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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 aladin WD repeat nucleoporin 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 chr27:1,889,078...1,900,097
Ensembl chr27:1,889,141...1,900,094
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 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530
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 chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
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:122,050,309...122,052,629
Ensembl chr  X:122,050,455...122,052,524
JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:25133958, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr31:5,742,744...6,010,881
Ensembl chr31:5,742,744...6,093,612
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:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659
JBrowse link
G GPI glucose-6-phosphate isomerase ISO Severe GPI deficiency with neurologic deficits DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P) RGD PMID:9856489 RGD:1600632 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316
JBrowse link
G LAMA2 laminin subunit 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 chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914
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 chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509
JBrowse link
G LMNA lamin A/C 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 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
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 chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451
JBrowse link
G PLP1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:30311386 NCBI chr  X:77,191,112...77,207,772
Ensembl chr  X:77,191,150...77,205,964
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 chr 5:38,806,731...38,839,002
Ensembl chr 5:38,807,826...38,838,971
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit 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 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 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 chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:30311386 NCBI chr  X:77,228,609...77,238,344
Ensembl chr  X:77,231,441...77,239,001
JBrowse link
G RYR1 ryanodine receptor 1 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 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
G SGCA sarcoglycan alpha 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 chr 9:26,164,784...26,178,249
Ensembl chr 9:26,164,863...26,174,864
JBrowse link
G SGCD sarcoglycan delta ISO ClinVar Annotator: match by term: Neuromuscular Diseases ClinVar PMID:24033266 NCBI chr 4:53,259,332...54,178,228
Ensembl chr 4:53,263,866...53,820,231
JBrowse link
G SOD1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:25741868, PMID:30311386 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Neuromuscular disease
ClinVar Annotator: match by term: Neuromuscular Diseases
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 chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165
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 chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
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 chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
JBrowse link
G XK X-linked Kx blood group ISO CTD Direct Evidence: marker/mechanism CTD PMID:8004674, PMID:8619554 NCBI chr  X:32,453,404...32,498,145
Ensembl chr  X:32,453,570...32,495,110
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-CoA carboxylase 1 ISO OMIM NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
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-CoA carboxylase 2 ISO OMIM NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
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-CoA carboxylase 1 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 chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO ClinVar Annotator: match by term: 3-MCC Deficiency ClinVar NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
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 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530
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 OMIM NCBI chr17:8,348,860...8,480,447
Ensembl chr17:8,348,886...8,478,863
JBrowse link
adult spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMN survival motor neuron ISO OMIM NCBI chr 2:54,596,000...54,636,837
Ensembl chr 2:54,596,008...54,636,804
JBrowse link
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO OMIM NCBI chr32:32,421,648...32,439,431
Ensembl chr32:32,421,675...32,439,131
JBrowse link
G MIR302D microRNA mir-302d ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr32:32,429,032...32,429,101
Ensembl chr32:32,429,032...32,429,101
JBrowse link
G MIR367 microRNA mir-367 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr32:32,428,905...32,428,972
Ensembl chr32:32,428,905...32,428,972
JBrowse link
Alcohol Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO RGD PMID:14506614 RGD:1581765 NCBI chr 6:18,384,981...18,400,038
Ensembl chr 6:18,385,007...18,400,036
JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC16A2 solute carrier family 16 member 2 ISO OMIM NCBI chr  X:57,845,865...57,859,827
Ensembl chr  X:57,845,488...57,857,518
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 chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
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 chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
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 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility ISO DNA:missense mutation:cds:p.P1073L (3218C>T) (human) OMIM
RGD
PMID:20142534 RGD:15039298 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr 3:52,260,872...52,282,532
Ensembl chr 3:52,260,944...52,282,134
JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway 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 chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G FOXO1 forkhead box O1 ISO OMIM NCBI chr25:603,433...706,961
Ensembl chr25:603,543...702,825
JBrowse link
G PAX3 paired box 3 ISO OMIM NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561
JBrowse link
G PAX7 paired box 7 ISO OMIM NCBI chr 2:79,813,835...79,952,490
Ensembl chr 2:79,815,748...79,915,003
JBrowse link
G TP73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
JBrowse link
G WWTR1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr23:44,277,707...44,409,911
Ensembl chr23:44,278,557...44,410,007
JBrowse link
alveolar soft part sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing ISO OMIM NCBI chr 9:308,017...331,238
Ensembl chr 9:307,028...331,243
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 mRNA:decreased expression:motor neuron: RGD PMID:20372915, PMID:22226999 RGD:10755336, RGD:13432092 NCBI chr31:38,715,529...38,799,353
Ensembl chr31:38,678,184...38,796,521
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO protein:increased expression:skeletal muscle RGD PMID:18273716 RGD:5509081 NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis RGD
ClinVar
PMID:11586297, PMID:25741868, PMID:28492532, PMID:28832565 RGD:1599080 NCBI chr37:10,755,595...10,825,073
Ensembl chr37:10,756,515...10,812,292
JBrowse link
G AOX2 aldehyde oxidase 2 ISO RGD PMID:7570184 RGD:734575 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319
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 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G AQP4 aquaporin 4 ISO protein:increased expression:brainstem
mRNA, protein:increased expression:spinal cord
RGD PMID:19089902, PMID:22987392 RGD:5490153, RGD:8662893 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G ATG5 autophagy related 5 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr12:63,565,859...63,692,383
Ensembl chr12:63,567,568...63,683,485
JBrowse link
G ATOX1 antioxidant 1 copper chaperone disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 4:57,599,927...57,611,863
Ensembl chr 4:57,600,005...57,611,862
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 chr26:9,073,667...9,188,429
Ensembl chr26:9,073,809...9,188,414
JBrowse link
G BAD BCL2 associated agonist of cell death disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405
JBrowse link
G BAK1 BCL2 antagonist/killer 1 treatment ISO RGD PMID:20890041 RGD:13506803 NCBI chr12:2,950,359...2,957,604
Ensembl chr12:2,948,364...2,957,018
JBrowse link
G BAX BCL2 associated X, apoptosis regulator severity
treatment
disease_progression
ISO RGD PMID:10582606, PMID:20195368, PMID:20890041, PMID:21193837, PMID:24699224 RGD:13506797, RGD:13506800, RGD:13506803, RGD:13506805, RGD:13506907 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BCL2L1 BCL2 like 1 disease_progression
treatment
ISO RGD PMID:10582606, PMID:18543336 RGD:13506902, RGD:13506907 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
JBrowse link
G BECN1 beclin 1 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236
