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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


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neuromuscular disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:1537368 PMID:6243664 PMID:11159947 PMID:12752575 PMID:16098009 PMID:18628786 PMID:25741868 PMID:26622478 PMID:30311386 NCBI chrNW_004936512:10,589,549...10,604,831 JBrowse link
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Neuromuscular Diseases ClinVar PMID:12921789 PMID:15226407 PMID:17227580 PMID:19562689 PMID:24033266 PMID:25470062 PMID:25525159 PMID:28492532 NCBI chrNW_004936484:20,236,320...20,239,385 JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:19623537 PMID:19932619 PMID:24465259 PMID:26199319 PMID:28492532 PMID:30311386 NCBI chrNW_004936659:957,408...1,046,393 JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chrNW_004936659:520,181...565,496 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 chrNW_004936809:1,127,701...1,130,195 JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:25133958 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chrNW_004936505:2,077,206...2,242,079 JBrowse link
G Gjb1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:28492532 PMID:30311386 NCBI chrNW_004936762:389,655...398,035 JBrowse link
G Gpi glucose-6-phosphate isomerase ISO Severe GPI deficiency with neurologic deficits DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P) RGD PMID:9856489 RGD:1600632 NCBI chrNW_004936570:1,582,120...1,608,537 JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:9829280 PMID:20207543 PMID:24611677 PMID:25214167 PMID:25525159 PMID:28492532 PMID:30311386 NCBI chrNW_004936639:259,662...825,170 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 chrNW_004936804:196,592...259,168 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 chrNW_004936580:5,374,208...5,395,442 JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:7527371 PMID:9187667 PMID:9633821 PMID:10093067 PMID:10965800 PMID:11437164 PMID:11835375 PMID:12497641 PMID:12707985 PMID:18347322 PMID:18422810 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chrNW_004936903:583,942...589,160 JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:30311386 NCBI chrNW_004936499:10,534,953...10,553,411 JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:1523566 PMID:3467805 PMID:7728152 PMID:8275092 PMID:9004143 PMID:9543325 PMID:10211478 PMID:10369870 PMID:11523566 PMID:11835375 PMID:12439896 PMID:18592125 PMID:18698610 PMID:21840889 PMID:23224996 PMID:23781966 PMID:24534835 PMID:24646194 PMID:24668782 PMID:24726093 PMID:26076881 PMID:28492532 PMID:30311386 NCBI chrNW_004936724:1,747,015...1,780,298 JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:11571332 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15929042 PMID:16080118 PMID:16177225 PMID:16545482 PMID:16621917 PMID:16638794 PMID:16639411 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17894835 PMID:18294203 PMID:18321754 PMID:18487244 PMID:18546343 PMID:18546365 PMID:18828154 PMID:18991199 PMID:19103152 PMID:19125351 PMID:19251978 PMID:19566497 PMID:19578034 PMID:19752458 PMID:20142534 PMID:20153822 PMID:20438629 PMID:20691285 PMID:20818383 PMID:21236670 PMID:21357833 PMID:21455106 PMID:21515089 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22166854 PMID:22189570 PMID:22616202 PMID:22711370 PMID:22931735 PMID:23212759 PMID:23248042 PMID:23448099 PMID:23804100 PMID:23808377 PMID:24033266 PMID:24122062 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25281868 PMID:25585994 PMID:25713120 PMID:25741868 PMID:26077851 PMID:26104464 PMID:26467025 PMID:26607151 PMID:26755490 PMID:26942291 PMID:27290639 PMID:27345795 PMID:27422324 PMID:27822509 PMID:27838477 PMID:28130605 PMID:28206745 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28812649 PMID:28837072 PMID:28865037 PMID:29272804 PMID:29358615 PMID:29423831 PMID:29474836 PMID:29574624 PMID:29712893 PMID:29920680 PMID:30021052 PMID:30311386 NCBI chrNW_004936483:15,178,947...15,196,277 JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:15466003 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:25741868 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30311386 NCBI chrNW_004936474:27,229,262...27,239,034 JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:30311386 NCBI chrNW_004936499:10,501,837...10,506,793 JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Neuromuscular Diseases
ClinVar Annotator: match by term: Neuromuscular disease
ClinVar Annotator: match by term: Neuromuscular disorder
ClinVar PMID:16084090 PMID:17033962 PMID:17483490 PMID:18253926 PMID:18414213 PMID:19191329 PMID:19645060 PMID:20080402 PMID:20583297 PMID:20839240 PMID:21062345 PMID:21455645 PMID:21911697 PMID:22473935 PMID:23394784 PMID:23553484 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24091937 PMID:24195946 PMID:24627108 PMID:24951453 PMID:25476234 PMID:25637381 PMID:25741868 PMID:26633545 PMID:27854218 PMID:28492532 PMID:28818389 PMID:30311386 PMID:31680349 NCBI chrNW_004936801:1,185,615...1,298,416 JBrowse link
G Sgca sarcoglycan alpha ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:9192266 PMID:12075495 PMID:16778590 PMID:18285821 PMID:19798725 PMID:22095924 PMID:25214167 PMID:26916285 PMID:28403181 PMID:28492532 PMID:30311386 NCBI chrNW_004936490:11,470,155...11,482,377 JBrowse link
G Sgcd sarcoglycan delta ISO ClinVar Annotator: match by term: Neuromuscular Diseases ClinVar PMID:24033266 NCBI chrNW_004936515:6,278,631...6,908,193 JBrowse link
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:25741868 PMID:30311386 NCBI chrNW_004936500:10,345,154...10,352,873 JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chrNW_004936709:948,151...951,430 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 chrNW_004936769:1,424,526...1,447,547 JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:15466003 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:25741868 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30311386 NCBI chrNW_004936474:27,221,691...27,227,226 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 chrNW_004936509:7,733,426...7,999,503 JBrowse link
G Xk X-linked Kx blood group ISO CTD Direct Evidence: marker/mechanism CTD PMID:8004674 PMID:8619554 NCBI chrNW_004936502:4,532,100...4,584,931 JBrowse link
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO OMIM NCBI chrNW_004936566:409,558...468,898 JBrowse link
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO OMIM NCBI chrNW_004936549:4,760,073...4,830,190 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 chrNW_004936566:409,558...468,898 JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO ClinVar Annotator: match by term: 3-MCC Deficiency ClinVar NCBI chrNW_004936549:4,760,073...4,830,190 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 chrNW_004936484:20,236,320...20,239,385 JBrowse link
Acute Recurrent Myoglobinuria, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpin1 lipin 1 ISO OMIM NCBI chrNW_004936532:7,596,279...7,654,139 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 chrNW_004936531:6,899,580...7,019,016 JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chrNW_004936560:42,561...45,748 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 chrNW_004936543:1,032,543...1,040,956 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO OMIM NCBI chrNW_004936563:3,455,205...3,474,955 JBrowse link
Alcohol Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO RGD PMID:14506614 RGD:1581765 NCBI chrNW_004936501:11,818,301...11,836,221 JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a2 solute carrier family 16 member 2 ISO OMIM NCBI chrNW_004936683:803,186...910,143 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 chrNW_004936550:5,931,201...5,943,999 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 chrNW_004936829:429,667...458,943 JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chrNW_004936483:15,096,215...15,179,856 JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO DNA:missense mutation:cds:p.P1073L (3218C>T) (human) OMIM
RGD
PMID:20142534 RGD:15039298 NCBI chrNW_004936483:15,178,947...15,196,277 JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chrNW_004936483:15,086,485...15,097,980 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 chrNW_004936531:6,899,580...7,019,016 JBrowse link
G Foxo1 forkhead box O1 ISO OMIM NCBI chrNW_004936565:5,210,014...5,299,213 JBrowse link
G Pax3 paired box 3 ISO OMIM NCBI chrNW_004936569:4,215,513...4,307,815 JBrowse link
