354...8,333,890
Ensembl chr 1:8,310,577...8,333,885
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Christianson syndrome
ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
ClinVar Annotator: match by OMIM:300243
OMIM
ClinVar
PMID:10528855 PMID:18342287 PMID:18414213 PMID:19471312 PMID:19619532 PMID:20395263 PMID:25044251 PMID:25167861 PMID:25741868 PMID:26467025 PMID:27256868 PMID:28492532 PMID:32581362 PMID:32860008 NCBI chr  X:158,979,081...159,045,019
Ensembl chr  X:158,978,755...159,045,044
JBrowse link
chromosome Xp11.22 duplication syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO OMIM NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
Chromosome Xp11.3 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp2 RP2 activator of ARL3 GTPase ISO OMIM NCBI chr  X:2,066,298...2,116,661
Ensembl chr  X:2,064,486...2,116,656
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
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly, X-linked
DNA:missense mutation:exon:p.A71S (211G>T) (human)
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.D262G (c.785A>G) (human)
ClinVar Annotator: match by OMIM:300067
OMIM
ClinVar
PMID:9489699 PMID:9489700 PMID:11468322 PMID:12552055 PMID:17111359 PMID:18414213 PMID:25326635 PMID:25741868 PMID:29706646 PMID:32238909, PMID:11071144, PMID:12838518, PMID:27292316 RGD:12904735, RGD:12904728, RGD:11568595 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:61,683,776...61,700,504
Ensembl chr10:61,685,241...61,700,491
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia
ClinVar Annotator: match by term: Type 1 lissencephaly
ClinVar Annotator: match by term: Lissencephaly classic
ClinVar PMID:9063735 PMID:9147889 PMID:10441340 PMID:10583396 PMID:11115846 PMID:11502906 PMID:12885786 PMID:14581661 PMID:15007136 PMID:17664403 PMID:18414213 PMID:19667223 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26633545 PMID:27891766 PMID:32238909 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412
JBrowse link
Cleft Palate with Ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by null ClinVar PMID:2563678 PMID:11559848 PMID:12374769 PMID:14729838 PMID:22784330 NCBI chr  X:78,731,738...78,782,542
Ensembl chr  X:78,769,419...78,782,542
JBrowse link
Coffin-Lowry syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:303600
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:5581017 PMID:8955270 PMID:9837815 PMID:9887375 PMID:10094187 PMID:10528858 PMID:11180593 PMID:11992250 PMID:12439904 PMID:12558110 PMID:14986828 PMID:15214012 PMID:16306095 PMID:16879200 PMID:17717706 PMID:19377476 PMID:19888300 PMID:21488662 PMID:25044551 PMID:25741868 PMID:28492532 PMID:31319225 NCBI chr  X:37,469,736...37,576,055
Ensembl chr  X:37,469,937...37,575,624
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
combined T cell and B cell immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar Annotator: match by term: Congenital combined immunodeficiency
ClinVar PMID:25741868 PMID:32499645 NCBI chr12:11,252,300...11,265,849
Ensembl chr12:11,252,296...11,265,865
JBrowse link
G Bcl11b BAF chromatin remodeling complex subunit BCL11B ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25627829 PMID:27959755 NCBI chr 6:131,834,097...131,927,251
Ensembl chr 6:131,834,097...131,926,272
JBrowse link
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency
ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar PMID:25741868 PMID:28112205 NCBI chr19:37,652,383...37,665,333
Ensembl chr19:37,652,969...37,668,019
JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar Annotator: match by term: Congenital combined immunodeficiency
ClinVar PMID:25741868 PMID:25843314 PMID:28492532 NCBI chr 4:157,744,881...157,751,609
Ensembl chr 4:157,744,882...157,750,088
JBrowse link
G Cd40lg CD40 ligand ISO DNA:polymorphism: :p.G219R (human) RGD PMID:21543760 RGD:5490593 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO
IMP
ClinVar Annotator: match by term: Combined immunodeficiency, X-linked OMIM
ClinVar
