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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 IAGP 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 chr12:53,307,456...53,321,610
Ensembl chr12:53,307,456...53,324,864
JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP 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 1:229,431,245...229,434,094
Ensembl chr 1:229,431,245...229,434,098
JBrowse link
G DNM2 dynamin 2 IAGP ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:19623537, PMID:19932619, PMID:24465259, PMID:26199319, PMID:28492532, PMID:30311386 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,079...10,833,488
JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,345...10,231,286
JBrowse link
G EMD emerin IAGP 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:154,379,236...154,381,523
Ensembl chr  X:154,379,273...154,381,523
Ensembl chr  X:154,379,273...154,381,523
JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 IAGP ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:25133958, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645
JBrowse link
G GJB1 gap junction protein beta 1 IAGP ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516
Ensembl chr  X:71,212,811...71,225,516
JBrowse link
G GPI glucose-6-phosphate isomerase IAGP 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 chr19:34,353,330...34,402,413
Ensembl chr19:34,359,480...34,402,413
JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:9829280, PMID:20207543, PMID:24611677, PMID:25214167, PMID:25525159, PMID:28492532, PMID:30311386 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
JBrowse link
G LDB3 LIM domain binding 3 IAGP 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 chr10:86,666,788...86,736,072
Ensembl chr10:86,668,507...86,736,072
Ensembl chr10:86,668,507...86,736,072
JBrowse link
G LMNA lamin A/C IAGP 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 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G LOC110121486 VISTA enhancer hs2143 IAGP ClinVar Annotator: match by term: Neuromuscular disease 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 chr10:86,684,072...86,689,569 JBrowse link
G MPZ myelin protein zero IAGP ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:7527371, PMID:9187667, PMID:9633821, PMID:10093067, PMID:10965800, PMID:11437164, PMID:11835375, PMID:12497641, PMID:12707985, PMID:18347322, PMID:18422810, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 1:161,303,594...161,309,969
Ensembl chr 1:161,304,735...161,309,968
Ensembl chr 1:161,304,735...161,309,968
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: Neuromuscular disease ClinVar PMID:28027978, PMID:31965079 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G PLP1 proteolipid protein 1 IAGP ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:30311386 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619
JBrowse link
G PMP22 peripheral myelin protein 22 IAGP 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 chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292
Ensembl chr17:15,229,773...15,272,292
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP 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 chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:15466003, PMID:17906881, PMID:19299310, PMID:22323514, PMID:22554691, PMID:25741868, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G RAB9B RAB9B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:30311386 NCBI chr  X:103,776,324...103,832,257
Ensembl chr  X:103,822,327...103,832,257
JBrowse link
G RYR1 ryanodine receptor 1 IAGP 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 chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
G SGCA sarcoglycan alpha IAGP 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 chr17:50,165,517...50,175,928
Ensembl chr17:50,164,214...50,175,928
JBrowse link
G SGCD sarcoglycan delta IAGP ClinVar Annotator: match by term: Neuromuscular Diseases ClinVar PMID:24033266 NCBI chr 5:155,728,636...156,767,788
Ensembl chr 5:155,870,344...156,767,788
JBrowse link
G SOD1 superoxide dismutase 1 IAGP ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:25741868, PMID:30311386 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,622...31,668,931
Ensembl chr21:31,659,622...31,668,931
JBrowse link
G TPI1 triosephosphate isomerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr12:6,866,834...6,870,948
Ensembl chr12:6,867,119...6,870,948
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ClinVar Annotator: match by term: Neuromuscular Diseases
ClinVar Annotator: match by term: Neuromuscular disease
ClinVar PMID:956253, PMID:1520078, PMID:4056805, PMID:8179305, PMID:11891693, PMID:14755468, PMID:15668982, PMID:18587396, PMID:19232556, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21573172, PMID:21964574, PMID:22065612, PMID:22419508, PMID:22675077, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24319099, PMID:24575025, PMID:24577120, PMID:24677493, PMID:24789864, PMID:24963089, PMID:25256292, PMID:25703509, PMID:25741868, PMID:25900305, PMID:26110311, PMID:26249260, PMID:26467025, PMID:26948711, PMID:27330106, PMID:27549087, PMID:27751652, PMID:28492532, PMID:28898540, PMID:30311386 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:15466003, PMID:17906881, PMID:19299310, PMID:22323514, PMID:22554691, PMID:25741868, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386 NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Neuromuscular disease ClinVar PMID:22335739, PMID:23975875, PMID:24033266, PMID:25589632, PMID:26701604, PMID:28492532, PMID:29691892, PMID:31053406 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G XK X-linked Kx blood group EXP CTD Direct Evidence: marker/mechanism CTD PMID:8004674, PMID:8619554 NCBI chr  X:37,685,686...37,732,130
Ensembl chr  X:37,685,791...37,732,130
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 IAGP ClinVar Annotator: match by term: 3 Methylcrotonyl-CoA carboxylase 1 deficiency
ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar
OMIM
PMID:9187484, PMID:10485305, PMID:11170888, PMID:11181649, PMID:11406611, PMID:14680978, PMID:15359379, PMID:15868465, PMID:16010683, PMID:16835865, PMID:17968484, PMID:19339287, PMID:21071250, PMID:22150417, PMID:22264772, PMID:22642865, PMID:24033266, PMID:24078573, PMID:25356967, PMID:25382614, PMID:25741868, PMID:26566957, PMID:27577216, PMID:27601257, PMID:28492532 NCBI chr 3:183,015,218...183,099,587
Ensembl chr 3:183,015,218...183,116,075
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 IAGP ClinVar Annotator: match by term: 3-methylcrotonyl CoA carboxylase 2 deficiency ClinVar
OMIM
PMID:1293382, PMID:7128647, PMID:8598650, PMID:9544913, PMID:11170888, PMID:11181649, PMID:11406611, PMID:14680978, PMID:15877210, PMID:16010683, PMID:16835865, PMID:17908719, PMID:17968484, PMID:20818363, PMID:20818383, PMID:21071250, PMID:22030835, PMID:22150417, PMID:22264772, PMID:22642865, PMID:25087612, PMID:25356967, PMID:25741868, PMID:26566957, PMID:26764160, PMID:27033733, PMID:27601257, PMID:28018443, PMID:28492532 NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,587,288...71,658,706
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 IAGP ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar PMID:11170888, PMID:14680978, PMID:24033266, PMID:25356967, PMID:25741868, PMID:28492532 NCBI chr 3:183,015,218...183,099,587
Ensembl chr 3:183,015,218...183,116,075
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 IAGP ClinVar Annotator: match by term: 3-MCC Deficiency ClinVar NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,587,288...71,658,706
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 IAGP 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 1:229,431,245...229,434,094
Ensembl chr 1:229,431,245...229,434,098
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 IAGP ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria
ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive
ClinVar Annotator: match by term: Myoglobinuria, recurrent, autosomal recessive
ClinVar
OMIM
PMID:18591397, PMID:18817903, PMID:20583302, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409
JBrowse link
adult spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMN1 survival of motor neuron 1, telomeric IAGP ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, TYPE IV OMIM
ClinVar
PMID:21542063, PMID:25741868, PMID:28492532 NCBI chr 5:70,924,941...70,953,015
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G CCN2 cellular communication network factor 2 IEP mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility IAGP associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar
OMIM
PMID:22865833, PMID:25741868, PMID:30006060, PMID:30311386, PMID:32860008 NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,107...112,657,592
JBrowse link
G MIR302CHG miR-302/367 cluster host gene IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:22865833, PMID:25741868, PMID:30006060, PMID:30311386, PMID:32860008 NCBI chr 4:112,646,720...112,650,051
Ensembl chr 4:112,646,476...112,650,051
JBrowse link
G MIR302D microRNA 302d IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 4:112,648,004...112,648,071
Ensembl chr 4:112,648,004...112,648,071
JBrowse link
G MIR367 microRNA 367 IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 4:112,647,874...112,647,941
Ensembl chr 4:112,647,874...112,647,941
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 chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,509
Ensembl chr16:28,878,405...28,904,509
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 IAGP ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome
ClinVar Annotator: match by term: MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
ClinVar
OMIM
PMID:1605231, PMID:2393019, PMID:8484404, PMID:12871948, PMID:14661163, PMID:15889350, PMID:15980113, PMID:18187543, PMID:18398436, PMID:18414213, PMID:20628049, PMID:20655035, PMID:21098685, PMID:21896621, PMID:22805248, PMID:23550058, PMID:23568789, PMID:24265446, PMID:24629861, PMID:24665922, PMID:24721225, PMID:25167861, PMID:25527620, PMID:25644381, PMID:25741868, PMID:27212794, PMID:27672545, PMID:28492532 NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917
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 IEP RGD PMID:20680636 RGD:5148026 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G EDAR ectodysplasin A receptor IAGP ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241, PMID:18231121, PMID:20236127, PMID:20979233, PMID:25741868, PMID:28492532 NCBI chr 2:108,894,471...108,989,256
Ensembl chr 2:108,894,471...108,989,372
JBrowse link
G FANCI FA complementation group I IAGP ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:21880868, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G MIR6766 microRNA 6766 IAGP ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868, PMID:28492532 NCBI chr15:89,326,739...89,326,810
Ensembl chr15:89,326,739...89,326,810
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility IAGP
EXP
DNA:mutations:cds:
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
DNA:missense mutations:cds:
ClinVar
CTD
OMIM
PMID:632821, PMID:1582434, PMID:2067633, PMID:2725645, PMID:8884268, PMID:9500334, PMID:11431686, PMID:11571332, PMID:11897778, PMID:12073019, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:12975295, PMID:14467368, PMID:14557557, PMID:14635118, PMID:14694057, PMID:14745080, PMID:15122711, PMID:15181170, PMID:15258572, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15534189, PMID:15689359, PMID:15800909, PMID:15824347, PMID:15913923, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16080118, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16545482, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16639411, PMID:16715201, PMID:16857757, PMID:16919951, PMID:16929381, PMID:16940310, PMID:16943369, PMID:16957900, PMID:17067213, PMID:17088268, PMID:17280874, PMID:17426723, PMID:17436221, PMID:17438011, PMID:17452231, PMID:17502560, PMID:17538929, PMID:17846414, PMID:17894835, PMID:17923349, PMID:17950645, PMID:17980715, PMID:18156159, PMID:18195149, PMID:18195151, PMID:18294203, PMID:18321754, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18716558, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19125351, PMID:19189930, PMID:19195941, PMID:19251978, PMID:19275594, PMID:19307547, PMID:19344718, PMID:19364868, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19629138, PMID:19752458, PMID:19762913, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19837034, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20153822, PMID:20176107, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20438629, PMID:20513108, PMID:20576279, PMID:20601675, PMID:20691285, PMID:20701905, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20837862, PMID:20843780, PMID:20883824, PMID:20981092, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21236670, PMID:21259344, PMID:21276947, PMID:21282586, PMID:21301859, PMID:21305355, PMID:21357833, PMID:21455106, PMID:21515089, PMID:21550804, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21696159, PMID:21704543, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21953457, PMID:21956653, PMID:21993618, PMID:22000311, PMID:22006280, PMID:22114710, PMID:22166854, PMID:22176657, PMID:22189570, PMID:22237560, PMID:22277967, PMID:22