JBrowse link
G BID BH3 interacting domain death agonist ISO RGD PMID:29440992 RGD:13506949 NCBI chr27:45,344,304...45,355,735
Ensembl chr27:45,337,145...45,384,059
JBrowse link
G BNIP3L BCL2 interacting protein 3 like ISO RGD PMID:29440992 RGD:13506949 NCBI chr25:31,133,512...31,149,750 JBrowse link
G BPTF bromodomain PHD finger transcription factor ISO mRNA,protein:increased expression:spinal cord: RGD PMID:9225734 RGD:9586057 NCBI chr 9:12,586,107...12,703,296
Ensembl chr 9:12,590,333...12,703,422
JBrowse link
G C11H9orf72 chromosome 11 C9orf72 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:27713094 NCBI chr11:45,664,942...45,688,777
Ensembl chr11:45,666,293...45,688,780
JBrowse link
G C3 complement C3 ISO RGD PMID:19050293 RGD:5130169 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G C5AR1 complement C5a receptor 1 ISO RGD PMID:19050293 RGD:5130169 NCBI chr 1:108,659,637...108,704,217
Ensembl chr 1:108,659,637...108,675,401
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
JBrowse link
G CAMK1G calcium/calmodulin dependent protein kinase IG ISO CTD Direct Evidence: marker/mechanism CTD PMID:23624525 NCBI chr 7:8,240,752...8,271,116
Ensembl chr 7:8,240,093...8,271,071
JBrowse link
G CAPN14 calpain 14 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28492532 NCBI chr17:24,774,603...24,812,719
Ensembl chr17:24,775,059...24,811,742
JBrowse link
G CASP12 caspase 12 ISO protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 5:27,162,840...27,176,964
Ensembl chr 5:27,161,700...27,177,683
JBrowse link
G CASP3 caspase 3 ISO protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
JBrowse link
G CASP9 caspase 9 ISO protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484
JBrowse link
G CCR2 C-C motif chemokine receptor 2 disease_progression ISO protein:decreased expression:monocyte:
protein:increased expression:plasma:
RGD PMID:16857270 RGD:8657363 NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
JBrowse link
G CCS copper chaperone for superoxide dismutase treatment ISO RGD PMID:26826269 RGD:13524551 NCBI chr18:50,748,039...50,759,270
Ensembl chr18:50,748,041...50,759,191
JBrowse link
G CD40LG CD40 ligand ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:20348957 RGD:5490547 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CDK5 cyclin dependent kinase 5 ISO RGD PMID:11343650 RGD:734741 NCBI chr16:15,105,177...15,113,085
Ensembl chr16:15,101,230...15,109,269
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 chr31:38,183,181...38,192,739
Ensembl chr31:38,183,188...38,196,113
JBrowse link
G CHMP2B charged multivesicular body protein 2B ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:Q206H, I29V (human)
CTD
RGD
PMID:16807408 RGD:5688711 NCBI chr31:789,586...817,925
Ensembl chr31:791,139...817,895
JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr13:38,330,287...38,343,142
Ensembl chr13:38,328,814...38,346,246
JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:7895015, PMID:18479385, PMID:22036597, PMID:25741868, PMID:28492532, PMID:29454195 NCBI chr24:47,024,948...47,036,507
Ensembl chr24:47,025,187...47,042,266
JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr13:38,312,537...38,327,242
Ensembl chr13:38,312,173...38,328,341
JBrowse link
G CNTF ciliary neurotrophic factor susceptibility ISO RGD PMID:11951178 RGD:734796 NCBI chr18:37,758,148...37,765,698 JBrowse link
G CRSP-3 calcitonin receptor-stimulating peptide 3 ISO RGD PMID:21964254 RGD:5684010 NCBI chr21:37,676,841...37,680,643
Ensembl chr21:37,676,841...37,680,645
JBrowse link
G CTSH cathepsin H ISO mRNA, protein:increased expression:spinal cord RGD PMID:17583678 RGD:5686391 NCBI chr 3:58,103,284...58,113,958
Ensembl chr 3:58,103,291...58,113,718
JBrowse link
G DAO D-amino acid oxidase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr26:18,032,663...18,057,277
Ensembl chr26:18,033,392...18,057,238
JBrowse link
G DBR1 debranching RNA lariats 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23104007 NCBI chr23:34,375,691...34,388,317
Ensembl chr23:34,376,228...34,388,263
JBrowse link
G DCTN1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
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 chr17:48,728,096...48,759,187
Ensembl chr17:48,728,270...48,759,147
JBrowse link
G DDX20 DEAD-box helicase 20 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr17:63,676,146...63,687,503
Ensembl chr17:63,676,452...63,687,506
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 chr 9:20,857,546...20,887,120
Ensembl chr 9:20,857,672...20,886,844
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO protein:decreased expression:mitochondrion: RGD PMID:24399935 RGD:9589066 NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902
JBrowse link
G DPP6 dipeptidyl peptidase like 6 no_association ISO DNA:SNP:intron:rs10260404 (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18084291, PMID:18708572, PMID:20137488 RGD:5687181, RGD:5687188 NCBI chr16:17,357,461...18,043,547
Ensembl chr16:17,357,522...18,041,822
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO protein:increased expression:spinal cord RGD PMID:12675919 RGD:2301741 NCBI chr17:29,494,641...29,537,933
Ensembl chr17:29,496,128...29,537,933
JBrowse link
G ELP3 elongator acetyltransferase complex subunit 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr25:29,415,229...29,507,159
Ensembl chr25:29,415,924...29,507,098
JBrowse link
G EPO erythropoietin disease_progression ISO protein:decreased expression:cerebrospinal fluid RGD PMID:17368721 RGD:10395391 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
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 chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426
JBrowse link
G EWSR1 EWS RNA binding protein 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr26:22,578,782...22,608,174
Ensembl chr26:22,578,848...22,608,174
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 chr12:66,508,801...66,632,830
Ensembl chr12:66,509,431...66,632,822
JBrowse link
G FUS FUS RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21408206, PMID:22055719, PMID:30455313 RGD:5509900, RGD:9685710 NCBI chr 6:17,059,904...17,071,227
Ensembl chr 6:17,060,061...17,071,178
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
JBrowse link
G GFAP glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11723166 NCBI chr 9:18,569,868...18,579,463
Ensembl chr 9:18,569,892...18,579,461
JBrowse link
G GJC2 gap junction protein gamma 2 ISO protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse) RGD PMID:24597481 RGD:13208591 NCBI chr14:810,388...819,248
Ensembl chr14:810,386...820,420
JBrowse link
G GLE1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28884921 NCBI chr 9:55,024,673...55,059,297
Ensembl chr 9:55,024,679...55,059,220
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 treatment ISO human protein in a rat model RGD PMID:26113413 RGD:13506239 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579
JBrowse link
G GRN granulin precursor onset
disease_progression
ISO DNA:mutations: :
protein:increased expression:spinal cord, microglia
RGD PMID:18184915, PMID:21107132 RGD:5509593, RGD:5509619 NCBI chr 9:19,077,430...19,085,443
Ensembl chr 9:19,077,427...19,082,268
JBrowse link
G GSK3A glycogen synthase kinase 3 alpha ISO RGD PMID:12675919 RGD:2301741 NCBI chr 1:112,129,116...112,138,714
Ensembl chr 1:112,103,825...112,138,559
JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO RGD PMID:12675919 RGD:2301741 NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666
JBrowse link
G GSR glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16681429 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16109392 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G HDAC4 histone deacetylase 4 severity ISO RGD PMID:23824486 RGD:9681450 NCBI chr25:49,318,621...49,545,314
Ensembl chr25:49,317,349...49,453,478
JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121
JBrowse link
G HMGB1 high mobility group box 1 severity ISO RGD PMID:23639787 RGD:10402056 NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165
JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K ISO protein:decreased expression:lumbar spinal cord ventral horn, astrocyte (mouse) RGD PMID:19323997 RGD:10058964 NCBI chr 1:75,499,334...75,511,525
Ensembl chr 1:75,499,393...75,511,425
JBrowse link
G HRK harakiri, BCL2 interacting protein ISO RGD PMID:29440992 RGD:13506949 NCBI chr26:13,481,095...13,501,276 JBrowse link
G IGF1R insulin like growth factor 1 receptor onset ISO mRNA:decreased expression:spinal cord (rat) RGD PMID:18683239 RGD:12904708 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO protein:increased expression:spinal cord, astrocyte RGD PMID:18441505 RGD:2311519 NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277
JBrowse link
G ITPR2 inositol 1,4,5-trisphosphate receptor type 2 susceptibility ISO DNA:snp:intron:g.26636386A>G rs2306677 (human) RGD PMID:17827064 RGD:6482791 NCBI chr27:20,806,670...21,278,638
Ensembl chr27:20,805,842...21,350,083