PMID:2169613 PMID:7557965 PMID:7632950 PMID:7668284 PMID:7883965 PMID:7973658 PMID:8088810 PMID:8961626 PMID:9049783 PMID:9058718 PMID:9399950 PMID:9633906 PMID:10792291 PMID:11129345 PMID:12126929 PMID:14966353 PMID:18641513 PMID:21184155 PMID:22039266 PMID:23683512 PMID:24534054 PMID:25042067 PMID:25741868 PMID:25869287 PMID:28492532 PMID:28747913, PMID:20111598 RGD:2316325 NCBI chr  X:71,165,378...71,169,078
Ensembl chr  X:71,162,585...71,169,865
JBrowse link
G Il2rgem1Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo IMP RGD PMID:20111598 RGD:2316325
G Il2rgem2Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo IMP RGD PMID:20111598 RGD:2316325
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Congenital combined immunodeficiency ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:22857948 PMID:23233322 PMID:23283745 PMID:24033266 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28615295 PMID:28790153 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Tfrc transferrin receptor ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:26642240 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25627829 PMID:25741868 PMID:26783323 NCBI chr 9:43,331,149...43,353,097
Ensembl chr 9:43,331,155...43,353,113
JBrowse link
congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:36,930,186...37,054,968
Ensembl chr  X:36,930,186...37,003,642
JBrowse link
G Cftr CF transmembrane conductance regulator ISO
IMP
CTD Direct Evidence: marker/mechanism
associated with Cystic Fibrosis
DNA:deletion, missense mutations: :multiple
DNA:deletion, nonsense mutations, missense mutations: :multiple
CTD PMID:10875853 PMID:11119745, PMID:24608905, PMID:10653141, PMID:11119745 RGD:11566051, RGD:11566040, RGD:11566027 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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 disorder of glycosylation type IIm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,610,230...15,616,727
Ensembl chr  X:15,598,652...15,617,665
JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,318,215...15,322,601
Ensembl chr  X:15,419,028...15,423,414
Ensembl chr  X:15,419,028...15,423,414
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,225,645...15,240,458
Ensembl chr  X:15,225,645...15,240,329
JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,523,929...15,553,702
Ensembl chr  X:15,523,929...15,553,720
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671
JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,506,724...15,520,712
Ensembl chr  X:15,506,724...15,520,712
JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,471,212...15,504,372
Ensembl chr  X:15,471,211...15,504,165
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,324,263...15,327,705 JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,462,621...15,467,890
Ensembl chr  X:15,462,016...15,467,875
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,618,324...15,620,992
Ensembl chr  X:15,618,991...15,620,841
JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar Annotator: match by OMIM:300896
OMIM
ClinVar
PMID:23561849 PMID:24115232 PMID:25741868 PMID:26350515 PMID:26467025 PMID:28492532 PMID:28771251 PMID:29907092 PMID:30817854 NCBI chr  X:15,453,184...15,461,990
Ensembl chr  X:15,453,186...15,461,713
JBrowse link
G Suv39h1 suppressor of variegation 3-9 homolog 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:146,532,002...146,533,538 JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,574,579...15,587,826
Ensembl chr  X:15,575,934...15,587,419
JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,441,369...15,448,452
Ensembl chr  X:15,441,651...15,448,403
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm ClinVar PMID:28492532 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by OMIM:306955
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar Annotator: match by term: Heterotaxy, visceral, X-linked
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked
ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
ClinVar
OMIM
PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 PMID:17295247 PMID:17764085 PMID:18716025 PMID:23427188 PMID:23872418 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
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 nystagmus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Infantile nystagmus, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:310700
