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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: 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;   neuromuscular diseases
 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 Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Neuromuscular Diseases ClinVar PMID:12921789, PMID:15226407, PMID:17227580, PMID:19562689, PMID:24033266, PMID:25470062, PMID:25525159, PMID:28492532 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Neuromuscular Diseases ClinVar PMID:1178008, PMID:1998333, PMID:7294729, PMID:8595407, PMID:10382909, PMID:10428430, PMID:18646565, PMID:24033266 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO Severe GPI deficiency with neurologic deficits RGD PMID:9856489 RGD:1600632 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Neuromuscular Diseases ClinVar PMID:15668942, PMID:17337483, PMID:18765652, PMID:19377068, PMID:24033266, PMID:24647531, PMID:24668811, PMID:25208129, PMID:25741868, PMID:26467025, PMID:27618136, PMID:28349680, PMID:28492532 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Neuromuscular disease ClinVar PMID:15678000, PMID:17377071, PMID:18585512, PMID:18926329, PMID:19446900, PMID:24033266, PMID:24503780, PMID:24915601, PMID:27506821, PMID:28492532, PMID:28679633, PMID:28798025, PMID:30311386 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Neuromuscular disease
ClinVar Annotator: match by term: Neuromuscular Diseases
ClinVar PMID:16084090, 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 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Neuromuscular Diseases ClinVar PMID:24033266 NCBI chr10:32,062,946...32,471,454
Ensembl chr10:32,062,946...32,471,454
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Neuromuscular Diseases
ClinVar Annotator: match by term: Neuromuscular disease
ClinVar PMID:956253, PMID:1520078, PMID:4056805, PMID:8179305, PMID:11891693, PMID:14755468, PMID:15668982, PMID:18587396, PMID:19232556, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21573172, PMID:21964574, PMID:22065612, PMID:22419508, PMID:22675077, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24319099, PMID:24575025, PMID:24577120, PMID:24677493, PMID:24789864, PMID:24963089, PMID:25256292, PMID:25703509, PMID:25741868, PMID:25900305, PMID:26110311, PMID:26249260, PMID:26467025, PMID:26948711, PMID:27330106, PMID:27549087, PMID:27751652, PMID:28492532, PMID:28898540, PMID:30311386 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Neuromuscular disease ClinVar PMID:22335739, PMID:23975875, PMID:24033266, PMID:25589632, PMID:26701604, PMID:28492532, PMID:29691892, PMID:31053406 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Xk X-linked Kx blood group ISO CTD Direct Evidence: marker/mechanism CTD PMID:8004674, PMID:8619554 NCBI chr  X:14,497,376...14,534,479
Ensembl chr  X:14,498,119...14,534,473
JBrowse link
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO ClinVar Annotator: match by term: 3 Methylcrotonyl-CoA carboxylase 1 deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by OMIM:210200
OMIM
ClinVar
PMID:9187484, PMID:10485305, PMID:11170888, PMID:11181649, PMID:11406611, PMID:14680978, PMID:15359379, PMID:15868465, PMID:16010683, PMID:16835865, PMID:17968484, PMID:19339287, PMID:21071250, PMID:22150417, PMID:22264772, PMID:22642865, PMID:24033266, PMID:24078573, PMID:25356967, PMID:25382614, PMID:25741868, PMID:26566957, PMID:27577216, PMID:27601257, PMID:28492532 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO ClinVar Annotator: match by term: 3-methylcrotonyl CoA carboxylase 2 deficiency
ClinVar Annotator: match by OMIM:210210
OMIM
ClinVar
PMID:1293382, PMID:7128647, PMID:8598650, PMID:9544913, PMID:11170888, PMID:11181649, PMID:11406611, PMID:14680978, PMID:15877210, PMID:16010683, PMID:16835865, PMID:17908719, PMID:17968484, PMID:20818363, PMID:20818383, PMID:21071250, PMID:22030835, PMID:22150417, PMID:22264772, PMID:22642865, PMID:25087612, PMID:25356967, PMID:25741868, PMID:26566957, PMID:26764160, PMID:27033733, PMID:27601257, PMID:28018443, PMID:28492532 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar PMID:11170888, PMID:14680978, PMID:24033266, PMID:25356967, PMID:25741868, PMID:28492532 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO ClinVar Annotator: match by term: 3-MCC Deficiency ClinVar NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
Actin-Accumulation Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital myopathy with excess of thin filaments ClinVar PMID:9185179, PMID:10508519, PMID:10528865, PMID:11333380, PMID:11525890, PMID:12601110, PMID:12921789, PMID:15226407, PMID:15236405, PMID:15468086, PMID:16427282, PMID:16945536, PMID:16967490, PMID:17227580, PMID:17387733, PMID:17705262, PMID:18414213, PMID:19206168, PMID:19553121, PMID:19562689, PMID:20303757, PMID:20621480, PMID:21514153, PMID:21520333, PMID:22442437, PMID:23102861, PMID:23294764, PMID:23394784, PMID:23650303, PMID:24033266, PMID:24642510, PMID:24787270, PMID:24852243, PMID:25182138, PMID:25214167, PMID:25326635, PMID:25470062, PMID:25525159, PMID:25635128, PMID:25741868, PMID:25890230, PMID:26172852, PMID:26436962, PMID:26467025, PMID:26507755, PMID:27447704, PMID:27854218, PMID:28256728, PMID:28357410, PMID:28416349, PMID:28492532, PMID:29274205, PMID:29792937, PMID:30253894, PMID:30311386, PMID:30354303 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
JBrowse link
Acute Recurrent Myoglobinuria, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpin1 lipin 1 ISO ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive
ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria
ClinVar Annotator: match by term: Myoglobinuria, recurrent, autosomal recessive
OMIM
ClinVar
PMID:18591397, PMID:18817903, PMID:20583302, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:41,796,214...41,905,149
Ensembl chr 6:41,799,749...41,870,046
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 ISO ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, TYPE IV OMIM
ClinVar
PMID:21542063, PMID:25741868, PMID:28492532 NCBI chr 2:30,360,101...30,371,147
Ensembl chr 2:30,360,100...30,371,147
JBrowse link
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome
ClinVar Annotator: match by OMIM:615071
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:22865833, PMID:25741868, PMID:30006060, PMID:32860008 NCBI chr 2:231,866,888...231,882,002
Ensembl chr 2:231,867,135...231,881,939
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 IEP RGD PMID:14506614 RGD:1581765 NCBI chr 1:197,855,912...197,875,038 JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome
ClinVar Annotator: match by term: MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
ClinVar Annotator: match by OMIM:300523
OMIM
ClinVar
PMID:1605231, PMID:2393019, PMID:8484404, PMID:12871948, PMID:14661163, PMID:15889350, PMID:15980113, PMID:18187543, PMID:18398436, PMID:18414213, PMID:20628049, PMID:20655035, PMID:21098685, PMID:21896621, PMID:22805248, PMID:23550058, PMID:23568789, PMID:24265446, PMID:24629861, PMID:24665922, PMID:24721225, PMID:25167861, PMID:25527620, PMID:25644381, PMID:25741868, PMID:27212794, PMID:27672545, PMID:28492532 NCBI chr  X:74,578,600...74,706,068
Ensembl chr  X:74,577,131...74,706,214
JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241, PMID:18231121, PMID:20236127, PMID:20979233, PMID:25741868, PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:21880868, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO
IAGP
DNA:mutations:cds:
ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
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:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28206745, PMID:28284481, PMID:28337550, PMID:28471437, PMID:28480171, PMID:28492532, PMID:28634151, PMID:28771251, PMID:28776642, PMID:28812649, PMID:28815208, PMID:28837072, PMID:28865037, PMID:28901595, PMID:28958595, PMID:29029963, PMID:29190809, PMID:29272804, PMID:29278894, PMID:29302508, PMID:29341116, PMID:29358615, PMID:29423831, PMID:29474836, PMID:29482223, PMID:29574624, PMID:29588995, PMID:29644085, PMID:29712893, PMID:29915382, PMID:29920680, PMID:29950568, PMID:29992832, PMID:30021052, PMID:30167885, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30423451, PMID:30831263, PMID:30843307, PMID:15689359, PMID:20142534, PMID:16896309, PMID:22237560 RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr 1:141,097,789...141,111,375
Ensembl chr 1:141,097,695...141,111,400
JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma ClinVar PMID:11257105, PMID:16454848, PMID:18199528, PMID:21859464, PMID:24033266, PMID:25637381, PMID:25741868, PMID:26580448, PMID:27535533, PMID:28492532, PMID:28503720 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Foxo1 forkhead box O1 ISO OMIM NCBI chr 2:141,451,234...141,527,016
Ensembl chr 2:141,451,234...141,527,016
JBrowse link
G Pax3 paired box 3 ISO DNA:translocations: (human)
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma
ClinVar
OMIM
PMID:24033266, PMID:25741868, PMID:15313887 RGD:1580944 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
JBrowse link
G Pax7 paired box 7 ISO ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 OMIM
ClinVar
PMID:25741868, PMID:31092906, PMID:32214227 NCBI chr 5:158,211,001...158,313,510
Ensembl chr 5:158,214,616...158,313,426
JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 5:171,355,876...171,415,354
Ensembl chr 5:171,355,876...171,415,354
JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 2:147,577,149...147,693,033
Ensembl chr 2:147,577,089...147,693,082
JBrowse link
alveolar soft part sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspscr1 ASPSCR1 tether for SLC2A4, UBX domain containing ISO OMIM NCBI chr10:109,851,407...109,889,339
Ensembl chr10:109,851,854...109,888,623
JBrowse link
Amyopathic Dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: :HLA-DQA1*0501;
DNA:polymorphism (human)
RGD PMID:18671865, PMID:8666549, PMID:15067086 RGD:5147790, RGD:8547569, RGD:5147796 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
amyotrophic lateral sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO
ISS
mRNA:decreased expression:motor neuron: MouseDO PMID:20372915, PMID:22226999 RGD:10755336, RGD:13432092 NCBI chr20:11,972,352...12,101,022
Ensembl chr20:11,972,381...12,101,047
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO protein:increased expression:skeletal muscle RGD PMID:18273716 RGD:5509081 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 susceptibility ISO RGD PMID:11586297 RGD:1599080 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
G Ang angiogenin no_association ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
DNA:missense mutations
DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human)
protein:increased expression:cerebrospinal fluid
ClinVar PMID:25741868, PMID:22190368, PMID:16501576, PMID:17462671, PMID:19177252 RGD:6892707, RGD:6892718, RGD:6892716, RGD:6892713 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Aox1 aldehyde oxidase 1 ISO RGD PMID:7570184 RGD:734575 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
JBrowse link
G Apoe apolipoprotein E severity ISO DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) RGD PMID:8899655 RGD:12880359 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Aqp4 aquaporin 4 IEP mRNA, protein:increased expression:spinal cord
protein:increased expression:brainstem
RGD PMID:19089902, PMID:22987392 RGD:5490153, RGD:8662893 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Atg5 autophagy related 5 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr20:49,301,783...49,393,147
Ensembl chr20:49,318,308...49,393,140
JBrowse link
G Atox1 antioxidant 1 copper chaperone disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr10:40,790,850...40,805,886