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO protein:decreased expression:brainstem RGD PMID:22987392 RGD:8662893 NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813
JBrowse link
G KDR kinase insert domain receptor ISO protein:decreased expression:spinal cord RGD PMID:16410746 RGD:1580568 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO mRNA:increased expression:primary motor cortex (human) RGD PMID:18957896 RGD:6893397 NCBI chr20:50,651,070...50,661,178
Ensembl chr20:50,650,711...50,658,496
JBrowse link
G KIF1B kinesin family member 1B onset ISO 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 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476
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 chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767
JBrowse link
G LOC100686073 metallothionein-1 ISO mRNA:increased expression:spinal cord (mouse) RGD PMID:16179515 RGD:6484130 NCBI chr 2:59,603,021...59,604,173 JBrowse link
G LRRK2 leucine rich repeat kinase 2 ISO mRNA:increased expression:skeletal muscle RGD PMID:21375368 RGD:5508417 NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870
JBrowse link
G MAML1 mastermind like transcriptional coactivator 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr11:1,915,622...1,927,598
Ensembl chr11:1,918,133...1,963,836
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr24:23,672,343...23,673,937
Ensembl chr24:23,633,579...23,673,921
JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr 1:29,107,813...29,306,437
Ensembl chr 1:29,108,591...29,306,503
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:19796283 RGD:7207054 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO protein:increased expression:skin of body, spinal cord
protein:increased expression:serum, cerebrospinal fluid (human)
RGD PMID:19796283, PMID:20441996 RGD:13204793, RGD:7207054 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord
RGD PMID:19796283, PMID:20441996 RGD:13204793, RGD:7207054 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MOBP myelin associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:27455348 NCBI chr23:9,121,277...9,176,128
Ensembl chr23:9,121,319...9,161,972
JBrowse link
G MSTN myostatin ISO RGD PMID:16837207 RGD:2303556 NCBI chr37:729,172...734,255
Ensembl chr37:729,172...734,362
JBrowse link
G MT2A metallothionein 1H onset ISO mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse) RGD PMID:18000159 RGD:6482832 NCBI chr 2:59,607,926...59,608,825
Ensembl chr 2:59,607,927...59,626,727
JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association
susceptibility
ISO DNA:polymorphism: :c.677C>T(human) RGD PMID:21128869, PMID:21868135 RGD:11565111, RGD:11565173 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MTNR1A melatonin receptor 1A disease_progression ISO protein:decreased expression:spinal chord RGD PMID:23537713 RGD:13524569 NCBI chr16:44,258,239...44,286,761 JBrowse link
G MTREX Mtr4 exosome RNA helicase ISO mRNA:increased expression:peripheral blood lymphocyte (human) RGD PMID:23006766 RGD:11041891 NCBI chr 2:42,660,448...42,763,133
Ensembl chr 2:42,660,653...42,763,133
JBrowse link
G NEFH neurofilament heavy treatment ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
DNA:deletions:cds:multiple (human)
RGD
ClinVar
PMID:9931323, PMID:10686419, PMID:25741868 RGD:1302518, RGD:13525000 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125
JBrowse link
G NEFL neurofilament light treatment
disease_progression
ISO protein:increased expression:serum, csf RGD PMID:10686419, PMID:26273687 RGD:13525000, RGD:13525006 NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
JBrowse link
G NEFM neurofilament medium ISO RGD PMID:16006557 RGD:9698444 NCBI chr25:32,493,517...32,498,615
Ensembl chr25:32,493,675...32,498,570
JBrowse link
G NEK1 NIMA related 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 chr25:20,297,190...20,528,537
Ensembl chr25:20,299,079...20,518,483
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 treatment ISO mRNA, protein:decreased expression:primary motor cortex, spinal cord (human) RGD PMID:18957896, PMID:22056419 RGD:10412690, RGD:6893397 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:spinal cord (mouse) RGD PMID:21867702 RGD:5509065 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G NOTCH1 notch receptor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
JBrowse link
G OPTN optineurin ISO DNA:missense mutations, nonsense mutation:cds, intron:multiple
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
protein:increased expression:spinal cord, neuron
DNA:deletion, missense mutation, nonsense mutation:exon:p.Q398X, p.E478G (human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:20428114, PMID:21059646, PMID:21613650, PMID:21825243, PMID:25096716, PMID:25741868 RGD:6480502, RGD:6480504, RGD:6480506 NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511
JBrowse link
G PARK7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:61,576,219...61,592,325
Ensembl chr 5:61,576,069...61,592,303
JBrowse link
G PFN1 profilin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 5:31,670,483...31,671,891
Ensembl chr 5:31,670,194...31,671,895
JBrowse link
G PGF placental growth factor ISO RGD PMID:22119626 RGD:6483573 NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170
JBrowse link
G PLA2G4A phospholipase A2 group IVA ISO CTD Direct Evidence: marker/mechanism CTD PMID:15816863 NCBI chr 7:19,804,412...19,955,215
Ensembl chr 7:19,832,664...19,966,936
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr20:52,327,547...52,349,006
Ensembl chr20:52,318,408...52,348,963
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 chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G PON2 paraoxonase 2 ISO DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2 RGD PMID:16822964 RGD:5509925 NCBI chr14:20,652,905...20,680,945
Ensembl chr14:20,652,905...20,680,980
JBrowse link
G PON3 paraoxonase 3 ISO DNA:SNP:intron:rs10487132, association with LD block containing both PON3 and PON2
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
RGD
ClinVar
PMID:16822964, PMID:25741868, PMID:28492532 RGD:5509925 NCBI chr14:20,615,180...20,642,807
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:decreased expression:motor cortex, muscle (human)
human gene in mouse model
mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse)
RGD PMID:22102466, PMID:23147503 RGD:6484265, RGD:7242019 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO protein:increased expression:spinal cord, astrocyte, microglia (mouse) RGD PMID:23118353 RGD:9999418 NCBI chr 1:107,486,399...107,490,151
Ensembl chr 1:107,486,438...107,489,222
JBrowse link
G PRPH peripherin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to
ClinVar PMID:15322088, PMID:15446584, PMID:25741868, PMID:28492532 NCBI chr27:5,314,815...5,320,270
Ensembl chr27:5,314,807...5,320,089
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:spinal cord, neuron, glia
CTD
RGD
PMID:11220737, PMID:14511332, PMID:15816863 RGD:5688235 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G PTPRZ1 protein tyrosine phosphatase receptor type Z1 treatment ISO RGD PMID:25113670 RGD:9590123 NCBI chr14:59,769,553...59,944,111
Ensembl chr14:59,827,650...59,943,315
JBrowse link
G RARA retinoic acid receptor alpha ISO RGD PMID:17956549 RGD:2314289 NCBI chr 9:22,254,803...22,298,614
Ensembl chr 9:22,254,806...22,289,459
JBrowse link
G RNASE4 ribonuclease, RNase A family, 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:17,981,661...17,998,644
Ensembl chr15:17,981,647...18,004,631
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:18000159 RGD:6482832 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
JBrowse link
G SARM1 sterile alpha and TIR motif containing 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 9:42,620,878...42,639,662
Ensembl chr 9:42,622,538...42,639,590
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 chr 8:9,970,724...10,077,123
Ensembl chr 8:9,970,790...10,077,122
JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:12067231 RGD:8554892 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833
JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24885036 NCBI chr11:51,310,672...51,313,426
Ensembl chr11:51,311,085...51,313,400
JBrowse link
G SIRT1 sirtuin 1 ISO protein:increased expression:spinal cord (mouse) RGD PMID:17581637 RGD:2290573 NCBI chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279
JBrowse link
G SLC11A2 solute carrier family 11 member 2 onset ISO DNA:SNP: :rs407135 (human) RGD PMID:21276595 RGD:5688710 NCBI chr27:3,788,785...3,823,852
Ensembl chr27:3,787,855...3,822,672
JBrowse link
G SLC1A2 solute carrier family 1 member 2 ISO CTD Direct Evidence: marker/mechanism
mRNA:processing errors:spinal cord, motor cortex (human)
CTD
RGD
PMID:9539131, PMID:11723166 RGD:1302517 NCBI chr18:32,565,258...32,717,052
Ensembl chr18:32,565,258...32,709,225
JBrowse link
G SLC31A1 solute carrier family 31 member 1 disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr11:67,590,087...67,628,947