G Pax7 paired box 7 ISO OMIM NCBI chrNW_004936474:5,045,284...5,131,859 JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chrNW_004936737:171,894...211,464 JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chrNW_004936758:101,629...225,496 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 chrNW_004936594:5,478,947...5,516,320 JBrowse link
amyotrophic lateral sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase RNA specific B1 ISO mRNA:decreased expression:motor neuron: RGD PMID:20372915 PMID:22226999 RGD:10755336 RGD:13432092 NCBI chrNW_004936778:1,056,259...1,137,772 JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO protein:increased expression:skeletal muscle RGD PMID:18273716 RGD:5509081 NCBI chrNW_004936621:620,163...639,115 JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis RGD
ClinVar
PMID:11586297 PMID:25741868 PMID:28492532 PMID:28832565 RGD:1599080 NCBI chrNW_004936726:940,696...1,015,771 JBrowse link
G Ang angiogenin no_association ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
DNA:missense mutations
protein:increased expression:cerebrospinal fluid
DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human)
RGD
ClinVar
PMID:16501576 PMID:17462671 PMID:19177252 PMID:22190368 PMID:25741868 RGD:6892707 RGD:6892713 RGD:6892716 RGD:6892718 NCBI chrNW_004936880:39,372...40,070 JBrowse link
G Aox1 aldehyde oxidase 1 ISO RGD PMID:7570184 RGD:734575 NCBI chrNW_004936825:263,725...332,424 JBrowse link
G Apoe apolipoprotein E severity ISO DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) RGD PMID:8899655 RGD:12880359 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Aqp4 aquaporin 4 ISO protein:increased expression:brainstem
mRNA, protein:increased expression:spinal cord
RGD PMID:19089902 PMID:22987392 RGD:5490153 RGD:8662893 NCBI chrNW_004936550:5,931,201...5,943,999 JBrowse link
G Atg5 autophagy related 5 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chrNW_004936564:2,759,085...2,885,394 JBrowse link
G Atox1 antioxidant 1 copper chaperone disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chrNW_004936515:10,962,315...10,982,274 JBrowse link
G Atxn2 ataxin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868 PMID:27377857 NCBI chrNW_004936558:4,127,477...4,188,307 JBrowse link
G Bad BCL2 associated agonist of cell death disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chrNW_004936599:4,924,349...4,933,683 JBrowse link
G Bak1 BCL2 antagonist/killer 1 treatment ISO RGD PMID:20890041 RGD:13506803 NCBI chrNW_004936476:25,347,608...25,354,772 JBrowse link
G Bax BCL2 associated X, apoptosis regulator disease_progression
severity
treatment
ISO RGD PMID:10582606 PMID:20195368 PMID:20890041 PMID:21193837 PMID:24699224 RGD:13506797 RGD:13506800 RGD:13506803 RGD:13506805 RGD:13506907 NCBI chrNW_004936664:2,968,103...2,973,652 JBrowse link
G Bcl2 BCL2 apoptosis regulator disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chrNW_004936497:2,209,136...2,373,580 JBrowse link
G Bcl2l1 BCL2 like 1 disease_progression
treatment
ISO RGD PMID:10582606 PMID:18543336 RGD:13506902 RGD:13506907 NCBI chrNW_004936485:18,654,046...18,707,324 JBrowse link
G Becn1 beclin 1 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chrNW_004936490:17,518,100...17,531,126 JBrowse link
G Bid BH3 interacting domain death agonist ISO RGD PMID:29440992 RGD:13506949 NCBI chrNW_004936807:708,340...750,127 JBrowse link
G Bnip3l BCL2 interacting protein 3 like ISO RGD PMID:29440992 RGD:13506949 NCBI chrNW_004936757:499,485...523,494 JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO mRNA,protein:increased expression:spinal cord: RGD PMID:9225734 RGD:9586057 NCBI chrNW_004936541:5,261,899...5,396,930 JBrowse link
G C3 complement C3 ISO RGD PMID:19050293 RGD:5130169 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G C5ar1 complement C5a receptor 1 ISO RGD PMID:19050293 RGD:5130169 NCBI chrNW_004936664:1,026,216...1,033,438 JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:27713094 NCBI chrNW_004936611:2,074,655...2,101,846 JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chrNW_004936659:2,201,606...2,269,625 JBrowse link
G Camk1g calcium/calmodulin dependent protein kinase IG ISO CTD Direct Evidence: marker/mechanism CTD PMID:23624525 NCBI chrNW_004936557:3,488,883...3,515,819 JBrowse link
G Capn14 calpain 14 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936493:1,925,510...1,949,116 JBrowse link
G Casp3 caspase 3 ISO protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chrNW_004936554:4,571,072...4,593,765 JBrowse link
G Casp9 caspase 9 ISO protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chrNW_004936474:3,178,097...3,196,130 JBrowse link
G Ccs copper chaperone for superoxide dismutase treatment ISO RGD PMID:26826269 RGD:13524551 NCBI chrNW_004936599:2,992,740...3,005,230 JBrowse link
G Cd40lg CD40 ligand ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:20348957 RGD:5490547 NCBI chrNW_004936513:10,607,617...10,620,403 JBrowse link
G Cdk5 cyclin dependent kinase 5 ISO RGD PMID:11343650 RGD:734741 NCBI chrNW_004936527:6,478,934...6,483,848 JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868 PMID:27455348 NCBI chrNW_004936500:82,702...90,525 JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO DNA:mutations:cds:Q206H, I29V (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16807408 RGD:5688711 NCBI chrNW_004936610:2,282,925...2,320,554 JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chrNW_004936471:36,427,598...36,447,903 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 chrNW_004936514:10,680,893...10,695,859 JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chrNW_004936471:36,408,471...36,425,571 JBrowse link
G Cntf ciliary neurotrophic factor susceptibility ISO RGD PMID:11951178 RGD:734796 NCBI chrNW_004936581:3,710,171...3,715,753 JBrowse link
G Ctsh cathepsin H ISO mRNA, protein:increased expression:spinal cord RGD PMID:17583678 RGD:5686391 NCBI chrNW_004936471:37,135,200...37,156,081 JBrowse link
G Dao D-amino acid oxidase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chrNW_004936769:744,862...758,086 JBrowse link
G Dbr1 debranching RNA lariats 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23104007 NCBI chrNW_004936540:504,638...515,913 JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to
ClinVar PMID:15326253 PMID:16240349 PMID:17824900 PMID:18812314 PMID:19506225 PMID:22777741 PMID:23143281 PMID:25025039 PMID:25382069 PMID:25741868 PMID:26429889 PMID:26467025 PMID:26662454 PMID:27132499 PMID:28130640 PMID:28430856 PMID:28492532 PMID:28717666 NCBI chrNW_004936556:601,550...632,321 JBrowse link
G Ddx20 DEAD-box helicase 20 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chrNW_004936690:400,563...413,488 JBrowse link
G Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chrNW_004936490:16,842,901...16,878,717 JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO protein:decreased expression:mitochondrion: RGD PMID:24399935 RGD:9589066 NCBI chrNW_004936493:6,963,406...7,013,256 JBrowse link
G Dpp6 dipeptidyl peptidase like 6 no_association ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:rs10260404 (human)
CTD
RGD
PMID:18084291 PMID:18708572 PMID:20137488 RGD:5687181 RGD:5687188 NCBI chrNW_004936527:8,574,455...9,423,445 JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO protein:increased expression:spinal cord RGD PMID:12675919 RGD:2301741 NCBI chrNW_004936663:1,127,047...1,157,263 JBrowse link
G Elp3 elongator acetyltransferase complex subunit 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chrNW_004936675:933,698...1,014,919 JBrowse link
G Epo erythropoietin disease_progression ISO protein:decreased expression:cerebrospinal fluid RGD PMID:17368721 RGD:10395391 NCBI chrNW_004936543:742,722...745,332 JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936586:4,065,767...5,100,690 JBrowse link
G Ewsr1 EWS RNA binding protein 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chrNW_004936657:3,296,217...3,323,473 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 chrNW_004936564:5,736,908...5,842,210 JBrowse link
G Fus FUS RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21408206 PMID:22055719 PMID:30455313 RGD:5509900 RGD:9685710 NCBI chrNW_004936501:13,529,732...13,541,102 JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chrNW_004936518:4,291,391...4,310,752 JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11723166 NCBI chrNW_004936541:1,265,915...1,275,232 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 chrNW_004936864:67,608...71,543 JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28884921 NCBI chrNW_004936487:16,031,832...16,063,779 JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 treatment ISO human protein in a rat model RGD PMID:26113413 RGD:13506239 NCBI chrNW_004936636:617,376...640,424 JBrowse link
