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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


show annotations for term's descendants           Sort by:
 
neuromuscular disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:1537368 PMID:6243664 PMID:11159947 PMID:12752575 PMID:16098009 PMID:18628786 PMID:25741868 PMID:26622478 PMID:30311386 NCBI chr12:35,432,834...35,446,969
Ensembl chr12:36,214,444...36,227,886
JBrowse link
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Neuromuscular Diseases ClinVar PMID:12921789 PMID:15226407 PMID:17227580 PMID:19562689 PMID:24033266 PMID:25470062 PMID:25525159 PMID:28492532 NCBI chr 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469
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 chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Neuromuscular Diseases ClinVar PMID:1178008 PMID:1998333 PMID:7294729 PMID:8595407 PMID:10382909 PMID:10428430 PMID:18646565 PMID:24033266 NCBI chr  X:143,792,178...143,794,530 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 chr 3:81,587,604...81,861,214
Ensembl chr 3:83,632,215...83,904,546
JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:28492532 PMID:30311386 NCBI chr  X:60,490,579...60,492,606
Ensembl chr  X:70,547,110...70,547,961
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 chr19:31,301,469...31,355,362
Ensembl chr19:40,024,584...40,080,598
JBrowse link
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:9829280 PMID:20207543 PMID:24611677 PMID:25214167 PMID:25525159 PMID:28492532 PMID:30311386 NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337
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 chr10:83,095,625...83,164,297
Ensembl chr10:86,654,737...86,722,148
Ensembl chr10:86,654,737...86,722,148
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Neuromuscular disease ClinVar PMID:15678000 PMID:17377071 PMID:18585512 PMID:18926329 PMID:19446900 PMID:24033266 PMID:24503780 PMID:24915601 PMID:27506821 PMID:28492532 PMID:28679633 PMID:28798025 PMID:30311386 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:7527371 PMID:9187667 PMID:9633821 PMID:10093067 PMID:10965800 PMID:11437164 PMID:11835375 PMID:12497641 PMID:12707985 PMID:18347322 PMID:18422810 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273
JBrowse link
G PLP1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:30311386 NCBI chr  X:93,015,098...93,031,193
Ensembl chr  X:103,353,184...103,412,513
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 chr17:36,389,549...36,425,161
Ensembl chr17:41,038,302...41,073,872
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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 chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:30311386 NCBI chr  X:93,060,899...93,070,911
Ensembl chr  X:103,444,776...103,445,381
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Neuromuscular disease
ClinVar Annotator: match by term: Neuromuscular disorder
ClinVar Annotator: match by term: Neuromuscular Diseases
ClinVar PMID:16084090 PMID:17033962 PMID:17483490 PMID:18253926 PMID:18414213 PMID:19191329 PMID:19645060 PMID:20080402 PMID:20583297 PMID:20839240 PMID:21062345 PMID:21455645 PMID:21911697 PMID:22473935 PMID:23394784 PMID:23553484 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24091937 PMID:24195946 PMID:24627108 PMID:24951453 PMID:25476234 PMID:25637381 PMID:25741868 PMID:26633545 PMID:27854218 PMID:28492532 PMID:28818389 PMID:30311386 PMID:31680349 NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
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 chr17:44,255,807...44,266,182
Ensembl chr17:49,130,332...49,141,188
JBrowse link
G SGCD sarcoglycan delta ISO ClinVar Annotator: match by term: Neuromuscular Diseases ClinVar PMID:24033266 NCBI chr 5:151,131,909...152,164,077
Ensembl chr 5:157,719,540...158,139,633
JBrowse link
G SOD1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:25741868 PMID:30311386 NCBI chr21:18,029,831...18,037,526 JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr12:6,999,275...7,002,678
Ensembl chr12:6,910,813...6,913,612
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Neuromuscular disease
ClinVar Annotator: match by term: Neuromuscular Diseases
ClinVar PMID:956253 PMID:1520078 PMID:4056805 PMID:8179305 PMID:11891693 PMID:14755468 PMID:15668982 PMID:18587396 PMID:19232556 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21964574 PMID:22065612 PMID:22419508 PMID:22675077 PMID:22702953 PMID:22791502 PMID:22851605 PMID:24319099 PMID:24575025 PMID:24577120 PMID:24677493 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25703509 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26249260 PMID:26467025 PMID:26948711 PMID:27330106 PMID:27549087 PMID:27751652 PMID:28492532 PMID:28898540 PMID:30311386 NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Neuromuscular disorder ClinVar PMID:15466003 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:25741868 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30311386 NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