Ensembl chr10:40,790,845...40,805,941
JBrowse link
G Atxn2 ataxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27377857 NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612
JBrowse link
G Bad BCL2-associated agonist of cell death disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bak1 BCL2-antagonist/killer 1 treatment ISO RGD PMID:20890041 RGD:13506803 NCBI chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
JBrowse link
G Bax BCL2 associated X, apoptosis regulator 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 chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 treatment
disease_progression
IMP
ISO
RGD PMID:18543336, PMID:10582606 RGD:13506902, RGD:13506907 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Becn1 beclin 1 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bid BH3 interacting domain death agonist ISO RGD PMID:29440992 RGD:13506949 NCBI chr 4:153,439,812...153,465,247
Ensembl chr 4:153,442,218...153,465,203
JBrowse link
G Bnip3l BCL2 interacting protein 3 like ISO RGD PMID:29440992 RGD:13506949 NCBI chr15:43,643,897...43,667,123
Ensembl chr15:43,643,897...43,667,029
JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO mRNA,protein:increased expression:spinal cord: RGD PMID:9225734 RGD:9586057 NCBI chr10:95,248,573...95,350,162
Ensembl chr10:95,250,294...95,349,789
JBrowse link
G C3 complement C3 IEP RGD PMID:19050293 RGD:5130169 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C5ar1 complement C5a receptor 1 IMP RGD PMID:19050293 RGD:5130169 NCBI chr 1:78,186,777...78,195,132
Ensembl chr 1:78,186,776...78,195,328
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO RGD PMID:21964254 RGD:5684010 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Camk1g calcium/calmodulin-dependent protein kinase IG ISO CTD Direct Evidence: marker/mechanism CTD PMID:23624525 NCBI chr13:112,075,689...112,099,472
Ensembl chr13:112,075,690...112,099,336
JBrowse link
G Casp12 caspase 12 IEP protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
JBrowse link
G Casp3 caspase 3 IEP protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp9 caspase 9 IEP protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 disease_progression ISO protein:increased expression:plasma:
protein:decreased expression:monocyte:
RGD PMID:16857270, PMID:16857270 RGD:8657363, RGD:8657363
G Ccs copper chaperone for superoxide dismutase treatment ISO RGD PMID:26826269 RGD:13524551 NCBI chr 1:220,075,251...220,096,319
Ensembl chr 1:220,075,247...220,096,404
JBrowse link
G Cd40lg CD40 ligand ISO CTD Direct Evidence: therapeutic CTD PMID:20348957, PMID:20348957 RGD:5490547 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cdk5 cyclin-dependent kinase 5 ISO RGD PMID:11343650 RGD:734741 NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27455348 NCBI chr20:11,417,428...11,424,301
Ensembl chr20:11,417,429...11,424,324
JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO DNA:mutations:cds:Q206H, I29V (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16807408, PMID:16807408 RGD:5688711 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 8:59,594,007...59,607,122
Ensembl chr 8:59,592,403...59,607,275
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:7895015, PMID:18479385, PMID:22036597, PMID:25741868, PMID:28492532, PMID:29454195 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 8:59,610,489...59,629,073
Ensembl chr 8:59,609,693...59,629,133
JBrowse link
G Cntf ciliary neurotrophic factor susceptibility ISO RGD PMID:11951178 RGD:734796 NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
JBrowse link
G Ctsh cathepsin H ISO mRNA, protein:increased expression:spinal cord RGD PMID:17583678 RGD:5686391 NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287
JBrowse link
G Dao D-amino-acid oxidase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr12:48,353,691...48,373,647
Ensembl chr12:48,354,196...48,365,784
JBrowse link
G Dbr1 debranching RNA lariats 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23104007 NCBI chr 8:107,826,690...107,838,186
Ensembl chr 8:107,826,424...107,838,339
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to ClinVar PMID:15326253, PMID:16240349, PMID:18812314, PMID:19506225, PMID:23143281, PMID:25025039, PMID:25382069, PMID:25741868, PMID:26467025, PMID:26662454, PMID:27132499, PMID:28430856, PMID:28492532, PMID:28717666 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO protein:decreased expression:mitochondrion: RGD PMID:24399935 RGD:9589066 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 no_association ISO DNA:SNP:intron:rs10260404 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18084291, PMID:18708572, PMID:20137488 RGD:5687188, RGD:5687181 NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO protein:increased expression:spinal cord RGD PMID:12675919 RGD:2301741 NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
JBrowse link
G Elp3 elongator acetyltransferase complex subunit 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:48,942,866...49,005,074
Ensembl chr15:48,942,871...49,005,058
JBrowse link
G Epg5 ectopic P-granules autophagy protein 5 homolog ISS MouseDO NCBI chr18:74,299,965...74,397,115
Ensembl chr18:74,299,931...74,395,547
JBrowse link
G Epo erythropoietin disease_progression ISO protein:decreased expression:cerebrospinal fluid RGD PMID:17368721 RGD:10395391 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:17572665, PMID:18180444, PMID:18261132, PMID:18556664, PMID:19118816, PMID:20630877, PMID:21655088, PMID:21705420, PMID:22131434, PMID:22998443, PMID:23489662, PMID:24878229, PMID:25510381, PMID:25617005, PMID:25741868, PMID:26467025, PMID:28051077, PMID:28492532, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Fus FUS RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30455313, PMID:22055719, PMID:21408206 RGD:5509900, RGD:9685710 NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11723166 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
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 chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 treatment ISO human protein in a rat model RGD PMID:26113413 RGD:13506239 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Grn granulin precursor disease_progression
onset
ISO protein:increased expression:spinal cord, microglia
DNA:mutations: :
RGD PMID:21107132, PMID:18184915, PMID:21107132 RGD:5509593, RGD:5509619, RGD:5509593 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO RGD PMID:12675919 RGD:2301741 NCBI chr 1:82,097,244...82,108,238
Ensembl chr 1:82,097,247...82,108,203
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO RGD PMID:12675919 RGD:2301741 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16681429 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16109392 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hdac4 histone deacetylase 4 severity ISO RGD PMID:23824486 RGD:9681450 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr11:74,312,837...74,315,249
Ensembl chr11:74,312,806...74,315,248
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 2:95,320,147...95,322,701
Ensembl chr 2:95,320,283...95,322,696
JBrowse link
G Hmgb1 high mobility group box 1 severity ISO RGD PMID:23639787 RGD:10402056 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
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 chr17:6,664,730...6,676,753
Ensembl chr17:6,665,659...6,676,654
JBrowse link
G Hrk harakiri, BCL2 interacting protein ISO RGD PMID:29440992 RGD:13506949 NCBI chr12:44,008,879...44,029,211 JBrowse link
G Igf1r insulin-like growth factor 1 receptor onset IEP mRNA:decreased expression:spinal cord (rat) RGD PMID:18683239 RGD:12904708 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igf2r insulin-like growth factor 2 receptor IEP protein:increased expression:spinal cord, astrocyte RGD PMID:18441505 RGD:2311519 NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
JBrowse link
G Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 susceptibility ISO DNA:snp:intron:g.26636386A>G rs2306677 (human) RGD PMID:17827064 RGD:6482791 NCBI chr 4:180,423,452...180,800,088
Ensembl chr 4:180,538,389...180,722,358
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP protein:decreased expression:brainstem RGD PMID:22987392 RGD:8662893 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Kdr kinase insert domain receptor ISO protein:decreased expression:spinal cord RGD PMID:16410746 RGD:1580568 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO mRNA:increased expression:primary motor cortex (human) RGD PMID:18957896 RGD:6893397 NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
JBrowse link
G Kif1b kinesin family member 1B onset IEP
ISO
mRNA:decreased expression:precentral gyrus (human)
mRNA:increased expression, decreased expression:spinal cord, sciatic nerve (mouse)
RGD PMID:17418584, PMID:24904291 RGD:12738468, RGD:12738469 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO mRNA:increased expression:skeletal muscle RGD PMID:21375368 RGD:5508417 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Maml1 mastermind-like transcriptional coactivator 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr10:35,765,196...35,801,375
Ensembl chr10:35,765,719...35,800,120
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:19796283 RGD:7207054 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity 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 chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord
RGD PMID:19796283, PMID:20441996 RGD:7207054, RGD:13204793 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27455348 NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
JBrowse link
G Mstn myostatin IMP RGD PMID:16837207 RGD:2303556 NCBI chr 9:53,310,977...53,315,804
Ensembl chr 9:53,309,598...53,315,915
JBrowse link
G Mt1 metallothionein 1 ISO mRNA:increased expression:spinal cord (mouse) RGD PMID:16179515 RGD:6484130 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Mt2A metallothionein 2A onset ISO mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse) RGD PMID:18000159 RGD:6482832 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Mt3 metallothionein 3 ISO RGD PMID:17097207, PMID:12388585, PMID:12417341 RGD:6480495, RGD:6480627, RGD:6480625 NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association
ISO DNA:polymorphism: :c.677C>T(human) RGD PMID:21128869, PMID:21868135 RGD:11565111, RGD:11565173 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtnr1a melatonin receptor 1A disease_progression ISO protein:decreased expression:spinal chord RGD PMID:23537713 RGD:13524569 NCBI chr16:50,339,358...50,358,809
Ensembl chr16:50,339,358...50,358,809
JBrowse link
G Mtrex Mtr4 exosome RNA helicase ISO mRNA:increased expression:peripheral blood lymphocyte (human) RGD PMID:23006766 RGD:11041891 NCBI chr 2:44,726,716...44,787,013
Ensembl chr 2:44,717,781...44,786,963
JBrowse link
G Nefh neurofilament heavy treatment ISO DNA:deletions:cds:multiple (human) RGD PMID:9931323, PMID:10686419 RGD:1302518, RGD:13525000 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Nefl neurofilament light treatment
disease_progression
ISO protein:increased expression:serum, csf RGD PMID:10686419, PMID:26273687 RGD:13525000, RGD:13525006 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Nefm neurofilament medium IGI RGD PMID:16006557 RGD:9698444 NCBI chr15:44,855,307...44,860,604
Ensembl chr15:44,855,310...44,860,604
JBrowse link
G Nek1 NIMA-related kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:26945885, PMID:27455347 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment ISO mRNA, protein:decreased expression:primary motor cortex, spinal cord (human) RGD PMID:18957896, PMID:22056419 RGD:6893397, RGD:10412690 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:spinal cord (mouse) RGD PMID:21867702 RGD:5509065 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Optn optineurin ISO protein:increased expression:spinal cord, neuron