G Grn granulin precursor disease_progression
onset
ISO DNA:mutations: :
protein:increased expression:spinal cord, microglia
RGD PMID:18184915 PMID:21107132 RGD:5509593 RGD:5509619 NCBI chrNW_004936541:793,548...800,271 JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO RGD PMID:12675919 RGD:2301741 NCBI chrNW_004936706:266,462...277,256 JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO RGD PMID:12675919 RGD:2301741 NCBI chrNW_004936536:6,730,070...6,893,818 JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16681429 NCBI chrNW_004936792:531,076...579,083 JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16109392 NCBI chrNW_004936599:2,197,681...2,200,642 JBrowse link
G Hdac4 histone deacetylase 4 severity ISO RGD PMID:23824486 RGD:9681450 NCBI chrNW_004936745:1,730,743...1,942,071 JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chrNW_004936711:640,002...642,580 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 chrNW_004936871:666,961...670,910 JBrowse link
G Hmgb1 high mobility group box 1 severity ISO RGD PMID:23639787 RGD:10402056 NCBI chrNW_004936472:25,236,728...25,246,585 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 chrNW_004936828:827,660...839,088 JBrowse link
G Igf1r insulin like growth factor 1 receptor onset ISO mRNA:decreased expression:spinal cord (rat) RGD PMID:18683239 RGD:12904708 NCBI chrNW_004936483:4,563,995...4,860,231 JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO protein:increased expression:spinal cord, astrocyte RGD PMID:18441505 RGD:2311519 NCBI chrNW_004936489:11,447,043...11,523,695 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 chrNW_004936548:646,019...1,120,426 JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chrNW_004936485:8,857,688...8,894,270 JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO protein:decreased expression:brainstem RGD PMID:22987392 RGD:8662893 NCBI chrNW_004936740:555,948...589,219 JBrowse link
G Kdr kinase insert domain receptor ISO protein:decreased expression:spinal cord RGD PMID:16410746 RGD:1580568 NCBI chrNW_004936482:17,537,697...17,581,320 JBrowse link
G Keap1 kelch like ECH associated protein 1 ISO mRNA:increased expression:primary motor cortex (human) RGD PMID:18957896 RGD:6893397 NCBI chrNW_004936659:785,059...793,775 JBrowse link
G Kif1b kinesin family member 1B onset ISO mRNA:increased expression, decreased expression:spinal cord, sciatic nerve (mouse)
mRNA:decreased expression:precentral gyrus (human)
RGD PMID:17418584 PMID:24904291 RGD:12738468 RGD:12738469 NCBI chrNW_004936623:4,091,093...4,222,510 JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936646:1,697,531...1,730,376 JBrowse link
G LOC101956249 optineurin ISO DNA:missense mutations, nonsense mutation:cds, intron:multiple
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
DNA:deletion, missense mutation, nonsense mutation:exon:p.Q398X, p.E478G (human)
protein:increased expression:spinal cord, neuron
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:20428114 PMID:21059646 PMID:21613650 PMID:21825243 PMID:25096716 PMID:25741868 RGD:6480502 RGD:6480504 RGD:6480506 NCBI chrNW_004936862:488,591...516,819 JBrowse link
G Lrrk2 leucine rich repeat kinase 2 ISO mRNA:increased expression:skeletal muscle RGD PMID:21375368 RGD:5508417 NCBI chrNW_004936607:628,469...761,117 JBrowse link
G Maml1 mastermind like transcriptional coactivator 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chrNW_004936739:1,006,273...1,051,338 JBrowse link
G Map1lc3a microtubule associated protein 1 light chain 3 alpha ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chrNW_004936561:6,104,748...6,106,348 JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chrNW_004936560:3,988,696...4,197,953 JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chrNW_004936476:23,237,762...23,310,211 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:19796283 RGD:7207054 NCBI chrNW_004936551:5,167,909...5,175,149 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:13204793 RGD:7207054 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord
RGD PMID:19796283 PMID:20441996 RGD:13204793 RGD:7207054 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Mobp myelin associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868 PMID:27455348 NCBI chrNW_004936473:28,663,986...28,709,394 JBrowse link
G Mstn myostatin ISO RGD PMID:16837207 RGD:2303556 NCBI chrNW_004936506:7,988,879...7,996,260 JBrowse link
G Mt3 metallothionein 3 ISO RGD PMID:12388585 PMID:12417341 PMID:17097207 RGD:6480495 RGD:6480625 RGD:6480627 NCBI chrNW_004936475:8,864,512...8,866,516 JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association
susceptibility
ISO DNA:polymorphism: :c.677C>T(human) RGD PMID:21128869 PMID:21868135 RGD:11565111 RGD:11565173 NCBI chrNW_004936474:623,438...637,849 JBrowse link
G Mtnr1a melatonin receptor 1A disease_progression ISO protein:decreased expression:spinal chord RGD PMID:23537713 RGD:13524569 NCBI chrNW_004936554:3,013,106...3,047,171 JBrowse link
G Mtrex Mtr4 exosome RNA helicase ISO mRNA:increased expression:peripheral blood lymphocyte (human) RGD PMID:23006766 RGD:11041891 NCBI chrNW_004936480:12,357,637...12,458,728 JBrowse link
G Nefh neurofilament heavy treatment ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
DNA:deletions:cds:multiple (human)
RGD
ClinVar
PMID:9931323 PMID:10686419 PMID:25741868 RGD:1302518 RGD:13525000 NCBI chrNW_004936657:3,443,406...3,453,096 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 chrNW_004936757:1,642,122...1,646,499 JBrowse link
G Nefm neurofilament medium ISO RGD PMID:16006557 RGD:9698444 NCBI chrNW_004936757:1,662,905...1,668,707 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 chrNW_004936516:1,508,800...1,666,841 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2 like 2 treatment ISO mRNA, protein:decreased expression:primary motor cortex, spinal cord (human) RGD PMID:18957896 PMID:22056419 RGD:10412690 RGD:6893397 NCBI chrNW_004936509:6,589,967...6,621,171 JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:spinal cord (mouse) RGD PMID:21867702 RGD:5509065 NCBI chrNW_004936538:4,052,277...4,097,051 JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chrNW_004936669:1,292,016...1,334,061 JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chrNW_004936623:2,422,780...2,436,817 JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chrNW_004936677:2,762,971...2,766,038 JBrowse link
G Pgf placental growth factor ISO RGD PMID:22119626 RGD:6483573 NCBI chrNW_004936488:4,098,187...4,111,108 JBrowse link
G Pla2g4a phospholipase A2 group IVA ISO CTD Direct Evidence: marker/mechanism CTD PMID:15816863 NCBI chrNW_004936481:3,559,377...3,689,797 JBrowse link
G Pnpla6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chrNW_004936588:4,608,856...4,632,198 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 chrNW_004936585:4,954,871...4,979,560 JBrowse link
G Pon2 paraoxonase 2 ISO DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2 RGD PMID:16822964 RGD:5509925 NCBI chrNW_004936585:4,862,378...4,894,061 JBrowse link
G Pon3 paraoxonase 3 ISO DNA:SNP:intron:rs10487132, association with LD block containing both PON3 and PON2
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
RGD
ClinVar
PMID:16822964 PMID:25741868 PMID:28492532 RGD:5509925 NCBI chrNW_004936585:4,902,430...4,928,377 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse)
mRNA:decreased expression:motor cortex, muscle (human)
human gene in mouse model
RGD PMID:22102466 PMID:23147503 RGD:6484265 RGD:7242019 NCBI chrNW_004936477:4,881,230...5,488,208 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 chrNW_004936664:2,910,609...2,914,205 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 chrNW_004936512:7,046,275...7,050,958 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:spinal cord, neuron, glia
CTD
RGD
PMID:11220737 PMID:14511332 PMID:15816863 RGD:5688235 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Ptprz1 protein tyrosine phosphatase receptor type Z1 treatment ISO RGD PMID:25113670 RGD:9590123 NCBI chrNW_004936605:3,195,893...3,368,102 JBrowse link
G Rara retinoic acid receptor alpha ISO RGD PMID:17956549 RGD:2314289 NCBI chrNW_004936490:15,376,217...15,420,638 JBrowse link
G Sarm1 sterile alpha and TIR motif containing 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chrNW_004936538:4,526,713...4,546,861 JBrowse link
