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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:Nervous System Heredodegenerative Disorders
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Accession:DOID:9001196 term browser browse the term
Definition:Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems.
Synonyms:exact_synonym: Degenerative Disease, Nervous System, Hereditary;   Degenerative Hereditary Disorders, Nervous System;   Hereditary Neurodegenerative Disease;   Hereditary Neurodegenerative Diseases;   Nervous System Degenerative Hereditary Diseases
 primary_id: MESH:D020271
 alt_id: RDO:0002544
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Nervous System Heredodegenerative Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cygb cytoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16825958 NCBI chr10:105,618,325...105,628,091
Ensembl chr10:105,618,326...105,628,091
JBrowse link
G Ftl1 ferritin light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16825958 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
JBrowse link
G Ngb neuroglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16825958 NCBI chr 6:111,126,259...111,131,699
Ensembl chr 6:111,126,261...111,132,320
JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:258501
OMIM
ClinVar
PMID:11668429, PMID:12126933, PMID:15342707, PMID:15902555, PMID:18985435, PMID:20350831, PMID:23700088, PMID:24136862, PMID:24749080, PMID:25159689, PMID:25201222, PMID:25205859, PMID:25741868, PMID:26190011, PMID:27528516, PMID:27629047, PMID:28081242, PMID:28492532, PMID:30311386 NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
ClinVar Annotator: match by OMIM:610198
OMIM
ClinVar
PMID:16055927, PMID:22797137, PMID:22981120, PMID:27928778, PMID:28492532, PMID:29625556 NCBI chr 2:120,503,093...120,531,782
Ensembl chr 2:120,504,130...120,531,782
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:14713218, PMID:14767898, PMID:15032602, PMID:15192815, PMID:15284851, PMID:15333254, PMID:15388659, PMID:15564782, PMID:15643618, PMID:15800013, PMID:15811009, PMID:15812458, PMID:15878823, PMID:16018167, PMID:16023551, PMID:16087056, PMID:16319717, PMID:16401743, PMID:16415970, PMID:16949688, PMID:16996397, PMID:17029209, PMID:17285533, PMID:17498713, PMID:17504626, PMID:17542813, PMID:17602313, PMID:17990484, PMID:18206987, PMID:18306728, PMID:18973459, PMID:19129531, PMID:19496984, PMID:19660195, PMID:19963315, PMID:20008255, PMID:20195870, PMID:20301491, PMID:20455653, PMID:20626745, PMID:20661612, PMID:20800589, PMID:20849526, PMID:20859061, PMID:21068741, PMID:21300044, PMID:21476988, PMID:21478203, PMID:21488864, PMID:21586746, PMID:21700483, PMID:21889498, PMID:21907609, PMID:21966424, PMID:22057157, PMID:22176151, PMID:22198747, PMID:22280810, PMID:22366764, PMID:22479560, PMID:22483867, PMID:22914231, PMID:23009600, PMID:23154058, PMID:23300730, PMID:23419472, PMID:23430809, PMID:23469258, PMID:23566833, PMID:23566848, PMID:23664929, PMID:23671276, PMID:23712774, PMID:23768953, PMID:23835273, PMID:23926373, PMID:24154795, PMID:24480483, PMID:24685009, PMID:24719134, PMID:24722136, PMID:24788897, PMID:25275259, PMID:25324868, PMID:25741868, PMID:26227820, PMID:26260157, PMID:26388597, PMID:26454440, PMID:26467025, PMID:26523528, PMID:26609365, PMID:27067449, PMID:27084228, PMID:27766264, PMID:27779215, PMID:28456143, PMID:28492532, PMID:28503596, PMID:28953922, PMID:29056270, PMID:29284317, PMID:29443243, PMID:30311386, PMID:30544401, PMID:30564185, PMID:30902905, PMID:31074578, PMID:32207279, PMID:8048932 RGD:1598655 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 8:59,184,111...59,240,133
Ensembl chr 8:59,184,113...59,239,954
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,873,094...156,888,762
Ensembl chr  X:156,873,849...156,888,761
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,407,973...156,415,053
Ensembl chr  X:156,407,937...156,415,145
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:148,421,627...148,422,921
Ensembl chr  X:148,421,627...148,422,921
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,319,687...156,328,974
Ensembl chr  X:156,319,687...156,328,309
JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,392,646...156,399,763
Ensembl chr  X:156,392,630...156,399,760
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 8:5,734,348...5,742,243
Ensembl chr 8:5,734,348...5,742,243
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mpp1 membrane palmitoylated protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr 1:148,450,213...148,458,945 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,863,655...156,868,950
Ensembl chr  X:156,863,754...156,868,950
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,569,683...156,589,907
Ensembl chr  X:156,569,683...156,589,907
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,963,343...156,993,591
Ensembl chr  X:156,963,870...156,993,591
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,363,400...156,379,433
Ensembl chr  X:156,363,405...156,379,189
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,438,251...156,440,461
Ensembl chr  X:156,438,251...156,440,461
JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,335,385...156,340,256
Ensembl chr  X:156,336,450...156,340,234
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,008,773...157,014,342
Ensembl chr  X:157,008,824...157,013,443
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,540,442...156,569,272
Ensembl chr  X:156,552,528...156,569,249
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,507,797...156,540,733
Ensembl chr  X:156,507,797...156,540,733
JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,340,919...156,343,771
Ensembl chr  X:156,340,925...156,343,777
JBrowse link
Adult Refsum Disease, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Refsum disease, adult, 1 ClinVar PMID:1155634, PMID:2433405, PMID:9326939, PMID:9326940, PMID:9657395, PMID:10767344, PMID:11555634, PMID:14974078, PMID:17905308, PMID:18612766, PMID:25741868, PMID:28041643, PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
Adult Refsum Disease, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B
ClinVar Annotator: match by OMIM:614879
OMIM
ClinVar
PMID:1773541, PMID:8295403, PMID:9090381, PMID:9090382, PMID:9090383, PMID:9472033, PMID:9686382, PMID:10083738, PMID:10673331, PMID:11756410, PMID:11781871, PMID:12325024, PMID:12522768, PMID:14974078, PMID:17325280, PMID:20301447, PMID:21465523, PMID:21990100, PMID:22008564, PMID:23352163, PMID:23572185, PMID:25741868, PMID:25800479, PMID:25851898, PMID:26408048, PMID:26467025, PMID:26587300, PMID:28492532, PMID:30311386 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
JBrowse link
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO DNA:duplication:cds (human)
ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset
ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant
ClinVar
OMIM
PMID:16951681, PMID:19151023, PMID:21225301, PMID:21909802, PMID:23649844, PMID:25741868, PMID:28492532, PMID:16951681 RGD:10044243 NCBI chr18:51,785,111...51,822,264
Ensembl chr18:51,785,111...51,822,264
JBrowse link
Alexander disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Alexander Disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alexander's disease
ClinVar Annotator: match by OMIM:203450
OMIM
ClinVar
CTD
PMID:1250985, PMID:1941292, PMID:11138011, PMID:11398833, PMID:11567214, PMID:11587071, PMID:11595337, PMID:11867077, PMID:12026242, PMID:12034785, PMID:12034796, PMID:12368989, PMID:12447932, PMID:12581808, PMID:12638020, PMID:12944715, PMID:12975300, PMID:14550921, PMID:14557587, PMID:15030911, PMID:15390001, PMID:15465095, PMID:15477559, PMID:15675360, PMID:15696488, PMID:15732097, PMID:15732098, PMID:16168593, PMID:16168595, PMID:16217707, PMID:16240361, PMID:16505300, PMID:16826512, PMID:16996408, PMID:17043438, PMID:17110673, PMID:17156703, PMID:17383133, PMID:17438228, PMID:17509491, PMID:17629821, PMID:17703343, PMID:17805552, PMID:17894839, PMID:17934883, PMID:17960815, PMID:17985264, PMID:18054694, PMID:18079314, PMID:18217876, PMID:18388212, PMID:18402384, PMID:18495313, PMID:18581469, PMID:18584981, PMID:18653683, PMID:18684770, PMID:19128991, PMID:19418047, PMID:19618846, PMID:19672978, PMID:19948199, PMID:20849398, PMID:21041050, PMID:21132324, PMID:21165639, PMID:21270471, PMID:21533827, PMID:21572052, PMID:21822933, PMID:21917775, PMID:21940697, PMID:21987397, PMID:22140645, PMID:22198646, PMID:22302460, PMID:22488673, PMID:22566711, PMID:22619055, PMID:22818990, PMID:23149175, PMID:23185175, PMID:23254569, PMID:23430549, PMID:23634874, PMID:23706596, PMID:23743246, PMID:23903069, PMID:23925719, PMID:24045243, PMID:24188966, PMID:24306001, PMID:24427505, PMID:24742911, PMID:24755947, PMID:25741868, PMID:26467025, PMID:26478912, PMID:26486469, PMID:28492532, PMID:28953922, PMID:30311386, PMID:31484723, PMID:219025661 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome
ClinVar Annotator: match by term: MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
ClinVar Annotator: match by OMIM:300523
OMIM
ClinVar
PMID:1605231, PMID:2393019, PMID:8484404, PMID:12871948, PMID:14661163, PMID:15889350, PMID:15980113, PMID:18187543, PMID:18398436, PMID:18414213, PMID:20628049, PMID:20655035, PMID:21098685, PMID:21896621, PMID:22805248, PMID:23550058, PMID:23568789, PMID:24265446, PMID:24629861, PMID:24665922, PMID:24721225, PMID:25167861, PMID:25527620, PMID:25644381, PMID:25741868, PMID:27212794, PMID:27672545, PMID:28492532 NCBI chr  X:74,578,600...74,706,068
Ensembl chr  X:74,577,131...74,706,214
JBrowse link
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 Intellectual Disability 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:1415255, 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:10398237, PMID:10417298, PMID:10570185, PMID:10602370, PMID:10632111, PMID:10995512, PMID:11015451, PMID:11050622, PMID:12032728, PMID:12116232, PMID:12673795, PMID:12858175, PMID:15508018, PMID:15591283, PMID:16118346, PMID:16722615, PMID:16763962, PMID:16813605, PMID:16955409, PMID:17579672, PMID:18409179, PMID:18414213, PMID:19005673, PMID:20500465, PMID:21505078, PMID:21653732, PMID:22995991, PMID:23681356, PMID:24082139, PMID:24289169, PMID:24327140, PMID:24728327, PMID:24759409, PMID:24805811, PMID:25167861, PMID:25326635, PMID:25326637, PMID:25741868, PMID:26467025, PMID:28293299, PMID:28371197, PMID:28371217, PMID:28492530, PMID:28492532, PMID:28708303, PMID:29304373, PMID:29602769, PMID:29910053, 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
Alstrom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alms1 ALMS1, centrosome and basal body associated protein susceptibility ISO DNA:frameshift mutations, nonsense mutations
ClinVar Annotator: match by term: Alstrom syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:203800
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple
ClinVar
CTD
OMIM
PMID:9063741, PMID:9409865, PMID:11941369, PMID:11941370, PMID:15689433, PMID:16720663, PMID:17594715, PMID:17850632, PMID:18038714, PMID:18154657, PMID:18414213, PMID:19763152, PMID:20307669, PMID:21157496, PMID:21877133, PMID:21897446, PMID:21901789, PMID:21943378, PMID:22406018, PMID:22447358, PMID:22555271, PMID:22773737, PMID:22876109, PMID:23847139, PMID:24033266, PMID:24049434, PMID:24400638, PMID:24462884, PMID:24595103, PMID:25296579, PMID:25468891, PMID:25533962, PMID:25706677, PMID:25741868, PMID:25846608, PMID:25999675, PMID:26010121, PMID:26047050, PMID:26104972, PMID:26111748, PMID:26239645, PMID:26283575, PMID:26467025, PMID:26636822, PMID:26992781, PMID:27178444, PMID:27665122, PMID:28402684, PMID:28432734, PMID:28492532, PMID:28502102, PMID:28717663, PMID:29079548, PMID:29345162, PMID:29610177, PMID:29715191, PMID:32581362, PMID:11941369, PMID:16720663, PMID:22876109, PMID:16000322, PMID:16513793 RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 4:117,371,544...117,472,310
Ensembl chr 4:117,371,659...117,472,198
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: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
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Atm ATM serine/threonine kinase ISO
IMP
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