334187, PMID:22342071, PMID:22357363, PMID:22470557, PMID:22494076, PMID:22552686, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22778364, PMID:22863191, PMID:22931735, PMID:22933815, PMID:22987704, PMID:22995991, PMID:23066759, PMID:23077218, PMID:23084792, PMID:23208208, PMID:23212759, PMID:23248042, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23446635, PMID:23446645, PMID:23448099, PMID:23524600, PMID:23545419, PMID:23665194, PMID:23719791, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23873972, PMID:23921535, PMID:24033266, PMID:24091540, PMID:24099403, PMID:24122062, PMID:24259288, PMID:24265579, PMID:24272679, PMID:24288107, PMID:24331360, PMID:24508722, PMID:24642831, PMID:24725338, PMID:24841123, PMID:25025039, PMID:25065347, PMID:25118206, PMID:25203713, PMID:25281868, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25466440, PMID:25488682, PMID:25585994, PMID:25660390, PMID:25713120, PMID:25741868, PMID:25771874, PMID:25850945, PMID:25914719, PMID:25940035, PMID:26050231, PMID:26077851, PMID:26095671, PMID:26104464, PMID:26169155, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26607151, PMID:26735972, PMID:26755490, PMID:26942291, PMID:26942292, PMID:26968897, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27290639, PMID:27345795, PMID:27381400, PMID:27422324, PMID:27450679, PMID:27538604, PMID:27538665, PMID:27822509, PMID:27826120, PMID:27838477, PMID:27854218, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28206745, PMID:28284481, PMID:28337550, PMID:28471437, PMID:28480171, PMID:28492532, PMID:28634151, PMID:28771251, PMID:28776642, PMID:28812649, PMID:28815208, PMID:28837072, PMID:28865037, PMID:28901595, PMID:28958595, PMID:29029963, PMID:29190809, PMID:29272804, PMID:29278894, PMID:29302508, PMID:29341116, PMID:29358615, PMID:29423831, PMID:29474836, PMID:29482223, PMID:29574624, PMID:29588995, PMID:29644085, PMID:29712893, PMID:29915382, PMID:29920680, PMID:29950568, PMID:29992832, PMID:30021052, PMID:30167885, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30423451, PMID:30831263, PMID:30843307, PMID:15689359, PMID:20142534, PMID:16896309, PMID:22237560 RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G RLBP1 retinaldehyde binding protein 1 IAGP ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr15:89,209,869...89,223,179
Ensembl chr15:89,209,869...89,221,614
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 IAGP 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 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G FOXO1 forkhead box O1 IAGP OMIM NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
JBrowse link
G PAX3 paired box 3 IAGP DNA:translocations: (human)
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma
ClinVar
OMIM
PMID:24033266, PMID:25741868, PMID:15313887 RGD:1580944 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,888...222,298,996
Ensembl chr 2:222,199,888...222,298,996
JBrowse link
G PAX7 paired box 7 IAGP ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 OMIM
ClinVar
PMID:25741868, PMID:31092906, PMID:32214227 NCBI chr 1:18,630,846...18,748,866
Ensembl chr 1:18,630,846...18,748,866
JBrowse link
G TP73 tumor protein p73 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
JBrowse link
G WWTR1 WW domain containing transcription regulator 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 3:149,517,235...149,724,788
Ensembl chr 3:149,517,235...149,736,714
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 IAGP OMIM NCBI chr17:81,977,550...82,017,669
Ensembl chr17:81,976,807...82,017,406
JBrowse link
Amyopathic Dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IEP
IAGP
DNA:polymorphism: :HLA-DQA1*0501;
DNA:polymorphism (human)
RGD PMID:18671865, PMID:8666549, PMID:15067086 RGD:5147790, RGD:8547569, RGD:5147796 NCBI chr 6:32,637,406...32,654,846
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
amyotrophic lateral sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC125611.4 novel transcript, antisense to PRPH IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to ClinVar PMID:15446584, PMID:25741868, PMID:28492532 NCBI chr12:49,292,631...49,324,576
Ensembl chr12:49,292,631...49,324,576
JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 IEP
ISS
mRNA:decreased expression:motor neuron: MouseDO PMID:20372915, PMID:22226999 RGD:10755336, RGD:13432092 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO protein:increased expression:skeletal muscle RGD PMID:18273716 RGD:5509081 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 susceptibility IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28492532, PMID:28832565, PMID:11586297 RGD:1599080 NCBI chr 2:201,700,267...201,781,153
Ensembl chr 2:201,700,267...201,780,956
JBrowse link
G ANG angiogenin no_association IAGP
IEP
DNA:mutations:multiple
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
DNA:missense mutations
DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human)
protein:increased expression:cerebrospinal fluid
ClinVar PMID:25741868, PMID:22190368, PMID:16501576, PMID:17462671, PMID:19177252 RGD:6892707, RGD:6892718, RGD:6892716, RGD:6892713 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
JBrowse link
G AOX1 aldehyde oxidase 1 IAGP RGD PMID:7570184 RGD:734575 NCBI chr 2:200,585,952...200,677,064
Ensembl chr 2:200,586,014...200,677,064
JBrowse link
G APOE apolipoprotein E severity IAGP DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) RGD PMID:8899655 RGD:12880359 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G AQP4 aquaporin 4 ISO mRNA, protein:increased expression:spinal cord
protein:increased expression:brainstem
RGD PMID:19089902, PMID:22987392 RGD:5490153, RGD:8662893 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G ATG5 autophagy related 5 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr 6:106,184,476...106,325,789
Ensembl chr 6:106,045,423...106,325,791
JBrowse link
G ATOX1 antioxidant 1 copper chaperone disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 5:151,742,822...151,758,631
Ensembl chr 5:151,742,316...151,772,532
JBrowse link
G ATXN2 ataxin 2 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:27377857 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
JBrowse link
G BAD BCL2 associated agonist of cell death disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
JBrowse link
G BAK1 BCL2 antagonist/killer 1 treatment ISO RGD PMID:20890041 RGD:13506803 NCBI chr 6:33,572,552...33,580,296
Ensembl chr 6:33,572,547...33,580,293
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment
disease_progression
severity
ISO RGD PMID:24699224, PMID:10582606, PMID:20195368, PMID:20890041, PMID:21193837 RGD:13506797, RGD:13506907, RGD:13506805, RGD:13506803, RGD:13506800 NCBI chr19:48,954,825...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BCL2L1 BCL2 like 1 treatment
disease_progression
ISO RGD PMID:18543336, PMID:10582606 RGD:13506902, RGD:13506907 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
JBrowse link
G BECN1 beclin 1 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G BID BH3 interacting domain death agonist ISO RGD PMID:29440992 RGD:13506949 NCBI chr22:17,734,138...17,774,665
Ensembl chr22:17,734,138...17,774,770
JBrowse link
G BNIP3L BCL2 interacting protein 3 like ISO RGD PMID:29440992 RGD:13506949 NCBI chr 8:26,383,054...26,413,127
Ensembl chr 8:26,383,054...26,505,636
JBrowse link
G BPTF bromodomain PHD finger transcription factor IEP mRNA,protein:increased expression:spinal cord: RGD PMID:9225734 RGD:9586057 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
JBrowse link
G C3 complement C3 ISO RGD PMID:19050293 RGD:5130169 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G C5AR1 complement C5a receptor 1 ISO RGD PMID:19050293 RGD:5130169 NCBI chr19:47,309,861...47,322,066
Ensembl chr19:47,290,023...47,322,066
JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:27713094 NCBI chr 9:27,546,546...27,573,866
Ensembl chr 9:27,535,640...27,573,866
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CALCA calcitonin related polypeptide alpha ISO RGD PMID:21964254 RGD:5684010 NCBI chr11:14,966,668...14,972,361
Ensembl chr11:14,966,668...14,972,354
JBrowse link
G CAMK1G calcium/calmodulin dependent protein kinase IG EXP CTD Direct Evidence: marker/mechanism CTD PMID:23624525 NCBI chr 1:209,583,714...209,613,939
Ensembl chr 1:209,583,714...209,613,939
JBrowse link
G CAPN14 calpain 14 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:31,173,056...31,233,970
Ensembl chr 2:31,173,056...31,233,858
JBrowse link
G CASP12 caspase 12 (gene/pseudogene) ISO protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr11:104,885,718...104,898,460
Ensembl chr11:104,885,718...104,898,670
JBrowse link
G CASP3 caspase 3 ISO protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,649,509
JBrowse link
G CASP9 caspase 9 ISO protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
JBrowse link
G CCR2 C-C motif chemokine receptor 2 disease_progression IEP protein:increased expression:plasma:
protein:decreased expression:monocyte:
RGD PMID:16857270, PMID:16857270 RGD:8657363, RGD:8657363 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,744...46,360,940
Ensembl chr 3:46,353,744...46,360,940
JBrowse link
G CCS copper chaperone for superoxide dismutase treatment IDA RGD PMID:26826269 RGD:13524551 NCBI chr11:66,593,162...66,606,019
Ensembl chr11:66,593,153...66,606,019
JBrowse link
G CD40LG CD40 ligand ISO
EXP
CTD Direct Evidence: therapeutic CTD PMID:20348957, PMID:20348957 RGD:5490547 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CDK5 cyclin dependent kinase 5 ISO RGD PMID:11343650 RGD:734741 NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
JBrowse link
G CFAP410 cilia and flagella associated protein 410 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:27455348 NCBI chr21:44,328,944...44,339,417
Ensembl chr21:44,328,944...44,339,402
JBrowse link
G CHMP2B charged multivesicular body protein 2B IAGP
EXP
DNA:mutations:cds:Q206H, I29V (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16807408, PMID:16807408 RGD:5688711 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556
JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295
JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:7895015, PMID:18479385, PMID:22036597, PMID:25741868, PMID:28492532, PMID:29454195 NCBI chr20:63,343,223...63,375,471
Ensembl chr20:63,343,223...63,378,401
JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:78,623,282...78,655,586
Ensembl chr15:78,624,111...78,727,754
JBrowse link
G CNTF ciliary neurotrophic factor susceptibility ISO RGD PMID:11951178 RGD:734796 NCBI chr11:58,622,665...58,625,733
Ensembl chr11:58,622,665...58,625,733
JBrowse link
G CTSH cathepsin H ISO mRNA, protein:increased expression:spinal cord RGD PMID:17583678 RGD:5686391 NCBI chr15:78,921,058...78,945,089
Ensembl chr15:78,921,058...78,949,574
JBrowse link
G DAO D-amino acid oxidase IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr12:108,880,030...108,901,043
Ensembl chr12:108,858,932...108,901,043
JBrowse link
G DBR1 debranching RNA lariats 1 EXP CTD Direct Evidence: therapeutic CTD PMID:23104007 NCBI chr 3:138,160,988...138,174,921
Ensembl chr 3:138,160,988...138,174,921
JBrowse link
G DCTN1 dynactin subunit 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to ClinVar PMID:15326253, PMID:16240349, PMID:17824900, PMID:18812314, PMID:19506225, PMID:22777741, PMID:23143281, PMID:25025039, PMID:25382069, PMID:25741868, PMID:26429889, PMID:26467025, PMID:26662454, PMID:27132499, PMID:28130640, PMID:28430856, PMID:28492532, PMID:28717666 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087
JBrowse link
G DDX20 DEAD-box helicase 20 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 1:111,755,901...111,768,000
Ensembl chr 1:111,755,245...111,768,000
JBrowse link
G DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr17:41,976,427...42,021,371
Ensembl chr17:41,976,435...42,021,376
Ensembl chr17:41,976,435...42,021,376
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO protein:decreased expression:mitochondrion: RGD PMID:24399935 RGD:9589066 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G DPP6 dipeptidyl peptidase like 6 no_association IAGP
EXP
DNA:SNP:intron:rs10260404 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18084291, PMID:18708572, PMID:20137488 RGD:5687188, RGD:5687181 NCBI chr 7:153,748,133...154,894,285
Ensembl chr 7:153,887,097...154,894,285
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 IEP protein:increased expression:spinal cord RGD PMID:12675919 RGD:2301741 NCBI chr 2:37,099,210...37,157,065
Ensembl chr 2:37,099,210...37,157,065
JBrowse link
G ELP3 elongator acetyltransferase complex subunit 3 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 8:28,090,232...28,191,153
Ensembl chr 8:28,089,673...28,191,156
JBrowse link
G EPG5 ectopic P-granules autophagy protein 5 homolog ISS MouseDO NCBI chr18:45,800,586...45,967,339
Ensembl chr18:45,847,609...45,967,329
JBrowse link
G EPO erythropoietin disease_progression IEP protein:decreased expression:cerebrospinal fluid RGD PMID:17368721 RGD:10395391 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
JBrowse link
G EWSR1 EWS RNA binding protein 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr22:29,268,254...29,300,523
Ensembl chr22:29,268,009...29,300,525