G Scfd1 sec1 family domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868 PMID:27455348 NCBI chrNW_004936494:5,410,219...5,501,687 JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:12067231 RGD:8554892 NCBI chrNW_004936538:7,885,816...7,898,308 JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936487:18,858,384...18,945,253 JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24885036 NCBI chrNW_004936524:2,717,885...2,720,874 JBrowse link
G Sirt1 sirtuin 1 ISO protein:increased expression:spinal cord (mouse) RGD PMID:17581637 RGD:2290573 NCBI chrNW_004936521:10,296,097...10,316,673 JBrowse link
G Slc11a2 solute carrier family 11 member 2 onset ISO DNA:SNP: :rs407135 (human) RGD PMID:21276595 RGD:5688710 NCBI chrNW_004936512:8,590,302...8,622,121 JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO mRNA:processing errors:spinal cord, motor cortex (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9539131 PMID:11723166 RGD:1302517 NCBI chrNW_004936533:2,779,650...2,918,640 JBrowse link
G Slc31a1 solute carrier family 31 member 1 disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chrNW_004936559:333,461...364,737 JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20132478 NCBI chrNW_004936602:2,359,151...2,397,346 JBrowse link
G Sod1 superoxide dismutase 1 treatment ISO protein:increased expression:cerebrospinal fluid (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
human gene in a rat model;DNA:missense mutation:cds:p.G93A (human)
RGD
ClinVar
CTD
PMID:7887412 PMID:9065559 PMID:10025816 PMID:10930589 PMID:11220737 PMID:11590119 PMID:11723166 PMID:12586733 PMID:12626432 PMID:16495328 PMID:17097207 PMID:17319283 PMID:17496168 PMID:18233996 PMID:18947433 PMID:19635794 PMID:19929749 PMID:20132483 PMID:20177826 PMID:20348957 PMID:20515040 PMID:21867702 PMID:23147550 PMID:23583883 PMID:24885036 PMID:25164820 PMID:25741868 PMID:26826269 PMID:30503815 RGD:13524551 RGD:2312367 RGD:8655880 NCBI chrNW_004936500:10,345,154...10,352,873 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8866423 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:18337587 PMID:22696581 PMID:23733235 PMID:24833714 PMID:25588603 PMID:25741868 PMID:26467025 PMID:27884173 PMID:27904835 PMID:28130640 PMID:28492532 NCBI chrNW_004936471:7,540,647...7,618,783 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
RGD
PMID:19765191 PMID:23851366 PMID:25741868 PMID:28492532 RGD:11561951 NCBI chrNW_004936739:943,080...955,296 JBrowse link
G Ss18l1 SS18L1 subunit of BAF chromatin remodeling complex ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chrNW_004936514:9,820,449...9,839,341 JBrowse link
G Steap2 STEAP2 metalloreductase disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chrNW_004936621:3,784,628...3,806,787 JBrowse link
G Tardbp TAR DNA binding protein disease_progression ISO DNA:missense mutations:cds:
DNA:mutation:cds:p.M337V(human)
DNA:mutation:cds:p.G295S(human)
protein:increased phosphorylation:brain
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17023659 PMID:18309045 PMID:18372902 PMID:21167262 PMID:21651514 PMID:21752789 PMID:21998667 PMID:22879928 PMID:23104007 PMID:24019256 PMID:24252504 RGD:5687134 RGD:5687137 RGD:5687157 RGD:5687158 RGD:5687173 RGD:5687192 NCBI chrNW_004936474:90,813...103,713 JBrowse link
G Tfam transcription factor A, mitochondrial severity ISO RGD PMID:22354563 RGD:6767572 NCBI chrNW_004936614:4,595,973...4,605,040 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:spinal cord RGD PMID:13678668 RGD:12904653 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tnfrsf21 TNF receptor superfamily member 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24113175 NCBI chrNW_004936476:13,125,269...13,194,205 JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chrNW_004936647:3,914,887...3,959,698 JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17434459 NCBI chrNW_004936595:919,807...935,367 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 chrNW_004936471:12,564,617...12,666,229 JBrowse link
G Tubb4a tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:30311386 NCBI chrNW_004936588:3,821,171...3,826,827 JBrowse link
G Txnrd1 thioredoxin reductase 1 susceptibility ISO DNA:SNPs:intron:rs6539137, rs4630362 (human) RGD PMID:18996185 RGD:5685032 NCBI chrNW_004936492:10,185,096...10,244,466 JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis RGD
ClinVar
PMID:21857683 PMID:25333069 PMID:25616961 PMID:25741868 PMID:26075709 PMID:28492532 RGD:5147832 NCBI chrNW_004936819:530,833...534,185 JBrowse link
G Unc13a unc-13 homolog A no_association ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
DNA:SNP:intron:rs12608932 (human)
CTD
ClinVar
RGD
PMID:19734901 PMID:20385924 PMID:25741868 RGD:5686382 RGD:5686384 NCBI chrNW_004936596:3,311,358...3,370,833 JBrowse link
G Vapb VAMP associated protein B and C ISO DNA:missense mutation:cds:p.P56S (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, typical
RGD
ClinVar
PMID:15372378 PMID:16187141 PMID:16967488 PMID:17804640 PMID:18322265 PMID:18677189 PMID:19183264 PMID:20008544 PMID:20377183 PMID:20447143 PMID:20577002 PMID:21275991 PMID:21685205 PMID:21933185 PMID:22131369 PMID:22258555 PMID:22454507 PMID:23333387 PMID:23446633 PMID:23771029 PMID:24212516 PMID:24681403 PMID:26467025 PMID:26566915 PMID:27978769 PMID:28492532 RGD:5688230 NCBI chrNW_004936530:985,488...1,030,270 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 chrNW_004936524:3,085,959...3,102,461 JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP:intron:rs7975232(human) RGD PMID:26190642 RGD:11560790 NCBI chrNW_004936512:5,741,836...5,800,999 JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16410746 RGD:1580568 NCBI chrNW_004936476:16,245,134...16,261,180 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 chrNW_004936485:18,654,046...18,707,324 JBrowse link
G Bsg basigin (Ok blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936588:181,688...189,795 JBrowse link
G Calb2 calbindin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936475:22,344,416...22,372,015 JBrowse link
G Cd68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936595:858,289...861,131 JBrowse link
G Cd7 CD7 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936594:5,777,361...5,783,533 JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936675:499,745...513,515 JBrowse link
G Cntf ciliary neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11951178 NCBI chrNW_004936581:3,710,171...3,715,753 JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936694:552,447...663,237 JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936816:680,798...690,959 JBrowse link
G Dbx1 developing brain homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936654:1,139,500...1,143,477 JBrowse link
G Dctn1 dynactin subunit 1 ISO OMIM NCBI chrNW_004936556:601,550...632,321 JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004936524:3,103,912...3,110,246 JBrowse link
G Fgf6 fibroblast growth factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936606:4,613,052...4,624,587 JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chrNW_004936564:5,736,908...5,842,210 JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936488:4,384,710...4,388,118 JBrowse link
G Fus FUS RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chrNW_004936501:13,529,732...13,541,102 JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936515:1,806,721...1,859,227 JBrowse link
G Gbx2 gastrulation brain homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936525:1,870,211...1,873,536 JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936809:1,188,793...1,194,816 JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936541:1,265,915...1,275,232 JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15264227 NCBI chrNW_004936479:7,050,018...7,323,047 JBrowse link
G Gsx2 GS homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936482:16,703,936...16,706,224 JBrowse link
G Hsf1 heat shock transcription factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24256636 NCBI chrNW_004936470:7,927,734...7,950,805 JBrowse link
G Ina internexin neuronal intermediate filament protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936600:2,747,649...2,760,517 JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936596:3,212,593...3,224,426 JBrowse link
G Kif3c kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936493:6,396,606...6,435,266 JBrowse link
G Kif5a kinesin family member 5A ISO mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) RGD PMID:23006449 RGD:12798528 NCBI chrNW_004936646:1,697,531...1,730,376 JBrowse link