Ensembl chr11:67,591,080...67,625,798
JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20132478 NCBI chr20:7,341,071...7,383,197
Ensembl chr20:7,341,072...7,383,287
JBrowse link
G SOD1 superoxide dismutase 1 treatment ISO protein:increased expression:cerebrospinal fluid (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
human gene in a rat model;DNA:missense mutation:cds:p.G93A (human)
CTD Direct Evidence: marker/mechanism
RGD
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:18947433, PMID:19635794, PMID:19929749, PMID:20132483, PMID:20177826, PMID:20348957, PMID:20515040, PMID:21867702, PMID:23147550, PMID:23583883, PMID:24885036, PMID:25164820, PMID:25741868, PMID:26826269, PMID:30503815 RGD:13524551, RGD:2312367, RGD:8655880 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8866423 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin 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 chr30:11,233,709...11,305,454
Ensembl chr30:11,233,718...11,305,485
JBrowse link
G SQSTM1 sequestosome 1 ISO mRNA:increased expression:spinal cord
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:19765191, PMID:23851366, PMID:25741868, PMID:28492532 RGD:11561951 NCBI chr11:1,859,776...1,869,289
Ensembl chr11:1,859,465...1,870,755
JBrowse link
G SS18L1 SS18L1 subunit of BAF chromatin remodeling complex ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr24:46,195,278...46,214,613
Ensembl chr24:46,194,852...46,212,543
JBrowse link
G STEAP2 STEAP2 metalloreductase disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr14:16,118,384...16,138,985
Ensembl chr14:16,119,073...16,135,238
JBrowse link
G TARDBP TAR DNA binding protein disease_progression ISO DNA:missense mutations:cds:
protein:increased phosphorylation:brain
DNA:mutation:cds:p.M337V(human)
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.G295S(human)
RGD
CTD
PMID:17023659, PMID:18309045, PMID:18372902, PMID:21167262, PMID:21651514, PMID:21752789, PMID:21998667, PMID:22879928, PMID:23104007, PMID:24019256, PMID:24252504 RGD:5687134, RGD:5687137, RGD:5687157, RGD:5687158, RGD:5687173, RGD:5687192 NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593
JBrowse link
G TFAM transcription factor A, mitochondrial severity ISO RGD PMID:22354563 RGD:6767572 NCBI chr 4:10,585,320...10,600,664
Ensembl chr 4:10,585,480...10,598,058
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:spinal cord RGD PMID:13678668 RGD:12904653 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFRSF21 TNF receptor superfamily member 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24113175 NCBI chr12:15,343,953...15,408,230 JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 4:58,150,734...58,200,158
Ensembl chr 4:58,149,882...58,199,644
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17434459 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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 chr30:16,465,546...16,579,874
Ensembl chr30:16,466,234...16,579,594
JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:30311386 NCBI chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349
JBrowse link
G TXNRD1 thioredoxin reductase 1 susceptibility ISO DNA:SNPs:intron:rs6539137, rs4630362 (human) RGD PMID:18996185 RGD:5685032 NCBI chr10:33,904,065...34,021,549
Ensembl chr10:33,886,343...34,021,696
JBrowse link
G UBQLN2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis RGD
ClinVar
PMID:21857683, PMID:25333069, PMID:25616961, PMID:25741868, PMID:26075709, PMID:28492532 RGD:5147832 NCBI chr  X:47,860,923...47,864,282 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
RGD
ClinVar
CTD
PMID:19734901, PMID:20385924, PMID:25741868 RGD:5686382, RGD:5686384 NCBI chr20:45,179,275...45,237,544
Ensembl chr20:45,188,750...45,238,115
JBrowse link
G VAPB VAMP associated protein B and C ISO DNA:missense mutation:cds:p.P56S (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, typical
RGD
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 RGD:5688230 NCBI chr24:43,182,158...43,238,019
Ensembl chr24:43,182,196...43,231,336
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 chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNP:intron:rs7975232(human) RGD PMID:26190642 RGD:11560790 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:16410746 RGD:1580568 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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 chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
JBrowse link
G BSG basigin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:57,942,703...57,951,089
Ensembl chr20:57,943,276...57,951,061
JBrowse link
G CALB2 calbindin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 5:77,178,158...77,205,663
Ensembl chr 5:77,177,951...77,205,671
JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 5:32,500,899...32,503,355
Ensembl chr 5:32,501,380...32,503,183
JBrowse link
G CD7 CD7 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:45,826...48,864
Ensembl chr 9:45,634...48,749
JBrowse link
G CLU clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
JBrowse link
G CNTF ciliary neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11951178 NCBI chr18:37,758,148...37,765,698 JBrowse link
G CREBBP CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
JBrowse link
G CTSD cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr18:46,010,440...46,019,457
Ensembl chr18:46,010,440...46,019,457
JBrowse link
G DBX1 developing brain homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr21:42,207,205...42,214,954
Ensembl chr21:42,208,346...42,212,415
JBrowse link
G DCTN1 dynactin subunit 1 ISO OMIM NCBI chr17:48,728,096...48,759,187
Ensembl chr17:48,728,270...48,759,147
JBrowse link
G FANCG FA 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 chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751
JBrowse link
G FGF6 fibroblast growth factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr27:40,440,298...40,456,933
Ensembl chr27:40,440,377...40,455,257
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr12:66,508,801...66,632,830
Ensembl chr12:66,509,431...66,632,822
JBrowse link
G FMO1 flavin containing dimethylaniline monoxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127561 NCBI chr 7:27,599,230...27,623,081
Ensembl chr 7:27,599,267...27,618,237
JBrowse link
G FOLH1 folate hydrolase (prostate-specific membrane antigen) 1 treatment ISO RGD PMID:12876198 RGD:737756 NCBI chr21:10,401,129...10,466,162
Ensembl chr21:10,203,492...10,466,161
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
JBrowse link
G FUS FUS RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr 6:17,059,904...17,071,227
Ensembl chr 6:17,060,061...17,071,178
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581
JBrowse link
G GBX2 gastrulation brain homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr25:47,005,509...47,008,367
Ensembl chr25:47,005,504...47,008,512
JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:122,141,633...122,146,724
Ensembl chr  X:122,141,566...122,146,824
JBrowse link
G GFAP glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:18,569,868...18,579,463
Ensembl chr 9:18,569,892...18,579,461
JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15264227 NCBI chr  X:94,729,828...95,006,244
Ensembl chr  X:94,730,943...95,004,279
JBrowse link
G GSX2 GS homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr13:46,640,172...46,642,405
Ensembl chr13:46,640,172...46,641,546
JBrowse link
G HSF1 heat shock transcription factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24256636 NCBI chr13:37,724,741...37,745,259
Ensembl chr13:37,724,759...37,745,252
JBrowse link
G INA internexin neuronal intermediate filament protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr28:15,670,919...15,685,080
Ensembl chr28:15,670,999...15,683,380
JBrowse link
G JAK3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805
JBrowse link
G JUND JunD proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:44,737,021...44,738,932
Ensembl chr20:44,736,832...44,763,020
JBrowse link
G KIF3C kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:20,090,374...20,128,703
Ensembl chr17:20,091,759...20,128,562
JBrowse link
G KIF5A kinesin family member 5A ISO mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767
JBrowse link
G KIF5C kinesin family member 5C ISO mRNA:increased expression:frontal cortex, cerebellum (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr19:50,535,622...50,684,485
Ensembl chr19:50,535,456...50,668,738
JBrowse link
G LAT linker for activation of T cells ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:18,458,985...18,462,463
Ensembl chr 6:18,459,061...18,462,694
JBrowse link
G LDLR low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355
JBrowse link
G LOC100683370 thymosin beta-4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:21,127,694...21,128,346 JBrowse link
G LOC100686073 metallothionein-1 ISO CTD Direct Evidence: therapeutic CTD PMID:24163136 NCBI chr 2:59,603,021...59,604,173 JBrowse link