OMIM
ClinVar
CTD
PMID:16020310 PMID:17013395 PMID:17962394 PMID:18087240 PMID:19072571 PMID:19892780 PMID:21303855 PMID:21746984 PMID:23020937 PMID:24513357 PMID:25741868 PMID:25916882 PMID:28492532 NCBI chr  X:138,095,707...138,149,702
Ensembl chr  X:138,098,185...138,148,967
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
Cornelia de Lange syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome ClinVar PMID:19052029 PMID:23683030 PMID:28492532 NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome
ClinVar Annotator: match by term: Cornelia de Lange syndrome 2
ClinVar
OMIM
PMID:16604071 PMID:17221863 PMID:17273969 PMID:18414213 PMID:18996922 PMID:19052029 PMID:19701948 PMID:19842212 PMID:20358602 PMID:20635401 PMID:22106055 PMID:22140011 PMID:23551878 PMID:23683030 PMID:24088041 PMID:24124034 PMID:24461912 PMID:25125236 PMID:25326635 PMID:25356970 PMID:25574841 PMID:25741868 PMID:26354354 PMID:26358754 PMID:26386245 PMID:26467025 PMID:26633545 PMID:27159028 PMID:27171548 PMID:27334371 PMID:28425213 PMID:28492532 PMID:28548707 PMID:30158690 PMID:32238909 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
JBrowse link
Cornelia de Lange syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048 NCBI chr  X:72,624,660...72,654,258 JBrowse link
G Dmrtc1c1 DMRT-like family C1c1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048 NCBI chr  X:72,684,315...72,691,535
Ensembl chr  X:72,684,329...72,691,535
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5
DNA:snp:intron:c.164+5G>A (human)
DNA:missense mutations, deletions, duplication:multiple (human)
ClinVar
OMIM
PMID:18414213 PMID:19605684 PMID:21320778 PMID:22885700 PMID:22889856 PMID:24088041 PMID:24375697 PMID:24403048 PMID:25075551 PMID:25326635 PMID:25326637 PMID:25533962 PMID:25574841 PMID:25741868 PMID:26463496 PMID:26633545 PMID:26671848 PMID:26725122 PMID:27159028 PMID:28492532 PMID:30158690, PMID:22889856, PMID:24403048 RGD:13208817, RGD:11068490 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Nap1l2 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048 NCBI chr  X:73,997,274...73,999,677 JBrowse link
G Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048 NCBI chr  X:73,894,603...73,895,742 JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 ClinVar PMID:24403048 PMID:25741868 NCBI chr  X:72,377,020...72,515,385
Ensembl chr  X:72,377,021...72,515,366
JBrowse link
corpus callosum agenesis-abnormal genitalia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Proud Levine Carpenter syndrome OMIM
ClinVar
PMID:1605226 PMID:14722918 PMID:18414213 PMID:22252899 PMID:25741868 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by OMIM:300472 OMIM
ClinVar
PMID:14556245 NCBI chr  X:70,322,764...70,345,005
Ensembl chr  X:70,322,755...70,345,005
JBrowse link
craniofrontonasal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:69,730,123...70,222,693
Ensembl chr  X:69,730,242...70,220,329
JBrowse link
G Efnb1 ephrin B1 ISO ClinVar Annotator: match by term: Craniofrontonasal syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniofrontonasal dysplasia
ClinVar Annotator: match by OMIM:304110
OMIM
ClinVar
CTD
PMID:1468459 PMID:6627724 PMID:15124102 PMID:15166289 PMID:16639408 PMID:16685650 PMID:17941886 PMID:18043713 PMID:23335590 PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr  X:68,891,227...68,904,034
Ensembl chr  X:68,891,227...68,904,038
JBrowse link
G Ophn1 oligophrenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:68,185,865...68,579,518
Ensembl chr  X:68,189,161...68,563,137
JBrowse link
G Pja1 praja ring finger ubiquitin ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:69,213,645...69,218,601
Ensembl chr  X:69,213,645...69,218,556
JBrowse link
creatine transporter deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:156,963,343...156,993,591
Ensembl chr  X:156,963,870...156,993,591
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Creatine transporter deficiency
ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency
ClinVar Annotator: match by term: Creatine deficiency, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:300352
OMIM
ClinVar
CTD
PMID:11326334 PMID:11898126 PMID:12210795 PMID:12536364 PMID:12544242 PMID:15154114 PMID:16086185 PMID:16738945 PMID:17101918 PMID:17465020 PMID:18047645 PMID:18414213 PMID:19188083 PMID:20717164 PMID:21836662 PMID:21910234 PMID:22281021 PMID:22659343 PMID:23408511 PMID:23660394 PMID:25326635 PMID:25741868 PMID:25803912 PMID:26467025 PMID:28492532 PMID:29429461 PMID:32860008 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 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: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650
JBrowse link
Danon disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,773,430...123,788,898
Ensembl chr  X:123,773,430...123,788,898
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:124,631,544...124,652,520
Ensembl chr  X:124,631,881...124,652,975
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO
IMP
ClinVar Annotator: match by term: Danon disease
ClinVar Annotator: match by term: Glycogen storage cardiomyopathy
ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb
in hemizygote mutant male (LAMP2y/-)
ClinVar Annotator: match by OMIM:300257
OMIM
ClinVar
PMID:3087571 PMID:6408499 PMID:6450334 PMID:7919972 PMID:8504498 PMID:10972294 PMID:12112061 PMID:14598234 PMID:15253947 PMID:15673802 PMID:15792868 PMID:15889279 PMID:15907287 PMID:16190986 PMID:16217705 PMID:16565504 PMID:17899313 PMID:18061453 PMID:18282207 PMID:18312451 PMID:18555174 PMID:18990578 PMID:19318653 PMID:19373884 PMID:19533775 PMID:20173215 PMID:20445193 PMID:20960602 PMID:21070164 PMID:21415759 PMID:21520333 PMID:21896538 PMID:22074992 PMID:22695892 PMID:23168931 PMID:23785128 PMID:24033266 PMID:24503780 PMID:25091525 PMID:25326635 PMID:25458169 PMID:25741868 PMID:25826782 PMID:26748608 PMID:27066507 PMID:27179547 PMID:27532257 PMID:27600940 PMID:27678261 PMID:28492532 PMID:28771489 PMID:29753918 PMID:29915097, PMID:29720683 RGD:13703117 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117
G LOC100364002 reproductive homeobox 9-like ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,999,683...124,002,081
Ensembl chr  X:123,999,683...124,002,073
JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,803,109...123,806,760
Ensembl chr  X:124,513,269...124,516,705
Ensembl chr  X:124,513,269...124,516,705
JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,751,196...123,770,595
Ensembl chr  X:123,751,089...123,770,595
JBrowse link
G Rhox10 reproductive homeobox 10 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:124,207,017...124,211,455
Ensembl chr  X:124,207,017...124,211,455
JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,806,922...123,808,049
Ensembl chr  X:124,516,949...124,518,077
JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:124,400,686...124,465,156
Ensembl chr  X:124,328,735...124,465,110
JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,713,327...123,731,431
Ensembl chr  X:123,713,339...123,731,385
JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:124,319,299...124,326,506
Ensembl chr  X:124,321,551...124,323,960
JBrowse link
deafness, dystonia, and cerebral hypomyelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcap31 B-cell receptor-associated protein 31 ISO OMIM NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
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: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 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:35,151,376...35,200,501 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 severity ISO ClinVar Annotator: match by OMIM:300672
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
DNA:mutations:cds:
ClinVar
OMIM
PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16326141 PMID:16330482 PMID:16611748 PMID:16813600 PMID:17256798 PMID:17993579 PMID:18063413 PMID:18076117 PMID:18414213 PMID:18564362 PMID:18790821 PMID:18809835 PMID:19161156 PMID:19241098 PMID:19253388 PMID:19362436 PMID:19396824 PMID:19428276 PMID:19471977 PMID:19564592 PMID:19740913 PMID:19780792 PMID:19793311 PMID:19807736 PMID:20397747 PMID:20479760 PMID:20493745 PMID:20602487 PMID:20848651 PMID:21160487 PMID:21293276 PMID:21309761 PMID:21318334 PMID:21482751 PMID:21765152 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22264704 PMID:22430159 PMID:22670135 PMID:22678952 PMID:22779007 PMID:22812903 PMID:22832775 PMID:22867051 PMID:22872100 PMID:22922712 PMID:22982301 PMID:23064044 PMID:23151060 PMID:23184456 PMID:23236174 PMID:23238081 PMID:23242510 PMID:23262346 PMID:23583054 PMID:23647072 PMID:23828526 PMID:23934111 PMID:24500651 PMID:24564546 PMID:24715584 PMID:25266480 PMID:25315662 PMID:25326635 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26467025 PMID:26482601 PMID:27081548 PMID:27187038 PMID:27848944 PMID:28492532 PMID:28837158 PMID:29190809 PMID:29264392 PMID:29390993 PMID:29420175 PMID:29444904 PMID:29655203 PMID:30776697 PMID:31492455 PMID:31780880 PMID:31791873, PMID:22678952 RGD:12791015 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,731,891...34,794,589
Ensembl chr  X:34,731,891...34,794,589
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
ClinVar PMID:15499549 PMID:16813600 PMID:18076117 PMID:18414213 PMID:18564362 PMID:19241098 PMID:19428276 PMID:19780792 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22867051 PMID:23184456 PMID:23242510 PMID:23828526 PMID:25315662 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29655203 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,676,728...34,694,251 JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:35,305,235...35,431,271
Ensembl chr  X:35,305,236...35,431,164
JBrowse link
developmental and epileptic encephalopathy 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: CDG Is
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is
ClinVar Annotator: match by OMIM:300884
OMIM
ClinVar
PMID:22492991 PMID:23033978 PMID:23934111 PMID:24476948 PMID:24781210 PMID:24896178 PMID:25732998 PMID:25741868 PMID:26138355 PMID:26467025 PMID:26482601 PMID:28492532 PMID:28940310 PMID:32238909 PMID:32681751 NCBI chr  X:115,561,329...115,589,792
Ensembl chr  X:115,561,332...115,619,505
JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 ClinVar PMID:28492532 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
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
developmental and epileptic encephalopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9
ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME
ClinVar Annotator: match by OMIM:300088
OMIM
ClinVar
PMID:2267240 PMID:5116697 PMID:16199547 PMID:18234694 PMID:18414213 PMID:18469813 PMID:19214208 PMID:19377476 PMID:19752159 PMID:20713952 PMID:21053371 PMID:21480887 PMID:21519002 PMID:21777234 PMID:22050978 PMID:22267240 PMID:22504056 PMID:22848613 PMID:22946748 PMID:22949144 PMID:23066759 PMID:23334464 PMID:23712037 PMID:23808377 PMID:25326635 PMID:25499160 PMID:25741868 PMID:26467025 PMID:26544041 PMID:26765483 PMID:26954813 PMID:26993267 PMID:27143072 PMID:27179713 PMID:27527380 PMID:27787195 PMID:28492532 PMID:28669061 PMID:28837158 PMID:29056246 PMID:29358611 PMID:29377098 PMID:29655203 PMID:29933145 PMID:29933521 PMID:30287595 PMID:30530412 PMID:30828795 PMID:31319225 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:104,734,035...104,760,658
Ensembl chr  X:104,734,082...104,760,547
JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:104,684,676...104,700,173
Ensembl chr  X:104,684,676...104,700,173
JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chr  X:104,719,930...104,729,606
Ensembl chr  X:104,719,940...104,726,816
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
dilated cardiomyopathy 1S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:28492532 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 PMID:29253866 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:11897440 PMID:15219508 PMID:15539782 PMID:16061563 PMID:16537768 PMID:17334235 PMID:18795223 PMID:19589617 PMID:20307303 PMID:22199124 PMID:22918509 PMID:23183350 PMID:23349452 PMID:23701190 PMID:24033266 PMID:24386194 PMID:25741868 PMID:25988045 PMID:26199943 PMID:26332594 PMID:26899768 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28663758 PMID:29791652 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S