G Kif5c kinesin family member 5C ISO mRNA:increased expression:frontal cortex, cerebellum (mouse) RGD PMID:23006449 RGD:12798528 NCBI chrNW_004936469:28,282,921...28,431,638 JBrowse link
G Lat linker for activation of T cells ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936501:11,759,245...11,764,693 JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936659:1,259,405...1,300,545 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 chrNW_004936474:100,584...113,781 JBrowse link
G Nefh neurofilament heavy ISO OMIM NCBI chrNW_004936657:3,443,406...3,453,096 JBrowse link
G Otog otogelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936528:1,473,842...1,549,586 JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936754:808,894...828,554 JBrowse link
G Penk proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936496:3,016,247...3,021,726 JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17204329 NCBI chrNW_004936585:4,954,871...4,979,560 JBrowse link
G Prph peripherin ISO OMIM NCBI chrNW_004936512:7,046,275...7,050,958 JBrowse link
G Rxra retinoid X receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936669:2,735,111...2,763,060 JBrowse link
G Selplg selectin P ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936769:531,224...540,429 JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chrNW_004936487:18,858,384...18,945,253 JBrowse link
G Shc1 SHC adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936580:4,511,560...4,522,003 JBrowse link
G Six2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936508:7,047,563...7,051,129 JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936514:4,456,498...4,462,436 JBrowse link
G Sod1 superoxide dismutase 1 ISO OMIM NCBI chrNW_004936500:10,345,154...10,352,873 JBrowse link
G Tardbp TAR DNA binding protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
CTD
ClinVar
PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 PMID:24033266 PMID:24477737 PMID:26467025 PMID:28492532 NCBI chrNW_004936474:90,813...103,713 JBrowse link
G Tiam1 TIAM Rac1 associated GEF 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936500:10,451,599...10,812,239 JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936471:29,682,313...29,730,229 JBrowse link
G Tmsb4x thymosin beta 4 X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936470:2,668,525...2,670,611 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936819:530,833...534,185 JBrowse link
G Vapb VAMP associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chrNW_004936530:985,488...1,030,270 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 chrNW_004936524:3,085,959...3,102,461 JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936520:10,051,692...10,059,324 JBrowse link
G Wnt7a Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936898:45,903...70,313 JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chrNW_004936479:6,677,533...6,724,800 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 chrNW_004936474:100,584...113,781 JBrowse link
G Tardbp TAR DNA binding protein ISO OMIM NCBI chrNW_004936474:90,813...103,713 JBrowse link
amyotrophic lateral sclerosis type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO OMIM NCBI chrNW_004936564:5,736,908...5,842,210 JBrowse link
amyotrophic lateral sclerosis type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101956249 optineurin ISO OMIM NCBI chrNW_004936862:488,591...516,819 JBrowse link
amyotrophic lateral sclerosis type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin containing protein ISO OMIM NCBI chrNW_004936524:3,085,959...3,102,461 JBrowse link
amyotrophic lateral sclerosis type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubqln2 ubiquilin 2 ISO OMIM NCBI chrNW_004936819:530,833...534,185 JBrowse link
amyotrophic lateral sclerosis type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO OMIM NCBI chrNW_004936524:2,717,885...2,720,874 JBrowse link
amyotrophic lateral sclerosis type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO OMIM NCBI chrNW_004936610:2,282,925...2,320,554 JBrowse link
amyotrophic lateral sclerosis type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pfn1 profilin 1 ISO OMIM NCBI chrNW_004936677:2,762,971...2,766,038 JBrowse link
amyotrophic lateral sclerosis type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO OMIM NCBI chrNW_004936586:4,065,767...5,100,690 JBrowse link
amyotrophic lateral sclerosis type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO OMIM NCBI chrNW_004936512:11,481,017...11,487,737 JBrowse link
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matr3 matrin 3 ISO OMIM NCBI chrNW_004936531:8,385,919...8,418,753 JBrowse link
amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba4a tubulin alpha 4a ISO OMIM NCBI chrNW_004936569:1,668,265...1,672,532 JBrowse link
amyotrophic lateral sclerosis type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa11 annexin A11 ISO OMIM NCBI chrNW_004936521:231,294...275,138 JBrowse link
Amyotrophic Lateral Sclerosis Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek1 NIMA related kinase 1 susceptibility ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 OMIM
ClinVar
PMID:21211617 PMID:22499340 PMID:23757202 PMID:24033266 PMID:25741868 PMID:26945885 PMID:27455347 PMID:28089114 PMID:28123176 PMID:28492532 PMID:29068549 NCBI chrNW_004936516:1,508,800...1,666,841 JBrowse link
Amyotrophic Lateral Sclerosis Type 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 OMIM
ClinVar
PMID:29342275 PMID:29566793 NCBI chrNW_004936646:1,697,531...1,730,376 JBrowse link
amyotrophic lateral sclerosis type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fus FUS RNA binding protein ISO OMIM NCBI chrNW_004936501:13,529,732...13,541,102 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 chrNW_004936530:1,045,340...1,159,638 JBrowse link
G Atp5f1e ATP synthase F1 subunit epsilon ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chrNW_004936530:1,509,605...1,513,033 JBrowse link
G Ctsz cathepsin Z ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chrNW_004936530:1,482,007...1,490,685 JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chrNW_004936530:1,744,216...1,766,602 JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chrNW_004936530:1,353,432...1,407,437 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 chrNW_004936530:1,474,097...1,481,943 JBrowse link
G Npepl1 aminopeptidase like 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chrNW_004936530:1,231,033...1,247,961 JBrowse link
G Prelid3b PRELI domain containing 3B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chrNW_004936530:1,513,616...1,522,652 JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chrNW_004936530:1,196,088...1,220,935 JBrowse link
G Tubb1 tubulin beta 1 class VI ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chrNW_004936530:1,500,415...1,506,187 JBrowse link
G Vapb VAMP associated protein B and C ISO OMIM NCBI chrNW_004936530:985,488...1,030,270 JBrowse link
G Znf831 zinc finger protein 831 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chrNW_004936530:1,642,670...1,646,785 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 OMIM NCBI chrNW_004936880:39,372...40,070 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 chrNW_004936726:940,696...1,015,771 JBrowse link
G LOC101956249 optineurin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar NCBI chrNW_004936862:488,591...516,819 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 chrNW_004936623:2,422,780...2,436,817 JBrowse link
G Trpm7 transient receptor potential cation channel subfamily M member 7 susceptibility
no_association
ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:cds: p.T1482I (human)
OMIM
CTD
RGD
PMID:16051700 PMID:19405049 RGD:5685005 RGD:5685008 NCBI chrNW_004936471:12,564,617...12,666,229 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 chrNW_004936631:3,721,307...3,785,346 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 chrNW_004936783:1,251,678...1,256,807 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 chrNW_004936488:6,247,329...6,277,494 JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD
ClinVar
PMID:25741868 NCBI chrNW_004936483:16,007,448...16,031,353 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 chrNW_004936625:3,552,611...3,688,281 JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16826520 PMID:16826531 NCBI chrNW_004936525:4,550,987...4,556,574 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 chrNW_004936525:4,599,840...4,608,469 JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chrNW_004936728:706,499...843,447 JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:30311386 NCBI chrNW_004936494:3,738,419...3,740,419 JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868 PMID:30311386 NCBI chrNW_004936623:4,091,093...4,222,510 JBrowse link