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP 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 chr 6:109,691,296...109,825,431
Ensembl chr 6:109,690,609...109,878,098
Ensembl chr 6:109,690,609...109,878,098
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G FUS FUS RNA binding protein IAGP
EXP
IMP
CTD Direct Evidence: marker/mechanism CTD PMID:30455313, PMID:22055719, PMID:21408206 RGD:5509900, RGD:9685710 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,110...31,194,871
Ensembl chr16:31,180,110...31,194,871
JBrowse link
G GDNF glial cell derived neurotrophic factor IEP mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 5:37,812,677...37,840,044
Ensembl chr 5:37,812,677...37,840,041
JBrowse link
G GFAP glial fibrillary acidic protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11723166 NCBI chr17:44,903,159...44,915,552
Ensembl chr17:44,903,159...44,916,937
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 chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
JBrowse link
G GLE1 GLE1 RNA export mediator IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28884921 NCBI chr 9:128,504,692...128,542,292
Ensembl chr 9:128,504,700...128,542,288
Ensembl chr 9:128,504,700...128,542,288
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 treatment IDA human protein in a rat model RGD PMID:26113413 RGD:13506239 NCBI chr10:99,396,870...99,430,624
Ensembl chr10:99,396,870...99,430,624
JBrowse link
G GRN granulin precursor disease_progression
onset
IEP
IAGP
ISO
protein:increased expression:spinal cord, microglia
DNA:mutations: :
RGD PMID:21107132, PMID:18184915, PMID:21107132 RGD:5509593, RGD:5509619, RGD:5509593 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
JBrowse link
G GSK3A glycogen synthase kinase 3 alpha IDA RGD PMID:12675919 RGD:2301741 NCBI chr19:42,230,186...42,243,330
Ensembl chr19:42,230,190...42,242,625
JBrowse link
G GSK3B glycogen synthase kinase 3 beta IDA RGD PMID:12675919 RGD:2301741 NCBI chr 3:119,821,321...120,095,823
Ensembl chr 3:119,821,323...120,094,417
Ensembl chr 3:119,821,323...120,094,417
JBrowse link
G GSR glutathione-disulfide reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16681429 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
JBrowse link
G GSTP1 glutathione S-transferase pi 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16109392 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G HDAC4 histone deacetylase 4 severity IEP RGD PMID:23824486 RGD:9681450 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 3:194,136,148...194,138,732
Ensembl chr 3:194,136,148...194,138,732
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 chr 8:79,764,010...79,767,767
Ensembl chr 8:79,764,010...79,767,857
Ensembl chr 8:79,764,010...79,767,857
JBrowse link
G HMGB1 high mobility group box 1 severity IDA RGD PMID:23639787 RGD:10402056 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
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 9:83,968,083...83,980,630
Ensembl chr 9:83,968,083...83,980,616
JBrowse link
G HRK harakiri, BCL2 interacting protein ISO RGD PMID:29440992 RGD:13506949 NCBI chr12:116,856,144...116,881,441
Ensembl chr12:116,856,144...116,881,441
JBrowse link
G IGF1R insulin like growth factor 1 receptor onset ISO mRNA:decreased expression:spinal cord (rat) RGD PMID:18683239 RGD:12904708 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO protein:increased expression:spinal cord, astrocyte RGD PMID:18441505 RGD:2311519 NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507
Ensembl chr 6:159,969,082...160,113,507
JBrowse link
G ITPR2 inositol 1,4,5-trisphosphate receptor type 2 susceptibility IAGP DNA:snp:intron:g.26636386A>G rs2306677 (human) RGD PMID:17827064 RGD:6482791 NCBI chr12:26,335,352...26,833,197
Ensembl chr12:26,335,352...26,833,194
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO protein:decreased expression:brainstem RGD PMID:22987392 RGD:8662893 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160
JBrowse link
G KDR kinase insert domain receptor IEP protein:decreased expression:spinal cord RGD PMID:16410746 RGD:1580568 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G KEAP1 kelch like ECH associated protein 1 IEP mRNA:increased expression:primary motor cortex (human) RGD PMID:18957896 RGD:6893397 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
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 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
JBrowse link
G KIF5A kinesin family member 5A IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr12:57,550,039...57,586,633
Ensembl chr12:57,546,026...57,586,633
Ensembl chr12:57,546,026...57,586,633
JBrowse link
G LOC108903148 10p13 OPTN distal Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr10:13,108,545...13,110,667 JBrowse link
G LRRK2 leucine rich repeat kinase 2 IEP mRNA:increased expression:skeletal muscle RGD PMID:21375368 RGD:5508417 NCBI chr12:40,224,890...40,369,285
Ensembl chr12:40,196,744...40,369,285
JBrowse link
G MAML1 mastermind like transcriptional coactivator 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 5:179,732,822...179,777,283
Ensembl chr 5:179,732,822...179,777,283
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr20:34,546,823...34,560,345
Ensembl chr20:34,546,854...34,560,345
JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr 6:136,557,046...136,793,098
Ensembl chr 6:136,557,046...136,792,477
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr 6:36,027,711...36,122,964
Ensembl chr 6:36,027,677...36,111,236
JBrowse link
G MMP1 matrix metallopeptidase 1 IEP protein:increased expression:serum (human) RGD PMID:19796283 RGD:7207054 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
JBrowse link
G MMP2 matrix metallopeptidase 2 severity IEP
ISO
protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord
RGD PMID:19796283, PMID:20441996 RGD:7207054, RGD:13204793 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 severity IEP
ISO
protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord
RGD PMID:19796283, PMID:20441996 RGD:7207054, RGD:13204793 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MOBP myelin associated oligodendrocyte basic protein EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:27455348 NCBI chr 3:39,467,680...39,529,497
Ensembl chr 3:39,467,198...39,529,479
JBrowse link
G MSTN myostatin ISO RGD PMID:16837207 RGD:2303556 NCBI chr 2:190,055,700...190,062,729
Ensembl chr 2:190,055,700...190,062,729
JBrowse link
G MT1A metallothionein 1A ISO mRNA:increased expression:spinal cord (mouse) RGD PMID:16179515 RGD:6484130 NCBI chr16:56,638,666...56,640,087
Ensembl chr16:56,638,666...56,640,087
JBrowse link
G MT1X metallothionein 1X ISO mRNA:increased expression:spinal cord (mouse) RGD PMID:16179515 RGD:6484130 NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
JBrowse link
G MT2A metallothionein 2A onset ISO mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse) RGD PMID:18000159 RGD:6482832 NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
JBrowse link
G MT3 metallothionein 3 ISO
IEP
RGD PMID:17097207, PMID:12388585, PMID:12417341 RGD:6480495, RGD:6480627, RGD:6480625 NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility
no_association
IAGP DNA:polymorphism: :c.677C>T(human) RGD PMID:21128869, PMID:21868135 RGD:11565111, RGD:11565173 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTNR1A melatonin receptor 1A disease_progression ISO protein:decreased expression:spinal chord RGD PMID:23537713 RGD:13524569 NCBI chr 4:186,532,769...186,555,567
Ensembl chr 4:186,533,655...186,555,567
JBrowse link
G MTREX Mtr4 exosome RNA helicase IEP mRNA:increased expression:peripheral blood lymphocyte (human) RGD PMID:23006766 RGD:11041891 NCBI chr 5:55,307,989...55,425,579
Ensembl chr 5:55,307,989...55,425,579
JBrowse link
G NEFH neurofilament heavy treatment IAGP
ISO
DNA:deletions:cds:multiple (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar PMID:25741868, PMID:9931323, PMID:10686419 RGD:1302518, RGD:13525000 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
JBrowse link
G NEFL neurofilament light treatment
disease_progression
ISO
IDA
protein:increased expression:serum, csf RGD PMID:10686419, PMID:26273687 RGD:13525000, RGD:13525006 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,957,110
Ensembl chr 8:24,950,955...24,957,110
JBrowse link
G NEFM neurofilament medium ISO RGD PMID:16006557 RGD:9698444 NCBI chr 8:24,913,761...24,919,093
Ensembl chr 8:24,913,758...24,919,098
JBrowse link
G NEK1 NIMA related kinase 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:26945885, PMID:27455347 NCBI chr 4:169,392,809...169,612,629
Ensembl chr 4:169,392,857...169,612,629
Ensembl chr 4:169,392,857...169,612,629
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 treatment IEP
ISO
mRNA, protein:decreased expression:primary motor cortex, spinal cord (human) RGD PMID:18957896, PMID:22056419 RGD:6893397, RGD:10412690 NCBI chr 2:177,230,303...177,265,131
Ensembl chr 2:177,227,595...177,392,697
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:spinal cord (mouse) RGD PMID:21867702 RGD:5509065 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NOTCH1 notch receptor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G OPTN optineurin IEP
IAGP
EXP
protein:increased expression:spinal cord, neuron
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
DNA:deletion, missense mutation, nonsense mutation:exon:p.Q398X, p.E478G (human)
DNA:missense mutations, nonsense mutation:cds, intron:multiple
ClinVar
CTD
PMID:21059646, PMID:25096716, PMID:25741868, PMID:21825243, PMID:20428114, PMID:21613650 RGD:6480502, RGD:6480506, RGD:6480504 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308
JBrowse link
G PARK7 Parkinsonism associated deglycase IAGP ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505
JBrowse link
G PFN1 profilin 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061
JBrowse link
G PGF placental growth factor IEP RGD PMID:22119626 RGD:6483573 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
JBrowse link
G PLA2G4A phospholipase A2 group IVA EXP CTD Direct Evidence: marker/mechanism CTD PMID:15816863 NCBI chr 1:186,828,949...186,988,981
Ensembl chr 1:186,828,949...186,988,981
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
JBrowse link
G PON1 paraoxonase 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:28070599 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PON2 paraoxonase 2 IAGP DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2 RGD PMID:16822964 RGD:5509925 NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329
JBrowse link
G PON3 paraoxonase 3 IAGP DNA:SNP:intron:rs10487132, association with LD block containing both PON3 and PON2
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar PMID:25741868, PMID:28492532, PMID:16822964 RGD:5509925 NCBI chr 7:95,359,872...95,396,375
Ensembl chr 7:95,359,872...95,396,375
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha IMP
IEP
ISO
human gene in mouse model
mRNA:decreased expression:motor cortex, muscle (human)
mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse)
RGD PMID:22102466, PMID:23147503, PMID:23147503 RGD:6484265, RGD:7242019, RGD:7242019 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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 chr19:48,872,392...48,876,062
Ensembl chr19:48,872,421...48,876,058
JBrowse link
G PRPH peripherin IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to ClinVar PMID:15322088, PMID:15446584, PMID:25741868, PMID:28492532 NCBI chr12:49,295,144...49,298,698
Ensembl chr12:49,293,252...49,298,686
JBrowse link
G PSMC4 proteasome 26S subunit, ATPase 4 ISS MouseDO NCBI chr19:39,971,150...39,981,764
Ensembl chr19:39,971,165...39,981,764
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IEP
EXP
protein:increased expression:spinal cord, neuron, glia
CTD Direct Evidence: marker/mechanism
CTD PMID:11220737, PMID:15816863, PMID:14511332 RGD:5688235 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,423
JBrowse link
G PTPRZ1 protein tyrosine phosphatase receptor type Z1 treatment ISO RGD PMID:25113670 RGD:9590123 NCBI chr 7:121,873,161...122,062,036
Ensembl chr 7:121,873,089...122,062,036
JBrowse link
G RARA retinoic acid receptor alpha ISO RGD PMID:17956549 RGD:2314289 NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643
JBrowse link
G RNASE4 ribonuclease A family member 4 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr14:20,684,560...20,701,216
Ensembl chr14:20,684,560...20,701,216
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:18000159 RGD:6482832 NCBI chr21:35,372,507...35,580,764
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:18000159 RGD:6482832 NCBI chr21:34,787,801...35,049,334
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G SARM1 sterile alpha and TIR motif containing 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr17:28,371,694...28,404,049
Ensembl chr17:28,364,356...28,404,049
JBrowse link
G SCFD1 sec1 family domain containing 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:27455348 NCBI chr14:30,622,254...30,735,850
Ensembl chr14:30,622,311...30,735,850
JBrowse link
G SERPINF1 serpin family F member 1 IEP protein:increased expression:cerebrospinal fluid (human) RGD PMID:12067231 RGD:8554892 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:132,261,356...132,356,726
Ensembl chr 9:132,261,356...132,354,986
JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24885036 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,809
JBrowse link
G SIRT1 sirtuin 1 ISO protein:increased expression:spinal cord (mouse) RGD PMID:17581637 RGD:2290573 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SLC11A2 solute carrier family 11 member 2 onset IAGP DNA:SNP: :rs407135 (human) RGD PMID:21276595 RGD:5688710 NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
JBrowse link
G SLC1A2 solute carrier family 1 member 2 IEP
EXP
mRNA:processing errors:spinal cord, motor cortex (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:11723166, PMID:9539131 RGD:1302517 NCBI chr11:35,251,205...35,420,058
Ensembl chr11:35,251,205...35,420,063
JBrowse link
G SLC31A1 solute carrier family 31 member 1 disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 9:113,221,544...113,264,492
Ensembl chr 9:113,221,544...113,264,492
JBrowse link
G SLC6A1 solute carrier family 6 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20132478 NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247
JBrowse link
G SOD1 superoxide dismutase 1 treatment IAGP
EXP
IDA
IEP
human gene in a rat model;DNA:missense mutation:cds:p.G93A (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
protein:increased expression:cerebrospinal fluid (human)
ClinVar
CTD
PMID:7887412, PMID:9065559, PMID:10025816, PMID:10930589, PMID:11220737, PMID:11590119, PMID:11723166, PMID:12586733, PMID:12626432, PMID:16495328, PMID:17097207, PMID:17319283, PMID:17496168, PMID:18233996, PMID:19635794, PMID:19929749, PMID:20132483, PMID:20177826, PMID:20348957, PMID:20515040, PMID:21867702, PMID:23583883, PMID:24885036, PMID:25164820, PMID:25741868, PMID:30503815, PMID:18947433, PMID:26826269, PMID:23147550 RGD:2312367, RGD:13524551, RGD:8655880 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,622...31,668,931
Ensembl chr21:31,659,622...31,668,931
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8866423 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP 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 chr15:44,562,696...44,663,678
Ensembl chr15:44,562,696...44,663,678
JBrowse link
G SQSTM1 sequestosome 1 ISO
IAGP
EXP
mRNA:increased expression:spinal cord
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19765191, PMID:25741868, PMID:28492532, PMID:23851366 RGD:11561951 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078
JBrowse link
G SS18L1 SS18L1 subunit of BAF chromatin remodeling complex IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr20:62,143,765...62,182,514
Ensembl chr20:62,143,769...62,182,514
JBrowse link
G STEAP2 STEAP2 metalloreductase disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 7:90,211,740...90,243,408
Ensembl chr 7:90,167,590...90,238,137
JBrowse link
G TARDBP TAR DNA binding protein disease_progression IMP
EXP
IAGP
IEP
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:
DNA:mutation:cds:p.G295S(human)
protein:increased phosphorylation:brain
DNA:mutation:cds:p.M337V(human)
CTD PMID:18372902, PMID:21167262, PMID:22879928, PMID:23104007, PMID:24019256, PMID:24252504, PMID:21752789, PMID:18372902, PMID:21651514, PMID:17023659, PMID:18309045, PMID:21998667 RGD:5687134, RGD:5687192, RGD:5687173, RGD:5687158, RGD:5687157, RGD:5687137 NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,662...11,030,528
Ensembl chr 1:11,012,662...11,030,528
Ensembl chr 1:11,012,662...11,030,528
JBrowse link
G TFAM transcription factor A, mitochondrial severity IMP RGD PMID:22354563 RGD:6767572 NCBI chr10:58,385,409...58,399,220
Ensembl chr10:58,385,345...58,399,220
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:spinal cord RGD PMID:13678668 RGD:12904653 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF21 TNF receptor superfamily member 21 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24113175 NCBI chr 6:47,231,532...47,309,910
Ensembl chr 6:47,231,532...47,309,905
JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577
JBrowse link
G TP53 tumor protein p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17434459 NCBI chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to ClinVar PMID:16051700, PMID:19405049, PMID:25741868 NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797
JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:30311386 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848
JBrowse link
G TXNRD1 thioredoxin reductase 1 susceptibility IAGP DNA:SNPs:intron:rs6539137, rs4630362 (human) RGD PMID:18996185 RGD:5685032 NCBI chr12:104,215,779...104,350,307
Ensembl chr12:104,215,779...104,350,307
JBrowse link
G UBQLN2 ubiquilin 2 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:21857683, PMID:25333069, PMID:25616961, PMID:25741868, PMID:26075709, PMID:28492532, PMID:21857683 RGD:5147832 NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868
JBrowse link
G UNC13A unc-13 homolog A no_association IAGP
EXP
DNA:SNP:intron:rs12608932 (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19734901, PMID:25741868, PMID:20385924, PMID:19734901 RGD:5686382, RGD:5686384 NCBI chr19:17,601,328...17,688,344
Ensembl chr19:17,601,328...17,688,365
JBrowse link
G VAPB VAMP associated protein B and C IAGP DNA:missense mutation:cds:p.P56S (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, typical
ClinVar PMID:15372378, PMID:16187141, PMID:16967488, PMID:17804640, PMID:18322265, PMID:18677189, PMID:19183264, PMID:20008544, PMID:20377183, PMID:20447143, PMID:20577002, PMID:21275991, PMID:21685205, PMID:21933185, PMID:22131369, PMID:22258555, PMID:22454507, PMID:23333387, PMID:23446633, PMID:23771029, PMID:24212516, PMID:24681403, PMID:26467025, PMID:26566915, PMID:27978769, PMID:28492532, PMID:15372378 RGD:5688230 NCBI chr20:58,389,211...58,451,101
Ensembl chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101
JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:15034582, PMID:20604808, PMID:22270372, PMID:22909335, PMID:23333620, PMID:25617006, PMID:25741868, PMID:28492532 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,056,064...35,072,627
JBrowse link
G VDR vitamin D receptor susceptibility IAGP DNA:SNP:intron:rs7975232(human) RGD PMID:26190642 RGD:11560790 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G VEGFA vascular endothelial growth factor A IEP RGD PMID:16410746 RGD:1580568 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G ZNF106 zinc finger protein 106 ISS MouseDO NCBI chr15:42,412,823...42,491,141
Ensembl chr15:42,412,823...42,491,141
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
JBrowse link
G BSG basigin (Ok blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:571,283...583,493
Ensembl chr19:571,277...583,493
JBrowse link
G CALB2 calbindin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:71,358,723...71,390,438
Ensembl chr16:71,358,713...71,390,436
JBrowse link
G CASP1 caspase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:105,025,443...105,035,591
Ensembl chr11:105,025,443...105,035,250
JBrowse link
G CD68 CD68 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
JBrowse link
G CD7 CD7 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:82,314,865...82,320,829
Ensembl chr17:82,314,868...82,317,608
JBrowse link
G CLU clusterin EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G CNTF ciliary neurotrophic factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:11951178 NCBI chr11:58,622,665...58,625,733
Ensembl chr11:58,622,665...58,625,733
JBrowse link
G CREBBP CREB binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:3,725,054...3,880,727
Ensembl chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CST3 cystatin C EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
JBrowse link
G CTSD cathepsin D EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,755...1,764,573
JBrowse link
G DBX1 developing brain homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:20,156,155...20,160,475
Ensembl chr11:20,156,155...20,160,475
JBrowse link
G DCTN1 dynactin subunit 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar
OMIM
PMID:12062019, PMID:12627231, PMID:15326253, PMID:16240349, PMID:16505168, PMID:17824900, PMID:18094236, PMID:18364389, PMID:18812314, PMID:19279216, PMID:19506225, PMID:22777741, PMID:23143281, PMID:23881933, PMID:24484619, PMID:24627108, PMID:24881494, PMID:25025039, PMID:25299611, PMID:25382069, PMID:25741868, PMID:26392352, PMID:26429889, PMID:26467025, PMID:26662454, PMID:27132499, PMID:27573046, PMID:28130640, PMID:28430856, PMID:28492532, PMID:28717666, PMID:28792508, PMID:29089398, PMID:29339765, PMID:29525180 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087
JBrowse link
G FANCG FA complementation group G IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,016
Ensembl chr 9:35,073,835...35,080,016
JBrowse link
G FGF6 fibroblast growth factor 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:4,434,142...4,445,799
Ensembl chr12:4,428,155...4,445,614
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr 6:109,691,296...109,825,431
Ensembl chr 6:109,690,609...109,878,098
Ensembl chr 6:109,690,609...109,878,098
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G FMO1 flavin containing dimethylaniline monoxygenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17127561 NCBI chr 1:171,248,473...171,285,978
Ensembl chr 1:171,248,471...171,285,978
JBrowse link
G FOLH1 folate hydrolase 1 treatment ISO RGD PMID:12876198 RGD:737756 NCBI chr11:49,145,092...49,208,642
Ensembl chr11:49,145,092...49,208,638
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
JBrowse link
G FUS FUS RNA binding protein IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,110...31,194,871
Ensembl chr16:31,180,110...31,194,871
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981
JBrowse link
G GBX2 gastrulation brain homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:236,165,236...236,168,386
Ensembl chr 2:236,165,236...236,168,386
JBrowse link
G GDI1 GDP dissociation inhibitor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:154,437,154...154,443,467
Ensembl chr  X:154,436,913...154,443,467
JBrowse link
G GFAP glial fibrillary acidic protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:44,903,159...44,915,552
Ensembl chr17:44,903,159...44,916,937
JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15264227 NCBI chr  X:123,184,278...123,490,915
Ensembl chr  X:123,184,153...123,490,915
JBrowse link
G GSX2 GS homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:54,100,163...54,102,498
Ensembl chr 4:54,099,523...54,102,498
JBrowse link
G HSF1 heat shock transcription factor 1 EXP CTD Direct Evidence: therapeutic CTD PMID:24256636 NCBI chr 8:144,291,603...144,314,720
Ensembl chr 8:144,291,591...144,314,720
JBrowse link
G INA internexin neuronal intermediate filament protein alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:103,277,138...103,290,346
Ensembl chr10:103,277,138...103,290,346
JBrowse link
G JAK3 Janus kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:17,824,782...17,848,071
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G JUND JunD proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:18,279,694...18,281,622
Ensembl chr19:18,279,694...18,281,622
JBrowse link
G KIF3C kinesin family member 3C EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:25,926,598...25,982,740
Ensembl chr 2:25,926,598...25,982,749
JBrowse link
G KIF5A kinesin family member 5A ISO mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr12:57,550,039...57,586,633
Ensembl chr12:57,546,026...57,586,633
Ensembl chr12:57,546,026...57,586,633
JBrowse link
G KIF5C kinesin family member 5C ISO mRNA:increased expression:frontal cortex, cerebellum (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr 2:148,875,227...149,026,759
Ensembl chr 2:148,875,227...149,026,759
JBrowse link
G LAT linker for activation of T cells EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:28,984,803...28,990,784
Ensembl chr16:28,984,826...28,990,783
Ensembl chr16:28,984,826...28,990,783
JBrowse link
G LDLR low density lipoprotein receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:11,089,432...11,133,820
Ensembl chr19:11,089,462...11,133,820
Ensembl chr19:11,089,462...11,133,820
JBrowse link
G MASP2 mannan binding lectin serine peptidase 2 IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:24033266, PMID:28492532 NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,026,523...11,047,239
JBrowse link
G MT1X metallothionein 1X ISO CTD Direct Evidence: therapeutic CTD PMID:24163136 NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
JBrowse link
G NEFH neurofilament heavy IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
JBrowse link
G OTOG otogelin EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,373...17,647,150
JBrowse link
G PDGFA platelet derived growth factor subunit A EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 7:497,245...520,668
Ensembl chr 7:497,258...520,296
JBrowse link
G PENK proenkephalin EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:56,440,957...56,446,641
Ensembl chr 8:56,436,674...56,446,671
JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17204329 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PRPH peripherin IAGP OMIM NCBI chr12:49,295,144...49,298,698
Ensembl chr12:49,293,252...49,298,686
JBrowse link
G RXRA retinoid X receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585
JBrowse link