G LOC607874 cystatin-C-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr23:49,562...53,618 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 2:84,976,366...84,987,376
Ensembl chr 2:84,976,456...84,989,797
JBrowse link
G NEFH neurofilament heavy ISO OMIM NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125
JBrowse link
G OTOG otogelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475
JBrowse link
G PDGFA platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:16,271,082...16,293,246
Ensembl chr 6:16,270,104...16,292,396
JBrowse link
G PENK proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr29:7,757,543...7,763,137
Ensembl chr29:7,757,857...7,762,398
JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17204329 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G PRPH peripherin ISO OMIM NCBI chr27:5,314,815...5,320,270
Ensembl chr27:5,314,807...5,320,089
JBrowse link
G RXRA retinoid X receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:50,525,195...50,575,720
Ensembl chr 9:50,484,567...50,573,119
JBrowse link
G SELPLG selectin P ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr26:18,250,260...18,259,996
Ensembl chr26:18,250,295...18,259,765
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:23757202, PMID:25741868, PMID:28492532 NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833
JBrowse link
G SHC1 SHC adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 7:42,501,829...42,509,613
Ensembl chr 7:42,500,185...42,508,276
JBrowse link
G SIX2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:47,399,152...47,403,503
Ensembl chr10:47,400,034...47,403,509
JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr24:36,498,343...36,503,623
Ensembl chr24:36,498,062...36,503,628
JBrowse link
G SOD1 superoxide dismutase 1 ISO OMIM NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
G TARDBP TAR DNA binding protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
CTD
ClinVar
PMID:19411082, PMID:20082726, PMID:20675015, PMID:20708823, PMID:22575358, PMID:24033266, PMID:24477737, PMID:26467025, PMID:28492532 NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593
JBrowse link
G TIAM1 TIAM Rac1 associated GEF 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr31:26,058,858...26,440,059
Ensembl chr31:25,932,697...26,202,756
JBrowse link
G TLE3 TLE family member 3, transcriptional corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr30:33,803,719...33,895,204
Ensembl chr30:33,803,734...33,896,525
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G UBQLN2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:47,860,923...47,864,282 JBrowse link
G VAPB VAMP associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr24:43,182,158...43,238,019
Ensembl chr24:43,182,196...43,231,336
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 chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
JBrowse link
G VIM vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466
JBrowse link
G WNT7A Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:4,072,010...4,139,521
Ensembl chr20:4,073,929...4,139,436
JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:95,300,234...95,356,103
Ensembl chr  X:95,331,827...95,351,582
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 2:84,976,366...84,987,376
Ensembl chr 2:84,976,456...84,989,797
JBrowse link
G TARDBP TAR DNA binding protein ISO OMIM NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593
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 OMIM NCBI chr12:66,508,801...66,632,830
Ensembl chr12:66,509,431...66,632,822
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 OMIM NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511
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 OMIM NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
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 OMIM NCBI chr  X:47,860,923...47,864,282 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 OMIM NCBI chr11:51,310,672...51,313,426
Ensembl chr11:51,311,085...51,313,400
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 OMIM NCBI chr31:789,586...817,925
Ensembl chr31:791,139...817,895
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 OMIM NCBI chr 5:31,670,483...31,671,891
Ensembl chr 5:31,670,194...31,671,895
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 OMIM NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426
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 OMIM NCBI chr27:1,013,459...1,020,083
Ensembl chr27:1,015,868...1,019,891
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 OMIM NCBI chr11:26,736,728...26,790,449
Ensembl chr11:26,758,261...26,790,449
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 OMIM NCBI chr37:25,799,075...25,803,257
Ensembl chr37:25,796,107...25,802,892
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 OMIM NCBI chr 4:29,250,164...29,266,713
Ensembl chr 4:29,224,247...29,266,008
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 related kinase 1 susceptibility ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 OMIM
ClinVar
PMID:21211617, PMID:22499340, PMID:23757202, PMID:24033266, PMID:25741868, PMID:26945885, PMID:27455347, PMID:28089114, PMID:28123176, PMID:28492532, PMID:29068549 NCBI chr25:20,297,190...20,528,537
Ensembl chr25:20,299,079...20,518,483
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 OMIM
ClinVar
PMID:29342275, PMID:29566793 NCBI chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767
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 FUS RNA binding protein ISO OMIM NCBI chr 6:17,059,904...17,071,227
Ensembl chr 6:17,060,061...17,071,178
JBrowse link
amyotrophic lateral sclerosis type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APCDD1L APC down-regulated 1 like ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr24:43,246,619...43,298,634
Ensembl chr24:43,246,607...43,299,124
JBrowse link
G ATP5F1E ATP synthase F1 subunit epsilon ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr24:43,770,646...43,772,278
Ensembl chr24:43,772,120...43,772,680
JBrowse link
G CTSZ cathepsin Z ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr24:43,743,291...43,750,154
Ensembl chr24:43,743,294...43,754,424
JBrowse link
G EDN3 endothelin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr24:44,024,553...44,054,727
Ensembl chr24:44,033,419...44,054,050
JBrowse link
G GNAS GNAS complex locus ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657
JBrowse link
G NELFCD negative elongation factor complex member C/D ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr24:43,685,356...43,743,239
Ensembl chr24:43,734,236...43,743,233
JBrowse link
G NPEPL1 aminopeptidase like 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr24:43,462,862...43,479,996
Ensembl chr24:43,462,792...43,478,746
JBrowse link
G PRELID3B PRELI domain containing 3B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr24:43,774,582...43,784,416
Ensembl chr24:43,775,975...43,784,400
JBrowse link
G STX16 syntaxin 16 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr24:43,425,719...43,451,828
Ensembl chr24:43,426,470...43,449,077
JBrowse link
G TUBB1 tubulin beta 1 class VI ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr24:43,759,078...43,768,556
Ensembl chr24:43,759,555...43,771,737
JBrowse link
G VAPB VAMP associated protein B and C ISO OMIM NCBI chr24:43,182,158...43,238,019
Ensembl chr24:43,182,196...43,231,336
JBrowse link
G ZNF831 zinc finger protein 831 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr24:43,884,478...44,012,382
Ensembl chr24:43,924,030...43,989,609
JBrowse link
amyotrophic lateral sclerosis type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr15:17,981,661...17,998,644
Ensembl chr15:17,981,647...18,004,631
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 ALS2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar PMID:28492532 NCBI chr37:10,755,595...10,825,073
Ensembl chr37:10,756,515...10,812,292
JBrowse link
G OPTN optineurin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511
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 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:61,576,219...61,592,325
Ensembl chr 5:61,576,069...61,592,303
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
OMIM
RGD
CTD
PMID:16051700, PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr30:16,465,546...16,579,874
Ensembl chr30:16,466,234...16,579,594
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 chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556
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 chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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 CTD Direct Evidence: marker/mechanism CTD PMID:20190753 NCBI chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD
ClinVar
PMID:25741868 NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732
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 chr 1:33,967,783...34,106,950