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
DNA:deletion, missense mutation, nonsense mutation:exon:p.Q398X, p.E478G (human)
DNA:missense mutations, nonsense mutation:cds, intron:multiple
ClinVar
CTD
PMID:21059646, PMID:25096716, PMID:25741868, PMID:21825243, PMID:20428114, PMID:21613650 RGD:6480502, RGD:6480506, RGD:6480504 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
JBrowse link
G Pgf placental growth factor ISO RGD PMID:22119626 RGD:6483573 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Pla2g4a phospholipase A2 group IVA ISO CTD Direct Evidence: marker/mechanism CTD PMID:15816863 NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:28070599 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pon2 paraoxonase 2 ISO DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2 (human) RGD PMID:16822964 RGD:5509925 NCBI chr 4:30,344,705...30,380,119
Ensembl chr 4:30,344,709...30,380,119
JBrowse link
G Pon3 paraoxonase 3 ISO DNA:SNP:intron:rs10487132, association with LD block containing both PON3 and PON2 (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar PMID:25741868, PMID:28492532, PMID:16822964 RGD:5509925 NCBI chr 4:30,311,981...30,338,679
Ensembl chr 4:30,311,982...30,338,679
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha 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 chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A ISO protein:increased expression:spinal cord, astrocyte, microglia (mouse) RGD PMID:23118353 RGD:9999418 NCBI chr 1:101,511,899...101,515,043
Ensembl chr 1:101,511,901...101,514,974
JBrowse link
G Prph peripherin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to ClinVar PMID:15322088, PMID:15446584, PMID:25741868, PMID:28492532 NCBI chr 7:140,742,406...140,746,197
Ensembl chr 7:140,742,418...140,746,197
JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISS MouseDO NCBI chr 1:84,978,220...84,986,536
Ensembl chr 1:84,978,206...84,986,581
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:spinal cord, neuron, glia
CTD Direct Evidence: marker/mechanism
CTD PMID:11220737, PMID:15816863, PMID:14511332 RGD:5688235 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 treatment IEP RGD PMID:25113670 RGD:9590123 NCBI chr 4:49,941,046...50,140,764
Ensembl chr 4:49,941,304...50,140,762
JBrowse link
G Rara retinoic acid receptor, alpha IEP RGD PMID:17956549 RGD:2314289 NCBI chr10:86,838,819...86,884,224
Ensembl chr10:86,860,685...86,884,210
JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27713094 NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:28,018,040...28,035,395
Ensembl chr15:28,018,040...28,035,389
Ensembl chr15:28,018,040...28,035,389
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:18000159 RGD:6482832 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Scfd1 sec1 family domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27455348 NCBI chr 6:72,124,408...72,202,703
Ensembl chr 6:72,124,417...72,202,713
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:12067231 RGD:8554892 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24885036 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
JBrowse link
G Sirt1 sirtuin 1 ISO protein:increased expression:spinal cord (mouse) RGD PMID:17581637 RGD:2290573 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slc11a2 solute carrier family 11 member 2 onset ISO DNA:SNP: :rs407135 (human) RGD PMID:21276595 RGD:5688710 NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO mRNA:processing errors:spinal cord, motor cortex (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:11723166, PMID:9539131 RGD:1302517 NCBI chr 3:92,518,679...92,665,731
Ensembl chr 3:92,640,752...92,665,644
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 5:78,222,504...78,249,358
Ensembl chr 5:78,222,504...78,249,358
JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20132478 NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
JBrowse link
G Sod1 superoxide dismutase 1 treatment ISO human gene in a rat model;DNA:missense mutation:cds:p.G93A (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
protein:increased expression:cerebrospinal fluid (human)
ClinVar
CTD
PMID:7887412, PMID:9065559, PMID:10025816, PMID:10930589, PMID:11220737, PMID:11590119, PMID:11723166, PMID:12586733, PMID:12626432, PMID:16495328, PMID:17097207, PMID:17319283, PMID:17496168, PMID:18233996, PMID:19635794, PMID:19929749, PMID:20132483, PMID:20177826, PMID:20348957, PMID:20515040, PMID:21867702, PMID:23583883, PMID:24885036, PMID:25164820, PMID:25741868, PMID:30503815, PMID:18947433, PMID:26826269, PMID:23147550 RGD:2312367, RGD:13524551, RGD:8655880 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8866423 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
mRNA:increased expression:spinal cord
CTD
ClinVar
PMID:19765191, PMID:25741868, PMID:28492532, PMID:23851366 RGD:11561951 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
G Steap2 STEAP2 metalloreductase disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 4:25,506,604...25,527,088
Ensembl chr 4:25,507,463...25,527,087
JBrowse link
G Tardbp TAR DNA binding protein disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:
DNA:mutation:cds:p.G295S(human)
protein:increased phosphorylation:brain
DNA:mutation:cds:p.M337V(human)
CTD PMID:18372902, PMID:21167262, PMID:22879928, PMID:23104007, PMID:24019256, PMID:24252504, PMID:21752789, PMID:18372902, PMID:21651514, PMID:17023659, PMID:18309045, PMID:21998667 RGD:5687134, RGD:5687192, RGD:5687173, RGD:5687158, RGD:5687157, RGD:5687137 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tfam transcription factor A, mitochondrial severity ISO RGD PMID:22354563 RGD:6767572 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:spinal cord RGD PMID:13678668 RGD:12904653 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf21 TNF receptor superfamily member 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24113175 NCBI chr 9:20,546,159...20,621,051
Ensembl chr 9:20,546,159...20,621,051
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17434459 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to ClinVar PMID:16051700, PMID:19405049, PMID:25741868 NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
JBrowse link
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:30311386 NCBI chr 9:9,961,020...9,968,420
Ensembl chr 9:9,961,021...9,968,486
JBrowse link
G Txnrd1 thioredoxin reductase 1 susceptibility ISO DNA:SNPs:intron:rs6539137, rs4630362 (human) RGD PMID:18996185 RGD:5685032 NCBI chr 7:26,946,124...26,984,400
Ensembl chr 7:26,946,125...26,984,400
JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:21857683, PMID:25333069, PMID:25616961, PMID:25741868, PMID:26075709, PMID:28492532, PMID:21857683 RGD:5147832 NCBI chr  X:18,723,313...18,726,732
Ensembl chr  X:18,723,341...18,726,732
JBrowse link
G Unc13a unc-13 homolog A no_association ISO DNA:SNP:intron:rs12608932 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:19734901, PMID:20385924, PMID:19734901 RGD:5686382, RGD:5686384 NCBI chr16:20,056,398...20,103,951
Ensembl chr16:20,056,765...20,097,287
JBrowse link
G Vapb VAMP associated protein B and C ISO DNA:missense mutation:cds:p.P56S (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, typical
ClinVar PMID:15372378, PMID:16187141, PMID:16967488, PMID:17804640, PMID:18322265, PMID:18677189, PMID:19183264, PMID:20008544, PMID:20377183, PMID:20447143, PMID:20577002, PMID:21275991, PMID:21685205, PMID:21933185, PMID:22131369, PMID:22258555, PMID:22454507, PMID:23333387, PMID:23446633, PMID:23771029, PMID:24212516, PMID:24681403, PMID:26467025, PMID:26566915, PMID:27978769, PMID:28492532, PMID:15372378 RGD:5688230 NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:15034582, PMID:20604808, PMID:22270372, PMID:22909335, PMID:23333620, PMID:25617006, PMID:25741868, PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP:intron:rs7975232(human) RGD PMID:26190642 RGD:11560790 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16410746 RGD:1580568 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Zfp106 zinc finger protein 106 ISS MouseDO NCBI chr 3:112,279,782...112,330,288
Ensembl chr 3:112,283,112...112,320,762
JBrowse link
amyotrophic lateral sclerosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Bsg basigin (Ok blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 7:12,875,536...12,882,753
Ensembl chr 7:12,875,537...12,882,753
JBrowse link
G Calb2 calbindin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:41,482,743...41,509,617
Ensembl chr19:41,482,728...41,509,658
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
JBrowse link
G Cd7 Cd7 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:110,229,931...110,232,812
Ensembl chr10:110,229,922...110,232,843
JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Cntf ciliary neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11951178 NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
JBrowse link
G Dbx1 developing brain homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:104,969,218...104,973,648
Ensembl chr 1:104,969,218...104,973,648
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
OMIM
ClinVar
PMID:12062019, PMID:12627231, PMID:15326253, PMID:16240349, PMID:16505168, PMID:17824900, PMID:18094236, PMID:18364389, PMID:18812314, PMID:19279216, PMID:19506225, PMID:22777741, PMID:23143281, PMID:23881933, PMID:24484619, PMID:24627108, PMID:24881494, PMID:25025039, PMID:25299611, PMID:25382069, PMID:25741868, PMID:26392352, PMID:26429889, PMID:26467025, PMID:26662454, PMID:27132499, PMID:27573046, PMID:28130640, PMID:28430856, PMID:28492532, PMID:28717666, PMID:28792508, PMID:29089398, PMID:29339765, PMID:29525180 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
JBrowse link
G Fgf6 fibroblast growth factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:159,563,798...159,572,333
Ensembl chr 4:159,563,798...159,572,333
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Fmo1 flavin containing dimethylaniline monoxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127561 NCBI chr13:80,712,885...80,745,095
Ensembl chr13:80,712,882...80,745,347
JBrowse link
G Folh1 folate hydrolase 1 treatment ISO RGD PMID:12876198 RGD:737756 NCBI chr 1:150,323,768...150,395,415
Ensembl chr 1:150,323,768...150,395,415
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Fus FUS RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
G Gbx2 gastrulation brain homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:97,063,265...97,065,855
Ensembl chr 9:97,063,728...97,065,817
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15264227 NCBI chr  X:127,561,843...127,829,763
Ensembl chr  X:127,562,660...127,829,753
JBrowse link
G Gsx2 GS homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr14:35,650,985...35,652,709
Ensembl chr14:35,650,985...35,652,709
JBrowse link
G Hsf1 heat shock transcription factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24256636 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:266,782,835...266,794,389
Ensembl chr 1:266,781,617...266,794,431
JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Jund JunD proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:20,485,028...20,486,707
Ensembl chr16:20,485,029...20,486,707
JBrowse link
G Kif3c kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:27,768,943...27,815,611
Ensembl chr 6:27,768,943...27,815,611
JBrowse link