G LOC101974020 myosin-3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 NCBI chrNW_004936595:3,484,323...3,507,227 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 chrNW_004936595:3,278,829...3,307,134 JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:31260566 NCBI chrNW_004936528:1,407,187...1,409,683 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 chrNW_004936626:802,415...1,141,260 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 chrNW_004936801:1,185,615...1,298,416 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 chrNW_004936504:5,763,929...5,817,309 JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO DNA:mutation:splice junction: RGD PMID:19542096 RGD:13209012 NCBI chrNW_004936489:4,903,176...5,177,987 JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita
RGD
ClinVar
PMID:12592607 PMID:25741868 RGD:1599481 NCBI chrNW_004936816:738,754...741,328 JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936816:805,360...822,044 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 chrNW_004936524:3,679,719...3,687,828 JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chrNW_004936483:16,007,448...16,031,353 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 chrNW_004936801:1,185,615...1,298,416 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 chrNW_004936489:4,616,839...4,887,179 JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO OMIM NCBI chrNW_004936489:4,903,176...5,177,987 JBrowse link
Arthrogryposis Multiplex Congenita 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1 member A ISO OMIM NCBI chrNW_004936487:17,012,661...17,020,657 JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO OMIM NCBI chrNW_004936520:1,987,989...2,146,473 JBrowse link
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc35a3 solute carrier family 35 member A3 ISO OMIM NCBI chrNW_004936748:158,290...200,458 JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA related kinase 9 ISO OMIM NCBI chrNW_004936488:4,221,099...4,261,401 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 chrNW_004936488:6,247,329...6,277,494 JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO OMIM NCBI chrNW_004936483:16,007,448...16,031,353 JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO OMIM NCBI chrNW_004936488:6,247,329...6,277,494 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 chrNW_004936623:4,091,093...4,222,510 JBrowse link
G Vapb VAMP associated protein B and C ISO OMIM NCBI chrNW_004936530:985,488...1,030,270 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 chrNW_004936528:1,407,187...1,409,683 JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO OMIM NCBI chrNW_004936665:1,520,800...1,654,388 JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:28492532 NCBI chrNW_004936665:1,654,045...1,690,955 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 chrNW_004936487:2,287,736...2,335,674 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 chrNW_004936835:225,879...290,160 JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chrNW_004936564:5,736,908...5,842,210 JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:17101916 PMID:22462675 PMID:25168514 NCBI chrNW_004936478:6,848,448...6,889,103 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 chrNW_004936599:1,406,815...1,439,764 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 chrNW_004936580:5,374,208...5,395,442 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 chrNW_004936755:133,315...171,507 JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chrNW_004936757:1,642,122...1,646,499 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 chrNW_004936487:18,858,384...18,945,253 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 chrNW_004936769:1,424,526...1,447,547 JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO OMIM NCBI chrNW_004936580:5,374,208...5,395,442 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 chrNW_004936489:4,616,839...4,887,179 JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO OMIM NCBI chrNW_004936489:4,903,176...5,177,987 JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO OMIM NCBI chrNW_004936495:7,658,250...7,949,417 JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO OMIM NCBI chrNW_004936602:104,424...113,692 JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101972165 myosin-7 ISO OMIM NCBI chrNW_004936722:967,443...991,530 JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO OMIM NCBI chrNW_004936797:332,962...377,397 JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnpo3 transportin 3 ISO OMIM NCBI chrNW_004936579:6,047,900...6,134,211 JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D like ISO OMIM NCBI chrNW_004936738:2,063,109...2,068,099 JBrowse link
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO OMIM NCBI chrNW_004936471:5,667,839...5,711,822 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 chrNW_004936483:15,096,215...15,179,856 JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO OMIM NCBI chrNW_004936483:15,178,947...15,196,277 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 chrNW_004936600:4,691,112...4,696,523 JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a4 solute carrier family 25 member 4 ISO OMIM NCBI chrNW_004936554:4,130,461...4,135,046 JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO OMIM NCBI chrNW_004936600:4,691,112...4,696,523 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 chrNW_004936541:4,959,838...4,972,543 JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO OMIM NCBI chrNW_004936541:4,988,469...5,004,110 JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO OMIM NCBI chrNW_004936470:41,354,387...41,401,308 JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dna2 DNA replication helicase/nuclease 2 ISO OMIM NCBI chrNW_004936521:9,843,867...9,884,248 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive centronuclear myopathy
ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive
CTD
ClinVar
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 chrNW_004936469:44,128,308...44,185,739 JBrowse link
G Speg striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936569:1,821,125...1,877,006 JBrowse link
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO OMIM NCBI chrNW_004936580:5,374,208...5,395,442 JBrowse link
autosomal recessive hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101972165 myosin-7 ISO OMIM NCBI chrNW_004936722:967,443...991,530 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 chrNW_004936654:2,891,019...2,976,465 JBrowse link
G Astn2 astrotactin 2 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chrNW_004936487:5,409,413...5,854,418 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 chrNW_004936471:5,667,839...5,711,822 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 chrNW_004936602:4,264,896...4,278,160 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 chrNW_004936491:15,412,606...15,618,519 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 chrNW_004936664:577,109...586,848 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 chrNW_004936580:5,374,208...5,395,442 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 chrNW_004936474:27,229,262...27,239,034 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 chrNW_004936487:18,249,472...18,267,875 JBrowse link
G Pomt2 protein O-mannosyltransferase 2 ISO DNA:missense mutation:exon:p.T184M, (c.551C>T) (human)
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
RGD
ClinVar
PMID:17923109 RGD:11532762 NCBI chrNW_004936488:6,102,612...6,141,842 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 chrNW_004936688:1,987,075...2,079,148 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 chrNW_004936490:11,470,155...11,482,377 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 chrNW_004936482:15,150,805...15,163,340 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 chrNW_004936515:6,278,631...6,908,193 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 chrNW_004936688:2,083,930...2,191,206 JBrowse link