Ensembl chr 1:33,969,268...34,104,228
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16826520, PMID:16826531 NCBI chr25:44,178,149...44,183,623
Ensembl chr25:44,178,181...44,183,626
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 chr25:44,120,200...44,128,049
Ensembl chr25:44,120,196...44,128,046
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162
JBrowse link
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:30311386 NCBI chr 8:8,276,300...8,279,785 JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476
JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 NCBI chr 5:34,914,797...34,938,263
Ensembl chr 5:34,914,918...34,936,617
JBrowse link
G MYH8 myosin heavy chain 8 ISO Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q RGD PMID:15282353 RGD:1600548 NCBI chr 5:34,696,377...34,725,515
Ensembl chr 5:34,696,371...34,723,574
JBrowse link
G MYOD1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:31260566 NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712
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 chr 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723
JBrowse link
G RYR1 ryanodine receptor 1 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 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
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 chr 4:59,801,240...59,905,759
Ensembl chr 4:59,801,384...59,903,135
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO DNA:mutation:splice junction: RGD PMID:19542096 RGD:13209012 NCBI chr 1:42,384,136...42,831,229
Ensembl chr 1:42,384,038...42,823,388
JBrowse link
G TNNI2 troponin I2, fast skeletal type ISO distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita
RGD
ClinVar
PMID:12592607, PMID:25741868 RGD:1599481 NCBI chr18:46,076,816...46,079,362
Ensembl chr18:46,077,581...46,079,361
JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868, PMID:28492532 NCBI chr18:46,131,925...46,148,577
Ensembl chr18:46,074,700...46,149,131
JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:11738357, PMID:23757202, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr11:52,212,372...52,219,947
Ensembl chr11:52,212,401...52,219,923
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732
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 ISO ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018, PMID:24195946, PMID:25741868, PMID:28492532, PMID:30611313 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
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 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE ClinVar PMID:27782104 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO OMIM NCBI chr 1:42,384,136...42,831,229
Ensembl chr 1:42,384,038...42,823,388
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 ISO OMIM NCBI chr 9:54,017,895...54,027,049
Ensembl chr 9:54,017,952...54,026,680
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 ISO OMIM NCBI chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688
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 member A3 ISO OMIM NCBI chr 6:49,954,148...49,976,260
Ensembl chr 6:49,950,821...49,976,260
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 related kinase 9 ISO OMIM NCBI chr 8:48,180,203...48,218,430
Ensembl chr 8:48,183,071...48,257,646
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 chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO OMIM NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732
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 OMIM NCBI chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507
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 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476
JBrowse link
G VAPB VAMP associated protein B and C ISO OMIM NCBI chr24:43,182,158...43,238,019
Ensembl chr24:43,182,196...43,231,336
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 chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712
JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator ISO OMIM NCBI chr 4:88,149,250...88,263,926
Ensembl chr 4:88,149,257...88,272,464
JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar PMID:2712793, PMID:11326272, PMID:11326338, PMID:19449425, PMID:20358596, PMID:28492532 NCBI chr34:119,307...159,419
Ensembl chr34:122,274...159,394
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 chr 1:98,697,050...98,736,296
Ensembl chr 1:98,697,075...98,734,240
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 chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr12:66,508,801...66,632,830
Ensembl chr12:66,509,431...66,632,822
JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:17101916, PMID:22462675, PMID:25168514 NCBI chr14:43,308,274...43,351,999
Ensembl chr14:43,308,152...43,396,487
JBrowse link
G IGHMBP2 immunoglobulin mu DNA 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 chr18:49,063,748...49,090,625
Ensembl chr18:49,064,609...49,091,453
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:25886484, PMID:28492532 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G MORC2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:26659848, PMID:28492532 NCBI chr26:23,951,704...23,993,620
Ensembl chr26:23,953,130...23,992,431
JBrowse link
G NEFL neurofilament light ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
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 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833
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 chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165
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/C ISO OMIM NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
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 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 chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO OMIM NCBI chr 1:42,384,136...42,831,229
Ensembl chr 1:42,384,038...42,823,388
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 protein 2 ISO OMIM NCBI chr 8:38,373,900...38,643,544
Ensembl chr 8:38,373,964...38,643,240
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 OMIM NCBI chr20:4,281,815...4,298,634
Ensembl chr20:4,281,845...4,297,069
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 chain 7 ISO OMIM NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
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 OMIM NCBI chr16:19,792,957...19,849,299
Ensembl chr16:19,768,639...19,848,139
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 OMIM NCBI chr14:7,639,276...7,722,453
Ensembl chr14:7,639,558...7,722,351
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 OMIM NCBI chr32:6,401,266...6,408,006
Ensembl chr32:6,402,762...6,407,845
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 OMIM NCBI chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
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 FA 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 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO OMIM NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
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 chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044
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 member 4 ISO OMIM NCBI chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162
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 OMIM NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044
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 chr 9:12,251,085...12,266,608
Ensembl chr 9:12,251,186...12,266,605
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO OMIM NCBI chr 9:12,258,188...12,298,376
Ensembl chr 9:12,269,990...12,298,272
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 regulatory TP53 inducible subunit M2B ISO OMIM NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934
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 OMIM NCBI chr 4:19,626,001...19,683,819
Ensembl chr 4:19,626,977...19,684,660
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 IEA Myopathy, Great Dane OMIA PMID:3680647, PMID:16674719, PMID:17017655, PMID:18271825, PMID:19135395, PMID:23754947 NCBI chr19:23,503,934...23,534,407
Ensembl chr19:23,375,363...23,534,303
JBrowse link
G SPEG striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601
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 OMIM NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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/C ISO OMIM NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
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 chain 7 ISO OMIM NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
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 chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822
JBrowse link
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr11:70,248,704...70,977,893
Ensembl chr11:70,249,060...71,097,833
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 chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
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 chr20:9,384,901...9,398,055
Ensembl chr20:9,384,901...9,401,196
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 chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876
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 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G LMNA lamin A/C 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 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 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 chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
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 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
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
RGD
ClinVar
PMID:17923109 RGD:11532762 NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442
JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
JBrowse link
G SGCA sarcoglycan alpha 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 chr 9:26,164,784...26,178,249
Ensembl chr 9:26,164,863...26,174,864
JBrowse link
G SGCB sarcoglycan beta 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 chr13:44,969,483...44,987,274
Ensembl chr13:44,972,473...44,987,184
JBrowse link
G SGCD sarcoglycan delta 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 chr 4:53,259,332...54,178,228
Ensembl chr 4:53,263,866...53,820,231
JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr25:15,300,303...15,429,555
Ensembl chr25:15,249,622...15,430,044
JBrowse link
G TRIM32 tripartite motif containing 32 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr11:70,453,130...70,465,030
Ensembl chr11:70,462,007...70,463,974
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 chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal 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 chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
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 subunit alpha 2 ISO OMIM NCBI chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914
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 chr16:46,687,514...46,735,909
Ensembl chr16:46,687,516...46,733,001
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 N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO OMIM NCBI chr23:12,094,306...12,235,491
Ensembl chr23:12,094,778...12,143,214
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 OMIM NCBI chr12:62,597,020...62,615,062
Ensembl chr12:62,484,472...62,601,339
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 OMIM NCBI chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A ClinVar PMID:25326637, PMID:25741868 NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636
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 chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
JBrowse link
G DYSF dysferlin ISO OMIM NCBI chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868, PMID:31263448 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 ClinVar PMID:24033266, PMID:25741868, PMID:27854218, PMID:28492532, PMID:29300372 NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
JBrowse link
G VDR vitamin D receptor ISO protein:increased expression:muscle: RGD PMID:27558075 RGD:13210781 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C
ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type
ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
JBrowse link
G SGCG sarcoglycan gamma ISO OMIM NCBI chr25:15,300,303...15,429,555
Ensembl chr25:15,249,622...15,430,044
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
JBrowse link
G LOC610636 tubulin alpha-1B chain ISO ClinVar Annotator: match by term: ADHALINOPATHY, PRIMARY ClinVar PMID:18414213, PMID:18728072, PMID:20466733, PMID:25741868, PMID:30744660 NCBI chr37:25,811,491...25,818,838 JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
JBrowse link
G SGCA sarcoglycan alpha treatment ISO OMIM
RGD
PMID:17653106 RGD:13605612 NCBI chr 9:26,164,784...26,178,249
Ensembl chr 9:26,164,863...26,174,864
JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr25:15,300,303...15,429,555
Ensembl chr25:15,249,622...15,430,044
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SGCB sarcoglycan beta treatment ISO OMIM
RGD
PMID:28284983 RGD:13605613 NCBI chr13:44,969,483...44,987,274
Ensembl chr13:44,972,473...44,987,184
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SGCD sarcoglycan delta ISO
IEA
Muscular dystrophy, limb-girdle, type 2F OMIM
OMIA
PMID:15474686, PMID:18371037, PMID:28702169 NCBI chr 4:53,259,332...54,178,228
Ensembl chr 4:53,263,866...53,820,231
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TCAP titin-cap ISO OMIM NCBI chr 9:22,811,792...22,812,980
Ensembl chr 9:22,794,177...22,813,012
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Sarcotubular myopathy ClinVar PMID:4269389, PMID:10399877, PMID:11822024, PMID:15786463, PMID:15886712, PMID:17994549, PMID:19349376, PMID:21775502, PMID:22025579, PMID:22981120, PMID:23142638, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr11:70,248,704...70,977,893
Ensembl chr11:70,249,060...71,097,833
JBrowse link
G TRIM32 tripartite motif containing 32 ISO OMIM NCBI chr11:70,453,130...70,465,030
Ensembl chr11:70,462,007...70,463,974
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein treatment ISO OMIM
RGD
PMID:25048216 RGD:11667961 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED ClinVar PMID:25741868 NCBI chr 1:109,176,955...109,203,875
Ensembl chr 1:109,176,983...109,202,591
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTN titin ISO OMIM NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307
JBrowse link
G AIF1L allograft inflammatory factor 1 like ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:52,944,925...52,966,953
Ensembl chr 9:52,947,570...52,966,894
JBrowse link
G EXOSC2 exosome component 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:53,266,396...53,276,236
Ensembl chr 9:53,266,401...53,276,677
JBrowse link
G FAM78A family with sequence similarity 78 member A ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:52,805,512...52,818,197
Ensembl chr 9:52,805,927...52,818,190
JBrowse link
G FIBCD1 fibrinogen C domain containing 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:53,073,859...53,106,266
Ensembl chr 9:53,073,027...53,103,937
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED ClinVar PMID:11592034, PMID:11741828, PMID:12471058, 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 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:52,970,313...53,028,817
Ensembl chr 9:52,970,306...53,028,821
JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:52,840,300...52,943,785
Ensembl chr 9:52,841,096...52,947,770
JBrowse link
G PLPP7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:52,781,110...52,796,763
Ensembl chr 9:52,781,020...52,796,433
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO OMIM NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
JBrowse link
G PRDM12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:53,284,455...53,300,951
Ensembl chr 9:53,284,455...53,299,312
JBrowse link
G PRRC2B proline rich coiled-coil 2B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:52,642,916...52,702,203
Ensembl chr 9:52,528,970...52,702,203
JBrowse link
G QRFP pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:53,110,763...53,113,743
Ensembl chr 9:53,112,586...53,112,996
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 ISO OMIM NCBI chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822
JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L ClinVar PMID:16835936, PMID:19006240, PMID:25326637, PMID:25525159, PMID:25741868, PMID:26038974, PMID:28492532 NCBI chr11:17,311,238...17,551,536
Ensembl chr11:17,311,226...17,551,536
JBrowse link
G FKTN fukutin ISO DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human) RGD PMID:17044012 RGD:11576328 NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKTN fukutin ISO OMIM NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14 ClinVar PMID:18487244, PMID:21301859, PMID:21880868, PMID:22000311, PMID:22114710, PMID:22357363, PMID:24033266, PMID:24508722, PMID:25203713, PMID:25741868, PMID:26095671, PMID:27854218, PMID:27987238, PMID:28337550, PMID:28492532 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO OMIM NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO OMIM NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
ClinVar PMID:11709191, PMID:12588800, PMID:15236414, PMID:15466003, PMID:16427280, PMID:17030669, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:18195152, PMID:18330676, PMID:18691338, PMID:19067344, PMID:19299310, PMID:19679478, PMID:20215985, PMID:20816175, PMID:20981092, PMID:21228398, PMID:21361872, PMID:21447391, PMID:21727005, PMID:22323514, PMID:22522420, PMID:22554691, PMID:22995991, PMID:23326386, PMID:23689641, PMID:24033266, PMID:24123366, PMID:24282183, PMID:24731844, PMID:24733390, PMID:25326635, PMID:25333069, PMID:25390965, PMID:25525159, PMID:25741868, PMID:26013959, PMID:26467025, PMID:26908613, PMID:26938784, PMID:27391550, PMID:27884173, PMID:28424332, PMID:28492532, PMID:28688748, PMID:28832562, PMID:30311386, PMID:30937090, PMID:30961548 NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMT aminomethyltransferase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506