G Kif5a kinesin family member 5A ISO mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Kif5c kinesin family member 5C ISO mRNA:increased expression:frontal cortex, cerebellum (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr 3:35,014,157...35,257,417
Ensembl chr 3:35,014,538...35,257,407
JBrowse link
G Lat linker for activation of T cells ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:197,765,644...197,770,669
Ensembl chr 1:197,765,644...197,770,669
JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Masp2 mannan-binding lectin serine peptidase 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:24033266, PMID:28492532 NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
JBrowse link
G Mt1 metallothionein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24163136 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Nefh neurofilament heavy ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Otog otogelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:102,258,124...102,327,201
Ensembl chr 1:102,258,124...102,327,201
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
JBrowse link
G Penk proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 5:17,056,412...17,061,762
Ensembl chr 5:17,056,419...17,061,837
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17204329 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Prph peripherin ISO OMIM NCBI chr 7:140,742,406...140,746,197
Ensembl chr 7:140,742,418...140,746,197
JBrowse link
G Rxra retinoid X receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:6,272,560...6,295,354
Ensembl chr 3:6,211,789...6,295,908
JBrowse link
G Selplg selectin P ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:48,577,905...48,579,196
Ensembl chr12:48,577,905...48,579,196
JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:128,073,344...128,080,878
Ensembl chr 6:127,941,526...128,080,889
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:23757202, PMID:25741868, PMID:28492532 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Shc1 SHC adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:188,745,503...188,757,066
Ensembl chr 2:188,745,503...188,757,066
JBrowse link
G Six2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:8,952,572...8,955,893
Ensembl chr 6:8,952,572...8,956,276
JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:164,274,710...164,279,199
Ensembl chr 3:164,274,710...164,279,378
JBrowse link
G Sncg synuclein, gamma ISS OMIM:105400 MouseDO NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
JBrowse link
G Sod1 superoxide dismutase 1 ISO 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
ClinVar Annotator: match by OMIM:105400
DNA:missense mutation:cds:p.D90A (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutation:cds:p.I113T (human)
OMIM
ClinVar
CTD
PMID:1259395, PMID:7496169, PMID:7501156, PMID:7635196, PMID:7643359, PMID:7647793, PMID:7655469, PMID:7655471, PMID:7673954, PMID:7755363, PMID:7836951, PMID:7887412, PMID:7891072, PMID:7911198, PMID:7951249, PMID:7985500, PMID:7997024, PMID:8004110, PMID:8058797, PMID:8069312, PMID:8105280, PMID:8179602, PMID:8298637, PMID:8351519, PMID:8446170, PMID:8528216, PMID:8560268, PMID:8572658, PMID:8650157, PMID:8682505, PMID:8813280, PMID:8830861, PMID:8875253, PMID:8900247, PMID:8909456, PMID:8938700, PMID:8967745, PMID:8990014, PMID:9008494, PMID:9029070, PMID:9052802, PMID:9101297, PMID:9228005, PMID:9365366, PMID:9455977, PMID:9506558, PMID:9706719, PMID:9743498, PMID:9817920, PMID:9857958, PMID:10400992, PMID:10430435, PMID:10439968, PMID:10624810, PMID:10732812, PMID:10735277, PMID:10764647, PMID:10809943, PMID:10889018, PMID:11181815, PMID:11220750, PMID:11284995, PMID:11346368, PMID:11369193, PMID:11464950, PMID:11467054, PMID:11675877, PMID:11676987, PMID:11796754, PMID:11951178, PMID:12127151, PMID:12165567, PMID:12358759, PMID:12402272, PMID:12442272, PMID:12482932, PMID:12729761, PMID:12732844, PMID:12783432, PMID:12792143, PMID:12963370, PMID:13129804, PMID:13804989, PMID:14506936, PMID:14623191, PMID:14658402, PMID:14755739, PMID:14875225, PMID:14970233, PMID:15056757, PMID:15069187, PMID:15096637, PMID:15258228, PMID:15264227, PMID:15522870, PMID:15579468, PMID:15634772, PMID:15843422, PMID:15952898, PMID:15987780, PMID:16020530, PMID:16038516, PMID:16105836, PMID:16291929, PMID:16476815, PMID:16674979, PMID:16793335, PMID:16945901, PMID:17146286, PMID:17255946, PMID:17257622, PMID:17319283, PMID:17333220, PMID:17394531, PMID:17420412, PMID:17453632, PMID:17486090, PMID:17543992, PMID:18055113, PMID:18301754, PMID:18319614, PMID:18428003, PMID:18504130, PMID:18608106, PMID:18666828, PMID:18669821, PMID:18951903, PMID:19139308, PMID:19176896, PMID:19196430, PMID:19227972, PMID:19259395, PMID:19332692, PMID:19363716, PMID:19483195, PMID:19618436, PMID:19635794, PMID:19685200, PMID:19703565, PMID:19751676, PMID:19800308, PMID:19815002, PMID:19847927, PMID:19922148, PMID:19965850, PMID:20079423, PMID:20184515, PMID:20184519, PMID:20184521, PMID:20184893, PMID:20189984, PMID:20309572, PMID:20385392, PMID:20399791, PMID:20404329, PMID:20404910, PMID:20460594, PMID:20472325, PMID:20485746, PMID:20540686, PMID:20562451, PMID:20577002, PMID:20801718, PMID:21140194, PMID:21226712, PMID:21257910, PMID:21329474, PMID:21506602, PMID:21549128, PMID:21549454, PMID:21603025, PMID:21651514, PMID:21700707, PMID:21700728, PMID:21901496, PMID:21930207, PMID:22094223, PMID:22264771, PMID:22292843, PMID:22332887, PMID:22475618, PMID:22499346, PMID:22589106, PMID:22595972, PMID:22645277, PMID:22647583, PMID:22670878, PMID:22722621, PMID:22941224, PMID:22985433, PMID:23062701, PMID:23100398, PMID:23118898, PMID:23280792, PMID:23286750, PMID:23291526, PMID:23321002, PMID:23447461, PMID:23541756, PMID:23612299, PMID:23726301, PMID:23760509, PMID:23773010, PMID:23784844, PMID:23792044, PMID:23837654, PMID:23881933, PMID:23949607, PMID:23962495, PMID:24134191, PMID:24139042, PMID:24163136, PMID:24256636, PMID:24325798, PMID:24369116, PMID:24439480, PMID:24472010, PMID:24591457, PMID:24704493, PMID:24769475, PMID:24793051, PMID:24908169, PMID:24971881, PMID:25025039, PMID:25052939, PMID:25096579, PMID:25109764, PMID:25178511, PMID:25299611, PMID:25382069, PMID:25509359, PMID:25578810, PMID:25600987, PMID:25741868, PMID:25792239, PMID:25806427, PMID:26059445, PMID:26069299, PMID:26362407, PMID:26467025, PMID:26694608, PMID:26742954, PMID:26791423, PMID:26843957, PMID:27257061, PMID:27261500, PMID:27584932, PMID:27604643, PMID:27810918, PMID:27884173, PMID:27978769, PMID:28003435, PMID:28089114, PMID:28089144, PMID:28105640, PMID:28222900, PMID:28291249, PMID:28325066, PMID:28401346, PMID:28430856, PMID:28492532, PMID:28620717, PMID:28642336, PMID:28877271, PMID:29367447, PMID:29861044, PMID:30311386, PMID:30637102, PMID:10809943, PMID:8815157, PMID:20184521, PMID:8446170 RGD:8655873, RGD:8655862, RGD:8655618, RGD:737689 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISS OMIM:105400 MouseDO NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19411082, PMID:20082726, PMID:20675015, PMID:20708823, PMID:22575358, PMID:24033266, PMID:24477737, PMID:26467025, PMID:28492532 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tiam1 TIAM Rac1 associated GEF 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:29,931,083...30,061,173
Ensembl chr11:29,933,163...30,051,103
JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:66,296,509...66,342,186
Ensembl chr 8:66,296,883...66,342,176
JBrowse link
G Tmsb4x thymosin beta 4, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:28,593,405...28,617,267
Ensembl chr  X:28,593,405...28,595,395
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:18,723,313...18,726,732
Ensembl chr  X:18,723,341...18,726,732
JBrowse link
G Vapb VAMP associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:105400 MouseDO NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
JBrowse link
G Vps54 VPS54 subunit of GARP complex ISS OMIM:105400 MouseDO NCBI chr14:106,153,407...106,207,715
Ensembl chr14:106,153,575...106,207,658
JBrowse link
G Wnt7a Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:122,994,425...123,040,609
Ensembl chr 4:122,994,425...123,040,609
JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:128,409,425...128,455,786
Ensembl chr  X:128,409,472...128,453,000
JBrowse link
amyotrophic lateral sclerosis type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Masp2 mannan-binding lectin serine peptidase 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10
ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
ClinVar Annotator: match by OMIM:612069
OMIM
ClinVar
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 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
amyotrophic lateral sclerosis type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11
ClinVar Annotator: match by OMIM:612577
OMIM
ClinVar
PMID:17572665, PMID:18180444, PMID:18261132, PMID:18556664, PMID:19118816, PMID:20630877, PMID:21655088, PMID:21705420, PMID:22131434, PMID:22998443, PMID:23336365, PMID:23489662, PMID:24878229, PMID:25510381, PMID:25614874, PMID:25617005, PMID:25741868, PMID:26467025, PMID:28051077, PMID:28492532, PMID:29342275, PMID:29650794, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
amyotrophic lateral sclerosis type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Optn optineurin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 OMIM
ClinVar
PMID:11834836, PMID:11978762, PMID:12208142, PMID:12789137, PMID:12939304, PMID:14597044, PMID:15226658, PMID:15326130, PMID:15761120, PMID:16205626, PMID:16358725, PMID:16619239, PMID:17122126, PMID:17293779, PMID:17615537, PMID:19096531, PMID:19145250, PMID:19172505, PMID:19672125, PMID:20428114, PMID:20671613, PMID:20981092, PMID:21074290, PMID:21217154, PMID:21220178, PMID:21550138, PMID:21613650, PMID:21852022, PMID:22402017, PMID:22708870, PMID:22892313, PMID:22995991, PMID:23062601, PMID:25333069, PMID:25741868, PMID:25943890, PMID:26467025, PMID:26566915, PMID:28492532, PMID:29650794 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
amyotrophic lateral sclerosis type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
ClinVar Annotator: match by OMIM:613954
OMIM
ClinVar
PMID:15034582, PMID:16247064, PMID:16321991, PMID:16790606, PMID:16984901, PMID:17329348, PMID:17763460, PMID:17889967, PMID:18341608, PMID:19225410, PMID:19237541, PMID:19364651, PMID:19704082, PMID:20008565, PMID:20104022, PMID:20512113, PMID:20604808, PMID:21145000, PMID:21320982, PMID:21387114, PMID:21816654, PMID:21822278, PMID:21920633, PMID:21984748, PMID:22078486, PMID:22137929, PMID:22270372, PMID:22686199, PMID:22898872, PMID:22900631, PMID:22909335, PMID:23029473, PMID:23056506, PMID:23152587, PMID:23169451, PMID:23333620, PMID:23498975, PMID:24196964, PMID:24829604, PMID:25125609, PMID:25388089, PMID:25492614, PMID:25617006, PMID:25618255, PMID:25741868, PMID:25775548, PMID:26105173, PMID:26467025, PMID:26555887, PMID:27209344, PMID:27226613, PMID:27768726, PMID:27790088, PMID:28130640, PMID:28360103, PMID:28430856, PMID:28492532, PMID:28692196, PMID:29754758, PMID:29899994 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
amyotrophic lateral sclerosis type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
ClinVar Annotator: match by OMIM:300857
OMIM
ClinVar
PMID:21857683, PMID:24771548, PMID:25333069, PMID:25616961, PMID:25741868, PMID:26075709, PMID:28492532 NCBI chr  X:18,723,313...18,726,732
Ensembl chr  X:18,723,341...18,726,732
JBrowse link
amyotrophic lateral sclerosis type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 16, juvenile
ClinVar Annotator: match by OMIM:614373
OMIM
ClinVar
PMID:21842496, PMID:24088041, PMID:25704016, PMID:25741868, PMID:26205306, PMID:26633545, PMID:28492532 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
JBrowse link
amyotrophic lateral sclerosis type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 17