G Trim32 tripartite motif containing 32 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chrNW_004936487:5,606,690...5,619,856 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 chrNW_004936474:27,221,691...27,227,226 JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:22335739 PMID:22526018 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24503780 PMID:24892279 PMID:25163546 PMID:25589632 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28822653 NCBI chrNW_004936509:7,733,426...7,999,503 JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama2 laminin subunit alpha 2 ISO OMIM NCBI chrNW_004936639:259,662...825,170 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 chrNW_004936554:5,424,964...5,468,633 JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO OMIM NCBI chrNW_004936695:2,117,506...2,141,859 JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Popdc3 popeye domain containing 3 ISO OMIM NCBI chrNW_004936564:1,840,270...1,860,894 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO OMIM NCBI chrNW_004936471:5,667,839...5,711,822 JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A ClinVar PMID:25326637 PMID:25741868 NCBI chrNW_004936473:21,324,669...21,409,430 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 chrNW_004936471:5,667,839...5,711,822 JBrowse link
G Dysf dysferlin ISO OMIM NCBI chrNW_004936491:15,412,606...15,618,519 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 chrNW_004936580:5,374,208...5,395,442 JBrowse link
G LOC101972165 myosin-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 chrNW_004936722:967,443...991,530 JBrowse link
G Vdr vitamin D receptor ISO protein:increased expression:muscle: RGD PMID:27558075 RGD:13210781 NCBI chrNW_004936512:5,741,836...5,800,999 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: Severe autosomal recessive muscular dystrophy of childhood - North African type
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C
ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936688:1,987,075...2,079,148 JBrowse link
G Sgcg sarcoglycan gamma ISO OMIM NCBI chrNW_004936688:2,083,930...2,191,206 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 chrNW_004936529:1,099,510...1,171,587 JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 NCBI chrNW_004936688:1,987,075...2,079,148 JBrowse link
G Sgca sarcoglycan alpha treatment ISO OMIM
RGD
PMID:17653106 RGD:13605612 NCBI chrNW_004936490:11,470,155...11,482,377 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 chrNW_004936688:2,083,930...2,191,206 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 chrNW_004936512:6,959,656...6,964,299 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgcb sarcoglycan beta treatment ISO OMIM
RGD
PMID:28284983 RGD:13605613 NCBI chrNW_004936482:15,150,805...15,163,340 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 OMIM NCBI chrNW_004936515:6,278,631...6,908,193 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcap titin-cap ISO OMIM NCBI chrNW_004936490:14,856,433...14,857,692 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 chrNW_004936487:5,409,413...5,854,418 JBrowse link
G Trim32 tripartite motif containing 32 ISO OMIM NCBI chrNW_004936487:5,606,690...5,619,856 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkrp fukutin related protein treatment ISO OMIM
RGD
PMID:25048216 RGD:11667961 NCBI chrNW_004936664:577,109...586,848 JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED ClinVar PMID:25741868 NCBI chrNW_004936664:553,682...574,240 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttn titin ISO OMIM NCBI chrNW_004936509:7,733,426...7,999,503 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chrNW_004936487:17,690,206...17,819,619 JBrowse link
G Aif1l allograft inflammatory factor 1 like ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chrNW_004936487:17,961,922...17,979,721 JBrowse link
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chrNW_004936487:17,675,401...17,686,224 JBrowse link
G Fam78a family with sequence similarity 78 member A ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chrNW_004936487:18,086,085...18,096,656 JBrowse link
G Fibcd1 fibrinogen C domain containing 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chrNW_004936487:17,830,895...17,861,952 JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED ClinVar PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532 PMID:30311386 NCBI chrNW_004936664:577,109...586,848 JBrowse link
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chrNW_004936487:17,910,673...17,958,641 JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chrNW_004936487:17,981,402...18,067,828 JBrowse link
G Plpp7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chrNW_004936487:18,106,836...18,121,586 JBrowse link
G Pomt1 protein O-mannosyltransferase 1 ISO OMIM NCBI chrNW_004936487:18,249,472...18,267,875 JBrowse link
G Prdm12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chrNW_004936487:17,656,311...17,670,074 JBrowse link
G Prrc2b proline rich coiled-coil 2B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chrNW_004936487:18,196,673...18,247,725 JBrowse link
G Qrfp pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chrNW_004936487:17,824,474...17,826,867 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO OMIM NCBI chrNW_004936654:2,891,019...2,976,465 JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L ClinVar PMID:16835936 PMID:19006240 PMID:25326637 PMID:25525159 PMID:25741868 PMID:26038974 PMID:28492532 NCBI chrNW_004936504:1,535,629...1,757,386 JBrowse link
G Fktn fukutin ISO DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human) RGD PMID:17044012 RGD:11576328 NCBI chrNW_004936559:6,612,318...6,680,690 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO OMIM NCBI chrNW_004936559:6,612,318...6,680,690 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14 ClinVar PMID:18487244 PMID:21301859 PMID:21880868 PMID:22000311 PMID:22114710 PMID:22357363 PMID:24033266 PMID:24508722 PMID:25203713 PMID:25741868 PMID:26095671 PMID:27854218 PMID:27987238 PMID:28337550 PMID:28492532 NCBI chrNW_004936483:15,178,947...15,196,277 JBrowse link
G Pomt2 protein O-mannosyltransferase 2 ISO OMIM NCBI chrNW_004936488:6,102,612...6,141,842 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO OMIM NCBI chrNW_004936474:27,229,262...27,239,034 JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
ClinVar PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:30311386 PMID:30937090 PMID:30961548 NCBI chrNW_004936474:27,221,691...27,227,226 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chrNW_004936529:1,049,364...1,054,458 JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chrNW_004936529:857,932...862,976 JBrowse link
G CUNH3orf62 chromosome unknown C3orf62 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chrNW_004936529:934,641...940,858 JBrowse link
G CUNH3orf84 chromosome unknown C3orf84 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chrNW_004936529:872,150...884,123 JBrowse link
G Dag1 dystroglycan 1 ISO OMIM NCBI chrNW_004936529:1,099,510...1,171,587 JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chrNW_004936529:997,943...999,123 JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chrNW_004936529:905,692...929,896 JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chrNW_004936529:863,052...872,067 JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chrNW_004936529:826,178...841,304 JBrowse link
G Nicn1 nicolin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chrNW_004936529:1,054,568...1,059,575 JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chrNW_004936529:1,000,050...1,045,655 JBrowse link
G Tcta T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chrNW_004936529:1,045,735...1,047,922 JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chrNW_004936529:941,042...989,781 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101957084 plectin ISO OMIM NCBI chrNW_004936470:8,194,124...8,252,139 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc11 trafficking protein particle complex 11 ISO OMIM NCBI chrNW_004936554:5,424,964...5,468,633 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO OMIM NCBI chrNW_004936529:1,336,002...1,338,615 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crppa CDP-L-ribitol pyrophosphorylase A ISO OMIM NCBI chrNW_004936546:2,658,195...2,945,542 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W ClinVar PMID:28492532 NCBI chrNW_004936469:43,652,244...43,656,661 JBrowse link
G Lims2 LIM zinc finger domain containing 2 ISO OMIM NCBI chrNW_004936469:43,628,280...43,665,145 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bves blood vessel epicardial substance ISO OMIM NCBI chrNW_004936564:1,791,733...1,823,421 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Y term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC106144612 torsin-1A-interacting protein 2 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y ClinVar PMID:24856141 PMID:25193337 NCBI chrNW_004936481:9,266,527...9,280,289 JBrowse link