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 chr2B:65,783,512...66,064,618 JBrowse link
G XK X-linked Kx blood group ISO CTD Direct Evidence: marker/mechanism CTD PMID:8004674 PMID:8619554 NCBI chr  X:30,136,046...30,182,541
Ensembl chr  X:37,846,539...37,892,348
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 chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
JBrowse link
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO OMIM NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
JBrowse link
3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar PMID:11170888 PMID:14680978 PMID:24033266 PMID:25356967 PMID:25741868 PMID:28492532 NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO ClinVar Annotator: match by term: 3-MCC Deficiency ClinVar NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
JBrowse link
Actin-Accumulation Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital myopathy with excess of thin filaments ClinVar PMID:9185179 PMID:10508519 PMID:10528865 PMID:11333380 PMID:11525890 PMID:12601110 PMID:12921789 PMID:15226407 PMID:15236405 PMID:15468086 PMID:16427282 PMID:16945536 PMID:16967490 PMID:17227580 PMID:17387733 PMID:17705262 PMID:18414213 PMID:19206168 PMID:19553121 PMID:19562689 PMID:20303757 PMID:20621480 PMID:21514153 PMID:21520333 PMID:22442437 PMID:23102861 PMID:23294764 PMID:23394784 PMID:23650303 PMID:24033266 PMID:24642510 PMID:24787270 PMID:24852243 PMID:25182138 PMID:25214167 PMID:25326635 PMID:25470062 PMID:25525159 PMID:25635128 PMID:25741868 PMID:25890230 PMID:26172852 PMID:26436962 PMID:26467025 PMID:26507755 PMID:27447704 PMID:27854218 PMID:28256728 PMID:28357410 PMID:28416349 PMID:28492532 PMID:29274205 PMID:29792937 PMID:30253894 PMID:30311386 PMID:30354303 NCBI chr 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469
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 chr2A:11,664,727...11,815,497
Ensembl chr2A:11,857,961...11,961,551
JBrowse link
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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 chr 4:105,128,335...105,149,498
Ensembl chr 4:115,698,093...115,711,003
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 Ensembl chr16:29,265,516...29,290,807 JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC16A2 solute carrier family 16 member 2 ISO OMIM NCBI chr  X:63,673,992...63,787,011
Ensembl chr  X:73,791,200...73,903,727
JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
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 chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398
JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr15:67,901,276...67,913,911
Ensembl chr15:87,108,815...87,117,971
JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma ClinVar PMID:11257105 PMID:16454848 PMID:18199528 PMID:21859464 PMID:24033266 PMID:25637381 PMID:25741868 PMID:26580448 PMID:27535533 PMID:28492532 PMID:28503720 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
JBrowse link
G FOXO1 forkhead box O1 ISO OMIM NCBI chr13:21,763,729...21,874,279 JBrowse link
G PAX3 paired box 3 ISO OMIM NCBI chr2B:109,441,938...109,541,449
Ensembl chr2B:228,022,453...228,121,874
JBrowse link
G PAX7 paired box 7 ISO OMIM NCBI chr 1:17,589,513...17,707,442
Ensembl chr 1:18,639,641...18,756,952
JBrowse link
G TP73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
JBrowse link
G WWTR1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 3:146,536,564...146,678,847
Ensembl chr 3:154,114,034...154,254,490
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 chr17:76,381,000...76,422,189
Ensembl chr17:82,084,873...82,127,492
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 chr21:31,374,841...31,532,721
Ensembl chr21:44,715,931...44,815,748
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO protein:increased expression:skeletal muscle RGD PMID:18273716 RGD:5509081 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
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 chr2B:88,954,167...89,034,764
Ensembl chr2B:207,108,952...207,189,623
JBrowse link
G ANG angiogenin no_association ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
DNA:missense mutations
DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human)
protein:increased expression:cerebrospinal fluid
RGD
ClinVar
PMID:16501576 PMID:17462671 PMID:19177252 PMID:22190368 PMID:25741868 RGD:6892707 RGD:6892713 RGD:6892716 RGD:6892718 NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393
JBrowse link
G AOX1 aldehyde oxidase 1 ISO RGD PMID:7570184 RGD:734575 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
JBrowse link
G APOE apolipoprotein E severity ISO DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) RGD PMID:8899655 RGD:12880359 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
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 chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
JBrowse link
G ATG5 autophagy related 5 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr 6:103,997,824...104,140,931
Ensembl chr 6:107,871,208...108,013,807
JBrowse link
G ATOX1 antioxidant 1 copper chaperone disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 5:147,166,744...147,181,970