ClinVar Annotator: match by OMIM:614696
OMIM
ClinVar
PMID:16431024, PMID:16807408, PMID:16941655, PMID:20352044, PMID:20592581, PMID:21222599, PMID:25741868, PMID:26836416, PMID:28430856, PMID:28492532, PMID:29431110, PMID:29525180 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
amyotrophic lateral sclerosis type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pfn1 profilin 1 ISO ClinVar Annotator: match by OMIM:614808 OMIM
ClinVar
PMID:22801503 NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
JBrowse link
amyotrophic lateral sclerosis type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 19
ClinVar Annotator: match by OMIM:615515
OMIM
ClinVar
PMID:24119685, PMID:25741868 NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
JBrowse link
amyotrophic lateral sclerosis type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 20 OMIM
ClinVar
PMID:23455423 NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
JBrowse link
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 21
ClinVar Annotator: match by term: Myopathy, distal, 2
ClinVar Annotator: match by OMIM:606070
OMIM
ClinVar
PMID:9837826, PMID:19344878, PMID:24686783, PMID:25154462, PMID:25185957, PMID:25677933, PMID:25741868, PMID:25771394, PMID:25952333, PMID:26467025, PMID:26493020, PMID:26528920, PMID:26780671, PMID:28492532, PMID:29525178 NCBI chr18:28,351,691...28,390,764
Ensembl chr18:28,361,283...28,390,717
JBrowse link
amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by OMIM:616208 OMIM
ClinVar
PMID:25374358 NCBI chr 9:82,415,599...82,419,918
Ensembl chr 9:82,415,605...82,419,288
JBrowse link
amyotrophic lateral sclerosis type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa11 annexin A11 ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 23 ClinVar
OMIM
PMID:28469040 NCBI chr16:3,867,193...3,912,043
Ensembl chr16:3,867,208...3,912,148
JBrowse link
Amyotrophic Lateral Sclerosis Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek1 NIMA-related kinase 1 susceptibility ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 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 chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
Amyotrophic Lateral Sclerosis Type 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 ClinVar
OMIM
PMID:29342275, PMID:29566793 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
amyotrophic lateral sclerosis type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fus FUS RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
DNA:mutations:cds:
ClinVar Annotator: match by OMIM:608030
OMIM
ClinVar
PMID:12840784, PMID:12858291, PMID:19251627, PMID:19251628, PMID:19450904, PMID:19741215, PMID:19861302, PMID:20018407, PMID:20124201, PMID:20138404, PMID:20142531, PMID:20385912, PMID:20544928, PMID:20577002, PMID:20579074, PMID:20606625, PMID:20660363, PMID:20668259, PMID:20668261, PMID:20699327, PMID:21158017, PMID:21261515, PMID:21280085, PMID:21604077, PMID:21881207, PMID:21907581, PMID:21943958, PMID:21949354, PMID:22055719, PMID:22292843, PMID:22340366, PMID:22645277, PMID:22722621, PMID:22863194, PMID:22980027, PMID:23046859, PMID:23056579, PMID:23085990, PMID:23577159, PMID:23731953, PMID:23834483, PMID:23881933, PMID:24033266, PMID:24080306, PMID:24204307, PMID:24262168, PMID:24280224, PMID:24439481, PMID:24899262, PMID:24908169, PMID:25173930, PMID:25274782, PMID:25289647, PMID:25324524, PMID:25382069, PMID:25457557, PMID:25585530, PMID:25625564, PMID:25631824, PMID:25741868, PMID:26251528, PMID:26452761, PMID:26467025, PMID:26601740, PMID:26725112, PMID:26795035, PMID:27123482, PMID:28273913, PMID:28492532, PMID:28642336, PMID:30279455, PMID:30349096, PMID:30879340, PMID:19251628 RGD:9685712 NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
amyotrophic lateral sclerosis type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apcdd1l APC down-regulated 1 like ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:171,879,728...171,958,155
Ensembl chr 3:171,878,143...171,957,996
JBrowse link
G Atp5f1e ATP synthase F1 subunit epsilon ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,563,105...172,566,007
Ensembl chr 3:172,563,105...172,566,010
JBrowse link
G Ctsz cathepsin Z ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,527,107...172,537,877
Ensembl chr 3:172,527,107...172,537,877
JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Mir296 microRNA 296 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,357,490...172,357,567
Ensembl chr 3:172,357,490...172,357,567
JBrowse link
G Mir298 microRNA 298 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,357,943...172,358,024
Ensembl chr 3:172,357,943...172,358,024
JBrowse link
G Nelfcd negative elongation factor complex member C/D ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,510,840...172,527,118
Ensembl chr 3:172,510,874...172,526,740
JBrowse link
G Npepl1 aminopeptidase-like 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,195,115...172,207,685
Ensembl chr 3:172,195,844...172,207,685
JBrowse link
G Prelid3b PRELI domain containing 3B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,567,092...172,574,382
Ensembl chr 3:172,567,732...172,574,333
JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,154,739...172,183,699
Ensembl chr 3:172,154,754...172,183,732
JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114
JBrowse link
G Vapb VAMP associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8
ClinVar Annotator: match by OMIM:608627
OMIM
ClinVar
PMID:15372378, PMID:16187141, PMID:16967488, PMID:17804640, PMID:18322265, PMID:18677189, PMID:19183264, PMID:20008544, PMID:20377183, PMID:20447143, PMID:20577002, PMID:20940299, PMID:21275991, PMID:21685205, PMID:21933185, PMID:22131369, PMID:22258555, PMID:22454507, PMID:22878164, PMID:23333387, PMID:23446633, PMID:23771029, PMID:23971766, PMID:24212516, PMID:24681403, PMID:25741868, PMID:26362251, PMID:26467025, PMID:26566915, PMID:27978769, PMID:28492532 NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647
JBrowse link
G Zfp831 zinc finger protein 831 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,691,455...172,804,804
Ensembl chr 3:172,692,452...172,804,916
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 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
ClinVar Annotator: match by OMIM:611895
OMIM
ClinVar
PMID:16501576, PMID:17462671, PMID:17703939, PMID:17886298, PMID:17900154, PMID:18087731, PMID:18852347, PMID:19153377, PMID:19363631, PMID:19444281, PMID:19449021, PMID:19488901, PMID:20577002, PMID:22190368, PMID:22292843, PMID:22384259, PMID:22499346, PMID:22522484, PMID:22645277, PMID:23047679, PMID:23155438, PMID:23447461, PMID:23463871, PMID:23665167, PMID:25382069, PMID:25741868, PMID:26255299, PMID:26467025, PMID:28444446, PMID:28492532 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 9
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
ClinVar PMID:16501576, PMID:17462671, PMID:17703939, PMID:17886298, PMID:17900154, PMID:18087731, PMID:18852347, PMID:19153377, PMID:19363631, PMID:19444281, PMID:19449021, PMID:19488901, PMID:20577002, PMID:22190368, PMID:22292843, PMID:22384259, PMID:22499346, PMID:22522484, PMID:22645277, PMID:23047679, PMID:23155438, PMID:23447461, PMID:23463871, PMID:23665167, PMID:25382069, PMID:25741868, PMID:26255299, PMID:26467025, PMID:28444446, PMID:28492532 NCBI chr15:28,018,040...28,035,395
Ensembl chr15:28,018,040...28,035,389
Ensembl chr15:28,018,040...28,035,389
JBrowse link
Amyotrophic Lateral Sclerosis, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar PMID:28492532 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 susceptibility
no_association
ISO DNA:mutation:cds: p.T1482I (human)
CTD Direct Evidence: marker/mechanism
CTD
OMIM
PMID:16051700, PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
JBrowse link
Angiomatoid Fibrous Histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb1 cAMP responsive element binding protein 1 ISO OMIM NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
JBrowse link
antisynthetase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta ISO ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
ARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190753 NCBI chr 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
JBrowse link
Arthrogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg6 adhesion G protein-coupled receptor G6 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:26004201, PMID:26752647 NCBI chr 1:8,593,342...8,751,540
Ensembl chr 1:8,593,075...8,751,198
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16826520, PMID:16826531 NCBI chr 9:94,302,218...94,308,591 JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:23236030, PMID:23261301, PMID:24782201, PMID:25099528, PMID:25708584, PMID:25741868 NCBI chr 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:30311386 NCBI chr 6:69,971,227...69,974,037
Ensembl chr 6:69,971,227...69,974,037
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Myh8 myosin heavy chain 8 ISO Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q RGD PMID:15282353 RGD:1600548 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:31260566 NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:8423615, PMID:11152147, PMID:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:31680123 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:20839240, PMID:21911697, PMID:22473935, PMID:25658027, PMID:25735680, PMID:25741868, PMID:28492532, PMID:30311386, PMID:31680123 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:20220177, PMID:21291453, PMID:25741868, PMID:26392352, PMID:26794302, PMID:28492532, PMID:30311386 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO DNA:mutation:splice junction: RGD PMID:19542096 RGD:13209012 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal
ClinVar PMID:25741868, PMID:12592607 RGD:1599481 NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita
ClinVar PMID:25741868, PMID:28492532, PMID:12865991 RGD:1599490 NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:11738357, PMID:23757202, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
JBrowse link
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018, PMID:24195946, PMID:25741868, PMID:28492532, PMID:30611313 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
Arthrogryposis Multiplex Congenita 3, Myogenic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE ClinVar PMID:27782104 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE OMIM
ClinVar
PMID:19542096, PMID:24319099, PMID:26467025, PMID:27782104 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
Arthrogryposis Multiplex Congenita 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 ClinVar
OMIM
PMID:25741868, PMID:28516161, PMID:29053766, PMID:30244176 NCBI chr 3:9,800,322...9,807,318
Ensembl chr 3:9,800,322...9,807,328
JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar
OMIM
PMID:29432562 NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
JBrowse link
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Arthrogryposis, mental retardation, and seizures
ClinVar Annotator: match by OMIM:615553
OMIM
ClinVar
PMID:24031089, PMID:25741868, PMID:28492532, PMID:28777481 NCBI chr 2:219,705,618...219,741,886
Ensembl chr 2:219,705,620...219,741,886
JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy ClinVar
OMIM
PMID:26633546 NCBI chr 6:109,121,524...109,162,433
Ensembl chr 6:109,124,330...109,162,267
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868, PMID:31319225 NCBI chr 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM
ClinVar
PMID:8151641, PMID:11668108, PMID:15052268, PMID:16896922, PMID:17994566, PMID:18853461, PMID:19274792, PMID:21851503, PMID:22753090, PMID:24782640, PMID:24917129, PMID:25741868, PMID:28492532, PMID:31479177 NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 ClinVar