JBrowse link
G C20H3orf62 chromosome 20 C3orf62 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr20:39,953,285...39,959,112
Ensembl chr20:39,953,764...39,956,754
JBrowse link
G C20H3orf84 chromosome 20 C3orf84 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr20:40,012,730...40,021,983
Ensembl chr20:40,012,854...40,021,981
JBrowse link
G CCDC71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr20:40,031,573...40,036,895
Ensembl chr20:40,033,839...40,035,416
JBrowse link
G DAG1 dystroglycan 1 ISO OMIM NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G IHO1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr20:39,964,629...40,006,726
Ensembl chr20:39,965,480...39,990,756
JBrowse link
G KLHDC8B kelch domain containing 8B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr20:40,012,797...40,027,888
Ensembl chr20:40,023,411...40,026,552
JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523
JBrowse link
G NICN1 nicolin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr20:39,810,692...39,814,354
Ensembl chr20:39,810,692...39,814,354
JBrowse link
G RHOA ras homolog family member A ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
JBrowse link
G TCTA T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr20:39,820,845...39,824,526
Ensembl chr20:39,822,211...39,824,200
JBrowse link
G USP4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr20:39,899,880...39,952,959
Ensembl chr20:39,899,897...39,952,420
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEC plectin ISO OMIM NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAPPC11 trafficking protein particle complex 11 ISO OMIM NCBI chr16:46,687,514...46,735,909
Ensembl chr16:46,687,516...46,733,001
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GMPPB GDP-mannose pyrophosphorylase B ISO OMIM NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO OMIM NCBI chr14:30,697,060...30,989,423
Ensembl chr14:30,648,128...30,989,604
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPR17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W ClinVar PMID:28492532 NCBI chr19:22,958,778...22,968,489
Ensembl chr19:22,963,363...22,964,382
JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO OMIM NCBI chr19:22,932,251...22,978,437
Ensembl chr19:22,931,779...22,982,765
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BVES blood vessel epicardial substance ISO OMIM NCBI chr12:62,542,274...62,581,110
Ensembl chr12:62,545,666...62,579,548
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Y term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC106557472 torsin-1A-interacting protein 2-like ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y ClinVar PMID:24856141, PMID:25193337 NCBI chr 7:13,411,955...13,453,366
Ensembl chr 7:13,414,910...13,435,161
JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 ISO OMIM NCBI chr 7:13,452,808...13,501,392
Ensembl chr 7:13,452,949...13,501,307
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Z term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POGLUT1 protein O-glucosyltransferase 1 ISO OMIM NCBI chr33:23,122,682...23,150,863
Ensembl chr33:23,121,563...23,148,678
JBrowse link
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 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 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO OMIM NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
autosomal recessive 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 RNASEH1 ribonuclease H1 ISO OMIM NCBI chr17:2,117,446...2,127,893
Ensembl chr17:2,117,446...2,127,893
JBrowse link
autosomal recessive 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 TK2 thymidine kinase 2 ISO OMIM NCBI chr 5:82,730,514...82,758,153
Ensembl chr 5:82,729,150...82,756,457
JBrowse link
autosomal recessive 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 DGUOK deoxyguanosine kinase ISO OMIM NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782
JBrowse link
autosomal recessive 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 TOP3A DNA topoisomerase III alpha ISO OMIM NCBI chr 5:41,262,820...41,290,101
Ensembl chr 5:41,263,017...41,290,100
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO OMIM NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr19:19,129,418...19,327,377
Ensembl chr19:19,129,081...19,325,590
JBrowse link
Axial Myopathy, Late-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Axial myopathy, late-onset ClinVar PMID:24033266, PMID:28492532 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
Becker muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin ISO OMIM NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:20400443, PMID:21378009, PMID:23861362, PMID:24033266, PMID:25650408, PMID:25676813, PMID:25741868, PMID:27930701, PMID:28166282, PMID:28492532 NCBI chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603
JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:25741868 NCBI chr24:22,636,716...22,665,828
Ensembl chr24:22,636,756...22,665,741
JBrowse link
Benign Pseudohypertrophic Muscular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:7881286, PMID:17259292, PMID:19937601, PMID:23757202, PMID:24033266, PMID:25447171, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:20400443, PMID:21378009, PMID:23861362, PMID:24033266, PMID:25650408, PMID:25676813, PMID:25741868, PMID:27930701, PMID:28166282, PMID:28492532 NCBI chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603
JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:25741868 NCBI chr24:22,636,716...22,665,828
Ensembl chr24:22,636,756...22,665,741
JBrowse link
Bethlem myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:36,720,686...36,838,321
Ensembl chr12:36,646,408...36,838,622
JBrowse link
G COL6A1 collagen type VI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
CTD
ClinVar
PMID:11865138, PMID:15689448, PMID:16130093, PMID:18414213, PMID:18852439, PMID:19949035, PMID:20302629, PMID:20981092, PMID:22426012, PMID:23040494, PMID:23564457, PMID:23757202, PMID:24033266, PMID:24038877, PMID:25741868, PMID:26467025, PMID:27884173, PMID:28492532, PMID:30311386, PMID:30564623 NCBI chr31:39,301,718...39,319,895
Ensembl chr31:39,301,748...39,448,062
JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD
ClinVar
PMID:12840783, PMID:15689448, PMID:16130093, PMID:16935502, PMID:17886299, PMID:18378883, PMID:18414213, PMID:18825676, PMID:19309692, PMID:19564581, PMID:19884007, PMID:19949035, PMID:20301676, PMID:20576434, PMID:20729548, PMID:20976770, PMID:21280092, PMID:22992134, PMID:23040494, PMID:23757202, PMID:24033266, PMID:24038877, PMID:24314752, PMID:24801232, PMID:25533456, PMID:25535305, PMID:25635128, PMID:25741868, PMID:26467025, PMID:26752647, PMID:27447704, PMID:27456059, PMID:27782108, PMID:27854218, PMID:28492532, PMID:28660205, PMID:29419890, PMID:30564623 NCBI chr31:39,433,174...39,448,051 JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
CTD
ClinVar
PMID:15563506, PMID:15689448, PMID:16935502, PMID:17785673, PMID:17886299, PMID:18378883, PMID:18414213, PMID:18825676, PMID:20976770, PMID:20981092, PMID:22995991, PMID:23040494, PMID:23757202, PMID:24033266, PMID:24038877, PMID:25214167, PMID:25224718, PMID:25741868, PMID:26004199, PMID:26247046, PMID:26284228, PMID:26467025, PMID:26872670, PMID:27854218, PMID:28492532, PMID:28688748, PMID:29970176, PMID:30487145, PMID:30564623 NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:18414213, PMID:24801232, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr31:39,451,557...39,464,249
Ensembl chr31:39,275,159...39,464,715
JBrowse link
Bethlem Myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACKR3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr25:47,327,921...47,339,632
Ensembl chr25:47,327,963...47,339,622
JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707, PMID:25741868 NCBI chr  X:42,705,789...42,860,701
Ensembl chr  X:42,704,627...42,853,812
JBrowse link
G COL6A1 collagen type VI alpha 1 chain susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human) OMIM
RGD
PMID:8782832 RGD:1600934 NCBI chr31:39,301,718...39,319,895
Ensembl chr31:39,301,748...39,448,062
JBrowse link
G COL6A2 collagen type VI alpha 2 chain susceptibility ISO Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human) OMIM
RGD
PMID:8782832 RGD:1600934 NCBI chr31:39,433,174...39,448,051 JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO OMIM NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402
JBrowse link
G COPS8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr25:47,783,241...47,796,806 JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:24801232, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr31:39,451,557...39,464,249
Ensembl chr31:39,275,159...39,464,715
JBrowse link
Bethlem Myopathy 2 term browser