ClinVar Annotator: match by term: Louis-Bar syndrome
DNA:deletion:exon:
ClinVar Annotator: match by OMIM:208900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1953577, PMID:2491181, PMID:2557216, PMID:2798560, PMID:3338800, PMID:6504056, PMID:7792600, PMID:7836845, PMID:8659541, PMID:8665503, PMID:8698354, PMID:8755918, PMID:8789452, PMID:8797579, PMID:8808599, PMID:8845835, PMID:8923007, PMID:8958160, PMID:8968760, PMID:9000145, PMID:9043869, PMID:9054948, PMID:9121450, PMID:9150358, PMID:9244351, PMID:9288106, PMID:9334731, PMID:9443866, PMID:9450874, PMID:9450906, PMID:9463314, PMID:9488043, PMID:9497252, PMID:9600235, PMID:9622061, PMID:9682216, PMID:9711876, PMID:9733514, PMID:9764584, PMID:9792409, PMID:9792410, PMID:9872980, PMID:9887333, PMID:9892178, PMID:10023947, PMID:10234507, PMID:10330348, PMID:10397742, PMID:10416970, PMID:10425038, PMID:10464642, PMID:10534763, PMID:10607471, PMID:10677309, PMID:10706620, PMID:10738255, PMID:10767628, PMID:10817650, PMID:10864201, PMID:10873394, PMID:10980530, PMID:11054065, PMID:11173867, PMID:11298136, PMID:11382771, PMID:11443540, PMID:11468183, PMID:11505391, PMID:11507241, PMID:11507245, PMID:11516106, PMID:11526498, PMID:11606401, PMID:11746755, PMID:11756177, PMID:11756185, PMID:11805335, PMID:11821961, PMID:11826028, PMID:11830610, PMID:11839094, PMID:11849780, PMID:11857346, PMID:11889466, PMID:11897820, PMID:11897822, PMID:11996792, PMID:12072877, PMID:12091354, PMID:12149228, PMID:12195425, PMID:12362033, PMID:12473176, PMID:12473594, PMID:12497634, PMID:12511424, PMID:12552559, PMID:12552566, PMID:12637545, PMID:12646636, PMID:12655570, PMID:12673794, PMID:12673797, PMID:12673804, PMID:12697903, PMID:12745884, PMID:12810666, PMID:12815592, PMID:12882767, PMID:12883528, PMID:12917204, PMID:12935922, PMID:12935933, PMID:12969974, PMID:14562025, PMID:14586414, PMID:14634505, PMID:14643952, PMID:14654357, PMID:14695186, PMID:14695534, PMID:14695997, PMID:14735203, PMID:14754616, PMID:14970866, PMID:15039971, PMID:15042666, PMID:15054841, PMID:15101044, PMID:15159313, PMID:15164409, PMID:15174027, PMID:15177039, PMID:15196260, PMID:15217508, PMID:15279807, PMID:15279808, PMID:15280931, PMID:15390180, PMID:15450731, PMID:15498871, PMID:15629612, PMID:15643608, PMID:15696190, PMID:15713674, PMID:15756685, PMID:15824023, PMID:15824150, PMID:15843990, PMID:15880680, PMID:15880721, PMID:15928302, PMID:16014569, PMID:16035317, PMID:16112413, PMID:16140923, PMID:16167060, PMID:16189143, PMID:16238588, PMID:16266405, PMID:16380133, PMID:16387360, PMID:16411093, PMID:16461462, PMID:16574953, PMID:16603769, PMID:16631465, PMID:16652348, PMID:16741161, PMID:16832357, PMID:16864838, PMID:16914028, PMID:16941484, PMID:16958054, PMID:16998505, PMID:17001622, PMID:17023046, PMID:17124347, PMID:17132159, PMID:17166884, PMID:17187232, PMID:17203191, PMID:17298726, PMID:17333338, PMID:17341484, PMID:17344846, PMID:17351744, PMID:17376192, PMID:17393301, PMID:17490827, PMID:17517479, PMID:17535973, PMID:17540590, PMID:17623063, PMID:17640065, PMID:17699107, PMID:17876757, PMID:17910737, PMID:17968022, PMID:17985259, PMID:18066086, PMID:18164969, PMID:18174244, PMID:18261794, PMID:18321536, PMID:18384426, PMID:18414213, PMID:18431795, PMID:18433505, PMID:18497957, PMID:18502988, PMID:18504682, PMID:18560558, PMID:18565893, PMID:18573109, PMID:18575927, PMID:18634022, PMID:18701470, PMID:18807267, PMID:18813293, PMID:18846412, PMID:19018867, PMID:19147735, PMID:19347964, PMID:19404735, PMID:19431188, PMID:19440741, PMID:19535770, PMID:19605768, PMID:19638463, PMID:19683821, PMID:19691550, PMID:19705055, PMID:19763152, PMID:19770270, PMID:19773425, PMID:19781682, PMID:19823873, PMID:20077034, PMID:20124459, PMID:20153123, PMID:20232390, PMID:20301790, PMID:20305132, PMID:20307669, PMID:20308662, PMID:20346647, PMID:20480175, PMID:20544271, PMID:20678261, PMID:20717907, PMID:20826828, PMID:20840352, PMID:20927582, PMID:20945614, PMID:20966255, PMID:20981092, PMID:21150274, PMID:21164480, PMID:21346221, PMID:21354641, PMID:21445571, PMID:21447618, PMID:21459046, PMID:21514219, PMID:21520333, PMID:21593342, PMID:21665257, PMID:21681852, PMID:21778326, PMID:21787400, PMID:21792198, PMID:21833744, PMID:21910157, PMID:21933854, PMID:21965147, PMID:21993670, PMID:22006793, PMID:22017321, PMID:22071889, PMID:22130802, PMID:22146522, PMID:22200977, PMID:22213089, PMID:22250480, PMID:22345219, PMID:22369572, PMID:22406018, PMID:22420423, PMID:22438227, PMID:22527104, PMID:22529920, PMID:22585167, PMID:22585170, PMID:22649200, PMID:22674506, PMID:22763152, PMID:22869595, PMID:22895193, PMID:22927201, PMID:22927308, PMID:22952040, PMID:22995991, PMID:23074045, PMID:23075580, PMID:23091097, PMID:23142947, PMID:23143971, PMID:23264026, PMID:23322442, PMID:23360865, PMID:23369113, PMID:23376243, PMID:23454770, PMID:23532176, PMID:23555315, PMID:23561644, PMID:23566627, PMID:23585368, PMID:23585524, PMID:23612382, PMID:23632773, PMID:23640770, PMID:23652012, PMID:23667852, PMID:23671275, PMID:23726790, PMID:23761041, PMID:23774824, PMID:23807571, PMID:23836671, PMID:23946315, PMID:23960188, PMID:24033266, PMID:24088041, PMID:24090759, PMID:24113346, PMID:24120321, PMID:24142997, PMID:24172824, PMID:24197801, PMID:24201163, PMID:24204193, PMID:24325359, PMID:24326041, PMID:24356096, PMID:24368146, PMID:24405665, PMID:24416720, PMID:24422204, PMID:24448499, PMID:24451234, PMID:24512911, PMID:24549055, PMID:24556621, PMID:24568663, PMID:24628946, PMID:24643969, PMID:24682267, PMID:24695838, PMID:24728327, PMID:24733792, PMID:24763289, PMID:24789685, PMID:24825865, PMID:24831771, PMID:24886963, PMID:24935205, PMID:24951259, PMID:25032865, PMID:25037873, PMID:25040471, PMID:25042771, PMID:25058500, PMID:25077176, PMID:25101980, PMID:25117502, PMID:25122203, PMID:25133958, PMID:25148578, PMID:25151137, PMID:25159481, PMID:25182519, PMID:25186627, PMID:25231023, PMID:25232094, PMID:25257301, PMID:25275298, PMID:25303977, PMID:25318351, PMID:25320358, PMID:25326635, PMID:25330149, PMID:25356970, PMID:25374739, PMID:25428789, PMID:25452441, PMID:25460276, PMID:25479140, PMID:25480502, PMID:25502423, PMID:25503501, PMID:25523272, PMID:25525159, PMID:25587027, PMID:25589003, PMID:25614872, PMID:25625042, PMID:25741868, PMID:25749350, PMID:25793145, PMID:25862857, PMID:25877891, PMID:25882375, PMID:25914063, PMID:25925381, PMID:25925954, PMID:25938944, PMID:25957637, PMID:25980754, PMID:26009992, PMID:26010451, PMID:26022348, PMID:26023681, PMID:26053404, PMID:26085511, PMID:26094658, PMID:26098866, PMID:26112015, PMID:26123645, PMID:26155992, PMID:26164066, PMID:26182300, PMID:26206375, PMID:26207792, PMID:26214590, PMID:26220245, PMID:26246601, PMID:26247737, PMID:26250988, PMID:26270727, PMID:26296696, PMID:26296701, PMID:26320869, PMID:26344566, PMID:26380989, PMID:26439923, PMID:26467025, PMID:26483394, PMID:26506520, PMID:26530882, PMID:26534844, PMID:26556299, PMID:26580448, PMID:26628246, PMID:26633542, PMID:26633545, PMID:26635394, PMID:26662178, PMID:26667234, PMID:26677768, PMID:26681312, PMID:26689913, PMID:26692440, PMID:26693373, PMID:26757417, PMID:26771497, PMID:26778106, PMID:26787654, PMID:26822949, PMID:26824983, PMID:26837699, PMID:26845104, PMID:26846839, PMID:26878173, PMID:26898890, PMID:26901136, PMID:26911350, PMID:26915675, PMID:26917275, PMID:26976419, PMID:27016235, PMID:27034805, PMID:27039262, PMID:27064202, PMID:27067391, PMID:27083775, PMID:27093186, PMID:27121310, PMID:27146902, PMID:27149842, PMID:27150160, PMID:27153395, PMID:27159176, PMID:27276934, PMID:27304073, PMID:27413114, PMID:27433846, PMID:27443514, PMID:27449771, PMID:27460089, PMID:27479817, PMID:27484032, PMID:27498913, PMID:27528516, PMID:27553368, PMID:27581129, PMID:27595995, PMID:27599564, PMID:27602502, PMID:27616075, PMID:27621404, PMID:27664052, PMID:27671921, PMID:27720647, PMID:27732944, PMID:27779110, PMID:27782108, PMID:27798748, PMID:27803004, PMID:27844328, PMID:27854218, PMID:27871447, PMID:27873105, PMID:27878467, PMID:27884168, PMID:27913932, PMID:27932211, PMID:27959900, PMID:27978560, PMID:27980538, PMID:27988859, PMID:27989354, PMID:27997549, PMID:28007021, PMID:28008555, PMID:28051113, PMID:28076423, PMID:28093192, PMID:28093616, PMID:28126470, PMID:28135048, PMID:28135145, PMID:28152038, PMID:28170084, PMID:28182994, PMID:28188106, PMID:28195393, PMID:28202063, PMID:28211887, PMID:28281021, PMID:28282032, PMID:28338653, PMID:28423363, PMID:28440963, PMID:28486781, PMID:28492530, PMID:28492532, PMID:28497333, PMID:28503720, PMID:28528518, PMID:28569218, PMID:28580595, PMID:28591191, PMID:28608266, PMID:28640387, PMID:28652578, PMID:28657667, PMID:28687356, PMID:28687971, PMID:28716242, PMID:28717660, PMID:28724667, PMID:28726808, PMID:28767289, PMID:28779002, PMID:28825054, PMID:28828701, PMID:28830922, PMID:28843361, PMID:28849312, PMID:28873162, PMID:28875981, PMID:28878254, PMID:28894253, PMID:28956312, PMID:28975018, PMID:28975465, PMID:29036293, PMID:29059438, PMID:29101607, PMID:29141312, PMID:29271107, PMID:29335925, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29415044, PMID:29423082, PMID:29449433, PMID:29458332, PMID:29470806, PMID:29478780, PMID:29482223, PMID:29486991, PMID:29487225, PMID:29506079, PMID:29506128, PMID:29522266, PMID:29555771, PMID:29566657, PMID:29596542, PMID:29600275, PMID:29641532, PMID:29642553, PMID:29659569, PMID:29664460, PMID:29665859, PMID:29667044, PMID:29678143, PMID:29684080, PMID:29719442, PMID:29752822, PMID:29753700, PMID:29778231, PMID:29785153, PMID:29789584, PMID:29866652, PMID:29888287, PMID:29909963, PMID:29915322, PMID:29922827, PMID:29945567, PMID:29946849, PMID:29954938, PMID:30067863, PMID:30086788, PMID:30093976, PMID:30128536, PMID:30197789, PMID:30214756, PMID:30233647, PMID:30256826, PMID:30262796, PMID:30287823, PMID:30303537, PMID:30306255, PMID:30309722, PMID:30311386, PMID:30363071, PMID:30374176, PMID:30389154, PMID:30402232, PMID:30426508, PMID:30447919, PMID:30482293, PMID:30504431, PMID:30537493, PMID:30549301, PMID:30553997, PMID:30584090, PMID:30607632, PMID:30620386, PMID:30651582, PMID:30666157, PMID:30713859, PMID:30713931, PMID:30723761, PMID:30730459, PMID:30814645, PMID:30819809, PMID:30883245, PMID:30927251, PMID:30938815, PMID:30982232, PMID:30995915, PMID:31050087, PMID:31054420, PMID:31118792, PMID:31125277, PMID:31139954, PMID:31159747, PMID:31160347, PMID:31227566, PMID:31263571, PMID:31360874, PMID:31428572, PMID:31666926, PMID:31742824, PMID:31815095, PMID:31843900, PMID:31867841, PMID:31919090, PMID:32183364, PMID:32566746, PMID:197781682, PMID:28007901, PMID:19626507 RGD:12879399, RGD:10053611 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
G Bak1 BCL2-antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
JBrowse link
G Bax BCL2 associated X, apoptosis regulator susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bik BCL2-interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:124,390,924...124,410,449
Ensembl chr 7:124,391,432...124,410,447
JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704, PMID:22466704, PMID:22466704 RGD:9681455, RGD:9681455, RGD:9681455 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Npat nuclear protein, co-activator of histone transcription ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 8:58,120,179...58,158,052
Ensembl chr 8:58,120,179...58,158,052
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Ataxia Telangiectasia
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C
ClinVar PMID:2557216, PMID:3338800, PMID:6504056, PMID:7792600, PMID:8659541, PMID:8665503, PMID:8698354, PMID:8755918, PMID:8797579, PMID:8808599, PMID:8845835, PMID:8923007, PMID:9000145, PMID:9043869, PMID:9054948, PMID:9150358, PMID:9244351, PMID:9288106, PMID:9334731, PMID:9443866, PMID:9450874, PMID:9463314, PMID:9488043, PMID:9497252, PMID:9622061, PMID:9682216, PMID:9711876, PMID:9733514, PMID:9764584, PMID:9792409, PMID:9792410, PMID:9872980, PMID:9887333, PMID:10023947, PMID:10234507, PMID:10330348, PMID:10397742, PMID:10416970, PMID:10425038, PMID:10464642, PMID:10534763, PMID:10706620, PMID:10738255, PMID:10817650, PMID:10864201, PMID:10873394, PMID:10980530, PMID:11054065, PMID:11298136, PMID:11382771, PMID:11443540, PMID:11468183, PMID:11505391, PMID:11606401, PMID:11746755, PMID:11756177, PMID:11756185, PMID:11805335, PMID:11826028, PMID:11830610, PMID:11849780, PMID:11857346, PMID:11897822, PMID:12091354, PMID:12149228, PMID:12195425, PMID:12473594, PMID:12497634, PMID:12511424, PMID:12552559, PMID:12552566, PMID:12646636, PMID:12655570, PMID:12673797, PMID:12673804, PMID:12697903, PMID:12745884, PMID:12810666, PMID:12815592, PMID:12882767, PMID:12883528, PMID:12917204, PMID:12935922, PMID:12969974, PMID:14586414, PMID:14654357, PMID:14754616, PMID:14970866, PMID:15039971, PMID:15101044, PMID:15159313, PMID:15174027, PMID:15279808, PMID:15390180, PMID:15696190, PMID:15756685, PMID:15843990, PMID:15880721, PMID:15928302, PMID:16014569, PMID:16140923, PMID:16189143, PMID:16238588, PMID:16266405, PMID:16380133, PMID:16387360, PMID:16411093, PMID:16461462, PMID:16603769, PMID:16631465, PMID:16652348, PMID:16832357, PMID:16864838, PMID:16914028, PMID:16941484, PMID:16958054, PMID:17001622, PMID:17124347, PMID:17132159, PMID:17166884, PMID:17298726, PMID:17333338, PMID:17344846, PMID:17376192, PMID:17393301, PMID:17517479, PMID:17540590, PMID:17623063, PMID:17640065, PMID:17910737, PMID:17968022, PMID:18066086, PMID:18321536, PMID:18384426, PMID:18414213, PMID:18431795, PMID:18497957, PMID:18504682, PMID:18560558, PMID:18573109, PMID:18575927, PMID:18634022, PMID:18807267, PMID:18813293, PMID:19018867, PMID:19347964, PMID:19404735, PMID:19431188, PMID:19440741, PMID:19535770, PMID:19605768, PMID:19691550, PMID:19763152, PMID:19781682, PMID:19823873, PMID:20077034, PMID:20153123, PMID:20232390, PMID:20301790, PMID:20305132, PMID:20307669, PMID:20346647, PMID:20480175, PMID:20840352, PMID:20945614, PMID:20966255, PMID:21150274, PMID:21346221, PMID:21354641, PMID:21445571, PMID:21459046, PMID:21665257, PMID:21778326, PMID:21787400, PMID:21792198, PMID:21833744, PMID:21933854, PMID:21965147, PMID:21993670, PMID:22006793, PMID:22017321, PMID:22071889, PMID:22146522, PMID:22213089, PMID:22250480, PMID:22345219, PMID:22369572, PMID:22406018, PMID:22420423, PMID:22529920, PMID:22585167, PMID:22585170, PMID:22649200, PMID:22674506, PMID:22869595, PMID:22895193, PMID:22952040, PMID:22995991, PMID:23091097, PMID:23142947, PMID:23143971, PMID:23264026, PMID:23322442, PMID:23454770, PMID:23532176, PMID:23555315, PMID:23585368, PMID:23585524, PMID:23632773, PMID:23640770, PMID:23667852, PMID:23671275, PMID:23761041, PMID:23774824, PMID:23807571, PMID:23836671, PMID:23946315, PMID:24033266, PMID:24088041, PMID:24090759, PMID:24172824, PMID:24326041, PMID:24416720, PMID:24448499, PMID:24451234, PMID:24556621, PMID:24628946, PMID:24643969, PMID:24728327, PMID:24733792, PMID:24789685, PMID:24951259, PMID:25032865, PMID:25037873, PMID:25040471, PMID:25042771, PMID:25058500, PMID:25077176, PMID:25117502, PMID:25122203, PMID:25133958, PMID:25148578, PMID:25151137, PMID:25182519, PMID:25186627, PMID:25232094, PMID:25318351, PMID:25320358, PMID:25326635, PMID:25330149, PMID:25374739, PMID:25428789, PMID:25452441, PMID:25460276, PMID:25479140, PMID:25480502, PMID:25502423, PMID:25503501, PMID:25523272, PMID:25525159, PMID:25587027, PMID:25589003, PMID:25614872, PMID:25625042, PMID:25741868, PMID:25793145, PMID:25877891, PMID:25914063, PMID:25925381, PMID:25925954, PMID:25938944, PMID:25957637, PMID:25980754, PMID:26009992, PMID:26022348, PMID:26053404, PMID:26094658, PMID:26182300, PMID:26206375, PMID:26220245, PMID:26246601, PMID:26247737, PMID:26270727, PMID:26296696, PMID:26296701, PMID:26344566, PMID:26380989, PMID:26439923, PMID:26467025, PMID:26483394, PMID:26506520, PMID:26530882, PMID:26534844, PMID:26556299, PMID:26580448, PMID:26628246, PMID:26633542, PMID:26633545, PMID:26662178, PMID:26677768, PMID:26681312, PMID:26689913, PMID:26692440, PMID:26693373, PMID:26787654, PMID:26822949, PMID:26824983, PMID:26837699, PMID:26845104, PMID:26898890, PMID:26901136, PMID:26915675, PMID:26917275, PMID:26976419, PMID:27083775, PMID:27121310, PMID:27153395, PMID:27159176, PMID:27304073, PMID:27433846, PMID:27443514, PMID:27449771, PMID:27479817, PMID:27498913, PMID:27528516, PMID:27581129, PMID:27595995, PMID:27602502, PMID:27616075, PMID:27621404, PMID:27664052, PMID:27720647, PMID:27732944, PMID:27798748, PMID:27873105, PMID:27878467, PMID:27913932, PMID:27932211, PMID:27959900, PMID:27978560, PMID:27988859, PMID:28007021, PMID:28008555, PMID:28051113, PMID:28093192, PMID:28093616, PMID:28135145, PMID:28152038, PMID:28170084, PMID:28188106, PMID:28195393, PMID:28338653, PMID:28423363, PMID:28486781, PMID:28492532, PMID:28503720, PMID:28580595, PMID:28591191, PMID:28608266, PMID:28652578, PMID:28687356, PMID:28716242, PMID:28717660, PMID:28724667, PMID:28726808, PMID:28767289, PMID:28779002, PMID:28825054, PMID:28828701, PMID:28843361, PMID:28873162, PMID:28875981, PMID:28975465, PMID:29036293, PMID:29141312, PMID:29335925, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29415044, PMID:29470806, PMID:29478780, PMID:29522266, PMID:29555771, PMID:29566657, PMID:29596542, PMID:29600275, PMID:29664460, PMID:29667044, PMID:29678143, PMID:29684080, PMID:29719442, PMID:29752822, PMID:29753700, PMID:29888287, PMID:29909963, PMID:29922827, PMID:29945567, PMID:29946849, PMID:29954938, PMID:30067863, PMID:30086788, PMID:30128536, PMID:30197789, PMID:30214756, PMID:30256826, PMID:30287823, PMID:30303537, PMID:30311386, PMID:30363071, PMID:30374176, PMID:30426508, PMID:30447919, PMID:30504431, PMID:30549301, PMID:30607632, PMID:30620386, PMID:30723761, PMID:30730459, PMID:30814645, PMID:30819809, PMID:30927251, PMID:31054420, PMID:31118792, PMID:31125277, PMID:31139954, PMID:31159747, PMID:31160347, PMID:31843900, PMID:31919090, PMID:32183364, PMID:32566746 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder
CTD
ClinVar
PMID:8445618, PMID:8684395, PMID:9845372, PMID:10612394, PMID:11196167, PMID:11238951, PMID:11371508, PMID:12966088, PMID:14684699, PMID:14690604, PMID:15269180, PMID:16858402, PMID:19383352, PMID:20052722, PMID:20805886, PMID:21227757, PMID:22006311, PMID:22078559, PMID:22139912, PMID:22705791, PMID:22863007, PMID:23080121, PMID:23436002, PMID:23718828, PMID:23755103, PMID:23912341, PMID:24030952, PMID:24033266, PMID:24093751, PMID:24549055, PMID:24556621, PMID:24763289, PMID:24894818, PMID:25040471, PMID:25326635, PMID:25452441, PMID:25503501, PMID:25741868, PMID:26057807, PMID:26467025, PMID:26483394, PMID:26534844, PMID:26633542, PMID:26680607, PMID:26757417, PMID:26786923, PMID:26787654, PMID:26845104, PMID:26898890, PMID:27153395, PMID:27329137, PMID:27433846, PMID:27621404, PMID:27783279, PMID:27878467, PMID:28051113, PMID:28125075, PMID:28152038, PMID:28202063, PMID:28486781, PMID:28492532, PMID:28524162, PMID:28559769, PMID:28849312, PMID:28873162, PMID:29170652, PMID:29348823, PMID:29371908, PMID:29752822, PMID:29922827, PMID:30441849, PMID:32566746 NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin susceptibility ISO ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia
ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
ClinVar Annotator: match by OMIM:208920
OMIM
ClinVar
PMID:11176957, PMID:11294920, PMID:11586299, PMID:11586300, PMID:12196655, PMID:12629250, PMID:14506070, PMID:15164193, PMID:15365154, PMID:15596775, PMID:15699391, PMID:15790557, PMID:15852392, PMID:15996403, PMID:16400613, PMID:16700949, PMID:17242337, PMID:21465257, PMID:23659632, PMID:24033266, PMID:25637650, PMID:25741868, PMID:26285866, PMID:26467025, PMID:28492532, PMID:28652255, PMID:28881617, PMID:29356829, PMID:29482223, PMID:32214227, PMID:21465257, PMID:17572444, PMID:12196655 RGD:10054301, RGD:10054300, RGD:1599207 NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
ataxia with oculomotor apraxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266, PMID:26467025, PMID:28492532 NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 1
ClinVar Annotator: match by term: Ataxia-ocular apraxia-2
ClinVar Annotator: match by OMIM:606002
OMIM
ClinVar
PMID:14770181, PMID:15106121, PMID:15732101, PMID:17159128, PMID:18058631, PMID:18414213, PMID:18625865, PMID:19569000, PMID:19696032, PMID:20540686, PMID:20981092, PMID:21190393, PMID:22088787, PMID:23129421, PMID:23757202, PMID:23806086, PMID:23881933, PMID:23941260, PMID:24033266, PMID:24088041, PMID:25025039, PMID:25174650, PMID:25299611, PMID:25326635, PMID:25382069, PMID:25741868, PMID:25802885, PMID:26257172, PMID:26467025, PMID:26601740, PMID:26633545, PMID:27013921, PMID:27790088, PMID:28130640, PMID:28492532, PMID:28642336, PMID:28832565, PMID:29650794, PMID:30311386 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 ISO ClinVar Annotator: match by OMIM:615217 OMIM
ClinVar
PMID:22065524 NCBI chr10:55,013,686...55,078,986
Ensembl chr10:55,013,703...55,080,421
JBrowse link
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar
PMID:7165045, PMID:10446192, PMID:18414213, PMID:20118933, PMID:22508754, PMID:23224214, PMID:24965255, PMID:25558065, PMID:25728773, PMID:25741868, PMID:26467025, PMID:27066567, PMID:27165045, PMID:27232581, PMID:28492532, PMID:30039206, PMID:31061747 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:8755918, PMID:8808599, PMID:9000145, PMID:9288106, PMID:9463314, PMID:9792410, PMID:9887333, PMID:10234507, PMID:10330348, PMID:11382771, PMID:11826028, PMID:11830610, PMID:14654357, PMID:15054841, PMID:15174027, PMID:16958054, PMID:17001622, PMID:18575927, PMID:18634022, PMID:19431188, PMID:19535770, PMID:19781682, PMID:19823873, PMID:21787400, PMID:21792198, PMID:22345219, PMID:22529920, PMID:23143971, PMID:24088041, PMID:24733792, PMID:25037873, PMID:25040471, PMID:25077176, PMID:25186627, PMID:25525159, PMID:25741868, PMID:25914063, PMID:25980754, PMID:26506520, PMID:26633545, PMID:26681312, PMID:27528516, PMID:27595995, PMID:27798748, PMID:27978560, PMID:27988859, PMID:28008555, PMID:28492532, PMID:28779002, PMID:29719442, PMID:30504431, PMID:30549301, PMID:30819809 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:8755918, PMID:8808599, PMID:9000145, PMID:9288106, PMID:9463314, PMID:9792410, PMID:9887333, PMID:10234507, PMID:10330348, PMID:11382771, PMID:11826028, PMID:11830610, PMID:14654357, PMID:15174027, PMID:16958054, PMID:17001622, PMID:18575927, PMID:18634022, PMID:19431188, PMID:19781682, PMID:19823873, PMID:21787400, PMID:21792198, PMID:22345219, PMID:22529920, PMID:23143971, PMID:24088041, PMID:24733792, PMID:25037873, PMID:25040471, PMID:25077176, PMID:25186627, PMID:25741868, PMID:25914063, PMID:25980754, PMID:26506520, PMID:26633545, PMID:26681312, PMID:27528516, PMID:27595995, PMID:27798748, PMID:27978560, PMID:27988859, PMID:28008555, PMID:28492532, PMID:28779002, PMID:29719442, PMID:30504431, PMID:30549301 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
JBrowse link
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1
ClinVar Annotator: match by OMIM:604391
OMIM
ClinVar
PMID:8445618, PMID:8684395, PMID:9845372, PMID:10612394, PMID:11196167, PMID:11238951, PMID:11371508, PMID:12966088, PMID:14684699, PMID:14690604, PMID:15269180, PMID:15574463, PMID:16858402, PMID:18652530, PMID:18854157, PMID:19383352, PMID:20052722, PMID:20805886, PMID:21227757, PMID:21252998, PMID:21324166, PMID:22006311, PMID:22078559, PMID:22139912, PMID:22705791, PMID:22863007, PMID:23080121, PMID:23436002, PMID:23718828, PMID:23912341, PMID:24030952, PMID:24033266, PMID:24332946, PMID:24549055, PMID:24733832, PMID:24763289, PMID:24894818, PMID:25040471, PMID:25326635, PMID:25452441, PMID:25503501, PMID:25741868, PMID:26467025, PMID:26483394, PMID:26534844, PMID:26633542, PMID:26680607, PMID:26786923, PMID:26787654, PMID:26845104, PMID:26898890, PMID:27124789, PMID:27153395, PMID:27329137, PMID:27621404, PMID:27783279, PMID:27878467, PMID:28051113, PMID:28125075, PMID:28152038, PMID:28202063, PMID:28486781, PMID:28492532, PMID:28559769, PMID:28849312, PMID:29170652, PMID:29348823, PMID:29752822, PMID:29922827, PMID:30441849, PMID:32566746 NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
JBrowse link
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar
PMID:24911150 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
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 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
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY ClinVar
OMIM
PMID:24033266, PMID:25741868, PMID:28965846 NCBI chr10:103,817,724...103,826,413
Ensembl chr10:103,817,704...103,826,448
JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
ClinVar Annotator: match by OMIM:604121
OMIM
ClinVar
PMID:8747854, PMID:22328086, PMID:25741868 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by OMIM:614296
OMIM
ClinVar
PMID:10679252, PMID:11295831, PMID:12022290, PMID:15605410, PMID:16648378, PMID:17492394, PMID:18544103, PMID:19877185, PMID:20069065, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21538838, PMID:21917145, PMID:22238590, PMID:24033266, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26435059, PMID:26467025, PMID:26875006, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:28590052, PMID:29529044 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
autosomal recessive cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:24033266, PMID:25089919, PMID:25133958, PMID:25182700, PMID:25664549, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 8:130,812,941...130,931,021
Ensembl chr 8:130,813,214...130,930,990
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:18414213, PMID:22036850, PMID:24164873, PMID:25741868, PMID:26467025, PMID:26640698, PMID:28492532 NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419
JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:26467025, PMID:28492532 NCBI chr 1:219,964,429...220,006,811
Ensembl chr 1:219,964,429...220,005,068
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:17159980, PMID:24033266, PMID:25843669, PMID:26467025, PMID:27782104 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar NCBI chr 6:123,895,860...123,963,688
Ensembl chr 6:123,897,956...123,963,675
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia ClinVar PMID:17614277, PMID:20479361, PMID:20659899, PMID:21689831, PMID:24018892, PMID:25355836, PMID:25741868, PMID:26206283, PMID:26467025, PMID:27551684, PMID:28492532, PMID:29458409 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
autosomal recessive spinocerebellar ataxia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 10
ClinVar Annotator: match by OMIM:613728
OMIM
ClinVar
PMID:21092923, PMID:24033266, PMID:25089919, PMID:25133958, PMID:25182700, PMID:25425649, PMID:25664549, PMID:25730773, PMID:25741868, PMID:26467025, PMID:27091155, PMID:27142713, PMID:27270446, PMID:28492532 NCBI chr 8:130,812,941...130,931,021
Ensembl chr 8:130,813,214...130,930,990
JBrowse link
autosomal recessive spinocerebellar ataxia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syt14 synaptotagmin 14 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 11
ClinVar Annotator: match by OMIM:614229
OMIM
ClinVar
PMID:21835308 NCBI chr13:111,630,005...111,766,334
Ensembl chr13:111,635,639...111,765,944
JBrowse link
autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 12
ClinVar PMID:24369382, PMID:28492532, PMID:32214227 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 12
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
ClinVar Annotator: match by OMIM:614322
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:17470496, PMID:24369382, PMID:25411445, PMID:25741868, PMID:28492532, PMID:29358611, PMID:32214227 NCBI chr19:46,761,353...47,695,247 JBrowse link
autosomal recessive spinocerebellar ataxia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 13 OMIM
ClinVar
PMID:25741868, PMID:26467025 NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
JBrowse link
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 14
ClinVar Annotator: match by OMIM:615386
OMIM
ClinVar
PMID:17940722, PMID:23236289, PMID:23838597, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29590070 NCBI chr 1:219,964,429...220,006,811
Ensembl chr 1:219,964,429...220,005,068
JBrowse link
autosomal recessive spinocerebellar ataxia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rubcn rubicon autophagy regulator ISO ClinVar Annotator: match by OMIM:615705
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 15
ClinVar
OMIM
PMID:20826435, PMID:23728897, PMID:25741868, PMID:28492532 NCBI chr11:71,150,506...71,199,254
Ensembl chr11:71,151,132...71,197,035
JBrowse link
autosomal recessive spinocerebellar ataxia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 16
ClinVar PMID:24113144, PMID:24742043, PMID:25741868 NCBI chr10:15,195,954...15,198,870
Ensembl chr10:15,195,969...15,198,868
JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by OMIM:615768
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 16
ClinVar
OMIM
PMID:24113144, PMID:24312598, PMID:24742043, PMID:25258038, PMID:25741868 NCBI chr10:15,197,754...15,200,035
Ensembl chr10:15,197,803...15,200,117
JBrowse link
autosomal recessive spinocerebellar ataxia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cwf19l1 CWF19 like cell cycle control factor 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 17
ClinVar Annotator: match by OMIM:616127
OMIM
ClinVar
PMID:15981765, PMID:18414213, PMID:25361784, PMID:25741868, PMID:26197978, PMID:27016154 NCBI chr 1:263,887,014...263,910,251
Ensembl chr 1:263,887,015...263,910,251
JBrowse link
autosomal recessive spinocerebellar ataxia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grid2 glutamate ionotropic receptor delta type subunit 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 18 OMIM
ClinVar
PMID:23611888, PMID:24078737, PMID:25741868 NCBI chr 4:94,068,112...95,476,864
Ensembl chr 4:94,696,965...95,442,778
JBrowse link
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a1 solute carrier family 9 member A1 ISO ClinVar Annotator: match by term: Lichtenstein-knorr syndrome OMIM
ClinVar
PMID:25205112, PMID:25741868 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
JBrowse link
autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 2 ClinVar
OMIM
PMID:10528257, PMID:25808372, PMID:26657514 NCBI chr 3:3,834,262...3,842,061
Ensembl chr 3:3,834,078...3,842,078
JBrowse link
autosomal recessive spinocerebellar ataxia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 20 ClinVar NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Snx14 sorting nexin 14 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 20 OMIM
ClinVar
PMID:24501761, PMID:25439728, PMID:25741868, PMID:25848753, PMID:27913285 NCBI chr 8:96,018,943...96,088,405
Ensembl chr 8:96,023,445...96,088,405
JBrowse link
autosomal recessive spinocerebellar ataxia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 21
ClinVar Annotator: match by term: CALFAN syndrome
OMIM
ClinVar
PMID:25741868, PMID:29419818 NCBI chr 1:221,115,992...221,129,668
Ensembl chr 1:221,115,860...221,129,654
JBrowse link
autosomal recessive spinocerebellar ataxia 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vwa3b von Willebrand factor A domain containing 3B ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 ClinVar
OMIM
PMID:26157035 NCBI chr 9:43,607,066...43,779,466
Ensembl chr 9:43,607,669...43,779,463
JBrowse link
autosomal recessive spinocerebellar ataxia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 23 ClinVar
OMIM
PMID:24658003, PMID:30109272 NCBI chr17:42,229,667...42,241,025
Ensembl chr17:42,229,642...42,241,066
JBrowse link
autosomal recessive spinocerebellar ataxia 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 ClinVar
OMIM
PMID:26872069 NCBI chr 8:112,578,607...112,594,192
Ensembl chr 8:112,578,590...112,594,261
JBrowse link
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg5 autophagy related 5 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 ClinVar
OMIM
PMID:15981765, PMID:26812546 NCBI chr20:49,301,783...49,393,147
Ensembl chr20:49,318,308...49,393,140
JBrowse link
autosomal recessive spinocerebellar ataxia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc1 X-ray repair cross complementing 1 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 ClinVar
OMIM
PMID:28002403 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
JBrowse link
autosomal recessive spinocerebellar ataxia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap2 ganglioside-induced differentiation-associated-protein 2 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 OMIM
ClinVar
PMID:30084953 NCBI chr 2:202,470,485...202,526,849
Ensembl chr 2:202,470,487...202,526,849
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thg1l tRNA-histidine guanylyltransferase 1-like ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 OMIM
ClinVar
PMID:1168944, PMID:27307223 NCBI chr10:31,043,647...31,052,092
Ensembl chr10:31,043,688...31,052,102
JBrowse link
autosomal recessive spinocerebellar ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 4
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
ClinVar
OMIM
PMID:11960835, PMID:25741868, PMID:28492532, PMID:29518281, PMID:29604224 NCBI chr 5:162,891,451...163,119,239
Ensembl chr 5:162,891,451...163,119,239
JBrowse link
autosomal recessive spinocerebellar ataxia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 7
OMIM
ClinVar
PMID:9295267, PMID:9788728, PMID:10330339, PMID:11339651, PMID:12376936, PMID:15317752, PMID:15520412, PMID:18684116, PMID:20340139, PMID:22612257, PMID:23418007, PMID:23539563, PMID:25356970, PMID:25741868, PMID:26224725, PMID:28335910, PMID:28492532, PMID:30311386 NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
JBrowse link
autosomal recessive spinocerebellar ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25326637, PMID:28492532 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Fbxo5 F-box protein 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,461,277...42,467,646
Ensembl chr 1:42,461,291...42,467,586
JBrowse link
G Mtrf1l mitochondrial translational release factor 1-like ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,475,791...42,485,999
Ensembl chr 1:42,475,792...42,486,035
JBrowse link
G Myct1 myc target 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,121,572...42,132,131
Ensembl chr 1:42,121,636...42,131,547
JBrowse link
G Rgs17 regulator of G-protein signaling 17 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,491,566...42,587,735
Ensembl chr 1:42,492,761...42,587,721
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8
DNA:mutations:multiple:
ClinVar Annotator: match by OMIM:610743
OMIM
ClinVar
PMID:17159980, PMID:17503513, PMID:17761684, PMID:18414213, PMID:21572417, PMID:22287014, PMID:23325900, PMID:23352163, PMID:23959263, PMID:24033266, PMID:24123366, PMID:24123876, PMID:24892279, PMID:25133958, PMID:25214167, PMID:25401298, PMID:25741868, PMID:25843669, PMID:25976027, PMID:26467025, PMID:26539891, PMID:26770814, PMID:26870756, PMID:27066551, PMID:27086870, PMID:27197992, PMID:27305979, PMID:27782104, PMID:28017257, PMID:28074886, PMID:28178086, PMID:28492532, PMID:28687974, PMID:28750076, PMID:28798025, PMID:29482223, PMID:29625556, PMID:29961767, PMID:30029642, PMID:30275942, PMID:30311386, PMID:30564623, PMID:30573412, PMID:27086870 RGD:13209001 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Vip vasoactive intestinal peptide ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 ClinVar PMID:28492532 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa7 cytochrome c oxidase assembly factor 7 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 OMIM
ClinVar
PMID:27683825, PMID:29718187, PMID:30885959 NCBI chr 5:127,925,726...127,936,516
Ensembl chr 5:127,925,726...127,936,509
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:152,195,359...152,198,813
Ensembl chr 5:152,195,361...152,198,813
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
CTD
PMID:8944018, PMID:9685346, PMID:10490637, PMID:10502778, PMID:10644443, PMID:11301317, PMID:11487566, PMID:12612071, PMID:14623826, PMID:14630904, PMID:15378534, PMID:15728254, PMID:16498627, PMID:18045789, PMID:18723525, PMID:19052653, PMID:20881294, PMID:22569110, PMID:25741868, PMID:26220699, PMID:28492532, PMID:29100920 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
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
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
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam172a family with sequence similarity 172, member A ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:4,942,795...5,547,744
Ensembl chr 2:4,942,775...5,545,144
JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome
ClinVar Annotator: match by OMIM:615722
OMIM
ClinVar
PMID:10624948, PMID:11511537, PMID:14738874, PMID:18414213, PMID:19812316, PMID:20147377, PMID:23300014, PMID:24462372, PMID:24781210, PMID:25326637, PMID:25741868, PMID:25741869, PMID:25877686, PMID:26138355, PMID:26350515, PMID:26986877, PMID:28654857, PMID:28963436 NCBI chr 2:5,569,954...5,579,894
Ensembl chr 2:5,569,935...5,579,894
JBrowse link
G Pou5f2 POU domain class 5, transcription factor 2 ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:5,437,067...5,438,301
Ensembl chr 2:5,437,067...5,438,301
JBrowse link
G RGD1560883 similar to KIAA0825 protein ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:4,195,871...4,755,065
Ensembl chr 2:4,195,917...4,754,318
JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome
ClinVar Annotator: match by term: Boucher Neuhauser syndrome
ClinVar Annotator: match by OMIM:215470
OMIM
ClinVar
PMID:9321767, PMID:24355708, PMID:25033069, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
Brody myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Brody myopathy
ClinVar Annotator: match by OMIM:601003
ClinVar Annotator: match by null
ClinVar
OMIM
PMID:8841193, PMID:9367679, PMID:10914677, PMID:17882224, PMID:19763152, PMID:20307669, PMID:22406018, PMID:23757202, PMID:23911890, PMID:24033266, PMID:24707176, PMID:25614869, PMID:26248958, PMID:26467025, PMID:28492532, PMID:8841193 RGD:734618 NCBI chr 1:197,855,912...197,875,038 JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224, PMID:24707176, PMID:28492532 NCBI chr 1:197,908,087...197,920,400
Ensembl chr 1:197,908,094...197,919,560
JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar NCBI chr 1:197,839,583...197,855,953
Ensembl chr 1:197,839,430...197,856,312
JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224, PMID:24707176, PMID:28492532 NCBI chr 1:197,878,839...197,888,223
Ensembl chr 1:197,878,840...197,886,759
JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224, PMID:24707176, PMID:28492532 NCBI chr 1:197,903,582...197,907,189
Ensembl chr 1:197,903,582...197,907,189
JBrowse link
Canavan disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspa aspartoacylase susceptibility ISO
IAGP
ClinVar Annotator: match by term: Spongy degeneration of central nervous system
ClinVar Annotator: match by OMIM:271900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:7599639, PMID:7668285, PMID:8023850, PMID:8037206, PMID:8088831, PMID:8252036, PMID:8659549, PMID:9452117, PMID:9887384, PMID:10407784, PMID:10564886, PMID:10701101, PMID:10704428, PMID:10724099, PMID:10909858, PMID:11238686, PMID:12205125, PMID:12638939, PMID:14567959, PMID:15243987, PMID:16138249, PMID:16217711, PMID:16437572, PMID:16802711, PMID:16854607, PMID:17027983, PMID:17194761, PMID:17391648, PMID:17999961, PMID:18070137, PMID:18978679, PMID:19685155, PMID:20129749, PMID:20301412, PMID:21228398, PMID:21520333, PMID:21907889, PMID:22019069, PMID:22219087, PMID:22611636, PMID:22750302, PMID:22850825, PMID:22878930, PMID:23233226, PMID:23253610, PMID:23971085, PMID:24033266, PMID:25003821, PMID:25107638, PMID:25741868, PMID:26586007, PMID:26992473, PMID:27457812, PMID:27531131, PMID:27927234, PMID:28101991, PMID:28492532, PMID:8252036, PMID:15857674 RGD:1599291, RGD:1599298 NCBI chr10:59,839,693...59,888,244
Ensembl chr10:59,839,852...59,892,960
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:19739253 RGD:5686858 NCBI chr 8:61,532,465...61,567,510
Ensembl chr 8:61,532,465...61,567,510
JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
JBrowse link
G Emc6 ER membrane protein complex subunit 6 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr10:59,741,772...59,743,338
Ensembl chr10:59,741,772...59,743,315
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO protein:decreased expression:cerebellum, brain stem RGD PMID:15016427 RGD:6484588 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Haspin histone H3 associated protein kinase ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr10:59,695,403...59,698,398
Ensembl chr10:59,695,913...59,698,168
JBrowse link
G Itgae integrin subunit alpha E ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr10:59,652,324...59,711,885
Ensembl chr10:59,539,405...59,711,874
JBrowse link
G P2rx5 purinergic receptor P2X 5 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr10:59,725,438...59,737,126
Ensembl chr10:59,725,398...59,737,126
JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678
JBrowse link
G Sod2 superoxide dismutase 2 ISS OMIM:271900 MouseDO NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Canavan Disease
ClinVar Annotator: match by term: Spongy degeneration of central nervous system
ClinVar PMID:7599639, PMID:7668285, PMID:8023850, PMID:8037206, PMID:8088831, PMID:8252036, PMID:8659549, PMID:9452117, PMID:9887384, PMID:10407784, PMID:10564886, PMID:10701101, PMID:10704428, PMID:10724099, PMID:10909858, PMID:11238686, PMID:12205125, PMID:12638939, PMID:14567959, PMID:15243987, PMID:16138249, PMID:16217711, PMID:16437572, PMID:16802711, PMID:16854607, PMID:17027983, PMID:17194761, PMID:17391648, PMID:17999961, PMID:18070137, PMID:18978679, PMID:19685155, PMID:20129749, PMID:20301412, PMID:21228398, PMID:21520333, PMID:21907889, PMID:22019069, PMID:22219087, PMID:22611636, PMID:22750302, PMID:22850825, PMID:22878930, PMID:23233226, PMID:23253610, PMID:23971085, PMID:24033266, PMID:25003821, PMID:25107638, PMID:25741868, PMID:26586007, PMID:26992473, PMID:27457812, PMID:27531131, PMID:27927234, PMID:28101991, PMID:28492532 NCBI chr10:59,893,064...59,910,769
Ensembl chr10:59,879,850...59,911,051
JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr10:59,743,356...59,748,063
Ensembl chr10:59,743,544...59,748,062
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome
ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
ClinVar
OMIM
PMID:2842249, PMID:8496742, PMID:8733056, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:20576601, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24523486, PMID:24631656, PMID:24739246, PMID:24793181, PMID:24842602, PMID:24996492, PMID:25056583, PMID:25326637, PMID:25359261, PMID:25447930, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26453127, PMID:26633545, PMID:26993267, PMID:27091223, PMID:27268479, PMID:27634470, PMID:27726050, PMID:28293679, PMID:28441826, PMID:28492532, PMID:28500446, PMID:28708303, PMID:28849312, PMID:29066118, PMID:29184165, PMID:29305691, PMID:29397530, PMID:30071271, PMID:30311386, PMID:30657467, PMID:32581362, PMID:24468074 RGD:11576280 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia OMIM
ClinVar
PMID:8409271, PMID:25130867, PMID:25741868, PMID:28328135, PMID:28492532, PMID:30041933, PMID:30419932 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906
JBrowse link
Cayman type cerebellar ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atcay ATCAY kinesin light chain interacting caytaxin ISO ClinVar Annotator: match by term: Cerebellar ataxia, cayman type
ClinVar Annotator: match by term: Cerebellar ataxia, Cayman type
ClinVar Annotator: match by OMIM:601238
OMIM
ClinVar
PMID:14556008, PMID:28492532 NCBI chr 7:11,356,017...11,379,782
Ensembl chr 7:11,356,118...11,380,913
JBrowse link
cerebellar ataxia 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: Cerebellar ataxia ClinVar PMID:7581394, PMID:7668254, PMID:9425230, PMID:19129531, PMID:22280810, PMID:23566833, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:5,624,473...5,654,890
Ensembl chr 3:5,624,506...5,654,910
JBrowse link
G Aga aspartylglucosaminidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:41,222,225...41,234,169
Ensembl chr16:41,222,238...41,234,095
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9673985, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23607914, PMID:24022920, PMID:24232312, PMID:24843231, PMID:25741868, PMID:25891276, PMID:26467025, PMID:27708273, PMID:28492532, PMID:30311386 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:23680767, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Atcay ATCAY kinesin light chain interacting caytaxin susceptibility ISO RGD PMID:14556008 RGD:1599348 NCBI chr 7:11,356,017...11,379,782
Ensembl chr 7:11,356,118...11,380,913
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12810666, PMID:25741868, PMID:28492532 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:10544227, PMID:14962673, PMID:18483695, PMID:21454443, PMID:21682854, PMID:22484412, PMID:22494076, PMID:24253677, PMID:25741868, PMID:28392828, PMID:28492532, PMID:30311386 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Atxn1 ataxin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr17:19,160,986...19,533,814
Ensembl chr17:19,249,952...19,533,814
JBrowse link
G Atxn10 ataxin 10 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:126,228,416...126,351,728
Ensembl chr 7:126,228,295...126,351,634
JBrowse link
G Atxn7 ataxin 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr15:12,421,432...12,569,649
Ensembl chr15:12,425,175...12,513,931
JBrowse link
G B3glct beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16909395, PMID:18199743, PMID:18798333, PMID:19796186, PMID:20301637, PMID:23161355, PMID:23213277, PMID:23889335, PMID:25741868, PMID:26684045, PMID:28492532, PMID:30311386 NCBI chr12:6,403,118...6,476,010
Ensembl chr12:6,403,940...6,473,321
JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:17160889, PMID:23591405, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30614526 NCBI chr 2:124,048,513...124,057,026
Ensembl chr 2:124,054,282...124,056,795
JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
G Ca8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 5:21,249,018...21,345,810
Ensembl chr 5:21,249,020...21,345,810
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO
ISS
ClinVar Annotator: match by term: Cerebellar ataxia ClinVar
MouseDO
PMID:15173248, PMID:25741868, PMID:26467025, PMID:27066515, PMID:27400454, PMID:28492532 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848
JBrowse link
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:119,228,112...119,353,332
Ensembl chr 7:119,228,102...119,352,605
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1301198, PMID:2056790, PMID:6711564, PMID:7506602, PMID:7611293, PMID:7635485, PMID:7762555, PMID:8554066, PMID:8803779, PMID:8940271, PMID:9708897, PMID:9864922, PMID:10328723, PMID:10338090, PMID:10364517, PMID:10807759, PMID:11230183, PMID:11359213, PMID:11434706, PMID:12552044, PMID:14722927, PMID:15146473, PMID:16375773, PMID:17072863, PMID:17540596, PMID:18201569, PMID:18805305, PMID:19819175, PMID:20506325, PMID:20567906, PMID:22069143, PMID:22267502, PMID:23592311, PMID:24033266, PMID:25516723, PMID:25741868, PMID:26750749, PMID:28492532, PMID:28583326, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:124,905,811...125,028,011
Ensembl chr 6:124,905,808...125,027,553
JBrowse link
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 5:86,387,238...86,554,108
Ensembl chr 5:86,387,078...86,554,102
JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:32581362 NCBI chr 5:171,262,278...171,294,560
Ensembl chr 5:171,262,278...171,294,559
JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:130,404,818...130,408,813
Ensembl chr 7:130,404,832...130,408,187
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
JBrowse link
G Cog5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:50,953,868...51,230,860
Ensembl chr 6:50,954,631...51,230,701
JBrowse link
G Cog7 component of oligomeric golgi complex 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:191,889,332...191,948,977
Ensembl chr 1:191,857,556...191,948,977
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Dysmetria ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr17:29,006,981...29,438,906
Ensembl chr17:29,006,988...29,438,668
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:21705420, PMID:23623387, PMID:24033266, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Fmr1 FMRP translational regulator 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:11151421, PMID:28492532, PMID:30311386 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532, PMID:30311386 NCBI chr19:49,522,054...49,532,811
Ensembl chr19:49,522,054...49,532,811
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532 NCBI chr18:29,611,545...29,629,087
Ensembl chr18:29,611,547...29,629,087
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:3837850, PMID:8445615, PMID:11161796, PMID:16088929, PMID:25326635, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:28492532, PMID:30311386 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:32581362 NCBI chr10:57,309,722...57,322,140
Ensembl chr10:57,309,972...57,317,985
JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:137,162,593...137,180,198
Ensembl chr 6:137,164,535...137,177,622
JBrowse link
G Itch itchy E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:150,660,665...150,752,016
Ensembl chr 3:150,686,638...150,749,827
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:19289823, PMID:19420365, PMID:20651251, PMID:20807765, PMID:32581362 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr18:39,331,894...39,479,574
Ensembl chr18:39,335,377...39,479,257
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:32581362 NCBI chr10:57,322,259...57,352,395
Ensembl chr10:57,322,331...57,351,353
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr 6:92,016,560...92,057,643
Ensembl chr 6:92,016,622...92,057,816
JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 2:231,866,888...231,882,002
Ensembl chr 2:231,867,135...231,881,939
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1191367, PMID:8177735, PMID:10508514, PMID:10577905, PMID:10745042, PMID:10767337, PMID:10814718, PMID:10852707, PMID:10991688, PMID:11035019, PMID:11055878, PMID:11055898, PMID:11058114, PMID:11227330, PMID:11241840, PMID:11245712, PMID:11269512, PMID:11309679, PMID:11313756, PMID:11376998, PMID:11402105, PMID:11462237, PMID:11469283, PMID:11738866, PMID:11738879, PMID:11738885, PMID:11746022, PMID:11913567, PMID:11960578, PMID:12111643, PMID:12180070, PMID:12567420, PMID:12615169, PMID:12673788, PMID:12707946, PMID:12746406, PMID:12843318, PMID:12966523, PMID:14560307, PMID:15057977, PMID:15173251, PMID:15526954, PMID:15558314, PMID:15737703, PMID:16122633, PMID:16169931, PMID:16473305, PMID:16832102, PMID:17089071, PMID:17236109, PMID:17267601, PMID:17341617, PMID:17351020, PMID:17387578, PMID:17986102, PMID:18332345, PMID:18337588, PMID:18414213, PMID:18562141, PMID:19652677, PMID:19722030, PMID:20031356, PMID:20301670, PMID:21154482, PMID:21160487, PMID:21831886, PMID:21954873, PMID:21982064, PMID:22277191, PMID:22368975, PMID:23260135, PMID:23262346, PMID:23421866, PMID:23810759, PMID:24399845, PMID:24458799, PMID:25741868, PMID:26175308, PMID:26418480, PMID:26467025, PMID:26647311, PMID:27354166, PMID:27929079, PMID:28492532, PMID:30311386 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15064763, PMID:16043786, PMID:16835246, PMID:17296794, PMID:17959936, PMID:18316077, PMID:19812251, PMID:20008656, PMID:21508331, PMID:24957169, PMID:25741868, PMID:26467025, PMID:26801520, PMID:27100445, PMID:28492532, PMID:30311386 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:16652334, PMID:23851226, PMID:25741868 NCBI chr 7:129,949,984...129,970,314
Ensembl chr 7:129,949,967...129,970,550
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:1436530, PMID:1539598, PMID:1550128, PMID:2137962, PMID:8042671, PMID:8095070, PMID:8250532, PMID:8395787, PMID:9199572, PMID:9329425, PMID:9556461, PMID:9883875, PMID:10590437, PMID:10660580, PMID:10676807, PMID:10889120, PMID:11076946, PMID:11371515, PMID:11730668, PMID:11751691, PMID:11843698, PMID:11925565, PMID:14998933, PMID:17452590, PMID:19667215, PMID:24088041, PMID:24986921, PMID:25741868, PMID:26633545, PMID:32313153, PMID:32581362 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
JBrowse link
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 5:24,297,169...24,320,804
Ensembl chr 5:24,297,094...24,320,786
JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12477167, PMID:12566280, PMID:19158810, PMID:21840889, PMID:25448007, PMID:25552649, PMID:25741868, PMID:25741869, PMID:26645395, PMID:27206872, PMID:28492532, PMID:30311386 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:122,803,726...122,808,564
Ensembl chr 3:122,803,772...122,808,558
JBrowse link
G Nubpl nucleotide binding protein-like ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Otc ornithine carbamoyltransferase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
G Pde8b phosphodiesterase 8B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:9140401, PMID:9497260, PMID:9781039, PMID:10386614, PMID:10527672, PMID:10602363, PMID:10854097, PMID:10922383, PMID:11058895, PMID:11134235, PMID:11343337, PMID:11517108, PMID:11916319, PMID:15844218, PMID:17166182, PMID:19357119, PMID:20301289, PMID:21541725, PMID:24033266, PMID:24498599, PMID:25355454, PMID:25741868, PMID:26014514, PMID:26488408, PMID:26805780, PMID:28373276, PMID:28425223, PMID:28492532, PMID:28940310, PMID:30740725, PMID:32581362 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds: RGD PMID:20803511 RGD:8694192 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:12369018, PMID:16575835, PMID:17559086, PMID:18640039, PMID:18752264, PMID:19299310, PMID:22323514, PMID:23757202, PMID:24304607, PMID:24491487, PMID:25741868, PMID:26467025, PMID:28182637, PMID:28492532, PMID:30311386 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:64,407,098...64,433,698
Ensembl chr 1:64,407,114...64,433,636
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:27129381, PMID:28328138 NCBI chr10:74,002,151...74,012,182
Ensembl chr10:74,002,151...74,012,159
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr  X:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr10:46,511,271...46,571,591
Ensembl chr10:46,511,271...46,571,583
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr14:44,627,528...44,702,205
Ensembl chr14:44,580,216...44,702,203
JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Joubert Syndrome 7;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Rpl27a ribosomal protein L27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr 1:174,132,798...174,135,816
Ensembl chr 1:174,132,798...174,135,816
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia
CTD
ClinVar
PMID:16236810, PMID:25741868 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065 NCBI chr14:60,657,730...60,687,950
Ensembl chr14:60,657,686...60,687,958
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:26467025 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr16:74,318,287...74,408,030
Ensembl chr16:74,317,899...74,408,030
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919
JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:32,199,869...32,218,628
Ensembl chr 1:32,199,810...32,220,045
JBrowse link
G Snx14 sorting nexin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25848753 NCBI chr 8:96,018,943...96,088,405
Ensembl chr 8:96,023,445...96,088,405
JBrowse link
G Spart spartin ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25558065, PMID:25741868 NCBI chr 2:144,522,382...144,548,968
Ensembl chr 2:144,522,072...144,548,917
JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 1:219,964,429...220,006,811
Ensembl chr 1:219,964,429...220,005,068
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia
DNA:nonsense, missense mutations:introns,exons:
ClinVar PMID:26467025, PMID:28492532, PMID:30311386, PMID:17503513 RGD:13209009 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437
JBrowse link
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar NCBI chr17:42,229,667...42,241,025
Ensembl chr17:42,229,642...42,241,066
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:122,644,183...122,680,054
Ensembl chr 3:122,662,086...122,679,128
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:18953340, PMID:20937241, PMID:21815885, PMID:22433607, PMID:24485043, PMID:25741868, PMID:26550569, PMID:28492532, PMID:30311386 NCBI chr 5:2,019,852...2,037,038
Ensembl chr 5:2,019,852...2,037,038
JBrowse link
G Trip12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 9:92,305,059...92,435,388
Ensembl chr 9:92,305,051...92,435,365
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
G Vps13a vacuolar protein sorting 13 homolog A ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:30311386 NCBI chr 1:235,352,513...235,813,597
Ensembl chr 1:235,653,121...235,813,030
JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Cerebellar ataxia ClinVar PMID:17436253, PMID:29681091, PMID:30311386 NCBI chr  X:135,005,171...135,041,207
Ensembl chr  X:135,005,123...135,041,027
JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821, PMID:11431686, PMID:11571332, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:12975295, PMID:14557557, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16639411, PMID:16919951, PMID:16940310, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19189930, PMID:19251978, PMID:19307547, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19752458, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20601675, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20883824, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21550804, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22000311, PMID:22006280, PMID:22189570, PMID:22342071, PMID:22494076, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22863191, PMID:22931735, PMID:22987704, PMID:22995991, PMID:23084792, PMID:23212759, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23665194, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24288107, PMID:24331360, PMID:24508722, PMID:24725338, PMID:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25585994, PMID:25660390, PMID:25741868, PMID:25914719, PMID:25940035, PMID:26095671, PMID:26104464, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27538604, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28284481, PMID:28337550, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:29029963, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
cerebellar ataxia type 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 41 OMIM
ClinVar
PMID:25477146 NCBI chr 2:123,329,954...123,467,574
Ensembl chr 2:123,329,875...123,407,496
JBrowse link
cerebellar ataxia type 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 42 ClinVar
OMIM
PMID:25741868, PMID:26456284, PMID:26715324, PMID:28492532 NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848
JBrowse link
cerebellar ataxia type 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mme membrane metallo-endopeptidase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 43 ClinVar
OMIM
PMID:25741868, PMID:27583304 NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
JBrowse link
cerebellar ataxia type 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pum1 pumilio RNA-binding family member 1 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 47 ClinVar
OMIM
PMID:25741868, PMID:29474920 NCBI chr 5:148,781,239...148,911,776
Ensembl chr 5:148,781,222...148,911,803
JBrowse link
cerebellar ataxia type 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 48 ClinVar PMID:30381368 NCBI chr10:15,195,954...15,198,870
Ensembl chr10:15,195,969...15,198,868
JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 48 ClinVar
OMIM
PMID:30381368 NCBI chr10:15,197,754...15,200,035
Ensembl chr10:15,197,803...15,200,117
JBrowse link
cerebellar ataxia, mental retardation and dysequlibrium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8a2 ATPase phospholipid transporting 8A2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysequilibrium syndrome
CTD
ClinVar
PMID:25741868 NCBI chr15:39,955,689...40,488,737
Ensembl chr15:40,000,322...40,428,800
JBrowse link
G Ca8 carbonic anhydrase 8 ISS OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr 5:21,249,018...21,345,810
Ensembl chr 5:21,249,020...21,345,810
JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by OMIM:224050
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
ClinVar
CTD
PMID:18326629, PMID:18364738, PMID:25741868 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
JBrowse link
G Wdr81 WD repeat domain 81 ISS OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr10:62,273,817...62,287,213
Ensembl chr10:62,273,800...62,287,189
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
ClinVar
OMIM
PMID:11913577, PMID:16080122, PMID:18043714, PMID:18326629, PMID:18364738, PMID:18414213, PMID:22700954, PMID:22973972, PMID:25741868, PMID:28492532 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
ClinVar Annotator: match by OMIM:610185
OMIM
ClinVar
PMID:16371500, PMID:21885617, PMID:25558065, PMID:25741868, PMID:26437881, PMID:28097321, PMID:28492532, PMID:28969387 NCBI chr10:62,273,817...62,287,213
Ensembl chr10:62,273,800...62,287,189
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
ClinVar Annotator: match by OMIM:613227
OMIM
ClinVar
PMID:19461874, PMID:21937992, PMID:25741868 NCBI chr 5:21,249,018...21,345,810
Ensembl chr 5:21,249,020...21,345,810
JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8a2 ATPase phospholipid transporting 8A2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
ClinVar Annotator: match by OMIM:615268
OMIM
ClinVar
PMID:18326629, PMID:22892528, PMID:22912588, PMID:25590979, PMID:25741868, PMID:27679995, PMID:28454995 NCBI chr15:39,955,689...40,488,737
Ensembl chr15:40,000,322...40,428,800
JBrowse link
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elf2 E74 like ETS transcription factor 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar NCBI chr 2:140,310,374...140,399,312
Ensembl chr 2:140,310,375...140,387,505
JBrowse link
G Rfc1 replication factor C subunit 1 ISO OMIM NCBI chr14:44,627,528...44,702,205
Ensembl chr14:44,580,216...44,702,203
JBrowse link
Cerebellar Atrophy with Seizures and Variable Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY OMIM
ClinVar
PMID:24358150, PMID:28492532, PMID:29997391, PMID:30410802 NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Cyb561d2 cytochrome b561 family, member D2 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY ClinVar PMID:29997391, PMID:30410802 NCBI chr 8:116,295,328...116,297,879
Ensembl chr 8:116,295,329...116,297,858
JBrowse link
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES ClinVar
OMIM
PMID:27567911, PMID:29545233 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
ClinVar Annotator: match by term: EMC1-Related Disorder
ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation
ClinVar
OMIM
PMID:25741868, PMID:26942288, PMID:27657687, PMID:28492532 NCBI chr 5:157,820,908...157,846,226
Ensembl chr 5:157,820,908...157,846,226
JBrowse link
Cerebellar Hypoplasia with Endosteal Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Cerebellar hypoplasia with endosteal sclerosis ClinVar PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
JBrowse link
Cerebellofaciodental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: cerebellar-facial-dental syndrome
ClinVar Annotator: match by term: Cerebellofaciodental syndrome
ClinVar
OMIM
PMID:25561519, PMID:25741868 NCBI chr 6:137,762,230...137,808,573
Ensembl chr 6:137,765,122...137,808,303
JBrowse link
Cerebrooculofacioskeletal Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
Cerebrooculofacioskeletal Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 ClinVar PMID:24728327, PMID:25741868 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1
DNA:nonsense mutation
DNA:point mutation: :c.3862C>T (human)
ClinVar Annotator: match by OMIM:214150
OMIM
ClinVar
CTD
PMID:1372469, PMID:7063265, PMID:9443879, PMID:10739753, PMID:10767341, PMID:18414213, PMID:18628313, PMID:19894250, PMID:20456449, PMID:22661500, PMID:22904069, PMID:23422418, PMID:23428416, PMID:25136123, PMID:25741868, PMID:25820262, PMID:26204423, PMID:26749132, PMID:27004399, PMID:28492532, PMID:29572252, PMID:30311386, PMID:10739753, PMID:20456449 RGD:10401101, RGD:10401092 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:missense mutations:p.R616W, p.D681N (human)
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
ClinVar Annotator: match by OMIM:610756
ClinVar
OMIM
PMID:7585650, PMID:7920640, PMID:8571952, PMID:9101292, PMID:9238033, PMID:11156600, PMID:11443545, PMID:11710928, PMID:12820975, PMID:15494306, PMID:18470933, PMID:18603627, PMID:18628313, PMID:18637129, PMID:20944642, PMID:22826098, PMID:23221806, PMID:23232694, PMID:23800062, PMID:24033266, PMID:24252196, PMID:24448499, PMID:24728327, PMID:25620205, PMID:25716912, PMID:25741868, PMID:26556299, PMID:27004399, PMID:27745642, PMID:29478780, PMID:11443545 RGD:1601070 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
Cerebrooculofacioskeletal Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3 ClinVar
OMIM
PMID:8818951, PMID:11443545, PMID:17466625, PMID:24700531 NCBI chr 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
JBrowse link
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4
ClinVar Annotator: match by OMIM:610758
OMIM
ClinVar
PMID:17273966, PMID:23623389, PMID:25741868, PMID:28492532 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:80,267,725...80,271,001
Ensembl chr 1:80,267,725...80,271,001
JBrowse link
Charcot-Marie-Tooth disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 ClinVar PMID:20045102, PMID:22009580, PMID:23806086, PMID:24088041, PMID:24627108, PMID:25025039, PMID:25741868, PMID:25783436, PMID:25817015, PMID:25904691, PMID:26032230, PMID:26257172, PMID:26752306, PMID:27549087, PMID:28492532, PMID:29653220 NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25741868, 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 Arf1 ADP-ribosylation factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:12566280, PMID:24078732 NCBI chr10:45,562,700...45,579,214
Ensembl chr10:45,563,547...45,579,029
JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24627108, PMID:25025039, PMID:25164601, PMID:26558264 NCBI chr16:79,725,629...79,817,065
Ensembl chr16:79,725,643...79,793,619
JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:21194679, PMID:25741868 NCBI chr 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14985388, PMID:19153371, PMID:20170900, PMID:22210628, PMID:28119449, PMID:28492532 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19085932, PMID:20605452, PMID:21361913, PMID:21676617, PMID:21898660, PMID:22734908, PMID:25208129, PMID:25273835, PMID:25326635, PMID:25728519, PMID:25741868, PMID:26545904, PMID:27321750, PMID:27443559, PMID:28492532 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25802885, PMID:28492532 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:23142943, PMID:28492532 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:14517542, PMID:15322984, PMID:16194727 NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15326253, PMID:18812314, PMID:19506225, PMID:23143281, PMID:24604904, PMID:24627108, PMID:25025039, PMID:25741868, PMID:28492532 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Dctn2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:26517670 NCBI chr 7:70,555,953...70,571,433
Ensembl chr 7:70,556,019...70,572,614
JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:22522442, PMID:24627108, PMID:25274842, PMID:25741868, PMID:27083531, PMID:28492532 NCBI chr 9:82,436,453...82,444,669
Ensembl chr 9:82,436,458...82,444,668
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15731758, PMID:16227997, PMID:17636067, PMID:18394888, PMID:18414213, PMID:20529869, PMID:20817456, PMID:21762456, PMID:22091729, PMID:22613877, PMID:24016602, PMID:25025039, PMID:25492887, PMID:25501959, PMID:27328317, PMID:28492532, PMID:28676641 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:7898717, PMID:10210919, PMID:21532572, PMID:23365052, PMID:23521649, PMID:24727570, PMID:25326637 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:18414213, PMID:21820100, PMID:22847149, PMID:24033266, PMID:24136616, PMID:25025039, PMID:25741868, PMID:26344056, PMID:26378787, PMID:26467025, PMID:28492532 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:10369870, PMID:10371530, PMID:10502832, PMID:10762521, PMID:11239949, PMID:11523566, PMID:11545686, PMID:12471219, PMID:12609493, PMID:15241803, PMID:15947997, PMID:16198564, PMID:17717711, PMID:20513111, PMID:21149811, PMID:22271166, PMID:22546699, PMID:22734907, PMID:22765307, PMID:25720245, PMID:25741868, PMID:26467025, PMID:27159987, PMID:28492532 NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
JBrowse link
G Elp1 elongator complex protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9536098, PMID:10090896, PMID:11179008, PMID:11179021, PMID:12116234, PMID:12687659, PMID:16964593, PMID:17206408, PMID:20301359, PMID:22190446, PMID:22850346, PMID:23515154, PMID:24033266, PMID:25741868, PMID:27065010, PMID:28492532 NCBI chr 5:73,503,406...73,552,798
Ensembl chr 5:73,503,407...73,552,798
JBrowse link
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:28492532 NCBI chr18:57,827,391...57,874,515
Ensembl chr18:57,827,392...57,866,741
JBrowse link
G Fgd4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:15744041, PMID:17564959, PMID:17564972, PMID:19332693, PMID:22734899, PMID:23466821, PMID:23550889, PMID:24078732, PMID:25231362, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr11:88,699,222...88,796,677
Ensembl chr11:88,699,222...88,796,677
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
CTD
ClinVar
PMID:17572665, PMID:19118816, PMID:21705420, PMID:23336365, PMID:23623387, PMID:24033266, PMID:24878229, PMID:25614874, PMID:25741868, PMID:26467025, PMID:28051077, PMID:28492532, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24627108, PMID:25025039, PMID:28492532 NCBI chr19:49,692,790...49,746,178
Ensembl chr19:49,695,579...49,741,965
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:8541851, PMID:8872480, PMID:9879677, PMID:10732809, PMID:12690580, PMID:16014653, PMID:16534118, PMID:17035524, PMID:17101916, PMID:17544401, PMID:17595294, PMID:17663003, PMID:19329989, PMID:21737751, PMID:23279345, PMID:24078732, PMID:24088041, PMID:24604904, PMID:24669931, PMID:25168514, PMID:25420567, PMID:25476837, PMID:25614874, PMID:25741868, PMID:26138142, PMID:26244500, PMID:26467025, PMID:26503042, PMID:26517670, PMID:26633545, PMID:26752306, PMID:27008886, PMID:27582484, PMID:28492532, PMID:28594869, PMID:30311386 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO DNA:nonsense mutation, deletion, missense mutation:exons:p.S194X, c.786delg, p.G262fsX284 (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar PMID:11743580, PMID:12499475, PMID:12566285, PMID:12601710, PMID:12821518, PMID:12843336, PMID:12868504, PMID:14561495, PMID:15019704, PMID:15192818, PMID:15377708, PMID:15469949, PMID:15805163, PMID:15944907, PMID:16172208, PMID:16343542, PMID:17001820, PMID:17039978, PMID:17433678, PMID:18021315, PMID:18062449, PMID:18231710, PMID:18421898, PMID:18492089, PMID:18504680, PMID:18991200, PMID:19500985, PMID:19782751, PMID:20232219, PMID:20685671, PMID:20849849, PMID:21199105, PMID:21322820, PMID:21326314, PMID:21365284, PMID:21692914, PMID:21753178, PMID:21890626, PMID:21965300, PMID:22206013, PMID:22730194, PMID:22971097, PMID:23456260, PMID:23466821, PMID:23628762, PMID:23963299, PMID:24078732, PMID:24627108, PMID:25231362, PMID:25337607, PMID:25429913, PMID:25614874, PMID:25741868, PMID:26467025, PMID:26525999, PMID:28220846, PMID:28244113, PMID:28492532, PMID:28495047, PMID:28751717, PMID:29372391, PMID:30311386, PMID:12499475, PMID:24480485 RGD:1358634, RGD:12738398 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1211842, PMID:7477983, PMID:7580242, PMID:7833935, PMID:7946361, PMID:8004109, PMID:8162049, PMID:8266101, PMID:8628473, PMID:8698335, PMID:8737658, PMID:8800924, PMID:8816997, PMID:8829637, PMID:8990008, PMID:9018031, PMID:9099841, PMID:9187667, PMID:9272161, PMID:9328258, PMID:9354338, PMID:9361298, PMID:9364054, PMID:9401007, PMID:9452025, PMID:9452099, PMID:9469569, PMID:9469571, PMID:9541114, PMID:9592087, PMID:9600589, PMID:9633821, PMID:9818870, PMID:9854984, PMID:9856562, PMID:9888385, PMID:10093067, PMID:10102421, PMID:10207904, PMID:10220155, PMID:10234007, PMID:10487913, PMID:10521546, PMID:10586227, PMID:10586261, PMID:10586284, PMID:10586291, PMID:10587015, PMID:10639608, PMID:10646523, PMID:10732813, PMID:10737979, PMID:10848620, PMID:10873293, PMID:10894999, PMID:10923043, PMID:10938190, PMID:11030070, PMID:11085599, PMID:11140841, PMID:11180613, PMID:11252295, PMID:11257785, PMID:11271367, PMID:11325342, PMID:11393532, PMID:11404117, PMID:11437164, PMID:11438991, PMID:11545686, PMID:11562788, PMID:11571214, PMID:11723288, PMID:11835375, PMID:11891346, PMID:12111842, PMID:12185164, PMID:12207932, PMID:12325071, PMID:12362307, PMID:12402337, PMID:12460545, PMID:12477701, PMID:12497641, PMID:12536289, PMID:12542510, PMID:12614935, PMID:12707076, PMID:14607795, PMID:14627639, PMID:14663027, PMID:14960772, PMID:14991359, PMID:15006706, PMID:15241803, PMID:15468313, PMID:15574129, PMID:15719046, PMID:15852376, PMID:16096811, PMID:16401743, PMID:16476939, PMID:16688595, PMID:16912585, PMID:16922730, PMID:17100997, PMID:17297706, PMID:17353473, PMID:17620124, PMID:17646144, PMID:17714866, PMID:18254389, PMID:18379723, PMID:18380022, PMID:18380028, PMID:18636082, PMID:18717720, PMID:18846639, PMID:19062535, PMID:19259128, PMID:19369543, PMID:19448103, PMID:19691535, PMID:20039784, PMID:20128140, PMID:20193560, PMID:20435583, PMID:20491857, PMID:20593665, PMID:20857133, PMID:20942588, PMID:21104867, PMID:21149811, PMID:21254193, PMID:21280457, PMID:21282593, PMID:21291455, PMID:21300330, PMID:21309765, PMID:21326314, PMID:21607969, PMID:21692908, PMID:21922480, PMID:22159091, PMID:22243284, PMID:22464564, PMID:22771394, PMID:22820753, PMID:22944031, PMID:23011429, PMID:23106488, PMID:23209285, PMID:23232577, PMID:23279342, PMID:23384994, PMID:23649551, PMID:23773993, PMID:23838279, PMID:24053775, PMID:24078732, PMID:24170412, PMID:24444136, PMID:24627108, PMID:24768312, PMID:24958582, PMID:25025039, PMID:25043634, PMID:25086786, PMID:25388846, PMID:25429913, PMID:25595958, PMID:25614874, PMID:25741868, PMID:25802885, PMID:25883816, PMID:25947624, PMID:25969535, PMID:26385972, PMID:26454100, PMID:26467025, PMID:27025386, PMID:27027447, PMID:27088055, PMID:27098783, PMID:27367520, PMID:27544631, PMID:27549087, PMID:27804109, PMID:27812541, PMID:27844031, PMID:27862672, PMID:28071741, PMID:28097225, PMID:28448691, PMID:28469099, PMID:28492532, PMID:28768847, PMID:31211173, PMID:224645664 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Gstt2 glutathione S-transferase, theta 2 severity IEP
ISO
RGD PMID:22189569, PMID:22189569 RGD:9686084, RGD:9686084 NCBI chr20:13,760,810...13,764,481
Ensembl chr20:13,760,810...13,764,475
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:24314034 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:22961002, PMID:24105373, PMID:25342199, PMID:28492532, PMID:29787766 NCBI chr10:40,208,236...40,211,981
Ensembl chr10:40,208,223...40,211,975
JBrowse link
G Hoxd10 homeo box D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146389 NCBI chr 3:61,614,133...61,617,342
Ensembl chr 3:61,613,774...61,617,367
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:11528513, PMID:15122254, PMID:16215937, PMID:17623484, PMID:17881652, PMID:18325928, PMID:18344398, PMID:18832141, PMID:18952241, PMID:19435728, PMID:20178975, PMID:20660910, PMID:20870250, PMID:21149811, PMID:21611841, PMID:21892769, PMID:21983720, PMID:22031878, PMID:22176143, PMID:22206013, PMID:22521462, PMID:22734906, PMID:23643870, PMID:23728742, PMID:23948568, PMID:23963299, PMID:25025039, PMID:25088881, PMID:25220807, PMID:25429913, PMID:25547330, PMID:25614874, PMID:25741868, PMID:25965061, PMID:26467025, PMID:26675522, PMID:26986878, PMID:26989944, PMID:27816334, PMID:27830184, PMID:27862672, PMID:28000086, PMID:28144995, PMID:28379183, PMID:28492532, PMID:28595321, PMID:28702508, PMID:28797631, PMID:29381233, PMID:30311386 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
JBrowse link
G Hspb8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1517763, PMID:15021985, PMID:15122253, PMID:15565283, PMID:20538880, PMID:21985219, PMID:23796487, PMID:26718575, PMID:28251916, PMID:28492532 NCBI chr12:45,905,371...45,920,014
Ensembl chr12:45,905,371...45,920,013
JBrowse link
G Ifrd1 interferon-related developmental regulator 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:19409521 NCBI chr 6:60,132,025...60,151,354
Ensembl chr 6:60,132,024...60,151,420
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:234316, PMID:11528396, PMID:14506069, PMID:14681881, PMID:15108294, PMID:15248100, PMID:15599641, PMID:15797190, PMID:16765827, PMID:16964485, PMID:17431882, PMID:18802676, PMID:19157874, PMID:19158098, PMID:20031928, PMID:21353777, PMID:21902652, PMID:22157136, PMID:22791546, PMID:23449687, PMID:23566544, PMID:23806086, PMID:24022109, PMID:24033266, PMID:24088041, PMID:25326635, PMID:25439726, PMID:25568292, PMID:25741868, PMID:26136520, PMID:26257172, PMID:26392352, PMID:26467025, PMID:26922252, PMID:27450922, PMID:28251916, PMID:28492532, PMID:29858556, PMID:30311386 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20023659, PMID:20803156, PMID:21258034, PMID:22187985, PMID:22961558, PMID:23515051, PMID:23521651, PMID:24174593, PMID:24750328, PMID:25165188, PMID:25407002, PMID:25676889, PMID:25741868, PMID:26467025, PMID:27350175, PMID:28492532 NCBI chr 6:137,162,593...137,180,198
Ensembl chr 6:137,164,535...137,177,622
JBrowse link
G Kars lysyl-tRNA synthetase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:20920668 NCBI chr19:44,212,205...44,231,209
Ensembl chr19:44,212,206...44,231,157
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:9409358, PMID:11389829, PMID:18334619, PMID:24033266, PMID:24469107, PMID:25025039, PMID:25741868, PMID:28492532, PMID:29590070, PMID:30311386 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25648254 NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:1407588, PMID:1678513, PMID:2239969, PMID:12525712, PMID:15122712, PMID:15776420, PMID:15776429, PMID:15786462, PMID:16373087, PMID:16787513, PMID:19541485, PMID:23319192, PMID:23576546, PMID:24604904, PMID:24844793, PMID:24880540, PMID:25058650, PMID:25342198, PMID:25741868, PMID:26392352, PMID:26467025, PMID:27549087, PMID:28211240, PMID:28492532 NCBI chr10:4,753,546...4,763,272
Ensembl chr10:4,719,713...4,763,510
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:2526018, PMID:8621584, PMID:10080180, PMID:10587585, PMID:10655060, PMID:10739751, PMID:10999791, PMID:10999845, PMID:11015599, PMID:11102973, PMID:11180602, PMID:11344241, PMID:11503164, PMID:11792811, PMID:11799477, PMID:12057196, PMID:12075506, PMID:12376891, PMID:12467734, PMID:12467752, PMID:12702809, PMID:12768443, PMID:12788894, PMID:12920062, PMID:12927431, PMID:14597414, PMID:14607793, PMID:14615128, PMID:14627682, PMID:14684700, PMID:14985400, PMID:15060110, PMID:15140538, PMID:15205219, PMID:15372542, PMID:15475483, PMID:15531479, PMID:15770669, PMID:15965218, PMID:15998779, PMID:16084085, PMID:16174718, PMID:16585054, PMID:16772334, PMID:17107595, PMID:17250669, PMID:17250699, PMID:17347251, PMID:17377071, PMID:17536044, PMID:17711925, PMID:17848409, PMID:18348272, PMID:18414213, PMID:18478590, PMID:18549403, PMID:18604166, PMID:18714801, PMID:18795223, PMID:18796515, PMID:18926329, PMID:19084400, PMID:19220582, PMID:19318026, PMID:19418082, PMID:19424285, PMID:19432833, PMID:19524666, PMID:19589617, PMID:19622949, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19842191, PMID:19859838, PMID:19875404, PMID:20130076, PMID:20160190, PMID:20497714, PMID:20625965, PMID:20627339, PMID:20662858, PMID:20848652, PMID:20980393, PMID:21520333, PMID:21535365, PMID:21831885, PMID:21883346, PMID:21980471, PMID:22071332, PMID:22177269, PMID:22199124, PMID:22224630, PMID:22276265, PMID:22331516, PMID:22355414, PMID:22526018, PMID:22570643, PMID:23062543, PMID:23349452, PMID:23497705, PMID:23804595, PMID:23853504, PMID:23861362, PMID:23977161, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24375749, PMID:24503780, PMID:24623722, PMID:24721642, PMID:24794538, PMID:25025039, PMID:25049529, PMID:25163546, PMID:25214167, PMID:25286833, PMID:25324471, PMID:25351510, PMID:25367549, PMID:25448463, PMID:25524705, PMID:25525159, PMID:25617006, PMID:25637381, PMID:25741868, PMID:25823658, PMID:25873806, PMID:25885670, PMID:25982065, PMID:26467025, PMID:26498160, PMID:26602028, PMID:26662654, PMID:27000522, PMID:27153395, PMID:27199538, PMID:27447704, PMID:27532257, PMID:27650965, PMID:27723096, PMID:27841971, PMID:27884249, PMID:27896052, PMID:27896284, PMID:28087566, PMID:28416588, PMID:28492532, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28701371, PMID:28785654, PMID:28790152, PMID:28807990, PMID:29078011, PMID:29943882, PMID:30137533, PMID:30311386, PMID:30402260, PMID:30420677, PMID:30488537, PMID:30765282, PMID:30901896 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:20865121, PMID:22012984, PMID:22781092, PMID:24894446, PMID:25741868, PMID:26752306, PMID:28286897, PMID:28335037, PMID:28492532 NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
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G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:23729695, PMID:24103465, PMID:24354524, PMID:25741868, PMID:25913036, PMID:28492532, PMID:31356216 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310
JBrowse link
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease ClinVar PMID:25488817, PMID:25741868, PMID:26257172, PMID:28492532, PMID:30039206 NCBI chr 1:100,872,240...100,887,864
Ensembl chr 1:100,874,976...100,887,853
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar PMID:8406488, PMID:9409358, PMID:10732809, PMID:11148244, PMID:11181170, PMID:12601114, PMID:15064763, PMID:15549395, PMID:16043786, PMID:16087932, PMID:16437557, PMID:16714318, PMID:16762064, PMID:16835246, PMID:16930284, PMID:17215403, PMID:17296794, PMID:17309650, PMID:17437620, PMID:17444508, PMID:17502546, PMID:17959936, PMID:18316077, PMID:18425620, PMID:18458227, PMID:18602827, PMID:18946002, PMID:18957892, PMID:18996695, PMID:19350291, PMID:19812251, PMID:19889647, PMID:19909486, PMID:20008656, PMID:20193559, PMID:20301684, PMID:20335458, PMID:20350294, PMID:20418531, PMID:20482598, PMID:20530328, PMID:20587496, PMID:20951041, PMID:21149811, PMID:21258814, PMID:21285398, PMID:21326314, PMID:21508331, PMID:21519004, PMID:21531138, PMID:21576112, PMID:21707411, PMID:21715711, PMID:21772703, PMID:21840889, PMID:21892769, PMID:22206013, PMID:22442078, PMID:22492563, PMID:22494076, PMID:22653593, PMID:22762946, PMID:22851605, PMID:22926664, PMID:22957060, PMID:23456260, PMID:23615052, PMID:23806086, PMID:23929728, PMID:24018473, PMID:24033266, PMID:24050734, PMID:24053775, PMID:24078732, PMID:24088041, PMID:24126688, PMID:24444136, PMID:24450158, PMID:24473995, PMID:24487800, PMID:24530046, PMID:24604904, PMID:24627108, PMID:24803844, PMID:24819634, PMID:24862862, PMID:24863639, PMID:24957169, PMID:25025039, PMID:25403865, PMID:25448007, PMID:25614874, PMID:25741868, PMID:25802885, PMID:25957633, PMID:26085578, PMID:26114802, PMID:26143526, PMID:26230519, PMID:26257172, PMID:26306937, PMID:26307494, PMID:26316991, PMID:26378787, PMID:26382835, PMID:26392352, PMID:26467025, PMID:26633545, PMID:26686600, PMID:26752306, PMID:26801520, PMID:26916081, PMID:26930221, PMID:26955893, PMID:26968897, PMID:26989944, PMID:27025386, PMID:27027447, PMID:27088055, PMID:27265096, PMID:27549087, PMID:27582484, PMID:27862672, PMID:27863451, PMID:28063088, PMID:28215760, PMID:28251916, PMID:28286897, PMID:28414270, PMID:28492532, PMID:28660751, PMID:29341354, PMID:29358271, PMID:29361379, PMID:29473246, PMID:29898954, PMID:30158064, PMID:30311386, PMID:30882371, PMID:31188717, PMID:198122151 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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G Morc2 MORC family CW-type zinc finger 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
CTD
ClinVar
PMID:7964809, PMID:12601114, PMID:26497905, PMID:26659848, PMID:26912637, PMID:27105897, PMID:27105987, PMID:27329773, PMID:27794525, PMID:28334961, PMID:28402445, PMID:28492532, PMID:28581500, PMID:28771897 NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
ClinVar Annotator: match by term: Hereditary areflexic dystasia
ClinVar Annotator: match by term: Peroneal muscular atrophy
ClinVar Annotator: match by term: Roussy-Levy Syndrome
ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IB
ClinVar Annotator: match by OMIM:180800
ClinVar Annotator: match by OMIM:118200
ClinVar
OMIM
PMID:7504284, PMID:7505151, PMID:7506095, PMID:7511317, PMID:7527371, PMID:7530774, PMID:7550231, PMID:7688964, PMID:7693129, PMID:7693130, PMID:7694726, PMID:8644725, PMID:8664899, PMID:8797476, PMID:8800924, PMID:8816708