OMIM
PMID:20190753, PMID:25741868, PMID:28492532 NCBI chr 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
JBrowse link
autosomal dominant adult-onset proximal spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Adult proximal spinal muscular atrophy, autosomal dominant ClinVar PMID:25741868, PMID:28492532 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Vapb VAMP associated protein B and C ISO ClinVar Annotator: match by term: Adult proximal spinal muscular atrophy, autosomal dominant
ClinVar Annotator: match by term: Spinal muscular atrophy, late-onset, finkel type
OMIM
ClinVar
PMID:15372378, PMID:16187141, PMID:16967488, PMID:17804640, PMID:18322265, PMID:18677189, PMID:19183264, PMID:20008544, PMID:20377183, PMID:20447143, PMID:20577002, PMID:21275991, PMID:21685205, PMID:21933185, PMID:22131369, PMID:22258555, PMID:22454507, PMID:22878164, PMID:23333387, PMID:23446633, PMID:23771029, PMID:23971766, PMID:24212516, PMID:24681403, PMID:25741868, PMID:26467025, PMID:26566915, PMID:27978769, PMID:28492532 NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647
JBrowse link
autosomal dominant centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:31260566 NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar Annotator: match by OMIM:123000
ClinVar
OMIM
PMID:2712793, PMID:11326272, PMID:11326338, PMID:19449425, PMID:20358596, PMID:26467025, PMID:28492532, PMID:30311386, PMID:11326272 RGD:734571 NCBI chr 2:80,131,563...80,256,948
Ensembl chr 2:80,131,563...80,256,954
JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar PMID:2712793, PMID:11326272, PMID:11326338, PMID:19449425, PMID:20358596, PMID:28492532 NCBI chr 2:80,267,724...80,293,204
Ensembl chr 2:80,269,587...80,293,181
JBrowse link
autosomal dominant distal hereditary motor neuronopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:8114789, PMID:22628388, PMID:23664116, PMID:23664119, PMID:23664120, PMID:24336790, PMID:25497877, PMID:25741868, PMID:26467025, PMID:27549087, PMID:27784775, PMID:28251916, PMID:28492532, PMID:28832565, PMID:32581362 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:12730604, PMID:20697106, PMID:21102439, PMID:22459677, PMID:25326635, PMID:25609763, PMID:25741868 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:17101916 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:1461881, PMID:11528396, PMID:14506069, PMID:14681881, PMID:15108294, PMID:15797190, PMID:17431882, PMID:18802676, PMID:19157874, PMID:19158098, PMID:22157136, PMID:23449687, PMID:23566544, PMID:23929295, PMID:24022109, PMID:24033266, PMID:24342282, PMID:24388491, PMID:24922459, PMID:25439726, PMID:25454169, PMID:25568292, PMID:25741868, PMID:26298607, PMID:26467025, PMID:26709713, PMID:27450922, PMID:28492532, PMID:30311386 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:25886484, PMID:28492532 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:26659848, PMID:28492532 NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522
JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:19696032, PMID:22088787, PMID:26467025, PMID:28492532 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:1520078, PMID:8179305, PMID:10463355, PMID:15668982, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20460441, PMID:21115951, PMID:21288981, PMID:21454511, PMID:22065612, PMID:22291064, PMID:22526352, PMID:22702953, PMID:24319099, PMID:24789864, PMID:25741868, PMID:26048687, PMID:26467025, PMID:26948711, PMID:28492532 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
DNA:frameshift mutation:cds:c.625_626delA (human)
DNA:deletion, missense mutation, snp:cds, intron:p.K208del, p.R377H, g.IVS9+5G>C (human)
DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar
OMIM
PMID:1839274, PMID:1849984, PMID:2280636, PMID:8619549, PMID:9106535, PMID:10080180, PMID:10612827, PMID:10655060, PMID:10662742, PMID:10739764, PMID:10814726, PMID:10939567, PMID:11138304, PMID:11503164, PMID:11561226, PMID:11731280, PMID:11792809, PMID:11901143, PMID:12032588, PMID:12057196, PMID:12075506, PMID:12196663, PMID:12628721, PMID:12629077, PMID:12649505, PMID:12673789, PMID:12748643, PMID:12920062, PMID:12927431, PMID:14597414, PMID:14615128, PMID:14627682, PMID:14659775, PMID:14684700, PMID:14749366, PMID:15053843, PMID:15140538, PMID:15148145, PMID:15205219, PMID:15372542, PMID:15475483, PMID:15668447, PMID:15744034, PMID:15998779, PMID:16174718, PMID:16218190, PMID:16386954, PMID:16440304, PMID:16772334, PMID:17136397, PMID:17274801, PMID:17377071, PMID:18035086, PMID:18396274, PMID:18414213, PMID:18549403, PMID:18551513, PMID:18551515, PMID:18564364, PMID:18604166, PMID:18646565, PMID:18795223, PMID:19084400, PMID:19318026, PMID:19424285, PMID:19427440, PMID:19432833, PMID:19524666, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19882644, PMID:19933576, PMID:20301609, PMID:20376791, PMID:20498703, PMID:20848652, PMID:20886652, PMID:20980393, PMID:21173262, PMID:21315846, PMID:21520333, PMID:21535365, PMID:21632249, PMID:21840938, PMID:22224630, PMID:22266370, PMID:22326558, PMID:22431096, PMID:22464770, PMID:22883396, PMID:22918509, PMID:23077635, PMID:23183350, PMID:23328570, PMID:23349452, PMID:23362510, PMID:23427149, PMID:23497705, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24237251, PMID:24349489, PMID:24375749, PMID:24503780, PMID:24508248, PMID:24642510, PMID:24656463, PMID:24721642, PMID:24768879, PMID:24806962, PMID:24846508, PMID:24990833, PMID:25214167, PMID:25286833, PMID:25324471, PMID:25326637, PMID:25637381, PMID:25741868, PMID:25823658, PMID:25948554, PMID:25982065, PMID:25987458, PMID:26098624, PMID:26165385, PMID:26183555, PMID:26332594, PMID:26443318, PMID:26467025, PMID:26602028, PMID:26752647, PMID:27220833, PMID:27532257, PMID:27585670, PMID:27717888, PMID:27723096, PMID:27813223, PMID:27854218, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28492532, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28785654, PMID:29040816, PMID:29057633, PMID:29149195, PMID:29237675, PMID:29676528, PMID:29753763, PMID:29791652, PMID:29893365, PMID:30055862, PMID:30165862, PMID:30311386, PMID:17446932, PMID:17701980, PMID:10814726, PMID:10080180 RGD:2306094, RGD:12791273, RGD:11062274, RGD:12791020 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
ClinVar Annotator: match by term: Emery-dreifuss muscular dystrophy 4, autosomal dominant
ClinVar
OMIM
PMID:17761684, PMID:18414213, PMID:21572417, PMID:22287014, PMID:23352163, PMID:23959263, PMID:24123366, PMID:24123876, PMID:24892279, PMID:25133958, PMID:25214167, PMID:25401298, PMID:25741868, PMID:25976027, PMID:26467025, PMID:26539891, PMID:26770814, PMID:26870756, PMID:27066551, PMID:27197992, PMID:27305979, PMID:28017257, PMID:28074886, PMID:28178086, PMID:28492532, PMID:28750076, PMID:29625556, PMID:29961767, PMID:30029642, PMID:30275942, PMID:30311386, PMID:30564623 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO 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 chr 6:98,884,269...99,153,551 JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant
ClinVar Annotator: match by OMIM:614302
OMIM
ClinVar
PMID:21391237, PMID:21636032, PMID:23812740, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS
ClinVar Annotator: match by term: Myosin storage myopathy
DNA:missense mutation: :p.R1845W (23014C>T) (human)
OMIM
ClinVar
PMID:1430197, PMID:1552912, PMID:1638703, PMID:1944483, PMID:1975517, PMID:7581410, PMID:7662452, PMID:7731997, PMID:7848420, PMID:8186698, PMID:8254035, PMID:8268932, PMID:8533830, PMID:9105042, PMID:9140839, PMID:9826622, PMID:9835779, PMID:10024460, PMID:10065021, PMID:10328076, PMID:10521296, PMID:10725281, PMID:10750581, PMID:10882745, PMID:11133230, PMID:11186938, PMID:11447480, PMID:11498078, PMID:11723028, PMID:11861410, PMID:11861413, PMID:11968089, PMID:12081993, PMID:12379228, PMID:12707239, PMID:12818575, PMID:12820698, PMID:12975413, PMID:14520662, PMID:15010274, PMID:15136674, PMID:15358028, PMID:15483641, PMID:15528230, PMID:15556047, PMID:15563892, PMID:15699387, PMID:15757018, PMID:15769782, PMID:15856146, PMID:15858117, PMID:16115294, PMID:16137545, PMID:16199542, PMID:16253604, PMID:16267253, PMID:16630449, PMID:16858239, PMID:16918501, PMID:17118657, PMID:17125710, PMID:17336526, PMID:17438619, PMID:17476457, PMID:17560888, PMID:17612745, PMID:18029407, PMID:18374998, PMID:18383048, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18533079, PMID:18555187, PMID:18761664, PMID:18953637, PMID:19149795, PMID:19150014, PMID:19336582, PMID:19412328, PMID:19645038, PMID:19880069, PMID:20031618, PMID:20086309, PMID:20350521, PMID:20376763, PMID:20474083, PMID:20664766, PMID:20800588, PMID:20817590, PMID:20975235, PMID:21127202, PMID:21239446, PMID:21302287, PMID:21310275, PMID:21896538, PMID:21959974, PMID:22112859, PMID:22337857, PMID:22429680, PMID:22455086, PMID:22763267, PMID:22765922, PMID:22857948, PMID:22958901, PMID:23054336, PMID:23074333, PMID:23197161, PMID:23233322, PMID:23283745, PMID:23290139, PMID:23299917, PMID:23349452, PMID:23396983, PMID:23403236, PMID:23508784, PMID:23549607, PMID:23674513, PMID:23690394, PMID:23711808, PMID:23751935, PMID:23785128, PMID:23794396, PMID:23861362, PMID:24033266, PMID:24047955, PMID:24093860, PMID:24111713, PMID:24298987, PMID:24503780, PMID:24510615, PMID:24691700, PMID:24704860, PMID:24721642, PMID:24793961, PMID:25031304, PMID:25086479, PMID:25125180, PMID:25132132, PMID:25163446, PMID:25163546, PMID:25342278, PMID:25351510, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25649125, PMID:25714468, PMID:25741868, PMID:25937619, PMID:26220970, PMID:26332594, PMID:26458567, PMID:26467025, PMID:26497160, PMID:26573135, PMID:26688388, PMID:26743238, PMID:26914223, PMID:26936621, PMID:26969327, PMID:27082122, PMID:27153395, PMID:27247418, PMID:27532257, PMID:27576561, PMID:27600940, PMID:27707468, PMID:27737317, PMID:27831900, PMID:27841901, PMID:27854218, PMID:27974200, PMID:28138913, PMID:28193612, PMID:28241245, PMID:28356264, PMID:28408708, PMID:28420666, PMID:28481356, PMID:28492532, PMID:28518168, PMID:28588093, PMID:28606303, PMID:28615295, PMID:28790153, PMID:28798025, PMID:28878402, PMID:29121657, PMID:29212898, PMID:29300372, PMID:30297972, PMID:30311386, PMID:30511546, PMID:30871747, PMID:31333075, PMID:31568572, PMID:14520662 RGD:12792959 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1E
ClinVar Annotator: match by OMIM:603511
OMIM
ClinVar
PMID:9973293, PMID:10489050, PMID:20682716, PMID:21376592, PMID:22334415, PMID:22366786, PMID:24033266, PMID:24594375, PMID:24920671, PMID:25741868, PMID:26205529, PMID:26371419, PMID:26467025, PMID:26847086, PMID:27642634, PMID:27671536, PMID:28233300, PMID:28492532, PMID:28794355, PMID:30564623 NCBI chr 4:2,711,329...2,774,969
Ensembl chr 4:2,711,385...2,774,890
JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnpo3 transportin 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F OMIM
ClinVar
PMID:11222786, PMID:23543484, PMID:23667635, PMID:25741868, PMID:28492532 NCBI chr 4:56,820,023...56,897,310
Ensembl chr 4:56,820,023...56,897,338
JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:15367920, PMID:24647604, PMID:25741868, PMID:28492532 NCBI chr14:11,199,114...11,204,670
Ensembl chr14:11,198,896...11,202,669
JBrowse link
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 OMIM
ClinVar
PMID:9150160, PMID:10330340, PMID:18055493, PMID:19556129, PMID:22443334, PMID:26467025, PMID:27259757, PMID:28492532, PMID:28602176, PMID:28881388 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
ClinVar Annotator: match by OMIM:157640
OMIM
ClinVar