G SELPLG selectin P ligand EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:108,621,895...108,633,894
Ensembl chr12:108,621,895...108,633,894
Ensembl chr12:108,621,895...108,633,894
JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:23757202, PMID:25741868, PMID:28492532 NCBI chr 9:132,261,356...132,356,726
Ensembl chr 9:132,261,356...132,354,986
JBrowse link
G SHC1 SHC adaptor protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:154,962,298...154,974,492
Ensembl chr 1:154,962,298...154,974,395
JBrowse link
G SIX2 SIX homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:45,005,182...45,009,645
Ensembl chr 2:45,005,182...45,009,452
JBrowse link
G SNAI1 snail family transcriptional repressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:49,982,980...49,988,886
Ensembl chr20:49,982,980...49,988,886
JBrowse link
G SNCG synuclein gamma ISS OMIM:105400 MouseDO NCBI chr10:86,955,759...86,963,260
Ensembl chr10:86,958,599...86,963,258
JBrowse link
G SOD1 superoxide dismutase 1 IAGP
EXP
DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
DNA:missense mutation:cds:p.D90A (human)
DNA:missense mutation:cds:p.I113T (human)
ClinVar
CTD
OMIM
PMID:1259395, PMID:7496169, PMID:7501156, PMID:7635196, PMID:7643359, PMID:7647793, PMID:7655469, PMID:7655471, PMID:7673954, PMID:7755363, PMID:7836951, PMID:7887412, PMID:7891072, PMID:7911198, PMID:7951249, PMID:7985500, PMID:7997024, PMID:8004110, PMID:8058797, PMID:8069312, PMID:8105280, PMID:8179602, PMID:8298637, PMID:8351519, PMID:8446170, PMID:8528216, PMID:8560268, PMID:8572658, PMID:8650157, PMID:8682505, PMID:8813280, PMID:8830861, PMID:8875253, PMID:8900247, PMID:8909456, PMID:8938700, PMID:8967745, PMID:8990014, PMID:9008494, PMID:9029070, PMID:9052802, PMID:9101297, PMID:9228005, PMID:9365366, PMID:9455977, PMID:9506558, PMID:9706719, PMID:9743498, PMID:9817920, PMID:9857958, PMID:10400992, PMID:10430435, PMID:10439968, PMID:10624810, PMID:10732812, PMID:10735277, PMID:10764647, PMID:10809943, PMID:10889018, PMID:11181815, PMID:11220750, PMID:11284995, PMID:11346368, PMID:11369193, PMID:11464950, PMID:11467054, PMID:11675877, PMID:11676987, PMID:11796754, PMID:11951178, PMID:12127151, PMID:12165567, PMID:12358759, PMID:12402272, PMID:12442272, PMID:12482932, PMID:12729761, PMID:12732844, PMID:12783432, PMID:12792143, PMID:12963370, PMID:13129804, PMID:13804989, PMID:14506936, PMID:14623191, PMID:14658402, PMID:14755739, PMID:14875225, PMID:14970233, PMID:15056757, PMID:15069187, PMID:15096637, PMID:15258228, PMID:15264227, PMID:15522870, PMID:15579468, PMID:15634772, PMID:15843422, PMID:15952898, PMID:15987780, PMID:16020530, PMID:16038516, PMID:16105836, PMID:16291929, PMID:16476815, PMID:16674979, PMID:16793335, PMID:16945901, PMID:17146286, PMID:17255946, PMID:17257622, PMID:17319283, PMID:17333220, PMID:17394531, PMID:17420412, PMID:17453632, PMID:17486090, PMID:17543992, PMID:18055113, PMID:18301754, PMID:18319614, PMID:18428003, PMID:18504130, PMID:18608106, PMID:18666828, PMID:18669821, PMID:18951903, PMID:19139308, PMID:19176896, PMID:19196430, PMID:19227972, PMID:19259395, PMID:19332692, PMID:19363716, PMID:19483195, PMID:19618436, PMID:19635794, PMID:19685200, PMID:19703565, PMID:19751676, PMID:19800308, PMID:19815002, PMID:19847927, PMID:19922148, PMID:19965850, PMID:20079423, PMID:20184515, PMID:20184519, PMID:20184521, PMID:20184893, PMID:20189984, PMID:20309572, PMID:20385392, PMID:20399791, PMID:20404329, PMID:20404910, PMID:20460594, PMID:20472325, PMID:20485746, PMID:20540686, PMID:20562451, PMID:20577002, PMID:20801718, PMID:21140194, PMID:21226712, PMID:21257910, PMID:21329474, PMID:21506602, PMID:21549128, PMID:21549454, PMID:21603025, PMID:21651514, PMID:21700707, PMID:21700728, PMID:21901496, PMID:21930207, PMID:22094223, PMID:22264771, PMID:22292843, PMID:22332887, PMID:22475618, PMID:22499346, PMID:22589106, PMID:22595972, PMID:22645277, PMID:22647583, PMID:22670878, PMID:22722621, PMID:22941224, PMID:22985433, PMID:23062701, PMID:23100398, PMID:23118898, PMID:23280792, PMID:23286750, PMID:23291526, PMID:23321002, PMID:23447461, PMID:23541756, PMID:23612299, PMID:23726301, PMID:23760509, PMID:23773010, PMID:23784844, PMID:23792044, PMID:23837654, PMID:23881933, PMID:23949607, PMID:23962495, PMID:24134191, PMID:24139042, PMID:24163136, PMID:24256636, PMID:24325798, PMID:24369116, PMID:24439480, PMID:24472010, PMID:24591457, PMID:24704493, PMID:24769475, PMID:24793051, PMID:24908169, PMID:24971881, PMID:25025039, PMID:25052939, PMID:25096579, PMID:25109764, PMID:25178511, PMID:25299611, PMID:25382069, PMID:25509359, PMID:25578810, PMID:25600987, PMID:25741868, PMID:25792239, PMID:25806427, PMID:26059445, PMID:26069299, PMID:26362407, PMID:26467025, PMID:26694608, PMID:26742954, PMID:26791423, PMID:26843957, PMID:27257061, PMID:27261500, PMID:27584932, PMID:27604643, PMID:27810918, PMID:27884173, PMID:27978769, PMID:28003435, PMID:28089114, PMID:28089144, PMID:28105640, PMID:28222900, PMID:28291249, PMID:28325066, PMID:28401346, PMID:28430856, PMID:28492532, PMID:28620717, PMID:28642336, PMID:28877271, PMID:29367447, PMID:29861044, PMID:30311386, PMID:30637102, PMID:8446170, PMID:10809943, PMID:8815157, PMID:20184521 RGD:737689, RGD:8655873, RGD:8655862, RGD:8655618 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,622...31,668,931
Ensembl chr21:31,659,622...31,668,931
JBrowse link
G SOD2 superoxide dismutase 2 ISS OMIM:105400 MouseDO NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TARDBP TAR DNA binding protein IAGP
EXP
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19411082, PMID:20082726, PMID:20675015, PMID:20708823, PMID:22575358, PMID:24033266, PMID:24477737, PMID:26467025, PMID:28492532 NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,662...11,030,528
Ensembl chr 1:11,012,662...11,030,528
Ensembl chr 1:11,012,662...11,030,528
JBrowse link
G TIAM1 TIAM Rac1 associated GEF 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr21:31,118,418...31,559,977
Ensembl chr21:31,118,416...31,559,977
JBrowse link
G TLE3 TLE family member 3, transcriptional corepressor EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr15:70,047,790...70,098,171
Ensembl chr15:70,047,790...70,098,176
JBrowse link
G TMSB4X thymosin beta 4 X-linked EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:12,975,110...12,977,223
Ensembl chr  X:12,975,110...12,977,227
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G UBQLN2 ubiquilin 2 IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868
JBrowse link
G VAPB VAMP associated protein B and C IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr20:58,389,211...58,451,101
Ensembl chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101
JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,056,064...35,072,627
JBrowse link
G VEGFA vascular endothelial growth factor A ISS OMIM:105400 MouseDO NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VIM vimentin EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593
JBrowse link
G VPS54 VPS54 subunit of GARP complex ISS OMIM:105400 MouseDO NCBI chr 2:63,892,149...64,019,428
Ensembl chr 2:63,892,146...64,019,428
JBrowse link
G WNT7A Wnt family member 7A EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
G XIAP X-linked inhibitor of apoptosis EXP CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,724...123,913,976
Ensembl chr  X:123,859,724...123,913,976
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 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,026,523...11,047,239
JBrowse link
G TARDBP TAR DNA binding protein IAGP ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10
ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
ClinVar
OMIM
PMID:18068872, PMID:18288693, PMID:18309045, PMID:18372902, PMID:18396105, PMID:18438952, PMID:18505686, PMID:18545701, PMID:18779421, PMID:18802454, PMID:18931000, PMID:19204172, PMID:19224587, PMID:19228676, PMID:19236453, PMID:19350673, PMID:19411082, PMID:19429692, PMID:19465477, PMID:19515851, PMID:19609911, PMID:19618195, PMID:19695877, PMID:19760257, PMID:19786775, PMID:19808791, PMID:19864663, PMID:19959528, PMID:20031275, PMID:20082726, PMID:20154440, PMID:20301761, PMID:20472325, PMID:20555136, PMID:20558945, PMID:20577002, PMID:20600671, PMID:20624952, PMID:20645878, PMID:20675015, PMID:20697052, PMID:20708823, PMID:20806063, PMID:21123567, PMID:21173160, PMID:21220647, PMID:21403029, PMID:21438137, PMID:21752789, PMID:21829392, PMID:22406069, PMID:22456481, PMID:22539580, PMID:22563080, PMID:22575358, PMID:22645277, PMID:23231971, PMID:23235148, PMID:23327806, PMID:23345247, PMID:23401527, PMID:23457265, PMID:23827948, PMID:24117534, PMID:24143176, PMID:24300238, PMID:24477737, PMID:24507191, PMID:25442115, PMID:25588603, PMID:25741868, PMID:26096467, PMID:26467025, PMID:26777436, PMID:26883171, PMID:28089114, PMID:28286471, PMID:28335005, PMID:28430856, PMID:28492532, PMID:28709720, PMID:28889094, PMID:31124595 NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,662...11,030,528
Ensembl chr 1:11,012,662...11,030,528
Ensembl chr 1:11,012,662...11,030,528
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 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11 ClinVar
OMIM
PMID:17572665, PMID:18180444, PMID:18261132, PMID:18556664, PMID:19118816, PMID:20630877, PMID:21655088, PMID:21705420, PMID:22131434, PMID:22998443, PMID:23336365, PMID:23489662, PMID:24878229, PMID:25510381, PMID:25614874, PMID:25617005, PMID:25741868, PMID:26467025, PMID:28051077, PMID:28492532, PMID:29342275, PMID:29650794, PMID:30311386 NCBI chr 6:109,691,296...109,825,431
Ensembl chr 6:109,690,609...109,878,098
Ensembl chr 6:109,690,609...109,878,098
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
amyotrophic lateral sclerosis type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC108903148 10p13 OPTN distal Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 ClinVar PMID:11834836, PMID:11978762, PMID:12208142, PMID:15326130, PMID:15761120, PMID:16358725, PMID:16619239, PMID:17122126, PMID:17293779, PMID:17615537, PMID:20671613, PMID:21613650, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr10:13,108,545...13,110,667 JBrowse link
G OPTN optineurin IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 ClinVar
OMIM
PMID:11834836, PMID:11978762, PMID:12208142, PMID:12789137, PMID:12939304, PMID:14597044, PMID:15226658, PMID:15326130, PMID:15761120, PMID:16205626, PMID:16358725, PMID:16619239, PMID:17122126, PMID:17293779, PMID:17615537, PMID:19096531, PMID:19145250, PMID:19172505, PMID:19672125, PMID:20428114, PMID:20671613, PMID:20981092, PMID:21074290, PMID:21217154, PMID:21220178, PMID:21550138, PMID:21613650, PMID:21852022, PMID:22402017, PMID:22708870, PMID:22892313, PMID:22995991, PMID:23062601, PMID:25333069, PMID:25741868, PMID:25943890, PMID:26467025, PMID:26566915, PMID:28492532, PMID:29650794 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308
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 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14 without frontotemporal dementia
ClinVar
OMIM
PMID:15034582, PMID:16247064, PMID:16321991, PMID:16790606, PMID:16984901, PMID:17329348, PMID:17763460, PMID:17889967, PMID:18341608, PMID:19225410, PMID:19237541, PMID:19364651, PMID:19704082, PMID:20008565, PMID:20104022, PMID:20512113, PMID:20604808, PMID:21145000, PMID:21320982, PMID:21387114, PMID:21816654, PMID:21822278, PMID:21920633, PMID:21984748, PMID:22078486, PMID:22137929, PMID:22270372, PMID:22686199, PMID:22898872, PMID:22900631, PMID:22909335, PMID:23029473, PMID:23056506, PMID:23152587, PMID:23169451, PMID:23333620, PMID:23498975, PMID:24196964, PMID:24829604, PMID:25125609, PMID:25388089, PMID:25492614, PMID:25617006, PMID:25618255, PMID:25741868, PMID:25775548, PMID:26105173, PMID:26467025, PMID:26555887, PMID:27209344, PMID:27226613, PMID:27768726, PMID:27790088, PMID:28130640, PMID:28360103, PMID:28430856, PMID:28492532, PMID:28692196, PMID:29754758, PMID:29899994 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,056,064...35,072,627
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 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia ClinVar
OMIM
PMID:21857683, PMID:24771548, PMID:25333069, PMID:25616961, PMID:25741868, PMID:26075709, PMID:28492532 NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868
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 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 16, juvenile ClinVar
OMIM
PMID:21842496, PMID:24088041, PMID:25704016, PMID:25741868, PMID:26205306, PMID:26633545, PMID:28492532 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,809
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 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 17 ClinVar
OMIM
PMID:16431024, PMID:16807408, PMID:16941655, PMID:20352044, PMID:20592581, PMID:21222599, PMID:25741868, PMID:26836416, PMID:28430856, PMID:28492532, PMID:29431110, PMID:29525180 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556
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 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 18 ClinVar
OMIM
PMID:22801503 NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061
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 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 19 ClinVar
OMIM
PMID:24119685, PMID:25741868 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
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 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 20 ClinVar