Ensembl chr 5:153,169,467...153,184,505
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 chr12:109,024,620...109,174,135
Ensembl chr12:112,419,337...112,566,360
JBrowse link
G BAD BCL2 associated agonist of cell death disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257
JBrowse link
G BAK1 BCL2 antagonist/killer 1 treatment ISO RGD PMID:20890041 RGD:13506803 NCBI chr 6:33,146,998...33,154,755
Ensembl chr 6:34,255,769...34,263,211
JBrowse link
G BAX BCL2 associated X, apoptosis regulator severity
disease_progression
treatment
ISO RGD PMID:10582606 PMID:20195368 PMID:20890041 PMID:21193837 PMID:24699224 RGD:13506797 RGD:13506800 RGD:13506803 RGD:13506805 RGD:13506907 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G BCL2L1 BCL2 like 1 disease_progression
treatment
ISO RGD PMID:10582606 PMID:18543336 RGD:13506902 RGD:13506907 NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
JBrowse link
G BECN1 beclin 1 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
JBrowse link
G BID BH3 interacting domain death agonist ISO RGD PMID:29440992 RGD:13506949 NCBI chr22:1,164,787...1,205,051
Ensembl chr22:16,594,186...16,632,844
JBrowse link
G BNIP3L BCL2 interacting protein 3 like ISO RGD PMID:29440992 RGD:13506949 NCBI chr 8:25,661,629...25,685,878
Ensembl chr 8:22,567,428...22,593,004
JBrowse link
G BPTF bromodomain PHD finger transcription factor ISO mRNA,protein:increased expression:spinal cord: RGD PMID:9225734 RGD:9586057 NCBI chr17:61,759,241...61,917,343
Ensembl chr17:66,956,594...67,109,428
JBrowse link
G C3 complement C3 ISO RGD PMID:19050293 RGD:5130169 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G C5AR1 complement C5a receptor 1 ISO RGD PMID:19050293 RGD:5130169 NCBI chr19:44,293,612...44,310,430
Ensembl chr19:52,950,317...52,966,146
JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:27713094 NCBI chr 9:27,395,054...27,422,282
Ensembl chr 9:28,001,813...28,022,066
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
G CALCA calcitonin related polypeptide alpha ISO RGD PMID:21964254 RGD:5684010 NCBI chr11:15,055,897...15,061,539
Ensembl chr11:14,745,588...14,751,267
JBrowse link
G CAMK1G calcium/calmodulin dependent protein kinase IG ISO CTD Direct Evidence: marker/mechanism CTD PMID:23624525 NCBI chr 1:185,160,170...185,190,470
Ensembl chr 1:189,965,490...189,995,703
JBrowse link
G CAPN14 calpain 14 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:31,186,027...31,245,818 JBrowse link
G CASP3 caspase 3 ISO protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
JBrowse link
G CASP9 caspase 9 ISO protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
JBrowse link
G CCR2 C-C motif chemokine receptor 2 disease_progression ISO protein:decreased expression:monocyte:
protein:increased expression:plasma:
RGD PMID:16857270 RGD:8657363 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G CCS copper chaperone for superoxide dismutase treatment ISO RGD PMID:26826269 RGD:13524551 NCBI chr11:61,949,928...61,963,519
Ensembl chr11:65,273,744...65,287,406
JBrowse link
G CD40LG CD40 ligand ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:20348957 RGD:5490547 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
JBrowse link
G CDK5 cyclin dependent kinase 5 ISO RGD PMID:11343650 RGD:734741 NCBI chr 7:142,640,630...142,644,785
Ensembl chr 7:154,793,344...154,797,499
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 chr21:30,585,802...30,595,981
Ensembl chr21:43,881,219...43,889,891
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 chr 3:87,358,297...87,386,556
Ensembl chr 3:89,471,993...89,501,241
JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:57,523,553...57,550,228
Ensembl chr15:76,487,710...76,512,044
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 chr20:59,730,759...59,748,678
Ensembl chr20:61,270,631...61,283,005
JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:57,552,697...57,570,828
Ensembl chr15:76,515,455...76,532,712
JBrowse link
G CNTF ciliary neurotrophic factor susceptibility ISO RGD PMID:11951178 RGD:734796 NCBI chr11:53,876,081...53,882,870
Ensembl chr11:57,336,792...57,341,121
JBrowse link
G CTSH cathepsin H ISO mRNA, protein:increased expression:spinal cord RGD PMID:17583678 RGD:5686391 NCBI chr15:57,893,379...57,917,194
Ensembl chr15:76,852,668...76,876,976
JBrowse link
G DAO D-amino acid oxidase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr12:106,453,807...106,475,409
Ensembl chr12:109,849,995...109,870,065
JBrowse link
G DBR1 debranching RNA lariats 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23104007 NCBI chr 3:135,188,636...135,202,934
Ensembl chr 3:142,639,712...142,653,016
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 chr2A:74,428,060...74,458,574
Ensembl chr2A:75,934,752...75,953,296
JBrowse link
G DDX20 DEAD-box helicase 20 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 1:114,402,492...114,432,217
Ensembl chr 1:125,918,392...125,930,197
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 chr17:15,298,432...15,339,389
Ensembl chr17:15,517,707...15,558,809
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO protein:decreased expression:mitochondrion: RGD PMID:24399935 RGD:9589066 NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605
JBrowse link
G DPP6 dipeptidyl peptidase like 6 no_association ISO DNA:SNP:intron:rs10260404 (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18084291 PMID:18708572 PMID:20137488 RGD:5687181 RGD:5687188 NCBI chr 7:145,356,340...146,492,773
Ensembl chr 7:157,635,828...158,220,345
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO protein:increased expression:spinal cord RGD PMID:12675919 RGD:2301741 NCBI chr2A:37,130,386...37,184,587
Ensembl chr2A:37,895,814...37,941,686
JBrowse link
G ELP3 elongator acetyltransferase complex subunit 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 8:27,370,360...27,470,169
Ensembl chr 8:24,570,410...24,669,941
JBrowse link
G EPO erythropoietin disease_progression ISO protein:decreased expression:cerebrospinal fluid RGD PMID:17368721 RGD:10395391 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
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 chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
JBrowse link
G EWSR1 EWS RNA binding protein 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr22:10,323,622...10,356,039
Ensembl chr22:28,131,109...28,163,134
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 chr 6:107,495,637...107,631,201
Ensembl chr 6:111,539,937...111,673,894
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 chr16:23,775,389...23,786,881
Ensembl chr16:31,551,135...31,562,327
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362
JBrowse link
G GFAP glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11723166 NCBI chr17:12,407,211...12,417,072
Ensembl chr17:12,579,754...12,591,961
JBrowse link
G GJC2 gap junction protein gamma 2 ISO protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse) RGD PMID:24597481 RGD:13208591 NCBI chr 1:203,551,556...203,561,702 JBrowse link
G GLE1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28884921 NCBI chr 9:99,627,336...99,664,537
Ensembl chr 9:128,294,607...128,331,301
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 treatment ISO human protein in a rat model RGD PMID:26113413 RGD:13506239 NCBI chr10:96,012,345...96,046,266
Ensembl chr10:99,506,205...99,540,178
JBrowse link
G GRN granulin precursor disease_progression
onset
ISO protein:increased expression:spinal cord, microglia
DNA:mutations: :
RGD PMID:18184915 PMID:21107132 RGD:5509593 RGD:5509619 NCBI chr17:13,046,329...13,054,236
Ensembl chr17:13,211,784...13,219,609
JBrowse link
G GSK3A glycogen synthase kinase 3 alpha ISO RGD PMID:12675919 RGD:2301741 NCBI chr19:39,118,330...39,130,768
Ensembl chr19:47,710,197...47,726,948
JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO RGD PMID:12675919 RGD:2301741 NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
JBrowse link
G GSR glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16681429 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16109392 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
JBrowse link
G HDAC4 histone deacetylase 4 severity ISO RGD PMID:23824486 RGD:9681450 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257
JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201
JBrowse link
G HMGB1 high mobility group box 1 severity ISO RGD PMID:23639787 RGD:10402056 NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527
JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K ISO protein:decreased expression:lumbar spinal cord ventral horn, astrocyte (mouse) RGD PMID:19323997 RGD:10058964 NCBI chr 9:40,898,593...40,911,159
Ensembl chr 9:83,324,238...83,336,756
JBrowse link
G HRK harakiri, BCL2 interacting protein ISO RGD PMID:29440992 RGD:13506949 NCBI chr12:114,432,755...114,458,044 JBrowse link
G IGF1R insulin like growth factor 1 receptor onset ISO mRNA:decreased expression:spinal cord (rat) RGD PMID:18683239 RGD:12904708 NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO protein:increased expression:spinal cord, astrocyte RGD PMID:18441505 RGD:2311519 NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762
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 chr12:59,478,206...59,984,572
Ensembl chr12:62,092,241...62,596,018
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO protein:decreased expression:brainstem RGD PMID:22987392 RGD:8662893 NCBI chr 1:135,391,321...135,424,100 JBrowse link
G KDR kinase insert domain receptor ISO protein:decreased expression:spinal cord RGD PMID:16410746 RGD:1580568 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO mRNA:increased expression:primary motor cortex (human) RGD PMID:18957896 RGD:6893397 NCBI chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604
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 chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577
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 chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327
JBrowse link
G LOC100977237 thioredoxin reductase 1, cytoplasmic susceptibility ISO DNA:SNPs:intron:rs6539137, rs4630362 (human) RGD PMID:18996185 RGD:5685032 NCBI chr12:101,862,703...101,925,104
Ensembl chr12:105,187,128...105,321,112
JBrowse link
G LOC100986475 metallothionein-2 onset ISO mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse) RGD PMID:18000159 RGD:6482832 NCBI chr16:36,894,853...36,895,826 JBrowse link
G LRRK2 leucine rich repeat kinase 2 ISO mRNA:increased expression:skeletal muscle RGD PMID:21375368 RGD:5508417 NCBI chr12:48,343,621...48,488,337
Ensembl chr12:49,205,930...49,350,462
JBrowse link
G MAML1 mastermind like transcriptional coactivator 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 5:174,886,694...174,931,153
Ensembl chr 5:182,230,351...182,242,296
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr20:30,887,345...30,888,986
Ensembl chr20:32,010,284...32,020,411
JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr 6:134,316,841...134,582,843
Ensembl chr 6:138,406,398...138,641,727
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:19796283 RGD:7207054 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO protein:increased expression:skin of body, spinal cord
protein:increased expression:serum, cerebrospinal fluid (human)
RGD PMID:19796283 PMID:20441996 RGD:13204793 RGD:7207054 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO protein:increased expression:skin of body, spinal cord
protein:increased expression:serum, cerebrospinal fluid (human)
RGD PMID:19796283 PMID:20441996 RGD:13204793 RGD:7207054 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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 chr 3:39,372,102...39,450,066
Ensembl chr 3:39,688,104...39,699,486
JBrowse link
G MSTN myostatin ISO RGD PMID:16837207 RGD:2303556 NCBI chr2B:77,364,927...77,452,426
Ensembl chr2B:195,283,903...195,290,922
JBrowse link
G MT3 metallothionein 3 ISO RGD PMID:12388585 PMID:12417341 PMID:17097207 RGD:6480495 RGD:6480625 RGD:6480627 NCBI chr16:36,875,919...36,877,558 JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association
susceptibility
ISO DNA:polymorphism: :c.677C>T(human) RGD PMID:21128869 PMID:21868135 RGD:11565111 RGD:11565173 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MTNR1A melatonin receptor 1A disease_progression ISO protein:decreased expression:spinal chord RGD PMID:23537713 RGD:13524569 NCBI chr 4:178,693,869...178,720,351
Ensembl chr 4:190,897,192...190,921,677
JBrowse link
G MTREX Mtr4 exosome RNA helicase ISO mRNA:increased expression:peripheral blood lymphocyte (human) RGD PMID:23006766 RGD:11041891 NCBI chr 5:58,604,582...58,722,532
Ensembl chr 5:60,227,431...60,345,303
JBrowse link
G NEFH neurofilament heavy treatment ISO DNA:deletions:cds:multiple (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
RGD
ClinVar
PMID:9931323 PMID:10686419 PMID:25741868 RGD:1302518 RGD:13525000 NCBI chr22:10,525,738...10,536,788 JBrowse link
G NEFL neurofilament light disease_progression
treatment
ISO protein:increased expression:serum, csf RGD PMID:10686419 PMID:26273687 RGD:13525000 RGD:13525006 NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
JBrowse link
G NEFM neurofilament medium ISO RGD PMID:16006557 RGD:9698444 NCBI chr 8:24,181,335...24,186,701
Ensembl chr 8:21,098,005...21,107,468
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 chr 4:161,618,181...161,830,332
Ensembl chr 4:173,690,074...173,902,100
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 chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:spinal cord (mouse) RGD PMID:21867702 RGD:5509065 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NOTCH1 notch receptor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
JBrowse link
G OPTN optineurin ISO DNA:missense mutations, nonsense mutation:cds, intron:multiple
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
protein:increased expression:spinal cord, neuron
DNA:deletion, missense mutation, nonsense mutation:exon:p.Q398X, p.E478G (human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:20428114 PMID:21059646 PMID:21613650 PMID:21825243 PMID:25096716 PMID:25741868 RGD:6480502 RGD:6480504 RGD:6480506 NCBI chr10:13,104,335...13,142,725
Ensembl chr10:13,077,345...13,115,773
JBrowse link
G PARK7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 1:6,722,260...6,745,915
Ensembl chr 1:7,969,280...7,993,271
JBrowse link
G PFN1 profilin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr17:4,993,853...4,996,811 JBrowse link
G PGF placental growth factor ISO RGD PMID:22119626 RGD:6483573 NCBI chr14:55,494,152...55,508,066 JBrowse link
G PLA2G4A phospholipase A2 group IVA ISO CTD Direct Evidence: marker/mechanism CTD PMID:15816863 NCBI chr 1:162,362,600...162,521,974
Ensembl chr 1:166,512,870...166,672,101
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr19:6,825,299...6,852,900
Ensembl chr19:7,683,789...7,710,241
JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868 PMID:28070599 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
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 chr 7:87,362,447...87,392,795
Ensembl chr 7:100,950,074...100,980,433
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 chr 7:87,314,788...87,354,020
Ensembl chr 7:100,902,432...100,941,611
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:decreased expression:motor cortex, muscle (human)
mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse)
human gene in mouse model
RGD PMID:22102466 PMID:23147503 RGD:6484265 RGD:7242019 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO protein:increased expression:spinal cord, astrocyte, microglia (mouse) RGD PMID:23118353 RGD:9999418 NCBI chr19:45,872,596...45,876,376
Ensembl chr19:54,880,141...54,883,003
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 chr12:39,451,832...39,456,800
Ensembl chr12:40,337,626...40,342,611
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:spinal cord, neuron, glia
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11220737 PMID:14511332 PMID:15816863 RGD:5688235 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G PTPRZ1 protein tyrosine phosphatase receptor type Z1 treatment ISO RGD PMID:25113670 RGD:9590123 NCBI chr 7:113,882,557...114,073,283
Ensembl chr 7:126,569,630...126,758,155
JBrowse link
G RARA retinoic acid receptor alpha ISO RGD PMID:17956549 RGD:2314289 NCBI chr17:16,932,485...16,980,958 JBrowse link
G RNASE4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr14:1,548,729...1,564,819
Ensembl chr14:19,620,758...19,621,201
JBrowse link
G SARM1 sterile alpha and TIR motif containing 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr17:28,370,206...28,403,440
Ensembl chr17:28,878,498...28,905,363
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 chr14:11,401,378...11,508,418
Ensembl chr14:29,602,241...29,709,133
JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:12067231 RGD:8554892 NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24885036 NCBI chr 9:34,471,362...34,474,459 JBrowse link
G SIRT1 sirtuin 1 ISO protein:increased expression:spinal cord (mouse) RGD PMID:17581637 RGD:2290573 NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
JBrowse link
G SLC11A2 solute carrier family 11 member 2 onset ISO DNA:SNP: :rs407135 (human) RGD PMID:21276595 RGD:5688710 NCBI chr12:37,726,158...37,774,554
Ensembl chr12:38,629,686...38,677,377
JBrowse link
G SLC1A2 solute carrier family 1 member 2 ISO CTD Direct Evidence: marker/mechanism
mRNA:processing errors:spinal cord, motor cortex (human)
CTD
RGD
PMID:9539131 PMID:11723166 RGD:1302517 NCBI chr11:35,223,811...35,392,799
Ensembl chr11:35,107,920...35,265,878
JBrowse link
G SLC31A1 solute carrier family 31 member 1 disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 9:84,319,304...84,362,288
Ensembl chr 9:112,691,503...112,734,352
JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20132478 NCBI chr 3:10,930,455...10,976,968
Ensembl chr 3:11,296,023...11,323,624
JBrowse link
G SOD1 superoxide dismutase 1 treatment ISO human gene in a rat model;DNA:missense mutation:cds:p.G93A (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
protein:increased expression:cerebrospinal fluid (human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:7887412 PMID:9065559 PMID:10025816 PMID:10930589 PMID:11220737 PMID:11590119 PMID:11723166 PMID:12586733 PMID:12626432 PMID:16495328 PMID:17097207 PMID:17319283 PMID:17496168 PMID:18233996 PMID:18947433 PMID:19635794 PMID:19929749 PMID:20132483 PMID:20177826 PMID:20348957 PMID:20515040 PMID:21867702 PMID:23147550 PMID:23583883 PMID:24885036 PMID:25164820 PMID:25741868 PMID:26826269 PMID:30503815 RGD:13524551 RGD:2312367 RGD:8655880 NCBI chr21:18,029,831...18,037,526 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8866423 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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 chr15:23,519,311...23,620,532
Ensembl chr15:41,688,081...41,788,616
JBrowse link
G SQSTM1 sequestosome 1 ISO mRNA:increased expression:spinal cord
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:19765191 PMID:23851366 PMID:25741868 PMID:28492532 RGD:11561951 NCBI chr 5:174,960,727...174,989,946
Ensembl chr 5:182,284,436...182,299,093
JBrowse link
G SS18L1 SS18L1 subunit of BAF chromatin remodeling complex ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr20:58,509,322...58,549,380
Ensembl chr20:59,843,921...59,869,504
JBrowse link
G STEAP2 STEAP2 metalloreductase disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 7:82,220,814...82,246,718
Ensembl chr 7:95,823,012...95,849,354
JBrowse link
G TARDBP TAR DNA binding protein disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.G295S(human)
DNA:missense mutations:cds:
DNA:mutation:cds:p.M337V(human)
protein:increased phosphorylation:brain
RGD
CTD
PMID:17023659 PMID:18309045 PMID:18372902 PMID:21167262 PMID:21651514 PMID:21752789 PMID:21998667 PMID:22879928 PMID:23104007 PMID:24019256 PMID:24252504 RGD:5687134 RGD:5687137 RGD:5687157 RGD:5687158 RGD:5687173 RGD:5687192 NCBI chr 1:9,775,084...9,786,710
Ensembl chr 1:10,996,006...11,008,732
JBrowse link
G TFAM transcription factor A, mitochondrial severity ISO RGD PMID:22354563 RGD:6767572 NCBI chr10:54,917,578...54,934,124
Ensembl chr10:57,138,437...57,147,972
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:spinal cord RGD PMID:13678668 RGD:12904653 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFRSF21 TNF receptor superfamily member 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24113175 NCBI chr 6:46,815,762...46,894,286
Ensembl chr 6:48,079,749...48,158,356
JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 5:146,457,347...146,514,515
Ensembl chr 5:152,459,868...152,510,540
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17434459 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 chr15:29,513,220...29,639,506
Ensembl chr15:47,853,187...47,977,451
JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:30311386 NCBI chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785
JBrowse link
G UBQLN2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis RGD
ClinVar
PMID:21857683 PMID:25333069 PMID:25616961 PMID:25741868 PMID:26075709 PMID:28492532 RGD:5147832 NCBI chr  X:48,829,844...48,835,040
Ensembl chr  X:56,981,985...56,983,859
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 chr19:17,088,654...17,175,559
Ensembl chr19:18,068,006...18,150,642
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 chr20:54,736,035...54,798,155
Ensembl chr20:56,010,782...56,064,363
JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:15034582 PMID:20604808 PMID:22270372 PMID:22909335 PMID:23333620 PMID:25617006 PMID:25741868 PMID:28492532 NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNP:intron:rs7975232(human) RGD PMID:26190642 RGD:11560790 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:16410746 RGD:1580568 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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 chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
JBrowse link
G CALB2 calbindin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:53,620,317...53,653,372
Ensembl chr16:71,195,770...71,227,937
JBrowse link
G CASP1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149
JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981
JBrowse link
G CD7 CD7 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:76,724,313...76,727,998
Ensembl chr17:82,535,558...82,537,847
JBrowse link
G CLU clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
JBrowse link
G CNTF ciliary neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11951178 NCBI chr11:53,876,081...53,882,870
Ensembl chr11:57,336,792...57,341,121
JBrowse link
G CREBBP CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
JBrowse link
G CST3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425
JBrowse link
G CTSD cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:1,789,326...1,800,524 JBrowse link
G DBX1 developing brain homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:20,180,704...20,185,164
Ensembl chr11:20,092,540...20,097,727
JBrowse link
G DCTN1 dynactin subunit 1 ISO OMIM NCBI chr2A:74,428,060...74,458,574
Ensembl chr2A:75,934,752...75,953,296
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 chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648
JBrowse link
G FGF6 fibroblast growth factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:4,543,776...4,555,352
Ensembl chr12:4,466,975...4,478,459
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr 6:107,495,637...107,631,201
Ensembl chr 6:111,539,937...111,673,894
JBrowse link
G FMO1 flavin containing dimethylaniline monoxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127561 NCBI chr 1:146,742,505...146,778,560
Ensembl chr 1:150,456,729...150,492,527
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766
JBrowse link
G FUS FUS RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr16:23,775,389...23,786,881
Ensembl chr16:31,551,135...31,562,327
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117
JBrowse link
G GBX2 gastrulation brain homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr2B:123,392,499...123,399,549 JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:143,878,690...143,885,251
Ensembl chr  X:153,749,661...153,755,877
JBrowse link
G GFAP glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:12,407,211...12,417,072
Ensembl chr17:12,579,754...12,591,961
JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15264227 NCBI chr  X:112,380,229...112,687,740
Ensembl chr  X:122,562,330...122,870,130
JBrowse link
G GSX2 GS homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:69,837,643...69,840,101
Ensembl chr 4:76,397,180...76,399,715
JBrowse link
G HSF1 heat shock transcription factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24256636 NCBI chr 8:141,055,310...141,078,360
Ensembl chr 8:144,062,137...144,067,866
JBrowse link
G INA internexin neuronal intermediate filament protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:99,877,665...99,890,947
Ensembl chr10:103,340,438...103,353,888
JBrowse link
G JAK3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
JBrowse link
G JUND JunD proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:17,755,331...17,757,164 JBrowse link
G KIF3C kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr2A:25,927,039...25,982,715
Ensembl chr2A:26,020,025...26,074,961
JBrowse link