PMID:632821, PMID:2067633, PMID:2725645, PMID:11431686, PMID:11571332, PMID:11897778, PMID:12073019, PMID:12210792, PMID:12565911, PMID:12872260, PMID:14467368, PMID:14557557, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15534189, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16929381, PMID:16940310, PMID:16943369, PMID:17088268, PMID:17420318, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19189930, PMID:19251978, PMID:19307547, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19629138, PMID:19752458, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20220442, PMID:20227526, PMID:20301791, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20981092, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22006280, PMID:22189570, PMID:22237560, PMID:22342071, PMID:22494076, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22863191, PMID:22931735, PMID:22987704, PMID:22995991, PMID:23084792, PMID:23212759, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23545419, PMID:23783014, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24331360, PMID:24508722, PMID:24725338, PMID:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25488682, PMID:25585994, PMID:25741868, PMID:25850945, PMID:26095671, PMID:26104464, PMID:26357557, PMID:26467025, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:26968897, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28284481, PMID:28337550, PMID:28471437, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:28837072, PMID:28901595, PMID:29029963, PMID:29190809, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:29992832, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ClinVar PMID:25741868 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
ClinVar Annotator: match by OMIM:609283
OMIM
ClinVar
PMID:8644740, PMID:10364542, PMID:10926541, PMID:11756613, PMID:12112115, PMID:25741868, PMID:28492532 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by OMIM:609286
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
ClinVar
OMIM
PMID:1634620, PMID:10522883, PMID:11431692, PMID:12163192, PMID:15668446, PMID:17614277, PMID:19353676, PMID:19513767, PMID:20479361, PMID:20659899, PMID:21689831, PMID:24018892, PMID:25355836, PMID:25741868, PMID:26206283, PMID:26467025, PMID:27551684, PMID:28492532, PMID:28812649, PMID:29458409 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ClinVar PMID:16685652, PMID:21555342, PMID:22155748, PMID:22176657, PMID:23197651, PMID:23596069, PMID:24033266, PMID:25741868, PMID:26123486, PMID:26251896, PMID:27535533 NCBI chr10:94,944,243...94,961,795
Ensembl chr10:94,944,436...94,961,791
JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
ClinVar Annotator: match by OMIM:610131
OMIM
ClinVar
PMID:16685652, PMID:21555342, PMID:22155748, PMID:22176657, PMID:23197651, PMID:23596069, PMID:24033266, PMID:25741868, PMID:26123486, PMID:26251896, PMID:27535533, PMID:28492532 NCBI chr10:94,968,836...94,979,259
Ensembl chr10:94,968,836...94,979,259
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
ClinVar Annotator: match by OMIM:613077
OMIM
ClinVar
PMID:19664747, PMID:21646632, PMID:26467025, PMID:28492532, PMID:28812649 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
autosomal recessive centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bin1 bridging integrator 1 ISO ClinVar Annotator: match by OMIM:255200
ClinVar Annotator: match by term: Autosomal recessive centronuclear myopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive
ClinVar
CTD
PMID:17676042, PMID:18414213, PMID:20142620, PMID:22912834, PMID:22960267, PMID:24033266, PMID:24549043, PMID:24755653, PMID:25262827, PMID:25741868, PMID:26101835, PMID:26467025, PMID:28492532, PMID:29103045, PMID:29950440 NCBI chr18:25,163,575...25,222,139
Ensembl chr18:25,163,561...25,222,135
JBrowse link
G Speg striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:82,571,333...82,628,684
Ensembl chr 9:82,571,269...82,628,709
JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive type OMIM
ClinVar
PMID:11146471, PMID:23951358, PMID:25741868 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive
ClinVar
OMIM
PMID:2007407, PMID:10587585, PMID:10655060, PMID:10739751, PMID:10739764, PMID:10810087, PMID:10868844, PMID:10999791, PMID:10999845, PMID:11078466, PMID:11136544, PMID:11792809, PMID:12927424, PMID:15205219, PMID:16181372, PMID:16364671, PMID:16415042, PMID:18414213, PMID:18728124, PMID:19011997, PMID:19201734, PMID:19418082, PMID:19859838, PMID:20130076, PMID:20625965, PMID:22224630, PMID:22266370, PMID:22431096, PMID:22464770, PMID:22700598, PMID:23183350, PMID:23313286, PMID:23427149, PMID:23853504, PMID:23861362, PMID:24033266, PMID:24503780, PMID:24846508, PMID:25741868, PMID:26467025, PMID:26602028, PMID:26662654, PMID:27532257, PMID:27585670, PMID:27723096, PMID:28492532, PMID:29149195, PMID:29237675, PMID:30165862, PMID:30311386 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
autosomal recessive hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin heavy chain 7 ISO 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 chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
autosomal recessive limb-girdle muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:18414213, PMID:23606453, PMID:24022920, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:31395899 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
JBrowse link
G Astn2 astrotactin 2 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 5:81,179,614...82,168,528
Ensembl chr 5:81,179,605...82,168,427
JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:7720071, PMID:9266733, PMID:10330340, PMID:10679950, PMID:12461690, PMID:14578192, PMID:14981715, PMID:15221789, PMID:15351423, PMID:15689361, PMID:15725583, PMID:16100770, PMID:16141003, PMID:16650086, PMID:17318636, PMID:18055493, PMID:18414213, PMID:18854868, PMID:18854869, PMID:19835634, PMID:20635405, PMID:21204801, PMID:21984748, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27142102, PMID:28492532, PMID:30311386 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:9536092, PMID:11251997, PMID:11884389, PMID:15580566, PMID:16770780, PMID:17060380, PMID:17210839, PMID:17275750, PMID:19380584, PMID:20472890, PMID:23465283, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26467025, PMID:26498160, PMID:27483260, PMID:27930701, PMID:28492532, PMID:29961767, PMID:30055862 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:12796534, PMID:14678801, PMID:15469449, PMID:17512949, PMID:18832576, PMID:18853459, PMID:19493611, PMID:20535123, PMID:22213072, PMID:22297152, PMID:24033266, PMID:24239059, PMID:24438169, PMID:24838345, PMID:25741868, PMID:25868377, PMID:25987458, PMID:26077327, PMID:26290895, PMID:26467025, PMID:27666772, PMID:28492532 NCBI chr 4:115,700,942...115,901,873
Ensembl chr 4:115,712,850...115,901,873
JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:11741828, PMID:12666124, PMID:14647208, PMID:15060126, PMID:15574464, PMID:15580560, PMID:15833432, PMID:15886712, PMID:16634037, PMID:16786213, PMID:17554798, PMID:18060779, PMID:18593008, PMID:18639457, PMID:19820980, PMID:19835634, PMID:19900540, PMID:21220724, PMID:21228398, PMID:22264518, PMID:22981120, PMID:23576288, PMID:23591631, PMID:24033266, PMID:24447024, PMID:25048216, PMID:25560911, PMID:25741868, PMID:26363967, PMID:26467025, PMID:26574668, PMID:26833294, PMID:28492532, PMID:30311386 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:12920062, PMID:15205219, PMID:15475483, PMID:15998779, PMID:17377071, PMID:18414213, PMID:18549403, PMID:18795223, PMID:19318026, PMID:19424285, PMID:19427440, PMID:19638735, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24721642, PMID:25741868, PMID:26467025, PMID:26602028, PMID:27896052, PMID:28492532, PMID:28679633, PMID:28785654, PMID:30311386 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:15466003, PMID:17869517, PMID:17906881, PMID:19299310, PMID:22323514, PMID:22554691, PMID:23894383, PMID:25741868, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:23757202, PMID:24033266, PMID:25741868 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO DNA:missense mutation:exon:p.T184M, (c.551C>T) (human)
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar PMID:17923109 RGD:11532762 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive ClinVar PMID:9032047, PMID:9192266, PMID:9585331, PMID:12746421, PMID:17994539, PMID:18285821, PMID:18421900, PMID:18996010, PMID:22095924, PMID:24033266, PMID:25135358, PMID:25741868, PMID:26404900, PMID:26453141, PMID:28492532 NCBI chr10:82,770,905...82,785,142
Ensembl chr10:82,770,905...82,785,142
JBrowse link
G Sgcb sarcoglycan, beta ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:7581449, PMID:9032047, PMID:10993494, PMID:15032976, PMID:15938573, PMID:19770540, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr14:37,113,194...37,128,623
Ensembl chr14:37,113,210...37,128,737
JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:10974018, PMID:12794684, PMID:18414213, PMID:23861362, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26968544, PMID:28401079, PMID:28492532 NCBI chr10:32,062,946...32,471,454
Ensembl chr10:32,062,946...32,471,454
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
JBrowse link
G Trim32 tripartite motif-containing 32 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 5:81,431,554...81,449,023
Ensembl chr 5:81,431,600...81,442,451
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:15466003, PMID:17869517, PMID:17906881, PMID:19299310, PMID:22323514, PMID:22554691, PMID:23894383, PMID:25741868, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:22335739, PMID:22526018, PMID:23396983, PMID:23861362, PMID:23975875, PMID:24033266, PMID:24503780, PMID:24892279, PMID:25163546, PMID:25589632, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28822653 NCBI chr 3:63,565,160...63,837,815 JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 ClinVar
OMIM
PMID:9158149, PMID:21953594, PMID:22166137, PMID:24957499, PMID:25525159, PMID:25741868, PMID:26467025, PMID:27854218, PMID:28492532 NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
JBrowse link
G Trappc11 trafficking protein particle complex 11 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 ClinVar PMID:23830518, PMID:25741868, PMID:28492532, PMID:29158550, PMID:31575891 NCBI chr16:47,874,993...47,920,822
Ensembl chr16:47,874,993...47,920,823
JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 ClinVar
OMIM
PMID:25741868, PMID:27066570 NCBI chr 8:130,615,482...130,631,144
Ensembl chr 8:130,615,711...130,617,833
JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Popdc3 popeye domain containing 3 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 OMIM
ClinVar
PMID:31610034 NCBI chr20:50,394,617...50,422,551
Ensembl chr20:50,394,650...50,422,560
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A
ClinVar Annotator: match by term: Leyden-Moebius muscular dystrophy
ClinVar Annotator: match by term: Calpainopathy
ClinVar Annotator: match by OMIM:253600
ClinVar
OMIM