OMIM
PMID:23455423 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088
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 IAGP ClinVar Annotator: match by term: Myopathy, distal, 2
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 21
ClinVar
OMIM
PMID:9837826, PMID:19344878, PMID:24686783, PMID:25154462, PMID:25185957, PMID:25677933, PMID:25741868, PMID:25771394, PMID:25952333, PMID:26467025, PMID:26493020, PMID:26528920, PMID:26780671, PMID:28492532, PMID:29525178 NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671
JBrowse link
G SNHG4 small nucleolar RNA host gene 4 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 21 ClinVar NCBI chr 5:139,273,752...139,283,184
Ensembl chr 5:139,274,102...139,284,899
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 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
ClinVar
OMIM
PMID:25374358 NCBI chr 2:219,249,710...219,254,740
Ensembl chr 2:219,249,710...219,278,170
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 IAGP ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 23 ClinVar
OMIM
PMID:28469040 NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572
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 IAGP ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 ClinVar
OMIM
PMID:21211617, PMID:22499340, PMID:23757202, PMID:24033266, PMID:25741868, PMID:26945885, PMID:27455347, PMID:28089114, PMID:28123176, PMID:28492532, PMID:29068549 NCBI chr 4:169,392,809...169,612,629
Ensembl chr 4:169,392,857...169,612,629
Ensembl chr 4:169,392,857...169,612,629
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 IAGP ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 ClinVar
OMIM
PMID:29342275, PMID:29566793 NCBI chr12:57,550,039...57,586,633
Ensembl chr12:57,546,026...57,586,633
Ensembl chr12:57,546,026...57,586,633
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 IAGP DNA:mutations:cds:
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive
ClinVar
OMIM
PMID:12840784, PMID:12858291, PMID:19251627, PMID:19251628, PMID:19450904, PMID:19741215, PMID:19861302, PMID:20018407, PMID:20124201, PMID:20138404, PMID:20142531, PMID:20385912, PMID:20544928, PMID:20577002, PMID:20579074, PMID:20606625, PMID:20660363, PMID:20668259, PMID:20668261, PMID:20699327, PMID:21158017, PMID:21261515, PMID:21280085, PMID:21604077, PMID:21881207, PMID:21907581, PMID:21943958, PMID:21949354, PMID:22055719, PMID:22292843, PMID:22340366, PMID:22645277, PMID:22722621, PMID:22863194, PMID:22980027, PMID:23046859, PMID:23056579, PMID:23085990, PMID:23577159, PMID:23731953, PMID:23834483, PMID:23881933, PMID:24033266, PMID:24080306, PMID:24204307, PMID:24262168, PMID:24280224, PMID:24439481, PMID:24899262, PMID:24908169, PMID:25173930, PMID:25274782, PMID:25289647, PMID:25324524, PMID:25382069, PMID:25457557, PMID:25585530, PMID:25625564, PMID:25631824, PMID:25741868, PMID:26251528, PMID:26452761, PMID:26467025, PMID:26601740, PMID:26725112, PMID:26795035, PMID:27123482, PMID:28273913, PMID:28492532, PMID:28642336, PMID:30279455, PMID:30349096, PMID:30879340, PMID:19251628 RGD:9685712 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,110...31,194,871
Ensembl chr16:31,180,110...31,194,871
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 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:58,459,101...58,515,399
Ensembl chr20:58,459,101...58,515,399
JBrowse link
G ATP5F1E ATP synthase F1 subunit epsilon IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:59,025,475...59,032,335
Ensembl chr20:59,025,475...59,032,345
JBrowse link
G CTSZ cathepsin Z IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:58,995,185...59,007,254
Ensembl chr20:58,995,185...59,007,254
JBrowse link
G EDN3 endothelin 3 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:59,300,415...59,325,992
Ensembl chr20:59,300,443...59,325,992
JBrowse link
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GNAS-AS1 GNAS antisense RNA 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:58,818,918...58,850,903
Ensembl chr20:58,818,919...58,850,903
JBrowse link
G LINC01711 long intergenic non-protein coding RNA 1711 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:58,634,772...58,635,738
Ensembl chr20:58,634,772...58,635,738
JBrowse link
G MIR296 microRNA 296 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:58,817,615...58,817,694
Ensembl chr20:58,817,615...58,817,694
JBrowse link
G MIR298 microRNA 298 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:58,818,226...58,818,313
Ensembl chr20:58,818,226...58,818,313
JBrowse link
G NELFCD negative elongation factor complex member C/D IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:58,981,252...58,995,133
Ensembl chr20:58,981,208...58,995,133
JBrowse link
G NPEPL1 aminopeptidase like 1 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:58,689,131...58,715,844
Ensembl chr20:58,689,131...58,719,238
JBrowse link
G PRELID3B PRELI domain containing 3B IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:59,033,145...59,042,786
Ensembl chr20:59,033,145...59,042,809
JBrowse link
G STX16 syntaxin 16 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,253...58,679,526
JBrowse link
G TUBB1 tubulin beta 1 class VI IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:59,016,026...59,026,654
Ensembl chr20:59,019,429...59,026,654
Ensembl chr20:59,019,429...59,026,654
JBrowse link
G VAPB VAMP associated protein B and C IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 8
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8
ClinVar
OMIM
PMID:15372378, PMID:16187141, PMID:16967488, PMID:17804640, PMID:18322265, PMID:18677189, PMID:19183264, PMID:20008544, PMID:20377183, PMID:20447143, PMID:20577002, PMID:20940299, PMID:21275991, PMID:21685205, PMID:21933185, PMID:22131369, PMID:22258555, PMID:22454507, PMID:22878164, PMID:23333387, PMID:23446633, PMID:23771029, PMID:23971766, PMID:24212516, PMID:24681403, PMID:25741868, PMID:26362251, PMID:26467025, PMID:26566915, PMID:27978769, PMID:28492532 NCBI chr20:58,389,211...58,451,101
Ensembl chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101
JBrowse link
G ZNF831 zinc finger protein 831 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:59,123,388...59,259,113
Ensembl chr20:59,123,381...59,259,113
JBrowse link
amyotrophic lateral sclerosis type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANG angiogenin IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 9
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
ClinVar
OMIM
PMID:16501576, PMID:17462671, PMID:17703939, PMID:17886298, PMID:17900154, PMID:18087731, PMID:18852347, PMID:19153377, PMID:19363631, PMID:19444281, PMID:19449021, PMID:19488901, PMID:20577002, PMID:22190368, PMID:22292843, PMID:22384259, PMID:22499346, PMID:22522484, PMID:22645277, PMID:23047679, PMID:23155438, PMID:23447461, PMID:23463871, PMID:23665167, PMID:25382069, PMID:25741868, PMID:26255299, PMID:26467025, PMID:28444446, PMID:28492532 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
JBrowse link
G RNASE4 ribonuclease A family member 4 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 9
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
ClinVar PMID:16501576, PMID:17462671, PMID:17703939, PMID:17886298, PMID:17900154, PMID:18087731, PMID:18852347, PMID:19153377, PMID:19363631, PMID:19444281, PMID:19449021, PMID:19488901, PMID:20577002, PMID:22190368, PMID:22292843, PMID:22384259, PMID:22499346, PMID:22522484, PMID:22645277, PMID:23047679, PMID:23155438, PMID:23447461, PMID:23463871, PMID:23665167, PMID:25382069, PMID:25741868, PMID:26255299, PMID:26467025, PMID:28444446, PMID:28492532 NCBI chr14:20,684,560...20,701,216
Ensembl chr14:20,684,560...20,701,216
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 IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar PMID:28492532 NCBI chr 2:201,700,267...201,781,153
Ensembl chr 2:201,700,267...201,780,956
JBrowse link
G OPTN optineurin IAGP ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308
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 IAGP ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505
JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 susceptibility
no_association
IAGP
EXP
DNA:mutation:cds: p.T1482I (human)
CTD Direct Evidence: marker/mechanism
CTD
OMIM
PMID:16051700, PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797
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 IAGP OMIM NCBI chr 2:207,529,943...207,605,988
Ensembl chr 2:207,529,737...207,605,988
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 IAGP ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20190753 NCBI chr14:77,426,675...77,457,727
Ensembl chr14:77,426,675...77,457,952
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP
EXP
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr15:90,998,416...91,022,839
Ensembl chr15:90,998,416...91,022,603
Ensembl chr15:90,998,416...91,022,603
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 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:26004201, PMID:26752647 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:16826520, PMID:16826531 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:23236030, PMID:23261301, PMID:24782201, PMID:25099528, PMID:25708584, PMID:25741868 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,470...49,539,538
JBrowse link
G FOXG1 forkhead box G1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:30311386 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,766,787...28,770,277
Ensembl chr14:28,766,787...28,770,277
JBrowse link
G KIF1B kinesin family member 1B IAGP ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
JBrowse link
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 NCBI chr17:10,628,527...10,678,347
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G MYH8 myosin heavy chain 8 IAGP Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q RGD PMID:15282353 RGD:1600548 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950
JBrowse link
G MYOD1 myogenic differentiation 1 IAGP ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:31260566 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:8423615, PMID:11152147, PMID:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:31680123 NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
Ensembl chr18:10,666,483...11,149,569
JBrowse link
G RYR1 ryanodine receptor 1 IAGP 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 chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP 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 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP DNA:mutation:splice junction: RGD PMID:19542096 RGD:13209012 NCBI chr 6:152,121,684...152,637,395
Ensembl chr 6:152,121,684...152,637,801
JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita
ClinVar PMID:25741868, PMID:12592607 RGD:1599481 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680
JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868, PMID:28492532 NCBI chr11:1,919,551...1,938,704
Ensembl chr11:1,919,703...1,938,706
JBrowse link
G TPM2 tropomyosin 2 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:11738357, PMID:23757202, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr15:90,998,416...91,022,839
Ensembl chr15:90,998,416...91,022,603
Ensembl chr15:90,998,416...91,022,603
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018, PMID:24195946, PMID:25741868, PMID:28492532, PMID:30611313 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
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 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE ClinVar PMID:27782104 NCBI chr 6:151,654,148...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE
OMIM
ClinVar
PMID:19542096, PMID:24319099, PMID:25741868, PMID:26467025, PMID:27782104, PMID:28492532 NCBI chr 6:152,121,684...152,637,395
Ensembl chr 6:152,121,684...152,637,801
JBrowse link
G SYNE1-AS1 SYNE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE ClinVar PMID:25741868 NCBI chr 6:152,380,530...152,381,713
Ensembl chr 6:152,380,546...152,381,564
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 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 ClinVar
OMIM
PMID:25741868, PMID:28516161, PMID:29053766, PMID:30244176 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244
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 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar
OMIM
PMID:29432562 NCBI chr 4:101,023,418...101,348,295
Ensembl chr 4:101,023,409...101,348,278
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 IAGP ClinVar Annotator: match by term: Arthrogryposis, mental retardation, and seizures ClinVar
OMIM
PMID:24031089, PMID:25741868, PMID:28492532, PMID:28777481 NCBI chr 1:99,968,401...100,035,634
Ensembl chr 1:99,969,351...100,035,634
Ensembl chr 1:99,969,351...100,035,634
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 IAGP ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy ClinVar
OMIM
PMID:26633546 NCBI chr14:75,079,353...75,127,637
Ensembl chr14:75,079,353...75,127,344
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 IAGP ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868, PMID:31319225 NCBI chr14:77,426,675...77,457,727
Ensembl chr14:77,426,675...77,457,952
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM
ClinVar