ClinVar Annotator: match by term: Left ventricular noncompaction 5
ClinVar Annotator: match by OMIM:613426
ClinVar Annotator: match by synonym: Left ventricular noncompaction 5
OMIM
ClinVar
PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 PMID:2136805 PMID:2753225 PMID:3203908 PMID:4104682 PMID:7581410 PMID:7662452 PMID:7731997 PMID:7848420 PMID:7883988 PMID:7909436 PMID:8186698 PMID:8254035 PMID:8268932 PMID:8533830 PMID:8614836 PMID:8981935 PMID:9105042 PMID:9140839 PMID:9826622 PMID:9829907 PMID:9835779 PMID:9884344 PMID:10024460 PMID:10065021 PMID:10328076 PMID:10521296 PMID:10725281 PMID:10750581 PMID:10882745 PMID:10900182 PMID:11106718 PMID:11113006 PMID:11133230 PMID:11186938 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11861410 PMID:11861413 PMID:11968089 PMID:12081993 PMID:12379228 PMID:12707239 PMID:12749056 PMID:12818575 PMID:12820698 PMID:12881443 PMID:12975413 PMID:15010274 PMID:15136674 PMID:15322983 PMID:15358028 PMID:15483641 PMID:15528230 PMID:15556047 PMID:15563892 PMID:15769782 PMID:15856146 PMID:15858117 PMID:16115294 PMID:16137545 PMID:16199542 PMID:16253604 PMID:16267253 PMID:16630449 PMID:16684601 PMID:16754800 PMID:16858239 PMID:16918501 PMID:16983074 PMID:17097032 PMID:17125710 PMID:17336526 PMID:17351073 PMID:17372140 PMID:17438619 PMID:17476457 PMID:17560888 PMID:17612745 PMID:17947214 PMID:18029407 PMID:18258667 PMID:18374998 PMID:18380764 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18506004 PMID:18519860 PMID:18533079 PMID:18555187 PMID:18761664 PMID:18953637 PMID:19138847 PMID:19149795 PMID:19150014 PMID:19336582 PMID:19412328 PMID:19645038 PMID:19651039 PMID:19808347 PMID:19864899 PMID:19880069 PMID:20031602 PMID:20031618 PMID:20031619 PMID:20086309 PMID:20350521 PMID:20359594 PMID:20474083 PMID:20513729 PMID:20530761 PMID:20573160 PMID:20624503 PMID:20664766 PMID:20733148 PMID:20800588 PMID:20817590 PMID:20819418 PMID:20965760 PMID:20975235 PMID:20981092 PMID:21127202 PMID:21239446 PMID:21302287 PMID:21310275 PMID:21425739 PMID:21499742 PMID:21511876 PMID:21520333 PMID:21551322 PMID:21750094 PMID:21799269 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22337857 PMID:22429680 PMID:22455086 PMID:22464770 PMID:22763267 PMID:22765922 PMID:22857948 PMID:22859017 PMID:22918376 PMID:22949430 PMID:22958901 PMID:23054336 PMID:23197161 PMID:23233322 PMID:23281406 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23313350 PMID:23318932 PMID:23349452 PMID:23396983 PMID:23403236 PMID:23426552 PMID:23508784 PMID:23549607 PMID:23674513 PMID:23690394 PMID:23707328 PMID:23711808 PMID:23751935 PMID:23782526 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24119082 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24664454 PMID:24691700 PMID:24704860 PMID:24793961 PMID:25031304 PMID:25086479 PMID:25125180 PMID:25132132 PMID:25163446 PMID:25163546 PMID:25326635 PMID:25351510 PMID:25448463 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25649125 PMID:25666907 PMID:25714468 PMID:25741868 PMID:25892673 PMID:25935763 PMID:25937279 PMID:25937619 PMID:26220970 PMID:26458567 PMID:26467025 PMID:26468400 PMID:26497160 PMID:26573135 PMID:26688388 PMID:26743238 PMID:26846766 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27066506 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27483260 PMID:27532257 PMID:27576561 PMID:27600940 PMID:27707468 PMID:27737317 PMID:27788187 PMID:27831900 PMID:27841901 PMID:27884173 PMID:27930701 PMID:27965028 PMID:27974200 PMID:28125727 PMID:28138913 PMID:28193612 PMID:28241245 PMID:28265379 PMID:28356264 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28588093 PMID:28606303 PMID:28615295 PMID:28704380 PMID:28771489 PMID:28790153 PMID:28798025 PMID:28807990 PMID:28855170 PMID:28878402 PMID:28973424 PMID:29121657 PMID:29178653 PMID:29212898 PMID:29300372 PMID:29447731 PMID:30297972 PMID:30511546 PMID:30674652 PMID:30775854 PMID:31006259 PMID:31333075 PMID:31493341 PMID:31568572 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:18533079 PMID:20173211 PMID:21310275 PMID:22958901 PMID:23299917 PMID:23343568 PMID:23396983 PMID:24033266 PMID:24055113 PMID:24111713 PMID:25524337 PMID:25637381 PMID:25741868 PMID:27483260 PMID:27600940 PMID:28492532 PMID:28771489 PMID:30403391 PMID:31019283 NCBI chr12:39,951,863...39,959,065
Ensembl chr12:39,951,987...39,958,239
JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:19881492 PMID:20970104 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26383259 PMID:28492532 PMID:29253866 PMID:31028938 NCBI chr 2:257,452,937...257,484,607
Ensembl chr 2:257,453,347...257,484,587
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:23886709 PMID:24033266 PMID:24503780 PMID:24584570 PMID:25741868 PMID:28492532 NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
JBrowse link
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:18572189 PMID:19439414 PMID:20215591 PMID:20459070 PMID:21056975 PMID:21832052 PMID:24033266 PMID:27604170 PMID:28492532 PMID:28530094 PMID:28798025 NCBI chr16:7,292,207...7,295,238
Ensembl chr16:7,292,096...7,295,465
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:23861362 PMID:23975875 PMID:24033266 PMID:25589632 PMID:26467025 PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:24033266 PMID:24062880 PMID:24503780 PMID:27532257 PMID:28492532 NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
JBrowse link
Dilated Cardiomyopathy 3A 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: Dilated cardiomyopathy 3A 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
Dilated Cardiomyopathy with Left Ventricular Noncompaction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 3:105,507,403...105,512,939
Ensembl chr 3:105,507,403...105,512,939
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29447731 PMID:31110529 PMID:31333075 PMID:31568572 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Alpk3 alpha-kinase 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 1:142,882,997...142,931,940
Ensembl chr 1:142,883,040...142,931,940
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:31333075 PMID:31568572 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr20:25,063,124...26,640,428
Ensembl chr20:26,516,836...26,589,209
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:27930701 PMID:28492532 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19937601 PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 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 Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:31333075 PMID:31568572 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar PMID:20129281 PMID:20152563 PMID:21606396 PMID:21636032 PMID:21723241 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24503780 PMID:25637381 PMID:25661095 PMID:25693453 PMID:25741868 PMID:28471438 PMID:28492532 PMID:30775854 PMID:31333075 PMID:31568572 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 NCBI chr18:14,544,725...14,671,514
Ensembl chr18:14,471,213...14,657,332
JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:31333075 PMID:31568572 NCBI chr 1:23,237,617...23,611,580
Ensembl chr 1:23,409,408...23,610,164
JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 9:49,920,611...49,994,906
Ensembl chr 9:49,920,854...49,950,093
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:17646576 PMID:24569893 PMID:28492532 PMID:28855170 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 3:159,709,998...159,776,536
Ensembl chr 3:159,712,325...159,775,643
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:26220970 PMID:28492532 PMID:29334134 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, dilated, with left ventricular noncompaction
ClinVar PMID:14662268 PMID:15668942 PMID:17097056 PMID:19377068 PMID:20852297 PMID:22464770 PMID:22619057 PMID:22929165 PMID:22995991 PMID:23299917 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24647531 PMID:25163546 PMID:25326637 PMID:25351510 PMID:25617006 PMID:25741868 PMID:26419279 PMID:26467025 PMID:26636822 PMID:27561770 PMID:27896284 PMID:28349680 PMID:28492532 PMID:28798025 PMID:29032884 PMID:31333075 PMID:31568572 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9562578 PMID:12707239 PMID:15115610 PMID:15166115 PMID:15519027 PMID:16199542 PMID:18403758 PMID:18409188 PMID:18761664 PMID:18809796 PMID:19293840 PMID:19574547 PMID:20031618 PMID:20378854 PMID:20800588 PMID:20818890 PMID:21839045 PMID:22267749 PMID:22386539 PMID:22563033 PMID:22589294 PMID:23299917 PMID:23396983 PMID:23642604 PMID:23690394 PMID:24033266 PMID:24055113 PMID:24510615 PMID:24793961 PMID:24810389 PMID:25058872 PMID:25637381 PMID:25741868 PMID:26467025 PMID:27532257 PMID:28492532 PMID:28679633 PMID:29121657 PMID:31333075 PMID:31568572 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28491533 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar PMID:8533830 PMID:12379228 PMID:12707239 PMID:12749056 PMID:15358028 PMID:15556047 PMID:15563892 PMID:15769782 PMID:15858117 PMID:16115294 PMID:16137545 PMID:16253604 PMID:17125710 PMID:17476457 PMID:18383048 PMID:18403758 PMID:18414213 PMID:18506004 PMID:18533079 PMID:18953637 PMID:19149795 PMID:19150014 PMID:19412328 PMID:19477645 PMID:19645038 PMID:20086309 PMID:20359594 PMID:20474083 PMID:20664766 PMID:20975235 PMID:21551322 PMID:21750094 PMID:21959974 PMID:22464770 PMID:22763267 PMID:22859017 PMID:22918376 PMID:22958901 PMID:23233322 PMID:23299917 PMID:23403236 PMID:23508784 PMID:23711808 PMID:23861362 PMID:24033266 PMID:24111713 PMID:24503780 PMID:24664454 PMID:24721642 PMID:24758099 PMID:24793961 PMID:25086479 PMID:25132132 PMID:25342278 PMID:25351510 PMID:25576864 PMID:25611685 PMID:25637381 PMID:25741868 PMID:26458567 PMID:26467025 PMID:26468400 PMID:26743238 PMID:27082122 PMID:27247418 PMID:27387980 PMID:27532257 PMID:27600940 PMID:27707468 PMID:27788187 PMID:27930701 PMID:28492532 PMID:28518168 PMID:28606303 PMID:28704380 PMID:28790153 PMID:28807990 PMID:28855170 PMID:28878402 PMID:29300372 PMID:31333075 PMID:31568572 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 3:148,386,185...148,397,851
Ensembl chr 3:148,386,189...148,399,501
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 2:257,452,937...257,484,607
Ensembl chr 2:257,453,347...257,484,587
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:31333075 PMID:31568572 NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:12354768 PMID:12820704 PMID:15466642 PMID:15840476 PMID:16540748 PMID:17161064 PMID:17210839 PMID:18071069 PMID:18452873 PMID:19412328 PMID:20403459 PMID:20875080 PMID:22378279 PMID:22581653 PMID:23008441 PMID:23098067 PMID:24033266 PMID:24653702 PMID:25741868 PMID:26209461 PMID:26467025 PMID:26749013 PMID:27287068 PMID:28265756 PMID:28492532 PMID:28781330 PMID:29032884 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19438153 PMID:19700766 PMID:20530761 PMID:24033266 PMID:24342716 PMID:25741868 PMID:25941633 PMID:26350513 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction ClinVar NCBI chr16:7,292,207...7,295,238
Ensembl chr16:7,292,096...7,295,465
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:7898523 PMID:12818575 PMID:12881443 PMID:14636924 PMID:15542288 PMID:15958377 PMID:17101185 PMID:21310275 PMID:22958901 PMID:23861362 PMID:24033266 PMID:24093860 PMID:24503780 PMID:25741868 PMID:26507537 PMID:28255936 PMID:28492532 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction ClinVar PMID:11815424 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
JBrowse link
DNA ligase IV deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Lig4 syndrome
ClinVar Annotator: match by term: LIG4-Related Disorders
DNA:missense mutation: :p.R278H (mouse)
DNA:missense mutation, nonsense mutation: :p.K449Q (c.1345A>C), p.R814* (c.2440C>T) (human)
ClinVar Annotator: match by OMIM:606593
DNA:missense mutation: :p.Y288C (mouse)
OMIM
ClinVar
PMID:10395545 PMID:11349135 PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:16358361 PMID:16358631 PMID:16585603 PMID:18845326 PMID:23337116 PMID:23372718 PMID:24027040 PMID:24033266 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:26762768 PMID:27063650 PMID:27612988 PMID:27855655 PMID:27893162 PMID:28039949 PMID:28492532 PMID:28866308 PMID:29146883 PMID:30617623 PMID:30719430, PMID:20133615, PMID:27063650, PMID:19451691 RGD:13204717, RGD:13204707, RGD:8694074 NCBI chr16:85,331,771...85,339,496
Ensembl chr16:85,331,866...85,337,769
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 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