PMID:1691480, PMID:7318636, PMID:7720071, PMID:7762565, PMID:7795603, PMID:8624690, PMID:9150160, PMID:9246005, PMID:9266733, PMID:9452114, PMID:9642272, PMID:9655129, PMID:9762961, PMID:9771675, PMID:9777948, PMID:10102422, PMID:10330340, PMID:10567047, PMID:10679950, PMID:11053681, PMID:11166169, PMID:11245732, PMID:11297944, PMID:11371436, PMID:11525884, PMID:11731278, PMID:12461690, PMID:12890817, PMID:14578192, PMID:14645990, PMID:14981715, PMID:15138196, PMID:15221789, PMID:15351423, PMID:15689361, PMID:15725583, PMID:15733273, PMID:15843148, PMID:15884399, PMID:16001438, PMID:16100770, PMID:16141003, PMID:16372320, PMID:16411092, PMID:16542520, PMID:16607617, PMID:16627476, PMID:16650086, PMID:16971480, PMID:17157502, PMID:17236769, PMID:17258832, PMID:17318636, PMID:17526799, PMID:17562833, PMID:17702496, PMID:17897828, PMID:17979987, PMID:17994539, PMID:18055493, PMID:18073330, PMID:18258189, PMID:18334579, PMID:18337726, PMID:18414213, PMID:18563459, PMID:18854868, PMID:18854869, PMID:19015733, PMID:19048948, PMID:19156839, PMID:19226146, PMID:19285864, PMID:19364062, PMID:19556129, PMID:19835634, PMID:20044116, PMID:20517216, PMID:20580976, PMID:20635405, PMID:20694146, PMID:21172462, PMID:21204801, PMID:21288883, PMID:21386772, PMID:21520333, PMID:21624972, PMID:21896784, PMID:21984748, PMID:22006685, PMID:22057634, PMID:22079131, PMID:22158424, PMID:22378277, PMID:22443334, PMID:22505582, PMID:22926650, PMID:23169433, PMID:23553538, PMID:23666804, PMID:23677060, PMID:23757202, PMID:23821418, PMID:23864287, PMID:24033266, PMID:24715573, PMID:24803842, PMID:24846670, PMID:25046369, PMID:25079074, PMID:25135358, PMID:25214167, PMID:25215589, PMID:25252031, PMID:25326637, PMID:25512505, PMID:25525159, PMID:25741868, PMID:25987458, PMID:26060040, PMID:26301378, PMID:26404900, PMID:26467025, PMID:26484845, PMID:26501342, PMID:26583491, PMID:26632398, PMID:26677118, PMID:26810512, PMID:26886200, PMID:27011640, PMID:27020652, PMID:27023906, PMID:27055500, PMID:27066545, PMID:27066551, PMID:27066573, PMID:27081656, PMID:27142102, PMID:27234031, PMID:27259757, PMID:27262448, PMID:27363342, PMID:27431290, PMID:27447704, PMID:27500519, PMID:27558075, PMID:27671536, PMID:27708273, PMID:27854218, PMID:27884173, PMID:28300015, PMID:28403181, PMID:28492532, PMID:28602176, PMID:28881388, PMID:28915917, PMID:29685414, PMID:29797799, PMID:29970176, PMID:30028523, PMID:30056071, PMID:30107846, PMID:30311386, PMID:30323756, PMID:30564623, PMID:30919934, PMID:205172126, PMID:10814721 RGD:734687 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868, PMID:31263448 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:253601
OMIM
ClinVar
CTD
PMID:1483054, PMID:2764718, PMID:8808603, PMID:9731526, PMID:9731527, PMID:10196377, PMID:10766988, PMID:11053681, PMID:11468312, PMID:11532985, PMID:12471055, PMID:12796534, PMID:14673575, PMID:14678801, PMID:15293763, PMID:15469449, PMID:15477515, PMID:15535137, PMID:15827562, PMID:15835269, PMID:16010686, PMID:16087766, PMID:16100712, PMID:16606933, PMID:16705711, PMID:16891820, PMID:16934466, PMID:16996541, PMID:17070050, PMID:17287450, PMID:17331981, PMID:17562833, PMID:17698709, PMID:17825554, PMID:17828519, PMID:17897828, PMID:17994539, PMID:18276788, PMID:18294055, PMID:18306167, PMID:18392839, PMID:18832576, PMID:18853459, PMID:19015158, PMID:19084402, PMID:19154541, PMID:19493611, PMID:19528035, PMID:19953532, PMID:20301480, PMID:20497525, PMID:20535123, PMID:20544924, PMID:20558759, PMID:20623375, PMID:20817457, PMID:21173544, PMID:21522182, PMID:21816046, PMID:22057634, PMID:22174839, PMID:22194990, PMID:22246893, PMID:22297152, PMID:22318734, PMID:22616201, PMID:22849992, PMID:22995991, PMID:23185377, PMID:23243261, PMID:23254335, PMID:23406536, PMID:23519732, PMID:23530687, PMID:23641709, PMID:23757202, PMID:24033266, PMID:24123366, PMID:24488599, PMID:24838345, PMID:25135358, PMID:25143362, PMID:25312915, PMID:25326637, PMID:25493284, PMID:25574751, PMID:25591676, PMID:25591678, PMID:25741868, PMID:25783436, PMID:25807536, PMID:25821721, PMID:25868377, PMID:25898921, PMID:25900324, PMID:25987458, PMID:26000923, PMID:26060040, PMID:26088049, PMID:26273692, PMID:26404900, PMID:26436962, PMID:26467025, PMID:26579332, PMID:26671124, PMID:26806107, PMID:26916285, PMID:27066573, PMID:27229680, PMID:27290639, PMID:27363342, PMID:27447704, PMID:27602406, PMID:27641898, PMID:27647186, PMID:27666772, PMID:27821570, PMID:27854218, PMID:27858744, PMID:27884173, PMID:28104817, PMID:28403181, PMID:28492532, PMID:28600779, PMID:28877744, PMID:29138090, PMID:29382405, PMID:29797799, PMID:29970176, PMID:30098242, PMID:30107846, PMID:30292141, PMID:30311386, PMID:30366248, PMID:30564623, PMID:32860008 NCBI chr 4:115,700,942...115,901,873
Ensembl chr 4:115,712,850...115,901,873
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868, PMID:31263448 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 ClinVar PMID:24033266, PMID:25741868, PMID:27854218, PMID:28492532, PMID:29300372 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Vdr vitamin D receptor ISO protein:increased expression:muscle: RGD PMID:27558075 RGD:13210781 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C
ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type
ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C
DNA:mutation:cds: c.787G>A(p.Glu263Lys) (human)
ClinVar Annotator: match by OMIM:253700
OMIM
ClinVar
PMID:1303286, PMID:7481775, PMID:8923014, PMID:8968757, PMID:9658457, PMID:9673983, PMID:9781048, PMID:10447257, PMID:10874299, PMID:10942431, PMID:12040521, PMID:12566530, PMID:14981741, PMID:15322984, PMID:15479193, PMID:16832103, PMID:18285821, PMID:18414213, PMID:18421900, PMID:19770540, PMID:20345928, PMID:20623375, PMID:22095924, PMID:22240777, PMID:23929688, PMID:24033266, PMID:24534832, PMID:24552312, PMID:25605665, PMID:25741868, PMID:25802879, PMID:26467025, PMID:27708273, PMID:28492532, PMID:32214227, PMID:25802879 RGD:13605619 NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
G Sgca sarcoglycan, alpha treatment ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D
ClinVar Annotator: match by term: Duchenne-like autosomal recessive muscular dystrophy, type 2
ClinVar Annotator: match by term: Sarcoglycanopathy
ClinVar Annotator: match by term: Sarcoglycanopathies
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2D
ClinVar Annotator: match by OMIM:608099
OMIM
ClinVar
PMID:7657792, PMID:7663524, PMID:7668821, PMID:8069911, PMID:8528203, PMID:8866424, PMID:9032047, PMID:9153448, PMID:9192266, PMID:9266733, PMID:9455986, PMID:9585331, PMID:10842281, PMID:10942431, PMID:10993494, PMID:11121445, PMID:11475588, PMID:11693784, PMID:12075495, PMID:12566530, PMID:12746421, PMID:14595658, PMID:15298081, PMID:15736300, PMID:15833425, PMID:16616845, PMID:16778590, PMID:16787395, PMID:17562833, PMID:17994539, PMID:18252745, PMID:18285821, PMID:18414213, PMID:18421900, PMID:18535179, PMID:18996010, PMID:19781108, PMID:19798725, PMID:21031578, PMID:21856579, PMID:22095924, PMID:22303798, PMID:24033266, PMID:24464767, PMID:24565866, PMID:24742800, PMID:25046369, PMID:25135358, PMID:25214167, PMID:25741868, PMID:26404900, PMID:26453141, PMID:26467025, PMID:26916285, PMID:26934379, PMID:26944168, PMID:27066551, PMID:27120200, PMID:27363342, PMID:28403181, PMID:28492532, PMID:29351619, PMID:30107846, PMID:30311386, PMID:30703231, PMID:30764848, PMID:17653106 RGD:13605612 NCBI chr10:82,770,905...82,785,142
Ensembl chr10:82,770,905...82,785,142
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: ADHALINOPATHY, PRIMARY ClinVar PMID:18414213, PMID:18728072, PMID:20466733, PMID:25741868, PMID:30744660 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgcb sarcoglycan, beta treatment ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2E
ClinVar Annotator: match by OMIM:604286
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:7581448, PMID:7581449, PMID:8968749, PMID:9032047, PMID:9565988, PMID:9631401, PMID:10660328, PMID:10662809, PMID:10874299, PMID:10942431, PMID:10993494, PMID:11166169, PMID:11369190, PMID:12566530, PMID:12868499, PMID:15032976, PMID:15938573, PMID:15938574, PMID:16524571, PMID:17994539, PMID:18285821, PMID:18996010, PMID:19770540, PMID:20071171, PMID:21480868, PMID:22095924, PMID:23349452, PMID:25135358, PMID:25337728, PMID:25525159, PMID:25741868, PMID:25862795, PMID:26206375, PMID:26404900, PMID:26467025, PMID:27671536, PMID:28403181, PMID:28492532, PMID:28687063, PMID:28883879, PMID:29970176, PMID:28284983, PMID:10678176 RGD:13605613, RGD:13605614 NCBI chr14:37,113,194...37,128,623
Ensembl chr14:37,113,210...37,128,737
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2F
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2f, digenic
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601287
OMIM
ClinVar
CTD
PMID:8841194, PMID:9832045, PMID:10735275, PMID:10838250, PMID:10974018, PMID:12794684, PMID:14564412, PMID:16432241, PMID:17164264, PMID:17994539, PMID:18285821, PMID:18414213, PMID:19259135, PMID:19770540, PMID:19771157, PMID:20675662, PMID:22095924, PMID:22337857, PMID:23695275, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25637381, PMID:25741868, PMID:26077850, PMID:26084686, PMID:26467025, PMID:26633542, PMID:26968544, PMID:27532257, PMID:28401079, PMID:28492532, PMID:28687063 NCBI chr10:32,062,946...32,471,454
Ensembl chr10:32,062,946...32,471,454
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcap titin-cap ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2G
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2G
ClinVar Annotator: match by OMIM:601954
OMIM
ClinVar
PMID:10655062, PMID:15582318, PMID:16911908, PMID:18414213, PMID:18585512, PMID:19035361, PMID:19412328, PMID:20215591, PMID:20474083, PMID:22194935, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24037902, PMID:24503780, PMID:25326637, PMID:25741868, PMID:26332198, PMID:26350513, PMID:26467025, PMID:27532257, PMID:28492532, PMID:30871747 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Astn2 astrotactin 2 ISO ClinVar Annotator: match by term: Sarcotubular myopathy ClinVar PMID:4269389, PMID:10399877, PMID:11822024, PMID:15786463, PMID:15886712, PMID:17994549, PMID:19349376, PMID:21775502, PMID:22025579, PMID:22981120, PMID:23142638, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:81,179,614...82,168,528
Ensembl chr 5:81,179,605...82,168,427
JBrowse link
G Trim32 tripartite motif-containing 32 ISO ClinVar Annotator: match by term: Sarcotubular myopathy
ClinVar Annotator: match by OMIM:254110
OMIM
ClinVar
PMID:4269389, PMID:10399877, PMID:11822024, PMID:15786463, PMID:15886712, PMID:17994549, PMID:19349376, PMID:21775502, PMID:22025579, PMID:22981120, PMID:23142638, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:81,431,554...81,449,023
Ensembl chr 5:81,431,600...81,442,451
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkrp fukutin related protein treatment ISO DNA:deletion, missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
DNA:deletion, missense mutations:exon:p.L319R (c.956T>G), p.P442L (c.1325C>T), c.1136delG (human)
DNA:missense mutation:exon:p.L276I (826C>A) (human)
DNA:missense mutation: :pP89A (human)
DNA:duplications, missense mutations:exon:multiple
DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human)
DNA:missense mutations: :1364C>A, 1486T>A (human)
ClinVar Annotator: match by OMIM:607155
ClinVar
OMIM
PMID:11053680, PMID:11592034, PMID:11741828, PMID:12471058, PMID:12654965, PMID:12666124, PMID:12707425, PMID:12707439, PMID:14523375, PMID:14647208, PMID:14652796, PMID:14742276, PMID:15060126, PMID:15121789, PMID:15574464, PMID:15580560, PMID:15833426, PMID:15833432, PMID:15886712, PMID:16344347, PMID:16368217, PMID:16476814, PMID:16634037, PMID:16786213, PMID:17055682, PMID:17113772, PMID:17446099, PMID:17554798, PMID:17559086, PMID:17952692, PMID:17994539, PMID:18060779, PMID:18160674, PMID:18414213, PMID:18593008, PMID:18639457, PMID:18671187, PMID:18691338, PMID:18752264, PMID:18832576, PMID:19155270, PMID:19244252, PMID:19299310, PMID:19820980, PMID:19833706, PMID:19835634, PMID:19900540, PMID:19917824, PMID:19955119, PMID:20623375, PMID:20961759, PMID:21220724, PMID:21228398, PMID:22264518, PMID:22908982, PMID:22981120, PMID:22983245, PMID:23420653, PMID:23576288, PMID:23591631, PMID:23757202, PMID:23800702, PMID:23894383, PMID:24033266, PMID:24139536, PMID:24257234, PMID:24447024, PMID:25048216, PMID:25560911, PMID:25741868, PMID:25987458, PMID:26363967, PMID:26436962, PMID:26467025, PMID:26574668, PMID:26833294, PMID:26923585, PMID:27439679, PMID:27671536, PMID:27848944,