PMID:8151641, PMID:11668108, PMID:15052268, PMID:16896922, PMID:17994566, PMID:18853461, PMID:19274792, PMID:21851503, PMID:22753090, PMID:24782640, PMID:24917129, PMID:25741868, PMID:28492532, PMID:31479177 NCBI chr15:90,998,416...91,022,839
Ensembl chr15:90,998,416...91,022,603
Ensembl chr15:90,998,416...91,022,603
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 IAGP ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 ClinVar
OMIM
PMID:20190753, PMID:25741868, PMID:28492532 NCBI chr14:77,426,675...77,457,727
Ensembl chr14:77,426,675...77,457,952
JBrowse link
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:11222789, PMID:14985266, PMID:16534102, PMID:17661097, PMID:18200586, PMID:18799786, PMID:19841671, PMID:20186691, PMID:20981092, PMID:21623769, PMID:22554690, PMID:22571692, PMID:22964162, PMID:23065789, PMID:23269439, PMID:23733235, PMID:23812641, PMID:24033266, PMID:24727571, PMID:24731568, PMID:25133958, PMID:25497598, PMID:25525159, PMID:25681447, PMID:25714468, PMID:25741868, PMID:25976027, PMID:26094131, PMID:26260707, PMID:26374131, PMID:26467025, PMID:26506339, PMID:26626314, PMID:26671083, PMID:26756429, PMID:27016405, PMID:27084228, PMID:27165006, PMID:27181684, PMID:27217339, PMID:27260292, PMID:27957547, PMID:28362824, PMID:28492532, PMID:28608987, PMID:28832565, PMID:29026558, PMID:29057857, PMID:30311386, PMID:32581362 NCBI chr16:89,508,379...89,557,768
Ensembl chr16:89,490,719...89,557,766
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 IAGP ClinVar Annotator: match by term: Adult proximal spinal muscular atrophy, autosomal dominant ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
JBrowse link
G VAPB VAMP associated protein B and C IAGP ClinVar Annotator: match by term: Adult proximal spinal muscular atrophy, autosomal dominant
ClinVar Annotator: match by term: Spinal muscular atrophy, late-onset, finkel type
OMIM
ClinVar
PMID:15372378, PMID:16187141, PMID:16967488, PMID:17804640, PMID:18322265, PMID:18677189, PMID:19183264, PMID:20008544, PMID:20377183, PMID:20447143, PMID:20577002, PMID:21275991, PMID:21685205, PMID:21933185, PMID:22131369, PMID:22258555, PMID:22454507, PMID:22878164, PMID:23333387, PMID:23446633, PMID:23771029, PMID:23971766, PMID:24212516, PMID:24681403, PMID:25741868, PMID:26467025, PMID:26566915, PMID:27978769, PMID:28492532 NCBI chr20:58,389,211...58,451,101
Ensembl chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101
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 IAGP ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:31260566 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
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 IAGP ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar
OMIM
PMID:2712793, PMID:11326272, PMID:11326338, PMID:19449425, PMID:20358596, PMID:26467025, PMID:28492532, PMID:30311386, PMID:11326272 RGD:734571 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
JBrowse link
G LOC100130744 uncharacterized LOC100130744 IAGP 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 chr 5:14,712,694...14,716,529 JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar PMID:2712793, PMID:11326272, PMID:11326338, PMID:19449425, PMID:20358596, PMID:28492532 NCBI chr 5:14,660,794...14,716,552
Ensembl chr 5:14,664,664...14,699,850
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 IAGP 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 9:92,711,363...92,764,841
Ensembl chr 9:92,711,363...92,764,833
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP 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 chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr 6:109,691,296...109,825,431
Ensembl chr 6:109,690,609...109,878,098
Ensembl chr 6:109,690,609...109,878,098
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:17101916, PMID:22462675, PMID:25168514 NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033
Ensembl chr 7:30,580,533...30,634,033
JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 IAGP 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 chr11:68,903,855...68,940,601
Ensembl chr11:68,903,863...68,940,602
Ensembl chr11:68,903,863...68,940,602
Ensembl chr11:68,903,863...68,940,602
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:25886484, PMID:28492532 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:26659848, PMID:28492532 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774
JBrowse link
G NEFL neurofilament light IAGP ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,957,110
Ensembl chr 8:24,950,955...24,957,110
JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:19696032, PMID:22088787, PMID:26467025, PMID:28492532 NCBI chr 9:132,261,356...132,356,726
Ensembl chr 9:132,261,356...132,354,986
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP 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 chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
Ensembl chr12:109,783,087...109,833,406
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 IAGP
ISO
DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
DNA:frameshift mutation:cds:c.625_626delA (human)
DNA:deletion, missense mutation, snp:cds, intron:p.K208del, p.R377H, g.IVS9+5G>C (human)
ClinVar
OMIM
PMID:1839274, PMID:1849984, PMID:2280636, PMID:8619549, PMID:9106535, PMID:10080180, PMID:10612827, PMID:10655060, PMID:10662742, PMID:10739764, PMID:10814726, PMID:10939567, PMID:11138304, PMID:11503164, PMID:11561226, PMID:11731280, PMID:11792809, PMID:11901143, PMID:12032588, PMID:12057196, PMID:12075506, PMID:12196663, PMID:12628721, PMID:12629077, PMID:12649505, PMID:12673789, PMID:12748643, PMID:12920062, PMID:12927431, PMID:14597414, PMID:14615128, PMID:14627682, PMID:14659775, PMID:14684700, PMID:14749366, PMID:15053843, PMID:15140538, PMID:15148145, PMID:15205219, PMID:15372542, PMID:15475483, PMID:15668447, PMID:15744034, PMID:15998779, PMID:16174718, PMID:16218190, PMID:16386954, PMID:16440304, PMID:16772334, PMID:17136397, PMID:17274801, PMID:17377071, PMID:18035086, PMID:18396274, PMID:18414213, PMID:18549403, PMID:18551513, PMID:18551515, PMID:18564364, PMID:18604166, PMID:18646565, PMID:18795223, PMID:19084400, PMID:19318026, PMID:19424285, PMID:19427440, PMID:19432833, PMID:19524666, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19882644, PMID:19933576, PMID:20301609, PMID:20376791, PMID:20498703, PMID:20848652, PMID:20886652, PMID:20980393, PMID:21173262, PMID:21315846, PMID:21520333, PMID:21535365, PMID:21632249, PMID:21840938, PMID:22224630, PMID:22266370, PMID:22326558, PMID:22431096, PMID:22464770, PMID:22883396, PMID:22918509, PMID:23077635, PMID:23183350, PMID:23328570, PMID:23349452, PMID:23362510, PMID:23427149, PMID:23497705, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24237251, PMID:24349489, PMID:24375749, PMID:24503780, PMID:24508248, PMID:24642510, PMID:24656463, PMID:24721642, PMID:24768879, PMID:24806962, PMID:24846508, PMID:24990833, PMID:25214167, PMID:25286833, PMID:25324471, PMID:25326637, PMID:25637381, PMID:25741868, PMID:25823658, PMID:25948554, PMID:25982065, PMID:25987458, PMID:26098624, PMID:26165385, PMID:26183555, PMID:26332594, PMID:26443318, PMID:26467025, PMID:26602028, PMID:26752647, PMID:27220833, PMID:27532257, PMID:27585670, PMID:27717888, PMID:27723096, PMID:27813223, PMID:27854218, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28492532, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28785654, PMID:29040816, PMID:29057633, PMID:29149195, PMID:29237675, PMID:29676528, PMID:29753763, PMID:29791652, PMID:29893365, PMID:30055862, PMID:30165862, PMID:30311386, PMID:10080180, PMID:17446932, PMID:17701980, PMID:10814726 RGD:12791020, RGD:2306094, RGD:12791273, RGD:11062274 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
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 IAGP 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 6:151,654,148...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
ClinVar Annotator: match by term: Emery-dreifuss muscular dystrophy 4, autosomal dominant
ClinVar
OMIM
PMID:17761684, PMID:18414213, PMID:21572417, PMID:22287014, PMID:23352163, PMID:23959263, PMID:24123366, PMID:24123876, PMID:24892279, PMID:25133958, PMID:25214167, PMID:25401298, PMID:25741868, PMID:25976027, PMID:26467025, PMID:26539891, PMID:26770814, PMID:26870756, PMID:27066551, PMID:27197992, PMID:27305979, PMID:28017257, PMID:28074886, PMID:28178086, PMID:28492532, PMID:28750076, PMID:29625556, PMID:29961767, PMID:30029642, PMID:30275942, PMID:30311386, PMID:30564623 NCBI chr 6:152,121,684...152,637,395
Ensembl chr 6:152,121,684...152,637,801
JBrowse link
G SYNE1-AS1 SYNE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 6:152,380,530...152,381,713
Ensembl chr 6:152,380,546...152,381,564
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 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5
ClinVar Annotator: match by term: Emery-dreifuss muscular dystrophy 5, autosomal dominant
ClinVar
OMIM
PMID:17761684, PMID:18414213, PMID:22995991, PMID:25179549, PMID:25214167, PMID:25587064, PMID:25741868, PMID:26094658, PMID:26467025, PMID:27632638, PMID:28074886, PMID:28492532, PMID:28798025, PMID:30311386 NCBI chr14:63,761,904...64,226,449
Ensembl chr14:63,761,899...64,226,433
Ensembl chr14:63,761,899...64,226,433
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 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant ClinVar
OMIM
PMID:21391237, PMID:21636032, PMID:23812740, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:14,125,006...14,143,680
Ensembl chr 3:14,124,940...14,143,679
Ensembl chr 3:14,124,940...14,143,679
JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Myosin storage myopathy
ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
ClinVar PMID:15358028, PMID:15556047, PMID:15757018, PMID:17125710, PMID:18414213, PMID:19150014, PMID:21127202, PMID:22765922, PMID:22958901, PMID:23074333, PMID:23299917, PMID:23794396, PMID:24033266, PMID:24093860, PMID:24793961, PMID:25342278, PMID:25637381, PMID:25741868, PMID:27247418, PMID:28356264, PMID:28492532, PMID:29300372, PMID:30311386, PMID:30871747 NCBI chr14:23,415,450...23,417,595 JBrowse link
G MYH7 myosin heavy chain 7 IAGP DNA:missense mutation: :p.R1845W (23014C>T) (human)
ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS
ClinVar Annotator: match by term: Myosin storage myopathy
ClinVar
OMIM
PMID:1430197, PMID:1552912, PMID:1638703, PMID:1944483, PMID:1975517, PMID:7581410, PMID:7662452, PMID:7731997, PMID:7848420, PMID:8186698, PMID:8254035, PMID:8268932, PMID:8533830, PMID:9105042, PMID:9140839, PMID:9826622, PMID:9835779, PMID:10024460, PMID:10065021, PMID:10328076, PMID:10521296, PMID:10725281, PMID:10750581, PMID:10882745, PMID:11133230, PMID:11186938, PMID:11447480, PMID:11498078, PMID:11723028, PMID:11861410, PMID:11861413, PMID:11968089, PMID:12081993, PMID:12379228, PMID:12707239, PMID:12818575, PMID:12820698, PMID:12975413, PMID:14520662, PMID:15010274, PMID:15136674, PMID:15358028, PMID:15483641, PMID:15528230, PMID:15556047, PMID:15563892, PMID:15699387, PMID:15757018, PMID:15769782, PMID:15856146, PMID:15858117, PMID:16115294, PMID:16137545, PMID:16199542, PMID:16253604, PMID:16267253, PMID:16630449, PMID:16858239, PMID:16918501, PMID:17118657, PMID:17125710, PMID:17336526, PMID:17438619, PMID:17476457, PMID:17560888, PMID:17612745, PMID:18029407, PMID:18374998, PMID:18383048, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18533079, PMID:18555187, PMID:18761664, PMID:18953637, PMID:19149795, PMID:19150014, PMID:19336582, PMID:19412328, PMID:19645038, PMID:19880069, PMID:20031618, PMID:20086309, PMID:20350521, PMID:20376763, PMID:20474083, PMID:20664766, PMID:20800588, PMID:20817590, PMID:20975235, PMID:21127202, PMID:21239446, PMID:21302287, PMID:21310275, PMID:21896538, PMID:21959974, PMID:22112859, PMID:22337857, PMID:22429680, PMID:22455086, PMID:22763267, PMID:22765922, PMID:22857948, PMID:22958901, PMID:23054336, PMID:23074333, PMID:23197161, PMID:23233322, PMID:23283745, PMID:23290139, PMID:23299917, PMID:23349452, PMID:23396983, PMID:23403236, PMID:23508784, PMID:23549607, PMID:23674513, PMID:23690394, PMID:23711808, PMID:23751935, PMID:23785128, PMID:23794396, PMID:23861362, PMID:24033266, PMID:24047955, PMID:24093860, PMID:24111713, PMID:24298987, PMID:24503780, PMID:24510615, PMID:24691700, PMID:24704860, PMID:24721642, PMID:24793961, PMID:25031304, PMID:25086479, PMID:25125180, PMID:25132132, PMID:25163446, PMID:25163546, PMID:25342278, PMID:25351510, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25649125, PMID:25714468, PMID:25741868, PMID:25937619, PMID:26220970, PMID:26332594, PMID:26458567, PMID:26467025, PMID:26497160, PMID:26573135, PMID:26688388, PMID:26743238, PMID:26914223, PMID:26936621, PMID:26969327, PMID:27082122, PMID:27153395, PMID:27247418, PMID:27532257, PMID:27576561, PMID:27600940, PMID:27707468, PMID:27737317, PMID:27831900, PMID:27841901, PMID:27854218, PMID:27974200, PMID:28138913, PMID:28193612, PMID:28241245, PMID:28356264, PMID:28408708, PMID:28420666, PMID:28481356, PMID:28492532, PMID:28518168, PMID:28588093, PMID:28606303, PMID:28615295, PMID:28790153, PMID:28798025, PMID:28878402, PMID:29121657, PMID:29212898, PMID:29300372, PMID:30297972, PMID:30311386, PMID:30511546, PMID:30871747, PMID:31333075, PMID:31568572, PMID:14520662 RGD:12792959 NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1E ClinVar
OMIM
PMID:9973293, PMID:10489050, PMID:20682716, PMID:21376592, PMID:22334415, PMID:22366786, PMID:24033266, PMID:24594375, PMID:24920671, PMID:25741868, PMID:26205529, PMID:26371419, PMID:26467025, PMID:26847086, PMID:27642634, PMID:27671536, PMID:28233300, PMID:28492532, PMID:28794355, PMID:30564623 NCBI chr 7:157,337,004...157,417,439
Ensembl chr 7:157,335,381...157,417,439
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F ClinVar
OMIM
PMID:11222786, PMID:23543484, PMID:23667635, PMID:25741868, PMID:28492532 NCBI chr 7:128,954,185...129,055,111
Ensembl chr 7:128,954,180...129,055,173
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G ClinVar
OMIM
PMID:15367920, PMID:24647604, PMID:25741868, PMID:28492532 NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,564...82,430,408
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 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 OMIM
ClinVar
PMID:9150160, PMID:10330340, PMID:18055493, PMID:19556129, PMID:22443334, PMID:26467025, PMID:27259757, PMID:28492532, PMID:28602176, PMID:28881388 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
Ensembl chr15:42,359,498...42,412,949
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 IAGP 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 chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
ClinVar
OMIM
PMID:632821, PMID:2067633, PMID:2725645, PMID:11431686, PMID:11571332, PMID:11897778, PMID:12073019, PMID:12210792, PMID:12565911, PMID:12872260, PMID:14467368, PMID:14557557, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15534189, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16929381, PMID:16940310, PMID:16943369, PMID:17088268, PMID:17420318, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19189930, PMID:19251978, PMID:19307547, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19629138, PMID:19752458, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20220442, PMID:20227526, PMID:20301791, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20981092, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22006280, PMID:22189570, PMID:22237560, PMID:22342071, PMID:22494076, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22863191, PMID:22931735, PMID:22987704, PMID:22995991, PMID:23084792, PMID:23212759, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23545419, PMID:23783014, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24331360, PMID:24508722, PMID:24725338, PMID:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25488682, PMID:25585994, PMID:25741868, PMID:25850945, PMID:26095671, PMID:26104464, PMID:26357557, PMID:26467025, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:26968897, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28284481, PMID:28337550, PMID:28471437, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:28837072, PMID:28901595, PMID:29029963, PMID:29190809, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:29992832, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ClinVar PMID:25741868 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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 IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ClinVar
OMIM
PMID:8644740, PMID:10364542, PMID:10926541, PMID:11756613, PMID:12112115, PMID:25741868, PMID:28492532 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
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 IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3
ClinVar
OMIM
PMID:1634620, PMID:10522883, PMID:11431692, PMID:12163192, PMID:15668446, PMID:17614277, PMID:19353676, PMID:19513767, PMID:20479361, PMID:20659899, PMID:21689831, PMID:24018892, PMID:25355836, PMID:25741868, PMID:26206283, PMID:26467025, PMID:27551684, PMID:28492532, PMID:28812649, PMID:29458409 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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 IAGP 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 chr17:64,449,006...64,496,469
Ensembl chr17:64,449,037...64,468,643
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ClinVar
OMIM
PMID:16685652, PMID:21555342, PMID:22155748, PMID:22176657, PMID:23197651, PMID:23596069, PMID:24033266, PMID:25741868, PMID:26123486, PMID:26251896, PMID:27535533, PMID:28492532 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
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 IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5
ClinVar
OMIM
PMID:19664747, PMID:21646632, PMID:26467025, PMID:28492532, PMID:28812649 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
Ensembl chr 8:102,204,502...102,238,961
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 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 ClinVar
OMIM
PMID:23352259, PMID:25741868 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121
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 IAGP
EXP
ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive
ClinVar Annotator: match by term: Autosomal recessive centronuclear myopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17676042, PMID:18414213, PMID:20142620, PMID:22912834, PMID:22960267, PMID:24033266, PMID:24549043, PMID:24755653, PMID:25262827, PMID:25741868, PMID:26101835, PMID:26467025, PMID:28492532, PMID:29103045, PMID:29950440 NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
JBrowse link
G LOC112806045 Sharpr-MPRA regulatory region 572 IAGP ClinVar Annotator: match by term: Autosomal recessive centronuclear myopathy ClinVar PMID:28492532 NCBI chr 2:127,064,773...127,065,067 JBrowse link
G SPEG striated muscle enriched protein kinase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:219,434,215...219,493,629
Ensembl chr 2:219,434,843...219,493,629
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 IAGP ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive type ClinVar
OMIM
PMID:11146471, PMID:23951358, PMID:25741868 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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 IAGP ClinVar Annotator: match by term: Emery-dreifuss muscular dystrophy, atypical, autosomal recessive
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive
ClinVar
OMIM
PMID:2007407, PMID:10587585, PMID:10655060, PMID:10739751, PMID:10739764, PMID:10810087, PMID:10868844, PMID:10999791, PMID:10999845, PMID:11078466, PMID:11136544, PMID:11792809, PMID:12927424, PMID:15205219, PMID:16181372, PMID:16364671, PMID:16415042, PMID:18414213, PMID:18728124, PMID:19011997, PMID:19201734, PMID:19418082, PMID:19859838, PMID:20130076, PMID:20625965, PMID:22224630, PMID:22266370, PMID:22431096, PMID:22464770, PMID:22700598, PMID:23183350, PMID:23313286, PMID:23427149, PMID:23853504, PMID:23861362, PMID:24033266, PMID:24503780, PMID:24846508, PMID:25741868, PMID:26467025, PMID:26602028, PMID:26662654, PMID:27532257, PMID:27585670, PMID:27723096, PMID:28492532, PMID:29149195, PMID:29237675, PMID:30165862, PMID:30311386 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
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 IAGP ClinVar Annotator: match by term: Myopathy, myosin storage, autosomal recessive OMIM
ClinVar
PMID:1430197, PMID:1552912, PMID:1638703, PMID:1944483, PMID:1975517, PMID:7581410, PMID:7662452, PMID:7731997, PMID:7848420, PMID:8186698, PMID:8254035, PMID:8268932, PMID:9105042, PMID:9140839, PMID:9826622, PMID:9835779, PMID:10024460, PMID:10065021, PMID:10328076, PMID:10521296, PMID:10725281, PMID:10750581, PMID:10882745, PMID:11133230, PMID:11186938, PMID:11447480, PMID:11498078, PMID:11723028, PMID:11861410, PMID:11861413, PMID:11968089, PMID:12081993, PMID:12707239, PMID:12818575, PMID:12820698, PMID:12975413, PMID:14659406, PMID:15010274, PMID:15136674, PMID:15358028, PMID:15483641, PMID:15528230, PMID:15563892, PMID:15856146, PMID:15858117, PMID:16199542, PMID:16267253, PMID:16630449, PMID:16858239, PMID:16918501, PMID:17125710, PMID:17372140, PMID:17438619, PMID:17560888, PMID:17612745, PMID:18029407, PMID:18374998, PMID:18383048, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18533079, PMID:18761664, PMID:19150014, PMID:19336582, PMID:19880069, PMID:20031618, PMID:20350521, PMID:20513729, PMID:20800588, PMID:21239446, PMID:21310275, PMID:21896538, PMID:21959974, PMID:22112859, PMID:22429680, PMID:22455086, PMID:22857948, PMID:22958901, PMID:23054336, PMID:23197161, PMID:23233322, PMID:23283745, PMID:23290139, PMID:23299917, PMID:23396983, PMID:23403236, PMID:23549607, PMID:23674513, PMID:23690394, PMID:23711808, PMID:23751935, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24047955, PMID:24093860, PMID:24111713, PMID:24298987, PMID:24503780, PMID:24510615, PMID:24691700, PMID:24704860, PMID:24793961, PMID:25031304, PMID:25132132, PMID:25351510, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25666907, PMID:25714468, PMID:25741868, PMID:25937619, PMID:26468400, PMID:26573135, PMID:26743238, PMID:26914223, PMID:26936621, PMID:26969327, PMID:27066506, PMID:27082122, PMID:27153395, PMID:27247418, PMID:27532257, PMID:27600940, PMID:27737317, PMID:27831900, PMID:27841901, PMID:27974200, PMID:28125727, PMID:28138913, PMID:28193612, PMID:28241245, PMID:28408708, PMID:28420666, PMID:28481356, PMID:28492532, PMID:28518168, PMID:28606303, PMID:28615295, PMID:28771489, PMID:28790153, PMID:28807990, PMID:28973424, PMID:29121657, PMID:29212898, PMID:29300372, PMID:30297972, PMID:30511546, PMID:31333075, PMID:31568572 NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
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 IAGP 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 chr11:22,192,485...22,283,357
Ensembl chr11:21,799,934...22,283,357
JBrowse link
G ASTN2 astrotactin 2 IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 9:116,423,112...117,415,057
Ensembl chr 9:116,425,225...117,415,070
JBrowse link
G CAPN3 calpain 3 IAGP 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 chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
Ensembl chr15:42,359,498...42,412,949
JBrowse link
G CAV3 caveolin 3 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:9536092, PMID:11251997, PMID:11884389, PMID:15580566, PMID:16770780, PMID:17060380, PMID:17210839, PMID:17275750, PMID:19380584, PMID:20472890, PMID:23465283, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26467025, PMID:26498160, PMID:27483260, PMID:27930701, PMID:28492532, PMID:29961767, PMID:30055862 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
G DYSF dysferlin IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:12796534, PMID:14678801, PMID:15469449, PMID:17512949, PMID:18832576, PMID:18853459, PMID:19493611, PMID:20535123, PMID:22213072, PMID:22297152, PMID:24033266, PMID:24239059, PMID:24438169, PMID:24838345, PMID:25741868, PMID:25868377, PMID:25987458, PMID:26077327, PMID:26290895, PMID:26467025, PMID:27666772, PMID:28492532 NCBI chr 2:71,453,154...71,686,763
Ensembl chr 2:71,453,722...71,686,768
JBrowse link
G FKRP fukutin related protein IAGP 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 chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G LMNA lamin A/C IAGP 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 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:15466003, PMID:17869517, PMID:17906881, PMID:19299310, PMID:22323514, PMID:22554691, PMID:23894383, PMID:25741868, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:23757202, PMID:24033266, PMID:25741868 NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,902...131,523,806
JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP DNA:missense mutation:exon:p.T184M, (c.551C>T) (human)
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar PMID:17923109 RGD:11532762 NCBI chr14:77,274,956...77,320,885
Ensembl chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
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G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr13:23,328,827...23,433,728
Ensembl chr13:23,328,826...23,433,740
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G SGCA sarcoglycan alpha IAGP 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 chr17:50,165,517...50,175,928
Ensembl chr17:50,164,214...50,175,928
JBrowse link
G SGCB sarcoglycan beta IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:7581449, PMID:9032047, PMID:10993494, PMID:15032976, PMID:15938573, PMID:19770540, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,482
Ensembl chr 4:52,020,706...52,038,482
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G SGCD sarcoglycan delta IAGP 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 5:155,728,636...156,767,788
Ensembl chr 5:155,870,344...156,767,788
JBrowse link
G SGCG sarcoglycan gamma IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
Ensembl chr13:23,180,979...23,325,162
JBrowse link
G TRIM32 tripartite motif containing 32 IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,302...116,701,300
JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:15466003, PMID:17869517, PMID:17906881, PMID:19299310, PMID:22323514, PMID:22554691, PMID:23894383, PMID:25741868, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386 NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link
G TTN titin IAGP 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 chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:23861362, PMID:23975875, PMID:24033266, PMID:24503780, PMID:24892279, PMID:25589632, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28822653 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name Qualifiers