G Tor1aip1 torsin 1A interacting protein 1 ISO OMIM NCBI chrNW_004936481:9,234,379...9,261,961 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Z term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poglut1 protein O-glucosyltransferase 1 ISO OMIM NCBI chrNW_004936536:6,408,066...6,427,864 JBrowse link
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chrNW_004936483:15,096,215...15,179,856 JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO OMIM NCBI chrNW_004936483:15,178,947...15,196,277 JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh1 ribonuclease H1 ISO OMIM NCBI chrNW_004936532:1,700,414...1,714,689 JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tk2 thymidine kinase 2 ISO OMIM NCBI chrNW_004936475:16,851,380...16,875,195 JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO OMIM NCBI chrNW_004936556:226,643...263,517 JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top3a DNA topoisomerase III alpha ISO OMIM NCBI chrNW_004936741:1,809,371...1,838,711 JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chrNW_004936533:5,952,529...5,980,889 JBrowse link
G Pitx2 paired like homeodomain 2 ISO OMIM NCBI chrNW_004936563:1,713,294...1,732,431 JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chrNW_004936662:388,279...524,803 JBrowse link
Axial Myopathy, Late-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Axial myopathy, late-onset ClinVar PMID:24033266 PMID:28492532 NCBI chrNW_004936801:1,185,615...1,298,416 JBrowse link
Becker muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO OMIM NCBI chrNW_004936553:7,157,526...7,943,703 JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 NCBI chrNW_004936607:3,458,406...3,530,066 JBrowse link
G Snta1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:25741868 NCBI chrNW_004936561:7,101,654...7,134,529 JBrowse link
Benign Pseudohypertrophic Muscular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:7881286 PMID:17259292 PMID:19937601 PMID:23757202 PMID:24033266 PMID:25447171 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936553:7,157,526...7,943,703 JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 NCBI chrNW_004936607:3,458,406...3,530,066 JBrowse link
G Snta1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:25741868 NCBI chrNW_004936561:7,101,654...7,134,529 JBrowse link
Bethlem myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936788:533,811...645,821 JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
CTD
ClinVar
PMID:11865138 PMID:15689448 PMID:16130093 PMID:18414213 PMID:18852439 PMID:19949035 PMID:20302629 PMID:20981092 PMID:22426012 PMID:23040494 PMID:23564457 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:30311386 PMID:30564623 NCBI chrNW_004936778:515,600...530,828 JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Bethlem myopathy
CTD
ClinVar
PMID:12840783 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19309692 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:22992134 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24314752 PMID:24801232 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:29419890 PMID:30564623 NCBI chrNW_004936778:394,985...430,070 JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
CTD
ClinVar
PMID:15563506 PMID:15689448 PMID:16935502 PMID:17785673 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:20976770 PMID:20981092 PMID:22995991 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25214167 PMID:25224718 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26467025 PMID:26872670 PMID:27854218 PMID:28492532 PMID:28688748 PMID:29970176 PMID:30487145 PMID:30564623 NCBI chrNW_004936525:905,419...983,486 JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936778:375,800...390,764 JBrowse link
Bethlem Myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936525:1,559,575...1,570,679 JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 NCBI chrNW_004936721:1,552,312...1,602,360 JBrowse link
G Col6a1 collagen type VI alpha 1 chain susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human) OMIM
RGD
PMID:8782832 RGD:1600934 NCBI chrNW_004936778:515,600...530,828 JBrowse link
G Col6a2 collagen type VI alpha 2 chain susceptibility ISO Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human) OMIM
RGD
PMID:8782832 RGD:1600934 NCBI chrNW_004936778:394,985...430,070 JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO OMIM NCBI chrNW_004936525:905,419...983,486 JBrowse link
G Cops8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chrNW_004936525:1,168,995...1,180,763 JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936778:375,800...390,764 JBrowse link
Bethlem Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO OMIM NCBI chrNW_004936788:533,811...645,821 JBrowse link
Bone Fragility with Contractures, Arterial Rupture, and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 ISO OMIM NCBI chrNW_004936543:1,090,268...1,097,170 JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101963041 histone H3.3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chrNW_004936526:2,835,002...2,842,328 JBrowse link
Brody myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO OMIM NCBI chrNW_004936501:11,818,301...11,836,221 JBrowse link
G Atxn2l ataxin 2 like ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chrNW_004936501:11,865,796...11,875,215 JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar NCBI chrNW_004936501:11,807,369...11,818,350 JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chrNW_004936501:11,840,227...11,849,742 JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chrNW_004936501:11,859,558...11,863,689 JBrowse link
Brown-Vialetto-Van Laere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a2 solute carrier family 52 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936470:7,886,169...7,888,592 JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936485:17,771,797...17,777,637 JBrowse link
Brown-Vialetto-Van Laere syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004936470:7,886,169...7,888,592 JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO OMIM NCBI chrNW_004936485:17,771,797...17,777,637 JBrowse link
Brown-Vialetto-Van Laere syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adck5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,857,284...7,870,180 JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,950,952...7,977,186 JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,848,846...7,857,291 JBrowse link
G Cyhr1 cysteine and histidine rich 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,799,304...7,813,420 JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,916,438...7,926,089 JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,097,218...8,099,319 JBrowse link
G Fbxl6 F-box and leucine rich repeat protein 6 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,888,676...7,891,796 JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,789,486...7,791,067 JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,092,758...8,096,277 JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,180,468...8,183,694 JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,058,775...8,061,025 JBrowse link
G Hsf1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,927,734...7,950,805 JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,791,137...7,800,221 JBrowse link
G LOC101954680 cytochrome c1, heme protein, mitochondrial ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,082,791...8,085,197 JBrowse link
G LOC101957084 plectin ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,194,124...8,252,139 JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,073,228...8,076,338 JBrowse link
G Mroh1 maestro heat like repeat family member 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,977,338...8,049,414 JBrowse link
G Oplah 5-oxoprolinase, ATP-hydrolysing ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,126,677...8,139,556 JBrowse link
G Parp10 poly(ADP-ribose) polymerase family member 10 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:8,179,416...8,194,041 JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,907,294...7,913,136 JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936470:7,966,096...7,972,379 JBrowse link
G Sharpin SHANK associated RH domain interactor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW