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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:neuromuscular disease
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Accession:DOID:440 term browser browse the term
Definition:A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.
Synonyms:exact_synonym: NEUROMUSCULAR DISORDER;   neuromuscular diseases
 narrow_synonym: Amyotonia Congenita;   Benign Fasciculation-Cramp Syndrome;   Benign Fasciculation-Cramp Syndromes;   Cramp Fasciculation Syndrome;   Cramp-Fasciculation Syndromes;   Foley Denny Brown Syndrome;   Oppenheim Disease;   Oppenheim's Disease;   Oppenheims Disease
 primary_id: MESH:D009468
 alt_id: RDO:0001720
 xref: ICD10CM:G70.9;   ICD9CM:358;   OMIM:PS605253
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
neuromuscular disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas achalasia, adrenocortical insufficiency, alacrimia ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:1537368, PMID:6243664, PMID:11159947, PMID:12752575, PMID:16098009, PMID:18628786, PMID:25741868, PMID:26622478, PMID:30311386 NCBI chr15:102,338,247...102,350,759
Ensembl chr15:102,338,252...102,350,771
JBrowse link
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Neuromuscular Diseases ClinVar PMID:12921789, PMID:15226407, PMID:17227580, PMID:19562689, PMID:24033266, PMID:25470062, PMID:25525159, PMID:28492532 NCBI chr 8:123,891,758...123,894,775
Ensembl chr 8:123,891,769...123,894,751
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:19623537, PMID:19932619, PMID:24465259, PMID:26199319, PMID:28492532, PMID:30311386 NCBI chr 9:21,424,908...21,507,759
Ensembl chr 9:21,424,908...21,507,759
JBrowse link
G Dnmt1 DNA methyltransferase (cytosine-5) 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 9:20,907,206...20,959,888
Ensembl chr 9:20,907,209...20,959,888
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Neuromuscular Diseases ClinVar PMID:1178008, PMID:1998333, PMID:7294729, PMID:8595407, PMID:10382909, PMID:10428430, PMID:18646565, PMID:24033266 NCBI chr  X:74,254,674...74,261,563
Ensembl chr  X:74,261,032...74,261,374
Ensembl chr  X:74,261,032...74,261,374
JBrowse link
G Gbe1 glucan (1,4-alpha-), branching enzyme 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:25133958, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:70,313,949...70,569,720
Ensembl chr16:70,313,949...70,569,716
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:101,376,376...101,385,629
Ensembl chr  X:101,376,378...101,385,629
JBrowse link
G Gpi1 glucose-6-phosphate isomerase 1 ISO Severe GPI deficiency with neurologic deficits RGD PMID:9856489 RGD:1600632 NCBI chr 7:34,201,327...34,230,336
Ensembl chr 7:34,201,330...34,230,336
JBrowse link
G Lama2 laminin, alpha 2 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:9829280, PMID:20207543, PMID:24611677, PMID:25214167, PMID:25525159, PMID:28492532, PMID:30311386 NCBI chr10:26,981,285...27,617,191
Ensembl chr10:26,980,036...27,619,758
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Neuromuscular Diseases ClinVar PMID:15668942, PMID:17337483, PMID:18765652, PMID:19377068, PMID:24033266, PMID:24647531, PMID:24668811, PMID:25208129, PMID:25741868, PMID:26467025, PMID:27618136, PMID:28349680, PMID:28492532 NCBI chr14:34,526,699...34,590,314
Ensembl chr14:34,526,603...34,588,682
JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: Neuromuscular disease ClinVar PMID:15678000, PMID:17377071, PMID:18585512, PMID:18926329, PMID:19446900, PMID:24033266, PMID:24503780, PMID:24915601, PMID:27506821, PMID:28492532, PMID:28679633, PMID:28798025, PMID:30311386 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:7527371, PMID:9187667, PMID:9633821, PMID:10093067, PMID:10965800, PMID:11437164, PMID:11835375, PMID:12497641, PMID:12707985, PMID:18347322, PMID:18422810, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 1:171,150,713...171,161,130
Ensembl chr 1:171,150,711...171,161,130
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: Neuromuscular disease ClinVar PMID:28027978, PMID:31965079 NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G Plp1 proteolipid protein (myelin) 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:30311386 NCBI chr  X:136,820,148...136,838,582
Ensembl chr  X:136,822,671...136,839,733
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:1523566, PMID:3467805, PMID:7728152, PMID:8275092, PMID:9004143, PMID:9543325, PMID:10211478, PMID:10369870, PMID:11523566, PMID:11835375, PMID:12439896, PMID:18592125, PMID:18698610, PMID:21840889, PMID:23224996, PMID:23781966, PMID:24534835, PMID:24646194, PMID:24668782, PMID:24726093, PMID:26076881, PMID:28492532, PMID:30311386 NCBI chr11:63,128,982...63,159,547
Ensembl chr11:63,128,982...63,159,547
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:11571332, PMID:15477547, PMID:15689359, PMID:15824347, PMID:15929042, PMID:16080118, PMID:16177225, PMID:16545482, PMID:16621917, PMID:16638794, PMID:16639411, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17894835, PMID:18294203, PMID:18321754, PMID:18487244, PMID:18546343, PMID:18546365, PMID:18828154, PMID:18991199, PMID:19103152, PMID:19125351, PMID:19251978, PMID:19566497, PMID:19578034, PMID:19752458, PMID:20142534, PMID:20153822, PMID:20438629, PMID:20691285, PMID:20818383, PMID:21236670, PMID:21357833, PMID:21455106, PMID:21515089, PMID:21880868, PMID:21956653, PMID:21993618, PMID:22166854, PMID:22189570, PMID:22616202, PMID:22711370, PMID:22931735, PMID:23212759, PMID:23248042, PMID:23448099, PMID:23804100, PMID:23808377, PMID:24033266, PMID:24122062, PMID:24725338, PMID:24841123, PMID:25025039, PMID:25281868, PMID:25585994, PMID:25713120, PMID:25741868, PMID:26077851, PMID:26104464, PMID:26467025, PMID:26607151, PMID:26755490, PMID:26942291, PMID:27290639, PMID:27345795, PMID:27422324, PMID:27822509, PMID:27838477, PMID:28130605, PMID:28206745, PMID:28471437, PMID:28480171, PMID:28492532, PMID:28634151, PMID:28812649, PMID:28837072, PMID:28865037, PMID:29272804, PMID:29358615, PMID:29423831, PMID:29474836, PMID:29574624, PMID:29712893, PMID:29920680, PMID:30021052, PMID:30311386 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:15466003, PMID:17906881, PMID:19299310, PMID:22323514, PMID:22554691, PMID:25741868, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386 NCBI chr 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:30311386 NCBI chr  X:136,858,147...136,868,556
Ensembl chr  X:136,858,147...136,868,755
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Neuromuscular disease
ClinVar Annotator: match by term: Neuromuscular disorder
ClinVar Annotator: match by term: Neuromuscular Diseases
ClinVar PMID:16084090, PMID:17033962, PMID:17483490, PMID:18253926, PMID:18414213, PMID:19191329, PMID:19645060, PMID:20080402, PMID:20583297, PMID:20839240, PMID:21062345, PMID:21455645, PMID:21911697, PMID:22473935, PMID:23394784, PMID:23553484, PMID:23553787, PMID:23919265, PMID:24033266, PMID:24088041, PMID:24091937, PMID:24195946, PMID:24627108, PMID:24951453, PMID:25476234, PMID:25637381, PMID:25741868, PMID:26633545, PMID:27854218, PMID:28492532, PMID:28818389, PMID:30311386, PMID:31680349 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
JBrowse link
G Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:9192266, PMID:12075495, PMID:16778590, PMID:18285821, PMID:19798725, PMID:22095924, PMID:25214167, PMID:26916285, PMID:28403181, PMID:28492532, PMID:30311386 NCBI chr11:94,962,777...94,976,327
Ensembl chr11:94,962,791...94,976,327
JBrowse link
G Sgcd sarcoglycan, delta (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Neuromuscular Diseases ClinVar PMID:24033266 NCBI chr11:46,971,077...47,989,451
Ensembl chr11:46,896,253...47,988,969
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:25741868, PMID:30311386 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr 6:124,810,586...124,814,158
Ensembl chr 6:124,810,586...124,814,296
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Neuromuscular Diseases
ClinVar Annotator: match by term: Neuromuscular disease
ClinVar PMID:956253, PMID:1520078, PMID:4056805, PMID:8179305, PMID:11891693, PMID:14755468, PMID:15668982, PMID:18587396, PMID:19232556, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21573172, PMID:21964574, PMID:22065612, PMID:22419508, PMID:22675077, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24319099, PMID:24575025, PMID:24577120, PMID:24677493, PMID:24789864, PMID:24963089, PMID:25256292, PMID:25703509, PMID:25741868, PMID:25900305, PMID:26110311, PMID:26249260, PMID:26467025, PMID:26948711, PMID:27330106, PMID:27549087, PMID:27751652, PMID:28492532, PMID:28898540, PMID:30311386 NCBI chr 5:114,622,152...114,658,435
Ensembl chr 5:114,622,152...114,658,421
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:15466003, PMID:17906881, PMID:19299310, PMID:22323514, PMID:22554691, PMID:25741868, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386 NCBI chr 4:116,161,881...116,167,621
Ensembl chr 4:116,161,869...116,167,601
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Neuromuscular disease ClinVar PMID:22335739, PMID:23975875, PMID:24033266, PMID:25589632, PMID:26701604, PMID:28492532, PMID:29691892, PMID:31053406 NCBI chr 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
JBrowse link
G Xk X-linked Kx blood group ISO CTD Direct Evidence: marker/mechanism CTD PMID:8004674, PMID:8619554 NCBI chr  X:9,272,784...9,313,245
Ensembl chr  X:9,272,756...9,313,250
JBrowse link
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) ISO ClinVar Annotator: match by term: 3 Methylcrotonyl-CoA carboxylase 1 deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by OMIM:210200
OMIM
ClinVar
PMID:9187484, PMID:10485305, PMID:11170888, PMID:11181649, PMID:11406611, PMID:14680978, PMID:15359379, PMID:15868465, PMID:16010683, PMID:16835865, PMID:17968484, PMID:19339287, PMID:21071250, PMID:22150417, PMID:22264772, PMID:22642865, PMID:24033266, PMID:24078573, PMID:25356967, PMID:25382614, PMID:25741868, PMID:26566957, PMID:27577216, PMID:27601257, PMID:28492532 NCBI chr 3:35,956,292...36,000,694
Ensembl chr 3:35,959,312...36,000,678
JBrowse link
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc2 methylcrotonoyl-Coenzyme A carboxylase 2 (beta) ISO ClinVar Annotator: match by term: 3-methylcrotonyl CoA carboxylase 2 deficiency
ClinVar Annotator: match by OMIM:210210
OMIM
ClinVar
PMID:1293382, PMID:7128647, PMID:8598650, PMID:9544913, PMID:11170888, PMID:11181649, PMID:11406611, PMID:14680978, PMID:15877210, PMID:16010683, PMID:16835865, PMID:17908719, PMID:17968484, PMID:20818363, PMID:20818383, PMID:21071250, PMID:22030835, PMID:22150417, PMID:22264772, PMID:22642865, PMID:25087612, PMID:25356967, PMID:25741868, PMID:26566957, PMID:26764160, PMID:27033733, PMID:27601257, PMID:28018443, PMID:28492532 NCBI chr13:99,948,532...100,015,639
Ensembl chr13:99,948,530...100,015,639
JBrowse link
3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) ISO ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar PMID:11170888, PMID:14680978, PMID:24033266, PMID:25356967, PMID:25741868, PMID:28492532 NCBI chr 3:35,956,292...36,000,694
Ensembl chr 3:35,959,312...36,000,678
JBrowse link
G Mccc2 methylcrotonoyl-Coenzyme A carboxylase 2 (beta) ISO ClinVar Annotator: match by term: 3-MCC Deficiency ClinVar NCBI chr13:99,948,532...100,015,639
Ensembl chr13:99,948,530...100,015,639
JBrowse link
Actin-Accumulation Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital myopathy with excess of thin filaments ClinVar PMID:9185179, PMID:10508519, PMID:10528865, PMID:11333380, PMID:11525890, PMID:12601110, PMID:12921789, PMID:15226407, PMID:15236405, PMID:15468086, PMID:16427282, PMID:16945536, PMID:16967490, PMID:17227580, PMID:17387733, PMID:17705262, PMID:18414213, PMID:19206168, PMID:19553121, PMID:19562689, PMID:20303757, PMID:20621480, PMID:21514153, PMID:21520333, PMID:22442437, PMID:23102861, PMID:23294764, PMID:23394784, PMID:23650303, PMID:24033266, PMID:24642510, PMID:24787270, PMID:24852243, PMID:25182138, PMID:25214167, PMID:25326635, PMID:25470062, PMID:25525159, PMID:25635128, PMID:25741868, PMID:25890230, PMID:26172852, PMID:26436962, PMID:26467025, PMID:26507755, PMID:27447704, PMID:27854218, PMID:28256728, PMID:28357410, PMID:28416349, PMID:28492532, PMID:29274205, PMID:29792937, PMID:30253894, PMID:30311386, PMID:30354303 NCBI chr 8:123,891,758...123,894,775
Ensembl chr 8:123,891,769...123,894,751
JBrowse link
Acute Recurrent Myoglobinuria, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpin1 lipin 1 ISO ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive
ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria
ClinVar Annotator: match by term: Myoglobinuria, recurrent, autosomal recessive
OMIM
ClinVar
PMID:18591397, PMID:18817903, PMID:20583302, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:16,535,669...16,653,903
Ensembl chr12:16,535,669...16,646,966
JBrowse link
adult spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smn1 survival motor neuron 1 ISO ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, TYPE IV OMIM
ClinVar
PMID:21542063, PMID:25741868, PMID:28492532 NCBI chr13:100,123,205...100,137,699
Ensembl chr13:100,124,852...100,137,690
JBrowse link
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr10:24,595,442...24,598,683
Ensembl chr10:24,595,442...24,598,683
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein domain family, member 7 ISO ClinVar Annotator: match by term: Alazami syndrome
ClinVar Annotator: match by OMIM:615071
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:22865833, PMID:25741868, PMID:30006060, PMID:30311386, PMID:32860008 NCBI chr 3:127,536,714...127,553,349
Ensembl chr 3:127,536,714...127,553,349
JBrowse link
G Mir302d microRNA 302d ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 3:127,545,624...127,545,689
Ensembl chr 3:127,545,624...127,545,689
JBrowse link
G Mir367 microRNA 367 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 3:127,545,733...127,545,807
Ensembl chr 3:127,545,733...127,545,807
JBrowse link
Alcohol Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 ISO RGD PMID:14506614 RGD:1581765 NCBI chr 7:126,445,858...126,463,103
Ensembl chr 7:126,445,858...126,463,108
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 (monocarboxylic acid transporters), member 2 ISO
IEA
ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome
ClinVar Annotator: match by term: MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
OMIM:300523
ClinVar Annotator: match by OMIM:300523
OMIM
ClinVar
MouseDO
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:103,697,414...103,821,988
Ensembl chr  X:103,697,414...103,821,983
JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241, PMID:18231121, PMID:20236127, PMID:20979233, PMID:25741868, PMID:28492532 NCBI chr10:58,600,780...58,675,696
Ensembl chr10:58,600,789...58,675,654
JBrowse link
G Fanci Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:21880868, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chr 7:79,392,312...79,450,266
Ensembl chr 7:79,391,929...79,450,264
JBrowse link
G Polg polymerase (DNA directed), gamma susceptibility ISO
IAGP
DNA:mutations:cds:
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
DNA:missense mutations:cds:
ClinVar
CTD
OMIM
PMID:632821, PMID:1582434, PMID:2067633, PMID:2725645, PMID:8884268, PMID:9500334, PMID:11431686, PMID:11571332, PMID:11897778, PMID:12073019, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:12975295, PMID:14467368, PMID:14557557, PMID:14635118, PMID:14694057, PMID:14745080, PMID:15122711, PMID:15181170, PMID:15258572, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15534189, PMID:15689359, PMID:15800909, PMID:15824347, PMID:15913923, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16080118, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16545482, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16639411, PMID:16715201, PMID:16857757, PMID:16919951, PMID:16929381, PMID:16940310, PMID:16943369, PMID:16957900, PMID:17067213, PMID:17088268, PMID:17280874, PMID:17426723, PMID:17436221, PMID:17438011, PMID:17452231, PMID:17502560, PMID:17538929, PMID:17846414, PMID:17894835, PMID:17923349, PMID:17950645, PMID:17980715, PMID:18156159, PMID:18195149, PMID:18195151, PMID:18294203, PMID:18321754, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18716558, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19125351, PMID:19189930, PMID:19195941, PMID:19251978, PMID:19275594, PMID:19307547, PMID:19344718, PMID:19364868, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19629138, PMID:19752458, PMID:19762913, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19837034, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20153822, PMID:20176107, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20438629, PMID:20513108, PMID:20576279, PMID:20601675, PMID:20691285, PMID:20701905, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20837862, PMID:20843780, PMID:20883824, PMID:20981092, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21236670, PMID:21259344, PMID:21276947, PMID:21282586, PMID:21301859, PMID:21305355, PMID:21357833, PMID:21455106, PMID:21515089, PMID:21550804, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21696159, PMID:21704543, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21953457, PMID:21956653, PMID:21993618, PMID:22000311, PMID:22006280, PMID:22114710, PMID:22166854, PMID:22176657, PMID:22189570, PMID:22237560, PMID:22277967, PMID:22334187, PMID:22342071, PMID:22357363, PMID:22470557, PMID:22494076, PMID:22552686, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22778364, PMID:22863191, PMID:22931735, PMID:22933815, PMID:22987704, PMID:22995991, PMID:23066759, PMID:23077218, PMID:23084792, PMID:23208208, PMID:23212759, PMID:23248042, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23446635, PMID:23446645, PMID:23448099, PMID:23524600, PMID:23545419, PMID:23665194, PMID:23719791, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23873972, PMID:23921535, PMID:24033266, PMID:24091540, PMID:24099403, PMID:24122062, PMID:24259288, PMID:24265579, PMID:24272679, PMID:24288107, PMID:24331360, PMID:24508722, PMID:24642831, PMID:24725338, PMID:24841123, PMID:25025039, PMID:25065347, PMID:25118206, PMID:25203713, PMID:25281868, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25466440, PMID:25488682, PMID:25585994, PMID:25660390, PMID:25713120, PMID:25741868, PMID:25771874, PMID:25850945, PMID:25914719, PMID:25940035, PMID:26050231, PMID:26077851, PMID:26095671, PMID:26104464, PMID:26169155, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26607151, PMID:26735972, PMID:26755490, PMID:26942291, PMID:26942292, PMID:26968897, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27290639, PMID:27345795, PMID:27381400, PMID:27422324, PMID:27450679, PMID:27538604, PMID:27538665, PMID:27822509, PMID:27826120, PMID:27838477, PMID:27854218, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28206745, PMID:28284481, PMID:28337550, PMID:28471437, PMID:28480171, PMID:28492532, PMID:28634151, PMID:28771251, PMID:28776642, PMID:28812649, PMID:28815208, PMID:28837072, PMID:28865037, PMID:28901595, PMID:28958595, PMID:29029963, PMID:29190809, PMID:29272804, PMID:29278894, PMID:29302508, PMID:29341116, PMID:29358615, PMID:29423831, PMID:29474836, PMID:29482223, PMID:29574624, PMID:29588995, PMID:29644085, PMID:29712893, PMID:29915382, PMID:29920680, PMID:29950568, PMID:29992832, PMID:30021052, PMID:30167885, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30423451, PMID:30831263, PMID:30843307, PMID:15689359, PMID:20142534, PMID:16896309, PMID:22237560 RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr 7:79,374,865...79,392,250
Ensembl chr 7:79,374,870...79,387,048
JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma ClinVar PMID:11257105, PMID:16454848, PMID:18199528, PMID:21859464, PMID:24033266, PMID:25637381, PMID:25741868, PMID:26580448, PMID:27535533, PMID:28492532, PMID:28503720 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Foxo1 forkhead box O1 ISO OMIM NCBI chr 3:52,268,337...52,350,109
Ensembl chr 3:52,268,336...52,353,221
JBrowse link
G Pax3 paired box 3 ISO
IEA
DNA:translocations: (human)
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma
OMIM:268220
ClinVar
MouseDO
OMIM
PMID:24033266, PMID:25741868, PMID:15313887 RGD:1580944 NCBI chr 1:78,101,267...78,197,136
Ensembl chr 1:78,101,267...78,197,134
JBrowse link
G Pax7 paired box 7 ISO ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 OMIM
ClinVar
PMID:25741868, PMID:31092906, PMID:32214227 NCBI chr 4:139,737,059...139,833,530
Ensembl chr 4:139,737,062...139,833,528
JBrowse link
G Trp73 transformation related protein 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 4:154,056,249...154,139,875
Ensembl chr 4:154,056,253...154,140,208
Ensembl chr 4:154,056,253...154,140,208
JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 3:57,455,644...57,575,910
Ensembl chr 3:57,455,649...57,575,910
JBrowse link
alveolar soft part sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspscr1 alveolar soft part sarcoma chromosome region, candidate 1 (human) ISO OMIM NCBI chr11:120,672,973...120,709,447
Ensembl chr11:120,672,973...120,709,447
JBrowse link
Amyopathic Dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphism: :HLA-DQA1*0501;
DNA:polymorphism (human)
RGD PMID:18671865, PMID:8666549, PMID:15067086 RGD:5147790, RGD:8547569, RGD:5147796 NCBI chr17:34,282,744...34,287,823
Ensembl chr17:34,282,744...34,287,823
JBrowse link
amyotrophic lateral sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO
IEA
mRNA:decreased expression:motor neuron: MouseDO PMID:20372915, PMID:22226999 RGD:10755336, RGD:13432092 NCBI chr10:77,290,727...77,418,292
Ensembl chr10:77,290,726...77,418,270
JBrowse link
G Akt1 thymoma viral proto-oncogene 1 IEP protein:increased expression:skeletal muscle RGD PMID:18273716 RGD:5509081 NCBI chr12:112,653,821...112,674,884
Ensembl chr12:112,653,821...112,674,884
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28492532, PMID:28832565, PMID:11586297 RGD:1599080 NCBI chr 1:59,162,756...59,237,231
Ensembl chr 1:59,162,926...59,237,231
JBrowse link
G Ang angiogenin, ribonuclease, RNase A family, 5 no_association ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
DNA:missense mutations
DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human)
protein:increased expression:cerebrospinal fluid
ClinVar PMID:25741868, PMID:22190368, PMID:16501576, PMID:17462671, PMID:19177252 RGD:6892707, RGD:6892718, RGD:6892716, RGD:6892713 NCBI chr14:51,091,077...51,102,009
Ensembl chr14:51,091,150...51,102,009
JBrowse link
G Aox1 aldehyde oxidase 1 ISO RGD PMID:7570184 RGD:734575 NCBI chr 1:58,029,809...58,106,410
Ensembl chr 1:58,029,931...58,106,413
JBrowse link
G Apoe apolipoprotein E severity ISO DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) RGD PMID:8899655 RGD:12880359 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Aqp4 aquaporin 4 ISO mRNA, protein:increased expression:spinal cord
protein:increased expression:brainstem
RGD PMID:19089902, PMID:22987392 RGD:5490153, RGD:8662893 NCBI chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G Atg5 autophagy related 5 IEP mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr10:44,268,322...44,364,299
Ensembl chr10:44,268,358...44,364,291
JBrowse link
G Atox1 antioxidant 1 copper chaperone disease_progression IEP protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr11:55,446,637...55,461,208
Ensembl chr11:55,446,641...55,461,239
JBrowse link
G Atxn2 ataxin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:27377857 NCBI chr 5:121,711,609...121,814,950
Ensembl chr 5:121,711,337...121,816,493
JBrowse link
G Bad BCL2-associated agonist of cell death disease_progression IDA RGD PMID:10582606 RGD:13506907 NCBI chr19:6,941,861...6,951,905
Ensembl chr19:6,941,861...6,951,899
JBrowse link
G Bak1 BCL2-antagonist/killer 1 treatment IMP RGD PMID:20890041 RGD:13506803 NCBI chr17:27,019,812...27,028,627
Ensembl chr17:27,019,810...27,029,009
JBrowse link
G Bax BCL2-associated X protein treatment
disease_progression
severity
IEP
IMP
RGD PMID:24699224, PMID:10582606, PMID:20195368, PMID:20890041, PMID:21193837 RGD:13506797, RGD:13506907, RGD:13506805, RGD:13506803, RGD:13506800 NCBI chr 7:45,461,695...45,466,903
Ensembl chr 7:45,461,697...45,466,898
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 disease_progression IEP RGD PMID:10582606 RGD:13506907 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G Bcl2l1 BCL2-like 1 treatment
disease_progression
ISO
IEP
RGD PMID:18543336, PMID:10582606 RGD:13506902, RGD:13506907 NCBI chr 2:152,758,732...152,833,803
Ensembl chr 2:152,780,668...152,831,728
JBrowse link
G Becn1 beclin 1, autophagy related IEP mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr11:101,288,258...101,302,286
Ensembl chr11:101,285,952...101,302,286
JBrowse link
G Bid BH3 interacting domain death agonist IDA RGD PMID:29440992 RGD:13506949 NCBI chr 6:120,893,119...120,917,062
Ensembl chr 6:120,891,930...120,916,853
JBrowse link
G Bnip3l BCL2/adenovirus E1B interacting protein 3-like IDA RGD PMID:29440992 RGD:13506949 NCBI chr14:66,985,238...67,008,877
Ensembl chr14:66,985,239...67,008,877
JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO mRNA,protein:increased expression:spinal cord: RGD PMID:9225734 RGD:9586057 NCBI chr11:107,033,081...107,132,147
Ensembl chr11:107,033,081...107,132,127
JBrowse link
G C3 complement component 3 ISO RGD PMID:19050293 RGD:5130169 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G C5ar1 complement component 5a receptor 1 ISO RGD PMID:19050293 RGD:5130169 NCBI chr 7:16,246,743...16,259,540
Ensembl chr 7:16,246,743...16,259,540
JBrowse link
G C9orf72 C9orf72, member of C9orf72-SMCR8 complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:27713094 NCBI chr 4:35,191,285...35,226,153
Ensembl chr 4:35,191,285...35,226,175
JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 8:84,338,631...84,640,251
Ensembl chr 8:84,338,639...84,640,246
JBrowse link
G Calca calcitonin/calcitonin-related polypeptide, alpha IEP RGD PMID:21964254 RGD:5684010 NCBI chr 7:114,625,981...114,636,910
Ensembl chr 7:114,631,478...114,636,357
JBrowse link
G Camk1g calcium/calmodulin-dependent protein kinase I gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:23624525 NCBI chr 1:193,346,346...193,370,355
Ensembl chr 1:193,346,346...193,370,298
JBrowse link
G Casp12 caspase 12 ISO protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 9:5,345,442...5,373,034
Ensembl chr 9:5,345,430...5,373,032
JBrowse link
G Casp3 caspase 3 ISO protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 8:46,617,291...46,639,698
Ensembl chr 8:46,617,291...46,639,689
JBrowse link
G Casp9 caspase 9 ISO protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 4:141,793,612...141,815,978
Ensembl chr 4:141,793,612...141,815,976
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 disease_progression ISO protein:increased expression:plasma:
protein:decreased expression:monocyte:
RGD PMID:16857270, PMID:16857270 RGD:8657363, RGD:8657363 NCBI chr 9:124,101,918...124,109,140
Ensembl chr 9:124,101,950...124,113,557
JBrowse link
G Ccs copper chaperone for superoxide dismutase treatment ISO RGD PMID:26826269 RGD:13524551 NCBI chr19:4,825,366...4,839,356
Ensembl chr19:4,825,366...4,839,332
JBrowse link
G Cd40lg CD40 ligand IMP
ISO
CTD Direct Evidence: therapeutic CTD PMID:20348957, PMID:20348957 RGD:5490547 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Cdk5 cyclin-dependent kinase 5 IDA RGD PMID:11343650 RGD:734741 NCBI chr 5:24,407,597...24,423,587
Ensembl chr 5:24,418,241...24,423,530
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:27455348 NCBI chr10:77,978,530...77,985,438
Ensembl chr10:77,978,524...77,986,905
JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO DNA:mutations:cds:Q206H, I29V (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16807408, PMID:16807408 RGD:5688711 NCBI chr16:65,539,128...65,562,762
Ensembl chr16:65,539,128...65,562,726
JBrowse link
G Chrna3 cholinergic receptor, nicotinic, alpha polypeptide 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 9:55,010,117...55,026,562
Ensembl chr 9:55,010,111...55,026,562
JBrowse link
G Chrna4 cholinergic receptor, nicotinic, alpha polypeptide 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:7895015, PMID:18479385, PMID:22036597, PMID:25741868, PMID:28492532, PMID:29454195 NCBI chr 2:181,022,311...181,043,579
Ensembl chr 2:181,018,380...181,043,546
JBrowse link
G Chrnb4 cholinergic receptor, nicotinic, beta polypeptide 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 9:55,028,154...55,048,953
Ensembl chr 9:55,028,154...55,048,779
JBrowse link
G Cntf ciliary neurotrophic factor susceptibility IMP RGD PMID:11951178 RGD:734796 NCBI chr19:12,763,528...12,765,632
Ensembl chr19:12,763,660...12,765,632
JBrowse link
G Ctsh cathepsin H IEP mRNA, protein:increased expression:spinal cord RGD PMID:17583678 RGD:5686391 NCBI chr 9:90,054,267...90,076,095
Ensembl chr 9:90,054,152...90,076,089
JBrowse link
G Dao D-amino acid oxidase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 5:113,999,635...114,025,675
Ensembl chr 5:114,003,703...114,025,682
JBrowse link
G Dbr1 debranching RNA lariats 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23104007 NCBI chr 9:99,575,786...99,585,007
Ensembl chr 9:99,575,799...99,584,501
JBrowse link
G Dctn1 dynactin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to ClinVar PMID:15326253, PMID:16240349, PMID:17824900, PMID:18812314, PMID:19506225, PMID:22777741, PMID:23143281, PMID:25025039, PMID:25382069, PMID:25741868, PMID:26429889, PMID:26467025, PMID:26662454, PMID:27132499, PMID:28130640, PMID:28430856, PMID:28492532, PMID:28717666 NCBI chr 6:83,165,909...83,200,118
Ensembl chr 6:83,165,920...83,200,117
JBrowse link
G Ddx20 DEAD box helicase 20 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 3:105,678,270...105,687,788
Ensembl chr 3:105,678,270...105,687,574
JBrowse link
G Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr11:100,582,818...100,620,292
Ensembl chr11:100,582,818...100,620,168
Ensembl chr11:100,582,818...100,620,168
JBrowse link
G Dnmt3a DNA methyltransferase 3A IEP protein:decreased expression:mitochondrion: RGD PMID:24399935 RGD:9589066 NCBI chr12:3,801,559...3,914,443
Ensembl chr12:3,806,007...3,914,443
JBrowse link
G Dpp6 dipeptidylpeptidase 6 no_association ISO DNA:SNP:intron:rs10260404 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18084291, PMID:18708572, PMID:20137488 RGD:5687188, RGD:5687181 NCBI chr 5:26,817,357...27,727,500
Ensembl chr 5:26,817,203...27,727,505
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO protein:increased expression:spinal cord RGD PMID:12675919 RGD:2301741 NCBI chr17:78,850,504...78,882,572
Ensembl chr17:78,852,564...78,882,573
JBrowse link
G Elp3 elongator acetyltransferase complex subunit 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr14:65,530,446...65,593,112
Ensembl chr14:65,530,449...65,593,075
JBrowse link
G Epg5 ectopic P-granules autophagy protein 5 homolog (C. elegans) IEA MouseDO NCBI chr18:77,938,409...78,037,325
Ensembl chr18:77,938,465...78,035,013
JBrowse link
G Epo erythropoietin disease_progression ISO protein:decreased expression:cerebrospinal fluid RGD PMID:17368721 RGD:10395391 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:68,031,884...69,108,576
Ensembl chr 1:68,032,186...69,108,059
JBrowse link
G Ewsr1 Ewing sarcoma breakpoint region 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr11:5,069,687...5,099,107
Ensembl chr11:5,069,689...5,099,266
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:17572665, PMID:18180444, PMID:18261132, PMID:18556664, PMID:19118816, PMID:20630877, PMID:21655088, PMID:21705420, PMID:22131434, PMID:22998443, PMID:23489662, PMID:24878229, PMID:25510381, PMID:25617005, PMID:25741868, PMID:26467025, PMID:28051077, PMID:28492532, PMID:30311386 NCBI chr10:41,188,172...41,303,241
Ensembl chr10:41,188,172...41,303,260
JBrowse link
G Fus fused in sarcoma ISO CTD Direct Evidence: marker/mechanism CTD PMID:30455313, PMID:22055719, PMID:21408206 RGD:5509900, RGD:9685710 NCBI chr 7:127,966,789...127,982,032
Ensembl chr 7:127,967,457...127,985,701
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr15:7,810,048...7,837,580
Ensembl chr15:7,810,846...7,837,575
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11723166 NCBI chr11:102,887,336...102,897,200
Ensembl chr11:102,887,336...102,900,912
JBrowse link
G Gjc2 gap junction protein, gamma 2 IEP protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse) RGD PMID:24597481 RGD:13208591 NCBI chr11:59,175,564...59,183,213
Ensembl chr11:59,175,568...59,183,213
JBrowse link
G Gle1 GLE1 RNA export mediator (yeast) ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28884921 NCBI chr 2:29,935,409...29,959,432
Ensembl chr 2:29,935,426...29,960,371
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1, soluble treatment ISO human protein in a rat model RGD PMID:26113413 RGD:13506239 NCBI chr19:43,499,752...43,524,605
Ensembl chr19:43,499,752...43,524,605
JBrowse link
G Grn granulin disease_progression
onset
ISO
IMP
protein:increased expression:spinal cord, microglia
DNA:mutations: :
RGD PMID:21107132, PMID:18184915, PMID:21107132 RGD:5509593, RGD:5509619, RGD:5509593 NCBI chr11:102,430,507...102,436,809
Ensembl chr11:102,430,315...102,437,048
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO RGD PMID:12675919 RGD:2301741 NCBI chr 7:25,228,258...25,237,851
Ensembl chr 7:25,228,258...25,237,851
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO RGD PMID:12675919 RGD:2301741 NCBI chr16:38,089,001...38,246,084
Ensembl chr16:38,089,001...38,246,084
JBrowse link
G Gsr glutathione reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16681429 NCBI chr 8:33,653,238...33,698,162
Ensembl chr 8:33,652,523...33,698,163
JBrowse link
G Gstp1 glutathione S-transferase, pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16109392 NCBI chr19:4,035,411...4,037,912
Ensembl chr19:4,035,407...4,037,985
JBrowse link
G Hdac4 histone deacetylase 4 severity ISO RGD PMID:23824486 RGD:9681450 NCBI chr 1:91,928,779...92,195,702
Ensembl chr 1:91,928,779...92,195,699
JBrowse link
G Hes1 hes family bHLH transcription factor 1 IEP protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr16:30,065,357...30,067,796
Ensembl chr16:30,064,384...30,067,796
JBrowse link
G Hey1 hairy/enhancer-of-split related with YRPW motif 1 IEP protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 3:8,663,359...8,667,038
Ensembl chr 3:8,663,359...8,667,256
JBrowse link
G Hmgb1 high mobility group box 1 severity ISO RGD PMID:23639787 RGD:10402056 NCBI chr 5:149,046,702...149,053,057
Ensembl chr 5:149,046,702...149,184,489
JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K IEP protein:decreased expression:lumbar spinal cord ventral horn, astrocyte (mouse) RGD PMID:19323997 RGD:10058964 NCBI chr13:58,391,132...58,403,343
Ensembl chr13:58,391,142...58,403,343
JBrowse link
G Hrk harakiri, BCL2 interacting protein (contains only BH3 domain) IDA RGD PMID:29440992 RGD:13506949 NCBI chr 5:118,169,764...118,189,478
Ensembl chr 5:118,164,648...118,189,478
JBrowse link
G Igf1r insulin-like growth factor I receptor onset ISO mRNA:decreased expression:spinal cord (rat) RGD PMID:18683239 RGD:12904708 NCBI chr 7:67,952,257...68,233,668
Ensembl chr 7:67,952,827...68,233,668
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO protein:increased expression:spinal cord, astrocyte RGD PMID:18441505 RGD:2311519 NCBI chr17:12,682,406...12,769,706
Ensembl chr17:12,682,406...12,769,664
JBrowse link
G Itpr2 inositol 1,4,5-triphosphate receptor 2 susceptibility ISO DNA:snp:intron:g.26636386A>G rs2306677 (human) RGD PMID:17827064 RGD:6482791 NCBI chr 6:146,108,299...146,502,258
Ensembl chr 6:146,108,299...146,502,223
JBrowse link
G Jag1 jagged 1 IEP protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 2:137,081,451...137,116,520
Ensembl chr 2:137,081,456...137,116,644
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO protein:decreased expression:brainstem RGD PMID:22987392 RGD:8662893 NCBI chr 1:172,341,210...172,374,085
Ensembl chr 1:172,341,210...172,374,085
JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:decreased expression:spinal cord RGD PMID:16410746 RGD:1580568 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Keap1 kelch-like ECH-associated protein 1 ISO mRNA:increased expression:primary motor cortex (human) RGD PMID:18957896 RGD:6893397 NCBI chr 9:21,229,730...21,239,332
Ensembl chr 9:21,229,730...21,239,361
JBrowse link
G Kif1b kinesin family member 1B onset ISO
IEP
mRNA:decreased expression:precentral gyrus (human)
mRNA:increased expression, decreased expression:spinal cord, sciatic nerve (mouse)
RGD PMID:17418584, PMID:24904291 RGD:12738468, RGD:12738469 NCBI chr 4:149,176,319...149,307,773
Ensembl chr 4:149,176,319...149,307,693
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr10:127,225,695...127,266,348
Ensembl chr10:127,225,696...127,263,348
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO mRNA:increased expression:skeletal muscle RGD PMID:21375368 RGD:5508417 NCBI chr15:91,672,791...91,816,124
Ensembl chr15:91,673,175...91,816,120
JBrowse link
G Maml1 mastermind like transcriptional coactivator 1 IEP protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr11:50,255,634...50,293,131
Ensembl chr11:50,255,634...50,292,311
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha IEP mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr 2:155,276,364...155,278,073
Ensembl chr 2:155,276,297...155,278,073
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 IEP protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr10:19,934,101...20,142,750
Ensembl chr10:19,934,472...20,142,753
JBrowse link
G Mapk14 mitogen-activated protein kinase 14 IEP protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr17:28,691,342...28,748,405
Ensembl chr17:28,691,329...28,748,406
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO protein:increased expression:serum (human) RGD PMID:19796283 RGD:7207054 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO
IEP
protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord
RGD PMID:19796283, PMID:20441996 RGD:7207054, RGD:13204793 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO
IEP
protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord
RGD PMID:19796283, PMID:20441996 RGD:7207054, RGD:13204793 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Mobp myelin-associated oligodendrocytic basic protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:27455348 NCBI chr 9:120,149,742...120,181,488
Ensembl chr 9:120,149,707...120,181,484
JBrowse link
G Mstn myostatin ISO RGD PMID:16837207 RGD:2303556 NCBI chr 1:53,061,640...53,068,079
Ensembl chr 1:53,061,640...53,068,079
JBrowse link
G Mt1 metallothionein 1 IEP mRNA:increased expression:spinal cord (mouse) RGD PMID:16179515 RGD:6484130 NCBI chr 8:94,178,883...94,180,327
Ensembl chr 8:94,179,082...94,180,327
JBrowse link
G Mt2 metallothionein 2 onset IEP mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse) RGD PMID:18000159 RGD:6482832 NCBI chr 8:94,172,618...94,173,567
Ensembl chr 8:94,172,664...94,173,568
JBrowse link
G Mt3 metallothionein 3 IEP
IMP
ISO
RGD PMID:17097207, PMID:12388585, PMID:12417341 RGD:6480495, RGD:6480627, RGD:6480625 NCBI chr 8:94,152,607...94,154,148
Ensembl chr 8:94,152,607...94,154,146
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association
ISO DNA:polymorphism: :c.677C>T(human) RGD PMID:21128869, PMID:21868135 RGD:11565111, RGD:11565173 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Mtnr1a melatonin receptor 1A disease_progression IEP protein:decreased expression:spinal chord RGD PMID:23537713 RGD:13524569 NCBI chr 8:45,069,107...45,089,233
Ensembl chr 8:45,069,137...45,088,506
JBrowse link
G Mtrex Mtr4 exosome RNA helicase ISO mRNA:increased expression:peripheral blood lymphocyte (human) RGD PMID:23006766 RGD:11041891 NCBI chr13:112,867,780...112,927,380
Ensembl chr13:112,867,418...112,927,398
JBrowse link
G Nefh neurofilament, heavy polypeptide treatment ISO
IDA
DNA:deletions:cds:multiple (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar PMID:25741868, PMID:9931323, PMID:10686419 RGD:1302518, RGD:13525000 NCBI chr11:4,938,754...4,948,064
Ensembl chr11:4,938,754...4,948,064
JBrowse link
G Nefl neurofilament, light polypeptide treatment
disease_progression
IDA
ISO
protein:increased expression:serum, csf RGD PMID:10686419, PMID:26273687 RGD:13525000, RGD:13525006 NCBI chr14:68,083,863...68,089,095
Ensembl chr14:68,083,863...68,089,095
JBrowse link
G Nefm neurofilament, medium polypeptide ISO RGD PMID:16006557 RGD:9698444 NCBI chr14:68,119,545...68,125,004
Ensembl chr14:68,082,590...68,124,846
JBrowse link
G Nek1 NIMA (never in mitosis gene a)-related expressed kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:26945885, PMID:27455347 NCBI chr 8:60,993,157...61,131,349
Ensembl chr 8:60,993,195...61,131,346
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 treatment ISO
IEP
mRNA, protein:decreased expression:primary motor cortex, spinal cord (human) RGD PMID:18957896, PMID:22056419 RGD:6893397, RGD:10412690 NCBI chr 2:75,675,513...75,704,663
Ensembl chr 2:75,675,513...75,704,641
JBrowse link
G Nos2 nitric oxide synthase 2, inducible IEP protein:increased expression:spinal cord (mouse) RGD PMID:21867702 RGD:5509065 NCBI chr11:78,920,787...78,960,226
Ensembl chr11:78,920,787...78,960,254
JBrowse link
G Notch1 notch 1 IEP protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 2:26,457,902...26,503,822
Ensembl chr 2:26,457,903...26,516,663
JBrowse link
G Optn optineurin ISO protein:increased expression:spinal cord, neuron
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
DNA:deletion, missense mutation, nonsense mutation:exon:p.Q398X, p.E478G (human)
DNA:missense mutations, nonsense mutation:cds, intron:multiple
ClinVar
CTD
PMID:21059646, PMID:25096716, PMID:25741868, PMID:21825243, PMID:20428114, PMID:21613650 RGD:6480502, RGD:6480506, RGD:6480504 NCBI chr 2:5,020,521...5,064,399
Ensembl chr 2:5,020,642...5,064,051
JBrowse link
G Park7 Parkinson disease (autosomal recessive, early onset) 7 ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 4:150,897,133...150,909,921
Ensembl chr 4:150,897,133...150,914,437
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr11:70,651,844...70,656,799
Ensembl chr11:70,651,850...70,654,644
JBrowse link
G Pgf placental growth factor ISO RGD PMID:22119626 RGD:6483573 NCBI chr12:85,166,637...85,177,785
Ensembl chr12:85,166,635...85,177,790
JBrowse link
G Pla2g4a phospholipase A2, group IVA (cytosolic, calcium-dependent) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15816863 NCBI chr 1:149,829,618...149,961,290
Ensembl chr 1:149,829,618...149,961,290
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 8:3,515,235...3,544,267
Ensembl chr 8:3,515,384...3,544,267
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:28070599 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Pon2 paraoxonase 2 ISO DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2 (human) RGD PMID:16822964 RGD:5509925 NCBI chr 6:5,264,620...5,298,345
Ensembl chr 6:5,264,147...5,298,455
JBrowse link
G Pon3 paraoxonase 3 ISO DNA:SNP:intron:rs10487132, association with LD block containing both PON3 and PON2 (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar PMID:25741868, PMID:28492532, PMID:16822964 RGD:5509925 NCBI chr 6:5,216,256...5,256,285
Ensembl chr 6:5,220,852...5,256,286
JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO
IEP
human gene in mouse model
mRNA:decreased expression:motor cortex, muscle (human)
mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse)
RGD PMID:22102466, PMID:23147503, PMID:23147503 RGD:6484265, RGD:7242019, RGD:7242019 NCBI chr 5:51,454,249...52,115,853
Ensembl chr 5:51,454,250...51,567,726
JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A IEP protein:increased expression:spinal cord, astrocyte, microglia (mouse) RGD PMID:23118353 RGD:9999418 NCBI chr 7:45,522,917...45,526,268
Ensembl chr 7:45,522,916...45,526,268
JBrowse link
G Prph peripherin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to ClinVar PMID:15322088, PMID:15446584, PMID:25741868, PMID:28492532 NCBI chr15:99,053,579...99,058,978
Ensembl chr15:99,055,174...99,058,978
JBrowse link
G Psmc4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 IEA MouseDO NCBI chr 7:28,041,702...28,050,092
Ensembl chr 7:28,041,707...28,050,101
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:spinal cord, neuron, glia
CTD Direct Evidence: marker/mechanism
CTD PMID:11220737, PMID:15816863, PMID:14511332 RGD:5688235 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z, polypeptide 1 treatment ISO RGD PMID:25113670 RGD:9590123 NCBI chr 6:22,875,315...23,052,916
Ensembl chr 6:22,875,502...23,052,916
JBrowse link
G Rara retinoic acid receptor, alpha ISO RGD PMID:17956549 RGD:2314289 NCBI chr11:98,927,800...98,974,942
Ensembl chr11:98,927,818...98,974,942
JBrowse link
G Rnase4 ribonuclease, RNase A family 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr14:51,091,077...51,106,151
Ensembl chr14:51,091,077...51,106,151
JBrowse link
G Runx1 runt related transcription factor 1 IEP mRNA:increased expression:skeletal muscle RGD PMID:18000159 RGD:6482832 NCBI chr16:92,601,466...92,826,074
Ensembl chr16:92,601,466...92,826,149
JBrowse link
G Sarm1 sterile alpha and HEAT/Armadillo motif containing 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr11:78,470,273...78,497,816
Ensembl chr11:78,472,330...78,497,754
JBrowse link
G Scfd1 Sec1 family domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:27455348 NCBI chr12:51,377,513...51,450,104
Ensembl chr12:51,377,510...51,450,101
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:12067231 RGD:8554892 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:29,123,588...29,182,471
Ensembl chr 2:29,124,181...29,182,471
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24885036 NCBI chr 4:41,738,493...41,741,359
Ensembl chr 4:41,738,493...41,756,157
JBrowse link
G Sirt1 sirtuin 1 IEP protein:increased expression:spinal cord (mouse) RGD PMID:17581637 RGD:2290573 NCBI chr10:63,319,005...63,339,035
Ensembl chr10:63,319,005...63,381,704
JBrowse link
G Slc11a2 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 onset ISO DNA:SNP: :rs407135 (human) RGD PMID:21276595 RGD:5688710 NCBI chr15:100,387,898...100,424,209
Ensembl chr15:100,387,898...100,425,072
JBrowse link
G Slc1a2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 ISO mRNA:processing errors:spinal cord, motor cortex (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:11723166, PMID:9539131 RGD:1302517 NCBI chr 2:102,658,239...102,790,784
Ensembl chr 2:102,658,659...102,790,784
JBrowse link
G Slc31a1 solute carrier family 31, member 1 disease_progression IEP protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 4:62,360,583...62,391,769
Ensembl chr 4:62,360,727...62,391,769
JBrowse link
G Slc6a1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20132478 NCBI chr 6:114,282,635...114,317,525
Ensembl chr 6:114,282,635...114,317,532
JBrowse link
G Sod1 superoxide dismutase 1, soluble treatment ISO human gene in a rat model;DNA:missense mutation:cds:p.G93A (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
protein:increased expression:cerebrospinal fluid (human)
ClinVar
CTD
PMID:7887412, PMID:9065559, PMID:10025816, PMID:10930589, PMID:11220737, PMID:11590119, PMID:11723166, PMID:12586733, PMID:12626432, PMID:16495328, PMID:17097207, PMID:17319283, PMID:17496168, PMID:18233996, PMID:19635794, PMID:19929749, PMID:20132483, PMID:20177826, PMID:20348957, PMID:20515040, PMID:21867702, PMID:23583883, PMID:24885036, PMID:25164820, PMID:25741868, PMID:30503815, PMID:18947433, PMID:26826269, PMID:23147550 RGD:2312367, RGD:13524551, RGD:8655880 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:8866423 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Spg11 SPG11, spatacsin vesicle trafficking associated ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:18337587, PMID:22696581, PMID:23733235, PMID:24833714, PMID:25588603, PMID:25741868, PMID:26467025, PMID:27884173, PMID:27904835, PMID:28130640, PMID:28492532 NCBI chr 2:122,053,526...122,119,434
Ensembl chr 2:122,053,520...122,118,386
JBrowse link
G Sqstm1 sequestosome 1 ISO
IEP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
mRNA:increased expression:spinal cord
CTD
ClinVar
PMID:19765191, PMID:25741868, PMID:28492532, PMID:23851366 RGD:11561951 NCBI chr11:50,200,152...50,210,820
Ensembl chr11:50,199,366...50,210,827
JBrowse link
G Ss18l1 SS18, nBAF chromatin remodeling complex subunit like 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 2:180,042,483...180,070,201
Ensembl chr 2:180,042,509...180,070,201
JBrowse link
G Steap2 six transmembrane epithelial antigen of prostate 2 disease_progression IEP protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 5:5,664,829...5,694,649
Ensembl chr 5:5,664,829...5,694,578
JBrowse link
G Tardbp TAR DNA binding protein disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:
DNA:mutation:cds:p.G295S(human)
protein:increased phosphorylation:brain
DNA:mutation:cds:p.M337V(human)
CTD PMID:18372902, PMID:21167262, PMID:22879928, PMID:23104007, PMID:24019256, PMID:24252504, PMID:21752789, PMID:18372902, PMID:21651514, PMID:17023659, PMID:18309045, PMID:21998667 RGD:5687134, RGD:5687192, RGD:5687173, RGD:5687158, RGD:5687157, RGD:5687137 NCBI chr 4:148,612,382...148,627,084
Ensembl chr 4:148,612,382...148,627,019
JBrowse link
G Tfam transcription factor A, mitochondrial severity ISO RGD PMID:22354563 RGD:6767572 NCBI chr10:71,225,468...71,238,328
Ensembl chr10:71,225,464...71,238,280
JBrowse link
G Tnf tumor necrosis factor IEP protein:increased expression:spinal cord RGD PMID:13678668 RGD:12904653 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf21 tumor necrosis factor receptor superfamily, member 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24113175 NCBI chr17:43,016,555...43,089,188
Ensembl chr17:43,016,555...43,089,189
JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr11:54,910,787...54,962,956
Ensembl chr11:54,910,785...54,962,917
JBrowse link
G Trp53 transformation related protein 53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17434459 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to ClinVar PMID:16051700, PMID:19405049, PMID:25741868 NCBI chr 2:126,791,558...126,876,261
Ensembl chr 2:126,791,565...126,876,230
JBrowse link
G Tubb4a tubulin, beta 4A class IVA ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:30311386 NCBI chr17:57,080,061...57,087,600
Ensembl chr17:57,080,066...57,087,782
JBrowse link
G Txnrd1 thioredoxin reductase 1 susceptibility ISO DNA:SNPs:intron:rs6539137, rs4630362 (human) RGD PMID:18996185 RGD:5685032 NCBI chr10:82,833,951...82,897,724
Ensembl chr10:82,833,951...82,897,712
JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:21857683, PMID:25333069, PMID:25616961, PMID:25741868, PMID:26075709, PMID:28492532, PMID:21857683 RGD:5147832 NCBI chr  X:153,498,232...153,501,562
Ensembl chr  X:153,498,227...153,501,570
JBrowse link
G Unc13a unc-13 homolog A no_association ISO DNA:SNP:intron:rs12608932 (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19734901, PMID:25741868, PMID:20385924, PMID:19734901 RGD:5686382, RGD:5686384 NCBI chr 8:71,624,125...71,671,774
Ensembl chr 8:71,624,417...71,671,757
JBrowse link
G Vapb vesicle-associated membrane protein, associated protein B and C ISO DNA:missense mutation:cds:p.P56S (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, typical
ClinVar PMID:15372378, PMID:16187141, PMID:16967488, PMID:17804640, PMID:18322265, PMID:18677189, PMID:19183264, PMID:20008544, PMID:20377183, PMID:20447143, PMID:20577002, PMID:21275991, PMID:21685205, PMID:21933185, PMID:22131369, PMID:22258555, PMID:22454507, PMID:23333387, PMID:23446633, PMID:23771029, PMID:24212516, PMID:24681403, PMID:26467025, PMID:26566915, PMID:27978769, PMID:28492532, PMID:15372378 RGD:5688230 NCBI chr 2:173,737,571...173,784,336
Ensembl chr 2:173,737,511...173,784,339
JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:15034582, PMID:20604808, PMID:22270372, PMID:22909335, PMID:23333620, PMID:25617006, PMID:25741868, PMID:28492532 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility ISO DNA:SNP:intron:rs7975232(human) RGD PMID:26190642 RGD:11560790 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16410746 RGD:1580568 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Zfp106 zinc finger protein 106 IEA MouseDO NCBI chr 2:120,506,820...120,563,864
Ensembl chr 2:120,506,820...120,563,843
JBrowse link
amyotrophic lateral sclerosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l1 BCL2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:152,758,732...152,833,803
Ensembl chr 2:152,780,668...152,831,728
JBrowse link
G Bsg basigin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:79,704,358...79,711,979
Ensembl chr10:79,704,491...79,711,969
JBrowse link
G Calb2 calbindin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:110,142,526...110,168,212
Ensembl chr 8:110,137,502...110,168,210
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
JBrowse link
G Cd68 CD68 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:69,664,213...69,666,170
Ensembl chr11:69,664,213...69,666,153
JBrowse link
G Cd7 CD7 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:121,036,747...121,039,478
Ensembl chr11:121,036,747...121,039,418
JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr14:65,968,483...65,981,548
Ensembl chr14:65,968,483...65,981,547
JBrowse link
G Cntf ciliary neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11951178 NCBI chr19:12,763,528...12,765,632
Ensembl chr19:12,763,660...12,765,632
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:4,081,334...4,213,957
Ensembl chr16:4,081,328...4,213,997
JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:148,871,722...148,875,512
Ensembl chr 2:148,871,722...148,875,692
JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 7:142,375,910...142,387,827
Ensembl chr 7:142,375,911...142,388,038
JBrowse link
G Dbx1 developing brain homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 7:49,631,499...49,636,835
Ensembl chr 7:49,631,499...49,636,849
JBrowse link
G Dctn1 dynactin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
OMIM
ClinVar
PMID:12062019, PMID:12627231, PMID:15326253, PMID:16240349, PMID:16505168, PMID:17824900, PMID:18094236, PMID:18364389, PMID:18812314, PMID:19279216, PMID:19506225, PMID:22777741, PMID:23143281, PMID:23881933, PMID:24484619, PMID:24627108, PMID:24881494, PMID:25025039, PMID:25299611, PMID:25382069, PMID:25741868, PMID:26392352, PMID:26429889, PMID:26467025, PMID:26662454, PMID:27132499, PMID:27573046, PMID:28130640, PMID:28430856, PMID:28492532, PMID:28717666, PMID:28792508, PMID:29089398, PMID:29339765, PMID:29525180 NCBI chr 6:83,165,909...83,200,118
Ensembl chr 6:83,165,920...83,200,117
JBrowse link
G Fancg Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 4:43,002,337...43,010,567
Ensembl chr 4:43,002,343...43,010,506
JBrowse link
G Fgf6 fibroblast growth factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:127,015,542...127,024,718
Ensembl chr 6:127,015,586...127,028,187
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr10:41,188,172...41,303,241
Ensembl chr10:41,188,172...41,303,260
JBrowse link
G Fmo1 flavin containing monooxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127561 NCBI chr 1:162,829,561...162,866,610
Ensembl chr 1:162,829,561...162,866,610
JBrowse link
G Folh1 folate hydrolase 1 treatment IMP RGD PMID:12876198 RGD:737756 NCBI chr 7:86,716,525...86,776,053
Ensembl chr 7:86,718,977...86,775,943
JBrowse link
G Fos FBJ osteosarcoma oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:85,473,890...85,477,274
Ensembl chr12:85,473,890...85,477,273
JBrowse link
G Fus fused in sarcoma ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr 7:127,966,789...127,982,032
Ensembl chr 7:127,967,457...127,985,701
JBrowse link
G Gabra1 gamma-aminobutyric acid (GABA) A receptor, subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:42,130,939...42,183,066
Ensembl chr11:42,130,939...42,182,930
JBrowse link
G Gbx2 gastrulation brain homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:89,927,962...89,931,176
Ensembl chr 1:89,927,956...89,931,179
JBrowse link
G Gdi1 guanosine diphosphate (GDP) dissociation inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:74,305,012...74,311,867
Ensembl chr  X:74,304,998...74,311,862
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:102,887,336...102,897,200
Ensembl chr11:102,887,336...102,900,912
JBrowse link
G Gria3 glutamate receptor, ionotropic, AMPA3 (alpha 3) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15264227 NCBI chr  X:41,400,819...41,678,601
Ensembl chr  X:41,400,854...41,678,601
JBrowse link
G Gsx2 GS homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 5:75,075,601...75,077,893
Ensembl chr 5:75,075,601...75,077,893
JBrowse link
G Hsf1 heat shock factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24256636 NCBI chr15:76,477,362...76,501,155
Ensembl chr15:76,477,422...76,501,913
JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:47,014,681...47,025,327
Ensembl chr19:47,014,698...47,025,327
JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:71,676,383...71,690,577
Ensembl chr 8:71,676,296...71,690,575
JBrowse link
G Jund jun D proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:70,697,739...70,700,616
Ensembl chr 8:70,698,949...70,700,616
JBrowse link
G Kif3c kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:3,365,132...3,406,494
Ensembl chr12:3,365,132...3,406,494
JBrowse link
G Kif5a kinesin family member 5A IEP mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr10:127,225,695...127,266,348
Ensembl chr10:127,225,696...127,263,348
JBrowse link
G Kif5c kinesin family member 5C IEP mRNA:increased expression:frontal cortex, cerebellum (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr 2:49,619,286...49,774,778
Ensembl chr 2:49,619,298...49,774,778
JBrowse link
G Lat linker for activation of T cells ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 7:126,363,827...126,369,705
Ensembl chr 7:126,363,824...126,369,570
JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:21,723,576...21,749,919
Ensembl chr 9:21,723,483...21,749,919
JBrowse link
G Masp2 mannan-binding lectin serine peptidase 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:24033266, PMID:28492532 NCBI chr 4:148,594,622...148,615,499
Ensembl chr 4:148,602,554...148,615,499
JBrowse link
G Mt1 metallothionein 1 EXP CTD Direct Evidence: therapeutic CTD PMID:24163136 NCBI chr 8:94,178,883...94,180,327
Ensembl chr 8:94,179,082...94,180,327
JBrowse link
G Nefh neurofilament, heavy polypeptide ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr11:4,938,754...4,948,064
Ensembl chr11:4,938,754...4,948,064
JBrowse link
G Otog otogelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 7:46,240,987...46,311,434
Ensembl chr 7:46,240,987...46,311,434
JBrowse link
G Pdgfa platelet derived growth factor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 5:138,976,014...139,000,792
Ensembl chr 5:138,976,014...138,997,370
JBrowse link
G Penk preproenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:4,133,536...4,138,815
Ensembl chr 4:4,133,531...4,138,819
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17204329 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Prph peripherin ISO OMIM NCBI chr15:99,053,579...99,058,978
Ensembl chr15:99,055,174...99,058,978
JBrowse link
G Rxra retinoid X receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:27,676,445...27,763,319
Ensembl chr 2:27,676,440...27,762,957
JBrowse link
G Selplg selectin, platelet (p-selectin) ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 5:113,817,798...113,832,528
Ensembl chr 5:113,818,536...113,832,644
JBrowse link
G Serpina3m serine (or cysteine) peptidase inhibitor, clade A, member 3M EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:104,387,157...104,394,259
Ensembl chr12:104,338,486...104,394,257
JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:104,406,646...104,414,334
Ensembl chr12:104,406,729...104,414,329
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:23757202, PMID:25741868, PMID:28492532 NCBI chr 2:29,123,588...29,182,471
Ensembl chr 2:29,124,181...29,182,471
JBrowse link
G Shc1 src homology 2 domain-containing transforming protein C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:89,418,551...89,430,029
Ensembl chr 3:89,418,443...89,430,027
JBrowse link
G Six2 sine oculis-related homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:85,662,736...85,688,254
Ensembl chr17:85,684,277...85,688,274
JBrowse link
G Snai1 snail family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:167,538,195...167,542,814
Ensembl chr 2:167,538,195...167,542,814
JBrowse link
G Sncg synuclein, gamma IEA OMIM:105400 MouseDO NCBI chr14:34,370,274...34,374,669
Ensembl chr14:34,370,274...34,374,789
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO
IEA
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive
OMIM:105400
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar Annotator: match by OMIM:105400
DNA:missense mutation:cds:p.D90A (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutation:cds:p.I113T (human)
OMIM
ClinVar
MouseDO
CTD
PMID:1259395, PMID:7496169, PMID:7501156, PMID:7635196, PMID:7643359, PMID:7647793, PMID:7655469, PMID:7655471, PMID:7673954, PMID:7755363, PMID:7836951, PMID:7887412, PMID:7891072, PMID:7911198, PMID:7951249, PMID:7985500, PMID:7997024, PMID:8004110, PMID:8058797, PMID:8069312, PMID:8105280, PMID:8179602, PMID:8298637, PMID:8351519, PMID:8446170, PMID:8528216, PMID:8560268, PMID:8572658, PMID:8650157, PMID:8682505, PMID:8813280, PMID:8830861, PMID:8875253, PMID:8900247, PMID:8909456, PMID:8938700, PMID:8967745, PMID:8990014, PMID:9008494, PMID:9029070, PMID:9052802, PMID:9101297, PMID:9228005, PMID:9365366, PMID:9455977, PMID:9506558, PMID:9706719, PMID:9743498, PMID:9817920, PMID:9857958, PMID:10400992, PMID:10430435, PMID:10439968, PMID:10624810, PMID:10732812, PMID:10735277, PMID:10764647, PMID:10809943, PMID:10889018, PMID:11181815, PMID:11220750, PMID:11284995, PMID:11346368, PMID:11369193, PMID:11464950, PMID:11467054, PMID:11675877, PMID:11676987, PMID:11796754, PMID:11951178, PMID:12127151, PMID:12165567, PMID:12358759, PMID:12402272, PMID:12442272, PMID:12482932, PMID:12729761, PMID:12732844, PMID:12783432, PMID:12792143, PMID:12963370, PMID:13129804, PMID:13804989, PMID:14506936, PMID:14623191, PMID:14658402, PMID:14755739, PMID:14875225, PMID:14970233, PMID:15056757, PMID:15069187, PMID:15096637, PMID:15258228, PMID:15264227, PMID:15522870, PMID:15579468, PMID:15634772, PMID:15843422, PMID:15952898, PMID:15987780, PMID:16020530, PMID:16038516, PMID:16105836, PMID:16291929, PMID:16476815, PMID:16674979, PMID:16793335, PMID:16945901, PMID:17146286, PMID:17255946, PMID:17257622, PMID:17319283, PMID:17333220, PMID:17394531, PMID:17420412, PMID:17453632, PMID:17486090, PMID:17543992, PMID:18055113, PMID:18301754, PMID:18319614, PMID:18428003, PMID:18504130, PMID:18608106, PMID:18666828, PMID:18669821, PMID:18951903, PMID:19139308, PMID:19176896, PMID:19196430, PMID:19227972, PMID:19259395, PMID:19332692, PMID:19363716, PMID:19483195, PMID:19618436, PMID:19635794, PMID:19685200, PMID:19703565, PMID:19751676, PMID:19800308, PMID:19815002, PMID:19847927, PMID:19922148, PMID:19965850, PMID:20079423, PMID:20184515, PMID:20184519, PMID:20184521, PMID:20184893, PMID:20189984, PMID:20309572, PMID:20385392, PMID:20399791, PMID:20404329, PMID:20404910, PMID:20460594, PMID:20472325, PMID:20485746, PMID:20540686, PMID:20562451, PMID:20577002, PMID:20801718, PMID:21140194, PMID:21226712, PMID:21257910, PMID:21329474, PMID:21506602, PMID:21549128, PMID:21549454, PMID:21603025, PMID:21651514, PMID:21700707, PMID:21700728, PMID:21901496, PMID:21930207, PMID:22094223, PMID:22264771, PMID:22292843, PMID:22332887, PMID:22475618, PMID:22499346, PMID:22589106, PMID:22595972, PMID:22645277, PMID:22647583, PMID:22670878, PMID:22722621, PMID:22941224, PMID:22985433, PMID:23062701, PMID:23100398, PMID:23118898, PMID:23280792, PMID:23286750, PMID:23291526, PMID:23321002, PMID:23447461, PMID:23541756, PMID:23612299, PMID:23726301, PMID:23760509, PMID:23773010, PMID:23784844, PMID:23792044, PMID:23837654, PMID:23881933, PMID:23949607, PMID:23962495, PMID:24134191, PMID:24139042, PMID:24163136, PMID:24256636, PMID:24325798, PMID:24369116, PMID:24439480, PMID:24472010, PMID:24591457, PMID:24704493, PMID:24769475, PMID:24793051, PMID:24908169, PMID:24971881, PMID:25025039, PMID:25052939, PMID:25096579, PMID:25109764, PMID:25178511, PMID:25299611, PMID:25382069, PMID:25509359, PMID:25578810, PMID:25600987, PMID:25741868, PMID:25792239, PMID:25806427, PMID:26059445, PMID:26069299, PMID:26362407, PMID:26467025, PMID:26694608, PMID:26742954, PMID:26791423, PMID:26843957, PMID:27257061, PMID:27261500, PMID:27584932, PMID:27604643, PMID:27810918, PMID:27884173, PMID:27978769, PMID:28003435, PMID:28089114, PMID:28089144, PMID:28105640, PMID:28222900, PMID:28291249, PMID:28325066, PMID:28401346, PMID:28430856, PMID:28492532, PMID:28620717, PMID:28642336, PMID:28877271, PMID:29367447, PMID:29861044, PMID:30311386, PMID:30637102, PMID:10809943, PMID:8815157, PMID:20184521, PMID:8446170 RGD:8655873, RGD:8655862, RGD:8655618, RGD:737689 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial IEA OMIM:105400 MouseDO NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19411082, PMID:20082726, PMID:20675015, PMID:20708823, PMID:22575358, PMID:24033266, PMID:24477737, PMID:26467025, PMID:28492532 NCBI chr 4:148,612,382...148,627,084
Ensembl chr 4:148,612,382...148,627,019
JBrowse link
G Tiam1 T cell lymphoma invasion and metastasis 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:89,787,111...90,145,600
Ensembl chr16:89,787,111...90,143,769
JBrowse link
G Tle3 transducin-like enhancer of split 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:61,372,326...61,418,497
Ensembl chr 9:61,372,366...61,418,497
JBrowse link
G Tmsb4x thymosin, beta 4, X chromosome ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:167,207,093...167,213,479
Ensembl chr  X:167,207,093...167,209,315
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:153,498,232...153,501,562
Ensembl chr  X:153,498,227...153,501,570
JBrowse link
G Vapb vesicle-associated membrane protein, associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr 2:173,737,571...173,784,336
Ensembl chr 2:173,737,511...173,784,339
JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507
JBrowse link
G Vegfa vascular endothelial growth factor A IEA OMIM:105400 MouseDO NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:13,574,311...13,582,826
Ensembl chr 2:13,573,927...13,582,826
JBrowse link
G Vps54 VPS54 GARP complex subunit IEA OMIM:105400 MouseDO NCBI chr11:21,239,032...21,321,133
Ensembl chr11:21,239,281...21,321,136
JBrowse link
G Wnt7a wingless-type MMTV integration site family, member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:91,363,981...91,411,353
Ensembl chr 6:91,363,981...91,411,363
JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:42,059,613...42,109,664
Ensembl chr  X:42,059,679...42,109,656
JBrowse link
amyotrophic lateral sclerosis type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Masp2 mannan-binding lectin serine peptidase 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar NCBI chr 4:148,594,622...148,615,499
Ensembl chr 4:148,602,554...148,615,499
JBrowse link
G Tardbp TAR DNA binding protein ISO
IEA
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10
ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
OMIM:612069
ClinVar Annotator: match by OMIM:612069
OMIM
ClinVar
MouseDO
PMID:18068872, PMID:18288693, PMID:18309045, PMID:18372902, PMID:18396105, PMID:18438952, PMID:18505686, PMID:18545701, PMID:18779421, PMID:18802454, PMID:18931000, PMID:19204172, PMID:19224587, PMID:19228676, PMID:19236453, PMID:19350673, PMID:19411082, PMID:19429692, PMID:19465477, PMID:19515851, PMID:19609911, PMID:19618195, PMID:19695877, PMID:19760257, PMID:19786775, PMID:19808791, PMID:19864663, PMID:19959528, PMID:20031275, PMID:20082726, PMID:20154440, PMID:20301761, PMID:20472325, PMID:20555136, PMID:20558945, PMID:20577002, PMID:20600671, PMID:20624952, PMID:20645878, PMID:20675015, PMID:20697052, PMID:20708823, PMID:20806063, PMID:21123567, PMID:21173160, PMID:21220647, PMID:21403029, PMID:21438137, PMID:21752789, PMID:21829392, PMID:22406069, PMID:22456481, PMID:22539580, PMID:22563080, PMID:22575358, PMID:22645277, PMID:23231971, PMID:23235148, PMID:23327806, PMID:23345247, PMID:23401527, PMID:23457265, PMID:23827948, PMID:24117534, PMID:24143176, PMID:24300238, PMID:24477737, PMID:24507191, PMID:25442115, PMID:25588603, PMID:25741868, PMID:26096467, PMID:26467025, PMID:26777436, PMID:26883171, PMID:28089114, PMID:28286471, PMID:28335005, PMID:28430856, PMID:28492532, PMID:28709720, PMID:28889094, PMID:31124595 NCBI chr 4:148,612,382...148,627,084
Ensembl chr 4:148,612,382...148,627,019
JBrowse link
amyotrophic lateral sclerosis type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11
ClinVar Annotator: match by OMIM:612577
OMIM
ClinVar
PMID:17572665, PMID:18180444, PMID:18261132, PMID:18556664, PMID:19118816, PMID:20630877, PMID:21655088, PMID:21705420, PMID:22131434, PMID:22998443, PMID:23336365, PMID:23489662, PMID:24878229, PMID:25510381, PMID:25614874, PMID:25617005, PMID:25741868, PMID:26467025, PMID:28051077, PMID:28492532, PMID:29342275, PMID:29650794, PMID:30311386 NCBI chr10:41,188,172...41,303,241
Ensembl chr10:41,188,172...41,303,260
JBrowse link
amyotrophic lateral sclerosis type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Optn optineurin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 OMIM
ClinVar
PMID:11834836, PMID:11978762, PMID:12208142, PMID:12789137, PMID:12939304, PMID:14597044, PMID:15226658, PMID:15326130, PMID:15761120, PMID:16205626, PMID:16358725, PMID:16619239, PMID:17122126, PMID:17293779, PMID:17615537, PMID:19096531, PMID:19145250, PMID:19172505, PMID:19672125, PMID:20428114, PMID:20671613, PMID:20981092, PMID:21074290, PMID:21217154, PMID:21220178, PMID:21550138, PMID:21613650, PMID:21852022, PMID:22402017, PMID:22708870, PMID:22892313, PMID:22995991, PMID:23062601, PMID:25333069, PMID:25741868, PMID:25943890, PMID:26467025, PMID:26566915, PMID:28492532, PMID:29650794 NCBI chr 2:5,020,521...5,064,399
Ensembl chr 2:5,020,642...5,064,051
JBrowse link
amyotrophic lateral sclerosis type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
ClinVar Annotator: match by OMIM:613954
OMIM
ClinVar
PMID:15034582, PMID:16247064, PMID:16321991, PMID:16790606, PMID:16984901, PMID:17329348, PMID:17763460, PMID:17889967, PMID:18341608, PMID:19225410, PMID:19237541, PMID:19364651, PMID:19704082, PMID:20008565, PMID:20104022, PMID:20512113, PMID:20604808, PMID:21145000, PMID:21320982, PMID:21387114, PMID:21816654, PMID:21822278, PMID:21920633, PMID:21984748, PMID:22078486, PMID:22137929, PMID:22270372, PMID:22686199, PMID:22898872, PMID:22900631, PMID:22909335, PMID:23029473, PMID:23056506, PMID:23152587, PMID:23169451, PMID:23333620, PMID:23498975, PMID:24196964, PMID:24829604, PMID:25125609, PMID:25388089, PMID:25492614, PMID:25617006, PMID:25618255, PMID:25741868, PMID:25775548, PMID:26105173, PMID:26467025, PMID:26555887, PMID:27209344, PMID:27226613, PMID:27768726, PMID:27790088, PMID:28130640, PMID:28360103, PMID:28430856, PMID:28492532, PMID:28692196, PMID:29754758, PMID:29899994 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507
JBrowse link
amyotrophic lateral sclerosis type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
ClinVar Annotator: match by OMIM:300857
OMIM
ClinVar
PMID:21857683, PMID:24771548, PMID:25333069, PMID:25616961, PMID:25741868, PMID:26075709, PMID:28492532 NCBI chr  X:153,498,232...153,501,562
Ensembl chr  X:153,498,227...153,501,570
JBrowse link
amyotrophic lateral sclerosis type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 16, juvenile
ClinVar Annotator: match by OMIM:614373
OMIM
ClinVar
PMID:21842496, PMID:24088041, PMID:25704016, PMID:25741868, PMID:26205306, PMID:26633545, PMID:28492532 NCBI chr 4:41,738,493...41,741,359
Ensembl chr 4:41,738,493...41,756,157
JBrowse link
amyotrophic lateral sclerosis type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 17
ClinVar Annotator: match by OMIM:614696
OMIM
ClinVar
PMID:16431024, PMID:16807408, PMID:16941655, PMID:20352044, PMID:20592581, PMID:21222599, PMID:25741868, PMID:26836416, PMID:28430856, PMID:28492532, PMID:29431110, PMID:29525180 NCBI chr16:65,539,128...65,562,762
Ensembl chr16:65,539,128...65,562,726
JBrowse link
amyotrophic lateral sclerosis type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pfn1 profilin 1 ISO ClinVar Annotator: match by OMIM:614808 OMIM
ClinVar
PMID:22801503 NCBI chr11:70,651,844...70,656,799
Ensembl chr11:70,651,850...70,654,644
JBrowse link
amyotrophic lateral sclerosis type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 19
ClinVar Annotator: match by OMIM:615515
OMIM
ClinVar
PMID:24119685, PMID:25741868 NCBI chr 1:68,031,884...69,108,576
Ensembl chr 1:68,032,186...69,108,059
JBrowse link
amyotrophic lateral sclerosis type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 20 OMIM
ClinVar
PMID:23455423 NCBI chr15:103,239,943...103,246,698
Ensembl chr15:103,240,432...103,246,692
JBrowse link
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 21
ClinVar Annotator: match by term: Myopathy, distal, 2
ClinVar Annotator: match by OMIM:606070
OMIM
ClinVar
PMID:9837826, PMID:19344878, PMID:24686783, PMID:25154462, PMID:25185957, PMID:25677933, PMID:25741868, PMID:25771394, PMID:25952333, PMID:26467025, PMID:26493020, PMID:26528920, PMID:26780671, PMID:28492532, PMID:29525178 NCBI chr18:35,562,158...35,592,045
Ensembl chr18:35,562,138...35,593,835
JBrowse link
amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by OMIM:616208 OMIM
ClinVar
PMID:25374358 NCBI chr 1:75,214,972...75,221,261
Ensembl chr 1:75,214,228...75,219,865
JBrowse link
amyotrophic lateral sclerosis type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa11 annexin A11 ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 23 ClinVar
OMIM
PMID:28469040 NCBI chr14:25,842,127...25,886,804
Ensembl chr14:25,842,156...25,886,804
Ensembl chr14:25,842,156...25,886,804
Ensembl chr14:25,842,156...25,886,804
JBrowse link
Amyotrophic Lateral Sclerosis Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek1 NIMA (never in mitosis gene a)-related expressed kinase 1 susceptibility ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 ClinVar
OMIM
PMID:21211617, PMID:22499340, PMID:23757202, PMID:24033266, PMID:25741868, PMID:26945885, PMID:27455347, PMID:28089114, PMID:28123176, PMID:28492532, PMID:29068549 NCBI chr 8:60,993,157...61,131,349
Ensembl chr 8:60,993,195...61,131,346
JBrowse link
Amyotrophic Lateral Sclerosis Type 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 ClinVar
OMIM
PMID:29342275, PMID:29566793 NCBI chr10:127,225,695...127,266,348
Ensembl chr10:127,225,696...127,263,348
JBrowse link
amyotrophic lateral sclerosis type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fus fused in sarcoma ISO
IEA
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
OMIM:608030
DNA:mutations:cds:
ClinVar Annotator: match by OMIM:608030
OMIM
ClinVar
MouseDO
PMID:12840784, PMID:12858291, PMID:19251627, PMID:19251628, PMID:19450904, PMID:19741215, PMID:19861302, PMID:20018407, PMID:20124201, PMID:20138404, PMID:20142531, PMID:20385912, PMID:20544928, PMID:20577002, PMID:20579074, PMID:20606625, PMID:20660363, PMID:20668259, PMID:20668261, PMID:20699327, PMID:21158017, PMID:21261515, PMID:21280085, PMID:21604077, PMID:21881207, PMID:21907581, PMID:21943958, PMID:21949354, PMID:22055719, PMID:22292843, PMID:22340366, PMID:22645277, PMID:22722621, PMID:22863194, PMID:22980027, PMID:23046859, PMID:23056579, PMID:23085990, PMID:23577159, PMID:23731953, PMID:23834483, PMID:23881933, PMID:24033266, PMID:24080306, PMID:24204307, PMID:24262168, PMID:24280224, PMID:24439481, PMID:24899262, PMID:24908169, PMID:25173930, PMID:25274782, PMID:25289647, PMID:25324524, PMID:25382069, PMID:25457557, PMID:25585530, PMID:25625564, PMID:25631824, PMID:25741868, PMID:26251528, PMID:26452761, PMID:26467025, PMID:26601740, PMID:26725112, PMID:26795035, PMID:27123482, PMID:28273913, PMID:28492532, PMID:28642336, PMID:30279455, PMID:30349096, PMID:30879340, PMID:19251628 RGD:9685712 NCBI chr 7:127,966,789...127,982,032
Ensembl chr 7:127,967,457...127,985,701
JBrowse link
amyotrophic lateral sclerosis type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5e ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 2:174,461,075...174,464,101
Ensembl chr 2:174,461,072...174,464,105
JBrowse link
G Ctsz cathepsin Z ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 2:174,427,494...174,439,039
Ensembl chr 2:174,427,493...174,439,039
JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 2:174,760,619...174,784,042
Ensembl chr 2:174,760,619...174,784,042
JBrowse link
G Gnas GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 2:174,284,320...174,346,744
Ensembl chr 2:174,284,320...174,346,744
JBrowse link
G Gnasas1 GNAS antisense RNA 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 2:174,281,237...174,295,436
Ensembl chr 2:174,281,237...174,295,436
JBrowse link
G Mir296 microRNA 296 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 2:174,267,047...174,267,125
Ensembl chr 2:174,267,047...174,267,125
JBrowse link
G Mir298 microRNA 298 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 2:174,267,504...174,267,585
Ensembl chr 2:174,267,504...174,267,585
JBrowse link
G Nelfcd negative elongation factor complex member C/D, Th1l ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 2:174,415,804...174,427,505
Ensembl chr 2:174,415,804...174,427,502
JBrowse link
G Npepl1 aminopeptidase-like 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 2:174,110,338...174,122,702
Ensembl chr 2:174,110,349...174,123,070
JBrowse link
G Prelid3b PRELI domain containing 3B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 2:174,465,076...174,473,000
Ensembl chr 2:174,465,067...174,473,081
JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 2:174,076,260...174,099,771
Ensembl chr 2:174,076,308...174,099,771
JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 2:174,450,595...174,458,380
Ensembl chr 2:174,450,695...174,457,882
JBrowse link
G Vapb vesicle-associated membrane protein, associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8
ClinVar Annotator: match by OMIM:608627
OMIM
ClinVar
PMID:15372378, PMID:16187141, PMID:16967488, PMID:17804640, PMID:18322265, PMID:18677189, PMID:19183264, PMID:20008544, PMID:20377183, PMID:20447143, PMID:20577002, PMID:20940299, PMID:21275991, PMID:21685205, PMID:21933185, PMID:22131369, PMID:22258555, PMID:22454507, PMID:22878164, PMID:23333387, PMID:23446633, PMID:23771029, PMID:23971766, PMID:24212516, PMID:24681403, PMID:25741868, PMID:26362251, PMID:26467025, PMID:26566915, PMID:27978769, PMID:28492532 NCBI chr 2:173,737,571...173,784,336
Ensembl chr 2:173,737,511...173,784,339
JBrowse link
G Zfp831 zinc finger protein 831 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 2:174,598,682...174,710,832
Ensembl chr 2:174,643,534...174,710,832
JBrowse link
amyotrophic lateral sclerosis type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin, ribonuclease, RNase A family, 5 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
ClinVar Annotator: match by OMIM:611895
OMIM
ClinVar
PMID:16501576, PMID:17462671, PMID:17703939, PMID:17886298, PMID:17900154, PMID:18087731, PMID:18852347, PMID:19153377, PMID:19363631, PMID:19444281, PMID:19449021, PMID:19488901, PMID:20577002, PMID:22190368, PMID:22292843, PMID:22384259, PMID:22499346, PMID:22522484, PMID:22645277, PMID:23047679, PMID:23155438, PMID:23447461, PMID:23463871, PMID:23665167, PMID:25382069, PMID:25741868, PMID:26255299, PMID:26467025, PMID:28444446, PMID:28492532 NCBI chr14:51,091,077...51,102,009
Ensembl chr14:51,091,150...51,102,009
JBrowse link
G Rnase4 ribonuclease, RNase A family 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 9
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
ClinVar PMID:16501576, PMID:17462671, PMID:17703939, PMID:17886298, PMID:17900154, PMID:18087731, PMID:18852347, PMID:19153377, PMID:19363631, PMID:19444281, PMID:19449021, PMID:19488901, PMID:20577002, PMID:22190368, PMID:22292843, PMID:22384259, PMID:22499346, PMID:22522484, PMID:22645277, PMID:23047679, PMID:23155438, PMID:23447461, PMID:23463871, PMID:23665167, PMID:25382069, PMID:25741868, PMID:26255299, PMID:26467025, PMID:28444446, PMID:28492532 NCBI chr14:51,091,077...51,106,151
Ensembl chr14:51,091,077...51,106,151
JBrowse link
Amyotrophic Lateral Sclerosis, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar PMID:28492532 NCBI chr 1:59,162,756...59,237,231
Ensembl chr 1:59,162,926...59,237,231
JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar NCBI chr 2:5,020,521...5,064,399
Ensembl chr 2:5,020,642...5,064,051
JBrowse link
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinson disease (autosomal recessive, early onset) 7 ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 4:150,897,133...150,909,921
Ensembl chr 4:150,897,133...150,914,437
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 susceptibility
no_association
ISO DNA:mutation:cds: p.T1482I (human)
CTD Direct Evidence: marker/mechanism
CTD
OMIM
PMID:16051700, PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr 2:126,791,558...126,876,261
Ensembl chr 2:126,791,565...126,876,230
JBrowse link
Angiomatoid Fibrous Histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb1 cAMP responsive element binding protein 1 ISO OMIM NCBI chr 1:64,532,794...64,604,548
Ensembl chr 1:64,532,645...64,604,548
JBrowse link
antisynthetase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta ISO ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
ARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO
IEA
CTD Direct Evidence: marker/mechanism
OMIM:208085 | OMIM:613404
CTD
MouseDO
PMID:20190753 NCBI chr12:87,238,875...87,266,378
Ensembl chr12:87,238,868...87,266,256
JBrowse link
G Vps33b vacuolar protein sorting 33B ISO
IEA
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD Direct Evidence: marker/mechanism
OMIM:208085 | OMIM:613404
ClinVar
CTD
MouseDO
PMID:25741868 NCBI chr 7:80,269,621...80,291,579
Ensembl chr 7:80,269,649...80,291,754
JBrowse link
Arthrogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg6 adhesion G protein-coupled receptor G6 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:26004201, PMID:26752647 NCBI chr10:14,402,583...14,545,723
Ensembl chr10:14,402,583...14,545,659
JBrowse link
G Chrng cholinergic receptor, nicotinic, gamma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16826520, PMID:16826531 NCBI chr 1:87,205,811...87,211,835
Ensembl chr 1:87,204,657...87,212,694
JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:23236030, PMID:23261301, PMID:24782201, PMID:25099528, PMID:25708584, PMID:25741868 NCBI chr 1:87,142,874...87,157,085
Ensembl chr 1:87,147,655...87,156,521
JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr14:32,513,291...32,580,990
Ensembl chr14:32,513,521...32,580,990
JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:30311386 NCBI chr12:49,382,883...49,386,867
Ensembl chr12:49,382,660...49,386,861
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:149,176,319...149,307,773
Ensembl chr 4:149,176,319...149,307,693
JBrowse link
G Myh3 myosin, heavy polypeptide 3, skeletal muscle, embryonic ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 NCBI chr11:67,078,273...67,102,291
Ensembl chr11:67,078,300...67,102,291
JBrowse link
G Myh8 myosin, heavy polypeptide 8, skeletal muscle, perinatal ISO Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q RGD PMID:15282353 RGD:1600548 NCBI chr11:67,277,124...67,308,634
Ensembl chr11:67,277,124...67,308,634
JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:31260566 NCBI chr 7:46,376,474...46,379,092
Ensembl chr 7:46,376,474...46,379,099
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:8423615, PMID:11152147, PMID:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:31680123 NCBI chr18:63,010,213...63,387,716
Ensembl chr18:63,010,213...63,387,183
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:20839240, PMID:21911697, PMID:22473935, PMID:25658027, PMID:25735680, PMID:25741868, PMID:28492532, PMID:30311386, PMID:31680123 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:20220177, PMID:21291453, PMID:25741868, PMID:26392352, PMID:26794302, PMID:28492532, PMID:30311386 NCBI chr18:61,952,928...62,015,719
Ensembl chr18:61,953,075...62,024,402
JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO DNA:mutation:splice junction: RGD PMID:19542096 RGD:13209012 NCBI chr10:5,020,192...5,550,692
Ensembl chr10:5,020,917...5,551,482
JBrowse link
G Tnni2 troponin I, skeletal, fast 2 ISO distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal
ClinVar PMID:25741868, PMID:12592607 RGD:1599481 NCBI chr 7:142,441,816...142,444,410
Ensembl chr 7:142,441,808...142,444,410
JBrowse link
G Tnnt3 troponin T3, skeletal, fast ISO distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita
ClinVar PMID:25741868, PMID:28492532, PMID:12865991 RGD:1599490 NCBI chr 7:142,498,771...142,516,213
Ensembl chr 7:142,498,836...142,516,009
JBrowse link
G Tpm2 tropomyosin 2, beta ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:11738357, PMID:23757202, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765
JBrowse link
G Vps33b vacuolar protein sorting 33B ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 7:80,269,621...80,291,579
Ensembl chr 7:80,269,649...80,291,754
JBrowse link
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018, PMID:24195946, PMID:25741868, PMID:28492532, PMID:30611313 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
JBrowse link
Arthrogryposis Multiplex Congenita 3, Myogenic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 (alpha) ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE ClinVar PMID:27782104 NCBI chr10:4,611,989...5,005,633
Ensembl chr10:4,611,593...5,005,614
JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE
OMIM
ClinVar
PMID:19542096, PMID:24319099, PMID:25741868, PMID:26467025, PMID:27782104, PMID:28492532 NCBI chr10:5,020,192...5,550,692
Ensembl chr10:5,020,917...5,551,482
JBrowse link
Arthrogryposis Multiplex Congenita 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A (torsin A) ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 ClinVar
OMIM
PMID:25741868, PMID:28516161, PMID:29053766, PMID:30244176 NCBI chr 2:30,960,561...30,967,918
Ensembl chr 2:30,960,627...30,967,933
JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3, catalytic subunit, alpha isoform ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar
OMIM
PMID:29432562 NCBI chr 3:136,669,714...136,937,727
Ensembl chr 3:136,670,124...136,937,727
JBrowse link
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc35a3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3 ISO ClinVar Annotator: match by term: Arthrogryposis, mental retardation, and seizures
ClinVar Annotator: match by OMIM:615553
OMIM
ClinVar
PMID:24031089, PMID:25741868, PMID:28492532, PMID:28777481 NCBI chr 3:116,669,469...116,712,708
Ensembl chr 3:116,669,470...116,712,831
JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA (never in mitosis gene a)-related expressed kinase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy ClinVar
OMIM
PMID:26633546 NCBI chr12:85,299,514...85,339,362
Ensembl chr12:85,299,514...85,339,362
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868, PMID:31319225 NCBI chr12:87,238,875...87,266,378
Ensembl chr12:87,238,868...87,266,256
JBrowse link
G Vps33b vacuolar protein sorting 33B ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM
ClinVar
PMID:8151641, PMID:11668108, PMID:15052268, PMID:16896922, PMID:17994566, PMID:18853461, PMID:19274792, PMID:21851503, PMID:22753090, PMID:24782640, PMID:24917129, PMID:25741868, PMID:28492532, PMID:31479177 NCBI chr 7:80,269,621...80,291,579
Ensembl chr 7:80,269,649...80,291,754
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 ClinVar
OMIM
PMID:20190753, PMID:25741868, PMID:28492532 NCBI chr12:87,238,875...87,266,378
Ensembl chr12:87,238,868...87,266,256
JBrowse link
autosomal dominant adult-onset proximal spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Adult proximal spinal muscular atrophy, autosomal dominant ClinVar PMID:25741868, PMID:28492532 NCBI chr 4:149,176,319...149,307,773
Ensembl chr 4:149,176,319...149,307,693
JBrowse link
G Vapb vesicle-associated membrane protein, associated protein B and C ISO ClinVar Annotator: match by term: Adult proximal spinal muscular atrophy, autosomal dominant
ClinVar Annotator: match by term: Spinal muscular atrophy, late-onset, finkel type
OMIM
ClinVar
PMID:15372378, PMID:16187141, PMID:16967488, PMID:17804640, PMID:18322265, PMID:18677189, PMID:19183264, PMID:20008544, PMID:20377183, PMID:20447143, PMID:20577002, PMID:21275991, PMID:21685205, PMID:21933185, PMID:22131369, PMID:22258555, PMID:22454507, PMID:22878164, PMID:23333387, PMID:23446633, PMID:23771029, PMID:23971766, PMID:24212516, PMID:24681403, PMID:25741868, PMID:26467025, PMID:26566915, PMID:27978769, PMID:28492532 NCBI chr 2:173,737,571...173,784,336
Ensembl chr 2:173,737,511...173,784,339
JBrowse link
autosomal dominant centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:31260566 NCBI chr 7:46,376,474...46,379,092
Ensembl chr 7:46,376,474...46,379,099
JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank progressive ankylosis ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar Annotator: match by OMIM:123000
OMIM
ClinVar
PMID:2712793, PMID:11326272, PMID:11326338, PMID:19449425, PMID:20358596, PMID:26467025, PMID:28492532, PMID:30311386, PMID:11326272 RGD:734571 NCBI chr15:27,466,677...27,594,909
Ensembl chr15:27,466,677...27,594,909
JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar PMID:2712793, PMID:11326272, PMID:11326338, PMID:19449425, PMID:20358596, PMID:28492532 NCBI chr15:27,597,055...27,630,977
Ensembl chr15:27,542,635...27,630,693
JBrowse link
autosomal dominant distal hereditary motor neuronopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:8114789, PMID:22628388, PMID:23664116, PMID:23664119, PMID:23664120, PMID:24336790, PMID:25497877, PMID:25741868, PMID:26467025, PMID:27549087, PMID:27784775, PMID:28251916, PMID:28492532, PMID:28832565, PMID:32581362 NCBI chr13:49,341,549...49,387,026
Ensembl chr13:49,341,585...49,387,026
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:12730604, PMID:20697106, PMID:21102439, PMID:22459677, PMID:25326635, PMID:25609763, PMID:25741868 NCBI chr12:110,601,395...110,666,944
Ensembl chr12:110,601,452...110,666,945
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr10:41,188,172...41,303,241
Ensembl chr10:41,188,172...41,303,260
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:17101916, PMID:22462675, PMID:25168514 NCBI chr 6:55,038,001...55,079,504
Ensembl chr 6:55,038,007...55,079,500
JBrowse link
G Ighmbp2 immunoglobulin mu binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:1461881, PMID:11528396, PMID:14506069, PMID:14681881, PMID:15108294, PMID:15797190, PMID:17431882, PMID:18802676, PMID:19157874, PMID:19158098, PMID:22157136, PMID:23449687, PMID:23566544, PMID:23929295, PMID:24022109, PMID:24033266, PMID:24342282, PMID:24388491, PMID:24922459, PMID:25439726, PMID:25454169, PMID:25568292, PMID:25741868, PMID:26298607, PMID:26467025, PMID:26709713, PMID:27450922, PMID:28492532, PMID:30311386 NCBI chr19:3,259,076...3,283,010
Ensembl chr19:3,259,076...3,283,017
JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:25886484, PMID:28492532 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Morc2a microrchidia 2A ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:26659848, PMID:28492532 NCBI chr11:3,649,189...3,690,477
Ensembl chr11:3,649,191...3,690,477
JBrowse link
G Nefl neurofilament, light polypeptide ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr14:68,083,863...68,089,095
Ensembl chr14:68,083,863...68,089,095
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:19696032, PMID:22088787, PMID:26467025, PMID:28492532 NCBI chr 2:29,123,588...29,182,471
Ensembl chr 2:29,124,181...29,182,471
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:1520078, PMID:8179305, PMID:10463355, PMID:15668982, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20460441, PMID:21115951, PMID:21288981, PMID:21454511, PMID:22065612, PMID:22291064, PMID:22526352, PMID:22702953, PMID:24319099, PMID:24789864, PMID:25741868, PMID:26048687, PMID:26467025, PMID:26948711, PMID:28492532 NCBI chr 5:114,622,152...114,658,435
Ensembl chr 5:114,622,152...114,658,421
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A ISO
IMP
ClinVar Annotator: match by term: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
DNA:frameshift mutation:cds:c.625_626delA (human)
DNA:deletion, missense mutation, snp:cds, intron:p.K208del, p.R377H, g.IVS9+5G>C (human)
DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar
OMIM
PMID:1839274, PMID:1849984, PMID:2280636, PMID:8619549, PMID:9106535, PMID:10080180, PMID:10612827, PMID:10655060, PMID:10662742, PMID:10739764, PMID:10814726, PMID:10939567, PMID:11138304, PMID:11503164, PMID:11561226, PMID:11731280, PMID:11792809, PMID:11901143, PMID:12032588, PMID:12057196, PMID:12075506, PMID:12196663, PMID:12628721, PMID:12629077, PMID:12649505, PMID:12673789, PMID:12748643, PMID:12920062, PMID:12927431, PMID:14597414, PMID:14615128, PMID:14627682, PMID:14659775, PMID:14684700, PMID:14749366, PMID:15053843, PMID:15140538, PMID:15148145, PMID:15205219, PMID:15372542, PMID:15475483, PMID:15668447, PMID:15744034, PMID:15998779, PMID:16174718, PMID:16218190, PMID:16386954, PMID:16440304, PMID:16772334, PMID:17136397, PMID:17274801, PMID:17377071, PMID:18035086, PMID:18396274, PMID:18414213, PMID:18549403, PMID:18551513, PMID:18551515, PMID:18564364, PMID:18604166, PMID:18646565, PMID:18795223, PMID:19084400, PMID:19318026, PMID:19424285, PMID:19427440, PMID:19432833, PMID:19524666, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19882644, PMID:19933576, PMID:20301609, PMID:20376791, PMID:20498703, PMID:20848652, PMID:20886652, PMID:20980393, PMID:21173262, PMID:21315846, PMID:21520333, PMID:21535365, PMID:21632249, PMID:21840938, PMID:22224630, PMID:22266370, PMID:22326558, PMID:22431096, PMID:22464770, PMID:22883396, PMID:22918509, PMID:23077635, PMID:23183350, PMID:23328570, PMID:23349452, PMID:23362510, PMID:23427149, PMID:23497705, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24237251, PMID:24349489, PMID:24375749, PMID:24503780, PMID:24508248, PMID:24642510, PMID:24656463, PMID:24721642, PMID:24768879, PMID:24806962, PMID:24846508, PMID:24990833, PMID:25214167, PMID:25286833, PMID:25324471, PMID:25326637, PMID:25637381, PMID:25741868, PMID:25823658, PMID:25948554, PMID:25982065, PMID:25987458, PMID:26098624, PMID:26165385, PMID:26183555, PMID:26332594, PMID:26443318, PMID:26467025, PMID:26602028, PMID:26752647, PMID:27220833, PMID:27532257, PMID:27585670, PMID:27717888, PMID:27723096, PMID:27813223, PMID:27854218, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28492532, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28785654, PMID:29040816, PMID:29057633, PMID:29149195, PMID:29237675, PMID:29676528, PMID:29753763, PMID:29791652, PMID:29893365, PMID:30055862, PMID:30165862, PMID:30311386, PMID:17446932, PMID:17701980, PMID:10814726, PMID:10080180 RGD:2306094, RGD:12791273, RGD:11062274, RGD:12791020 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 (alpha) ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr10:4,611,989...5,005,633
Ensembl chr10:4,611,593...5,005,614
JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
ClinVar Annotator: match by term: Emery-dreifuss muscular dystrophy 4, autosomal dominant
ClinVar
OMIM
PMID:17761684, PMID:18414213, PMID:21572417, PMID:22287014, PMID:23352163, PMID:23959263, PMID:24123366, PMID:24123876, PMID:24892279, PMID:25133958, PMID:25214167, PMID:25401298, PMID:25741868, PMID:25976027, PMID:26467025, PMID:26539891, PMID:26770814, PMID:26870756, PMID:27066551, PMID:27197992, PMID:27305979, PMID:28017257, PMID:28074886, PMID:28178086, PMID:28492532, PMID:28750076, PMID:29625556, PMID:29961767, PMID:30029642, PMID:30275942, PMID:30311386, PMID:30564623 NCBI chr10:5,020,192...5,550,692
Ensembl chr10:5,020,917...5,551,482
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syne2 spectrin repeat containing, nuclear envelope 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5
ClinVar Annotator: match by term: Emery-dreifuss muscular dystrophy 5, autosomal dominant
ClinVar
OMIM
PMID:17761684, PMID:18414213, PMID:22995991, PMID:25179549, PMID:25214167, PMID:25587064, PMID:25741868, PMID:26094658, PMID:26467025, PMID:27632638, PMID:28074886, PMID:28492532, PMID:28798025, PMID:30311386 NCBI chr12:75,818,318...76,110,928
Ensembl chr12:75,818,134...76,110,926
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant
ClinVar Annotator: match by OMIM:614302
OMIM
ClinVar
PMID:21391237, PMID:21636032, PMID:23812740, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:91,473,707...91,488,463
Ensembl chr 6:91,473,703...91,488,463
JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS
ClinVar Annotator: match by term: Myosin storage myopathy
DNA:missense mutation: :p.R1845W (23014C>T) (human)
OMIM
ClinVar
PMID:1430197, PMID:1552912, PMID:1638703, PMID:1944483, PMID:1975517, PMID:7581410, PMID:7662452, PMID:7731997, PMID:7848420, PMID:8186698, PMID:8254035, PMID:8268932, PMID:8533830, PMID:9105042, PMID:9140839, PMID:9826622, PMID:9835779, PMID:10024460, PMID:10065021, PMID:10328076, PMID:10521296, PMID:10725281, PMID:10750581, PMID:10882745, PMID:11133230, PMID:11186938, PMID:11447480, PMID:11498078, PMID:11723028, PMID:11861410, PMID:11861413, PMID:11968089, PMID:12081993, PMID:12379228, PMID:12707239, PMID:12818575, PMID:12820698, PMID:12975413, PMID:14520662, PMID:15010274, PMID:15136674, PMID:15358028, PMID:15483641, PMID:15528230, PMID:15556047, PMID:15563892, PMID:15699387, PMID:15757018, PMID:15769782, PMID:15856146, PMID:15858117, PMID:16115294, PMID:16137545, PMID:16199542, PMID:16253604, PMID:16267253, PMID:16630449, PMID:16858239, PMID:16918501, PMID:17118657, PMID:17125710, PMID:17336526, PMID:17438619, PMID:17476457, PMID:17560888, PMID:17612745, PMID:18029407, PMID:18374998, PMID:18383048, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18533079, PMID:18555187, PMID:18761664, PMID:18953637, PMID:19149795, PMID:19150014, PMID:19336582, PMID:19412328, PMID:19645038, PMID:19880069, PMID:20031618, PMID:20086309, PMID:20350521, PMID:20376763, PMID:20474083, PMID:20664766, PMID:20800588, PMID:20817590, PMID:20975235, PMID:21127202, PMID:21239446, PMID:21302287, PMID:21310275, PMID:21896538, PMID:21959974, PMID:22112859, PMID:22337857, PMID:22429680, PMID:22455086, PMID:22763267, PMID:22765922, PMID:22857948, PMID:22958901, PMID:23054336, PMID:23074333, PMID:23197161, PMID:23233322, PMID:23283745, PMID:23290139, PMID:23299917, PMID:23349452, PMID:23396983, PMID:23403236, PMID:23508784, PMID:23549607, PMID:23674513, PMID:23690394, PMID:23711808, PMID:23751935, PMID:23785128, PMID:23794396, PMID:23861362, PMID:24033266, PMID:24047955, PMID:24093860, PMID:24111713, PMID:24298987, PMID:24503780, PMID:24510615, PMID:24691700, PMID:24704860, PMID:24721642, PMID:24793961, PMID:25031304, PMID:25086479, PMID:25125180, PMID:25132132, PMID:25163446, PMID:25163546, PMID:25342278, PMID:25351510, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25649125, PMID:25714468, PMID:25741868, PMID:25937619, PMID:26220970, PMID:26332594, PMID:26458567, PMID:26467025, PMID:26497160, PMID:26573135, PMID:26688388, PMID:26743238, PMID:26914223, PMID:26936621, PMID:26969327, PMID:27082122, PMID:27153395, PMID:27247418, PMID:27532257, PMID:27576561, PMID:27600940, PMID:27707468, PMID:27737317, PMID:27831900, PMID:27841901, PMID:27854218, PMID:27974200, PMID:28138913, PMID:28193612, PMID:28241245, PMID:28356264, PMID:28408708, PMID:28420666, PMID:28481356, PMID:28492532, PMID:28518168, PMID:28588093, PMID:28606303, PMID:28615295, PMID:28790153, PMID:28798025, PMID:28878402, PMID:29121657, PMID:29212898, PMID:29300372, PMID:30297972, PMID:30311386, PMID:30511546, PMID:30871747, PMID:31333075, PMID:31568572, PMID:14520662 RGD:12792959 NCBI chr14:54,970,684...54,994,626
Ensembl chr14:54,970,684...54,994,626
JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1E
ClinVar Annotator: match by OMIM:603511
OMIM
ClinVar
PMID:9973293, PMID:10489050, PMID:20682716, PMID:21376592, PMID:22334415, PMID:22366786, PMID:24033266, PMID:24594375, PMID:24920671, PMID:25741868, PMID:26205529, PMID:26371419, PMID:26467025, PMID:26847086, PMID:27642634, PMID:27671536, PMID:28233300, PMID:28492532, PMID:28794355, PMID:30564623 NCBI chr 5:29,735,898...29,786,478
Ensembl chr 5:29,735,688...29,818,134
JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnpo3 transportin 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F OMIM
ClinVar
PMID:11222786, PMID:23543484, PMID:23667635, PMID:25741868, PMID:28492532 NCBI chr 6:29,540,827...29,609,858
Ensembl chr 6:29,540,827...29,609,887
JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:15367920, PMID:24647604, PMID:25741868, PMID:28492532 NCBI chr 5:100,033,577...100,039,936
Ensembl chr 5:100,033,577...100,039,664
JBrowse link
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 OMIM
ClinVar
PMID:9150160, PMID:10330340, PMID:18055493, PMID:19556129, PMID:22443334, PMID:26467025, PMID:27259757, PMID:28492532, PMID:28602176, PMID:28881388 NCBI chr 2:120,463,593...120,504,919
Ensembl chr 2:120,463,572...120,504,918
Ensembl chr 2:120,463,572...120,504,918
JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 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 7:79,392,312...79,450,266
Ensembl chr 7:79,391,929...79,450,264
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
ClinVar Annotator: match by OMIM:157640
OMIM
ClinVar
PMID:632821, PMID:2067633, PMID:2725645, PMID:11431686, PMID:11571332, PMID:11897778, PMID:12073019, PMID:12210792, PMID:12565911, PMID:12872260, PMID:14467368, PMID:14557557, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15534189, 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:16929381, PMID:16940310, PMID:16943369, PMID:17088268, PMID:17420318, 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:19629138, PMID:19752458, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20220442, PMID:20227526, PMID:20301791, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20981092, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22006280, PMID:22189570, PMID:22237560, 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:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23545419, PMID:23783014, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24331360, PMID:24508722, PMID:24725338, PMID:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25488682, PMID:25585994, PMID:25741868, PMID:25850945, PMID:26095671, PMID:26104464, PMID:26357557, PMID:26467025, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:26968897, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28284481, PMID:28337550, PMID:28471437, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:28837072, PMID:28901595, PMID:29029963, PMID:29190809, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:29992832, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ClinVar PMID:25741868 NCBI chr19:45,005,663...45,012,764
Ensembl chr19:45,005,663...45,012,762
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
ClinVar Annotator: match by OMIM:609283
OMIM
ClinVar
PMID:8644740, PMID:10364542, PMID:10926541, PMID:11756613, PMID:12112115, PMID:25741868, PMID:28492532 NCBI chr 8:46,207,168...46,211,062
Ensembl chr 8:46,206,797...46,211,284
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by OMIM:609286
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
ClinVar
OMIM
PMID:1634620, PMID:10522883, PMID:11431692, PMID:12163192, PMID:15668446, PMID:17614277, PMID:19353676, PMID:19513767, PMID:20479361, PMID:20659899, PMID:21689831, PMID:24018892, PMID:25355836, PMID:25741868, PMID:26206283, PMID:26467025, PMID:27551684, PMID:28492532, PMID:28812649, PMID:29458409 NCBI chr19:45,005,663...45,012,764
Ensembl chr19:45,005,663...45,012,762
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ClinVar PMID:16685652, PMID:21555342, PMID:22155748, PMID:22176657, PMID:23197651, PMID:23596069, PMID:24033266, PMID:25741868, PMID:26123486, PMID:26251896, PMID:27535533 NCBI chr11:106,750,646...106,768,794
Ensembl chr11:106,751,226...106,768,794
JBrowse link
G Polg2 polymerase (DNA directed), gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
ClinVar Annotator: match by OMIM:610131
OMIM
ClinVar
PMID:16685652, PMID:21555342, PMID:22155748, PMID:22176657, PMID:23197651, PMID:23596069, PMID:24033266, PMID:25741868, PMID:26123486, PMID:26251896, PMID:27535533, PMID:28492532 NCBI chr11:106,768,204...106,779,537
Ensembl chr11:106,768,253...106,779,537
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase M2 B (TP53 inducible) ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
ClinVar Annotator: match by OMIM:613077
OMIM
ClinVar
PMID:19664747, PMID:21646632, PMID:26467025, PMID:28492532, PMID:28812649 NCBI chr15:37,923,952...37,961,119
Ensembl chr15:37,923,952...37,961,318
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dna2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6
ClinVar Annotator: match by OMIM:615156
OMIM
ClinVar
PMID:23352259, PMID:25741868 NCBI chr10:62,946,983...62,974,188
Ensembl chr10:62,947,026...62,974,185
JBrowse link
autosomal recessive centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bin1 bridging integrator 1 ISO ClinVar Annotator: match by OMIM:255200
ClinVar Annotator: match by term: Autosomal recessive centronuclear myopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive
ClinVar
CTD
PMID:17676042, PMID:18414213, PMID:20142620, PMID:22912834, PMID:22960267, PMID:24033266, PMID:24549043, PMID:24755653, PMID:25262827, PMID:25741868, PMID:26101835, PMID:26467025, PMID:28492532, PMID:29103045, PMID:29950440 NCBI chr18:32,376,618...32,435,740
Ensembl chr18:32,377,230...32,435,737
JBrowse link
G Speg SPEG complex locus ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:75,375,297...75,432,320
Ensembl chr 1:75,375,297...75,432,320
JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive type OMIM
ClinVar
PMID:11146471, PMID:23951358, PMID:25741868 NCBI chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
JBrowse link
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive
ClinVar
OMIM
PMID:2007407, PMID:10587585, PMID:10655060, PMID:10739751, PMID:10739764, PMID:10810087, PMID:10868844, PMID:10999791, PMID:10999845, PMID:11078466, PMID:11136544, PMID:11792809, PMID:12927424, PMID:15205219, PMID:16181372, PMID:16364671, PMID:16415042, PMID:18414213, PMID:18728124, PMID:19011997, PMID:19201734, PMID:19418082, PMID:19859838, PMID:20130076, PMID:20625965, PMID:22224630, PMID:22266370, PMID:22431096, PMID:22464770, PMID:22700598, PMID:23183350, PMID:23313286, PMID:23427149, PMID:23853504, PMID:23861362, PMID:24033266, PMID:24503780, PMID:24846508, PMID:25741868, PMID:26467025, PMID:26602028, PMID:26662654, PMID:27532257, PMID:27585670, PMID:27723096, PMID:28492532, PMID:29149195, PMID:29237675, PMID:30165862, PMID:30311386 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
autosomal recessive hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Myopathy, myosin storage, autosomal recessive OMIM
ClinVar
PMID:1430197, PMID:1552912, PMID:1638703, PMID:1944483, PMID:1975517, PMID:7581410, PMID:7662452, PMID:7731997, PMID:7848420, PMID:8186698, PMID:8254035, PMID:8268932, PMID:9105042, PMID:9140839, PMID:9826622, PMID:9835779, PMID:10024460, PMID:10065021, PMID:10328076, PMID:10521296, PMID:10725281, PMID:10750581, PMID:10882745, PMID:11133230, PMID:11186938, PMID:11447480, PMID:11498078, PMID:11723028, PMID:11861410, PMID:11861413, PMID:11968089, PMID:12081993, PMID:12707239, PMID:12818575, PMID:12820698, PMID:12975413, PMID:14659406, PMID:15010274, PMID:15136674, PMID:15358028, PMID:15483641, PMID:15528230, PMID:15563892, PMID:15856146, PMID:15858117, PMID:16199542, PMID:16267253, PMID:16630449, PMID:16858239, PMID:16918501, PMID:17125710, PMID:17372140, PMID:17438619, PMID:17560888, PMID:17612745, PMID:18029407, PMID:18374998, PMID:18383048, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18533079, PMID:18761664, PMID:19150014, PMID:19336582, PMID:19880069, PMID:20031618, PMID:20350521, PMID:20513729, PMID:20800588, PMID:21239446, PMID:21310275, PMID:21896538, PMID:21959974, PMID:22112859, PMID:22429680, PMID:22455086, PMID:22857948, PMID:22958901, PMID:23054336, PMID:23197161, PMID:23233322, PMID:23283745, PMID:23290139, PMID:23299917, PMID:23396983, PMID:23403236, PMID:23549607, PMID:23674513, PMID:23690394, PMID:23711808, PMID:23751935, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24047955, PMID:24093860, PMID:24111713, PMID:24298987, PMID:24503780, PMID:24510615, PMID:24691700, PMID:24704860, PMID:24793961, PMID:25031304, PMID:25132132, PMID:25351510, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25666907, PMID:25714468, PMID:25741868, PMID:25937619, PMID:26468400, PMID:26573135, PMID:26743238, PMID:26914223, PMID:26936621, PMID:26969327, PMID:27066506, PMID:27082122, PMID:27153395, PMID:27247418, PMID:27532257, PMID:27600940, PMID:27737317, PMID:27831900, PMID:27841901, PMID:27974200, PMID:28125727, PMID:28138913, PMID:28193612, PMID:28241245, PMID:28408708, PMID:28420666, PMID:28481356, PMID:28492532, PMID:28518168, PMID:28606303, PMID:28615295, PMID:28771489, PMID:28790153, PMID:28807990, PMID:28973424, PMID:29121657, PMID:29212898, PMID:29300372, PMID:30297972, PMID:30511546, PMID:31333075, PMID:31568572 NCBI chr14:54,970,684...54,994,626
Ensembl chr14:54,970,684...54,994,626
JBrowse link
autosomal recessive limb-girdle muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:18414213, PMID:23606453, PMID:24022920, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:31395899 NCBI chr 7:51,510,007...51,598,707
Ensembl chr 7:51,511,029...51,598,709
JBrowse link
G Astn2 astrotactin 2 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 4:65,380,803...66,404,537
Ensembl chr 4:65,380,803...66,404,611
JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:7720071, PMID:9266733, PMID:10330340, PMID:10679950, PMID:12461690, PMID:14578192, PMID:14981715, PMID:15221789, PMID:15351423, PMID:15689361, PMID:15725583, PMID:16100770, PMID:16141003, PMID:16650086, PMID:17318636, PMID:18055493, PMID:18414213, PMID:18854868, PMID:18854869, PMID:19835634, PMID:20635405, PMID:21204801, PMID:21984748, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27142102, PMID:28492532, PMID:30311386 NCBI chr 2:120,463,593...120,504,919
Ensembl chr 2:120,463,572...120,504,918
Ensembl chr 2:120,463,572...120,504,918
JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:9536092, PMID:11251997, PMID:11884389, PMID:15580566, PMID:16770780, PMID:17060380, PMID:17210839, PMID:17275750, PMID:19380584, PMID:20472890, PMID:23465283, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26467025, PMID:26498160, PMID:27483260, PMID:27930701, PMID:28492532, PMID:29961767, PMID:30055862 NCBI chr 6:112,459,505...112,472,872
Ensembl chr 6:112,459,505...112,472,872
JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:12796534, PMID:14678801, PMID:15469449, PMID:17512949, PMID:18832576, PMID:18853459, PMID:19493611, PMID:20535123, PMID:22213072, PMID:22297152, PMID:24033266, PMID:24239059, PMID:24438169, PMID:24838345, PMID:25741868, PMID:25868377, PMID:25987458, PMID:26077327, PMID:26290895, PMID:26467025, PMID:27666772, PMID:28492532 NCBI chr 6:84,008,361...84,211,060
Ensembl chr 6:84,008,590...84,211,060
JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:11741828, PMID:12666124, PMID:14647208, PMID:15060126, PMID:15574464, PMID:15580560, PMID:15833432, PMID:15886712, PMID:16634037, PMID:16786213, PMID:17554798, PMID:18060779, PMID:18593008, PMID:18639457, PMID:19820980, PMID:19835634, PMID:19900540, PMID:21220724, PMID:21228398, PMID:22264518, PMID:22981120, PMID:23576288, PMID:23591631, PMID:24033266, PMID:24447024, PMID:25048216, PMID:25560911, PMID:25741868, PMID:26363967, PMID:26467025, PMID:26574668, PMID:26833294, PMID:28492532, PMID:30311386 NCBI chr 7:16,809,267...16,816,732
Ensembl chr 7:16,809,246...16,816,732
JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:12920062, PMID:15205219, PMID:15475483, PMID:15998779, PMID:17377071, PMID:18414213, PMID:18549403, PMID:18795223, PMID:19318026, PMID:19424285, PMID:19427440, PMID:19638735, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24721642, PMID:25741868, PMID:26467025, PMID:26602028, PMID:27896052, PMID:28492532, PMID:28679633, PMID:28785654, PMID:30311386 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:15466003, PMID:17869517, PMID:17906881, PMID:19299310, PMID:22323514, PMID:22554691, PMID:23894383, PMID:25741868, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386 NCBI chr 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:23757202, PMID:24033266, PMID:25741868 NCBI chr 2:32,236,590...32,255,005
Ensembl chr 2:32,236,590...32,255,005
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO DNA:missense mutation:exon:p.T184M, (c.551C>T) (human)
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar PMID:17923109 RGD:11532762 NCBI chr12:87,106,861...87,147,968
Ensembl chr12:87,106,861...87,147,968
JBrowse link
G Sacs sacsin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr14:61,138,421...61,240,693
Ensembl chr14:61,138,457...61,240,695
JBrowse link
G Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive ClinVar PMID:9032047, PMID:9192266, PMID:9585331, PMID:12746421, PMID:17994539, PMID:18285821, PMID:18421900, PMID:18996010, PMID:22095924, PMID:24033266, PMID:25135358, PMID:25741868, PMID:26404900, PMID:26453141, PMID:28492532 NCBI chr11:94,962,777...94,976,327
Ensembl chr11:94,962,791...94,976,327
JBrowse link
G Sgcb sarcoglycan, beta (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:7581449, PMID:9032047, PMID:10993494, PMID:15032976, PMID:15938573, PMID:19770540, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:73,632,749...73,647,737
Ensembl chr 5:73,632,749...73,647,790
JBrowse link
G Sgcd sarcoglycan, delta (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:10974018, PMID:12794684, PMID:18414213, PMID:23861362, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26968544, PMID:28401079, PMID:28492532 NCBI chr11:46,971,077...47,989,451
Ensembl chr11:46,896,253...47,988,969
JBrowse link
G Sgcg sarcoglycan, gamma (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr14:61,219,106...61,275,062
Ensembl chr14:61,219,115...61,258,490
JBrowse link
G Trim32 tripartite motif-containing 32 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 4:65,604,986...65,616,240
Ensembl chr 4:65,604,986...65,616,238
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:15466003, PMID:17869517, PMID:17906881, PMID:19299310, PMID:22323514, PMID:22554691, PMID:23894383, PMID:25741868, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386 NCBI chr 4:116,161,881...116,167,621
Ensembl chr 4:116,161,869...116,167,601
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:22335739, PMID:22526018, PMID:23396983, PMID:23861362, PMID:23975875, PMID:24033266, PMID:24503780, PMID:24892279, PMID:25163546, PMID:25589632, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28822653 NCBI chr 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama2 laminin, alpha 2 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 ClinVar
OMIM
PMID:9158149, PMID:21953594, PMID:22166137, PMID:24957499, PMID:25525159, PMID:25741868, PMID:26467025, PMID:27854218, PMID:28492532 NCBI chr10:26,981,285...27,617,191
Ensembl chr10:26,980,036...27,619,758
JBrowse link
G Trappc11 trafficking protein particle complex 11 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 ClinVar PMID:23830518, PMID:25741868, PMID:28492532, PMID:29158550, PMID:31575891 NCBI chr 8:47,490,128...47,533,470
Ensembl chr 8:47,490,115...47,533,470
JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt2 protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 ClinVar
OMIM
PMID:25741868, PMID:27066570 NCBI chr 9:121,981,606...121,996,053
Ensembl chr 9:121,981,606...121,997,110
JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Popdc3 popeye domain containing 3 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 OMIM
ClinVar
PMID:31610034 NCBI chr10:45,289,305...45,318,450
Ensembl chr10:45,178,098...45,318,452
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO
IEA
IMP
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A
ClinVar Annotator: match by term: Leyden-Moebius muscular dystrophy
ClinVar Annotator: match by term: Calpainopathy
OMIM:253600
ClinVar Annotator: match by OMIM:253600
OMIM
ClinVar
MouseDO
PMID:1691480, PMID:7318636, PMID:7720071, PMID:7762565, PMID:7795603, PMID:8624690, PMID:9150160, PMID:9246005, PMID:9266733, PMID:9452114, PMID:9642272, PMID:9655129, PMID:9762961, PMID:9771675, PMID:9777948, PMID:10102422, PMID:10330340, PMID:10567047, PMID:10679950, PMID:11053681, PMID:11166169, PMID:11245732, PMID:11297944, PMID:11371436, PMID:11525884, PMID:11731278, PMID:12461690, PMID:12890817, PMID:14578192, PMID:14645990, PMID:14981715, PMID:15138196, PMID:15221789, PMID:15351423, PMID:15689361, PMID:15725583, PMID:15733273, PMID:15843148, PMID:15884399, PMID:16001438, PMID:16100770, PMID:16141003, PMID:16372320, PMID:16411092, PMID:16542520, PMID:16607617, PMID:16627476, PMID:16650086, PMID:16971480, PMID:17157502, PMID:17236769, PMID:17258832, PMID:17318636, PMID:17526799, PMID:17562833, PMID:17702496, PMID:17897828, PMID:17979987, PMID:17994539, PMID:18055493, PMID:18073330, PMID:18258189, PMID:18334579, PMID:18337726, PMID:18414213, PMID:18563459, PMID:18854868, PMID:18854869, PMID:19015733, PMID:19048948, PMID:19156839, PMID:19226146, PMID:19285864, PMID:19364062, PMID:19556129, PMID:19835634, PMID:20044116, PMID:20517216, PMID:20580976, PMID:20635405, PMID:20694146, PMID:21172462, PMID:21204801, PMID:21288883, PMID:21386772, PMID:21520333, PMID:21624972, PMID:21896784, PMID:21984748, PMID:22006685, PMID:22057634, PMID:22079131, PMID:22158424, PMID:22378277, PMID:22443334, PMID:22505582, PMID:22926650, PMID:23169433, PMID:23553538, PMID:23666804, PMID:23677060, PMID:23757202, PMID:23821418, PMID:23864287, PMID:24033266, PMID:24715573, PMID:24803842, PMID:24846670, PMID:25046369, PMID:25079074, PMID:25135358, PMID:25214167, PMID:25215589, PMID:25252031, PMID:25326637, PMID:25512505, PMID:25525159, PMID:25741868, PMID:25987458, PMID:26060040, PMID:26301378, PMID:26404900, PMID:26467025, PMID:26484845, PMID:26501342, PMID:26583491, PMID:26632398, PMID:26677118, PMID:26810512, PMID:26886200, PMID:27011640, PMID:27020652, PMID:27023906, PMID:27055500, PMID:27066545, PMID:27066551, PMID:27066573, PMID:27081656, PMID:27142102, PMID:27234031, PMID:27259757, PMID:27262448, PMID:27363342, PMID:27431290, PMID:27447704, PMID:27500519, PMID:27558075, PMID:27671536, PMID:27708273, PMID:27854218, PMID:27884173, PMID:28300015, PMID:28403181, PMID:28492532, PMID:28602176, PMID:28881388, PMID:28915917, PMID:29685414, PMID:29797799, PMID:29970176, PMID:30028523, PMID:30056071, PMID:30107846, PMID:30311386, PMID:30323756, PMID:30564623, PMID:30919934, PMID:205172126, PMID:10814721 RGD:734687 NCBI chr 2:120,463,593...120,504,919
Ensembl chr 2:120,463,572...120,504,918
Ensembl chr 2:120,463,572...120,504,918
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A ClinVar PMID:25326637, PMID:25741868 NCBI chr 9:116,087,695...116,175,363
Ensembl chr 9:116,084,293...116,175,360
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868, PMID:31263448 NCBI chr 2:120,463,593...120,504,919
Ensembl chr 2:120,463,572...120,504,918
Ensembl chr 2:120,463,572...120,504,918
JBrowse link
G Dysf dysferlin ISO
IEA
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B
OMIM:253601
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:253601
OMIM
ClinVar
MouseDO
CTD
PMID:1483054, PMID:2764718, PMID:8808603, PMID:9731526, PMID:9731527, PMID:10196377, PMID:10766988, PMID:11053681, PMID:11468312, PMID:11532985, PMID:12471055, PMID:12796534, PMID:14673575, PMID:14678801, PMID:15293763, PMID:15469449, PMID:15477515, PMID:15535137, PMID:15827562, PMID:15835269, PMID:16010686, PMID:16087766, PMID:16100712, PMID:16606933, PMID:16705711, PMID:16891820, PMID:16934466, PMID:16996541, PMID:17070050, PMID:17287450, PMID:17331981, PMID:17562833, PMID:17698709, PMID:17825554, PMID:17828519, PMID:17897828, PMID:17994539, PMID:18276788, PMID:18294055, PMID:18306167, PMID:18392839, PMID:18832576, PMID:18853459, PMID:19015158, PMID:19084402, PMID:19154541, PMID:19493611, PMID:19528035, PMID:19953532, PMID:20301480, PMID:20497525, PMID:20535123, PMID:20544924, PMID:20558759, PMID:20623375, PMID:20817457, PMID:21173544, PMID:21522182, PMID:21816046, PMID:22057634, PMID:22174839, PMID:22194990, PMID:22246893, PMID:22297152, PMID:22318734, PMID:22616201, PMID:22849992, PMID:22995991, PMID:23185377, PMID:23243261, PMID:23254335, PMID:23406536, PMID:23519732, PMID:23530687, PMID:23641709, PMID:23757202, PMID:24033266, PMID:24123366, PMID:24488599, PMID:24838345, PMID:25135358, PMID:25143362, PMID:25312915, PMID:25326637, PMID:25493284, PMID:25574751, PMID:25591676, PMID:25591678, PMID:25741868, PMID:25783436, PMID:25807536, PMID:25821721, PMID:25868377, PMID:25898921, PMID:25900324, PMID:25987458, PMID:26000923, PMID:26060040, PMID:26088049, PMID:26273692, PMID:26404900, PMID:26436962,