G KIF5A kinesin family member 5A ISO mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327
JBrowse link
G KIF5C kinesin family member 5C ISO mRNA:increased expression:frontal cortex, cerebellum (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr2B:10,836,356...10,987,683
Ensembl chr2B:153,235,329...153,387,221
JBrowse link
G LAT linker for activation of T cells ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754
G LDLR low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
JBrowse link
G MASP2 mannan binding lectin serine peptidase 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:24033266 PMID:28492532 NCBI chr 1:9,787,565...9,810,276
Ensembl chr 1:11,009,760...11,030,734
JBrowse link
G NEFH neurofilament heavy ISO OMIM NCBI chr22:10,525,738...10,536,788 JBrowse link
G OTOG otogelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:17,601,738...17,701,472
Ensembl chr11:17,287,150...17,386,100
JBrowse link
G PDGFA platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 7:648,722...672,023 JBrowse link
G PENK proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:52,864,388...52,870,144
Ensembl chr 8:50,234,170...50,239,949
JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17204329 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
G PRPH peripherin ISO OMIM NCBI chr12:39,451,832...39,456,800
Ensembl chr12:40,337,626...40,342,611
JBrowse link
G RXRA retinoid X receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704
JBrowse link
G SELPLG selectin P ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:106,197,975...106,209,627
Ensembl chr12:109,594,990...109,603,941
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
JBrowse link
G SHC1 SHC adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008
JBrowse link
G SIX2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr2A:45,109,414...45,113,887
Ensembl chr2A:46,039,582...46,044,035
JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:46,321,075...46,328,865
Ensembl chr20:47,384,818...47,390,733
JBrowse link
G SOD1 superoxide dismutase 1 ISO OMIM NCBI chr21:18,029,831...18,037,526 JBrowse link
G TARDBP TAR DNA binding protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
CTD
ClinVar
PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 PMID:24033266 PMID:24477737 PMID:26467025 PMID:28492532 NCBI chr 1:9,775,084...9,786,710
Ensembl chr 1:10,996,006...11,008,732
JBrowse link
G TIAM1 TIAM Rac1 associated GEF 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr21:17,483,273...17,925,301
Ensembl chr21:30,868,308...31,016,883
JBrowse link
G TLE3 TLE family member 3, transcriptional corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr15:49,000,145...49,050,246
Ensembl chr15:67,770,176...67,817,320
JBrowse link
G TMSB4X thymosin beta 4 X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:5,587,242...5,589,417 JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G UBQLN2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:48,829,844...48,835,040
Ensembl chr  X:56,981,985...56,983,859
JBrowse link
G VAPB VAMP associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr20:54,736,035...54,798,155
Ensembl chr20:56,010,782...56,064,363
JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588
JBrowse link
G VIM vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:17,546,389...17,554,702
Ensembl chr10:17,818,285...17,826,642
JBrowse link
G WNT7A Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:13,733,487...13,797,189
Ensembl chr 3:14,077,839...14,138,386
JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:113,052,164...113,105,160
Ensembl chr  X:123,232,643...123,278,606
JBrowse link
amyotrophic lateral sclerosis type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MASP2 mannan binding lectin serine peptidase 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar NCBI chr 1:9,787,565...9,810,276
Ensembl chr 1:11,009,760...11,030,734
JBrowse link
G TARDBP TAR DNA binding protein ISO OMIM NCBI chr 1:9,775,084...9,786,710
Ensembl chr 1:10,996,006...11,008,732
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 chr 6:107,495,637...107,631,201
Ensembl chr 6:111,539,937...111,673,894
JBrowse link
amyotrophic lateral sclerosis type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPTN optineurin ISO OMIM NCBI chr10:13,104,335...13,142,725
Ensembl chr10:13,077,345...13,115,773
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 chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588
JBrowse link
amyotrophic lateral sclerosis type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBQLN2 ubiquilin 2 ISO OMIM NCBI chr  X:48,829,844...48,835,040
Ensembl chr  X:56,981,985...56,983,859
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 chr 9:34,471,362...34,474,459 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 chr 3:87,358,297...87,386,556
Ensembl chr 3:89,471,993...89,501,241
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 chr17:4,993,853...4,996,811 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 chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
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 chr12:34,456,900...34,463,317
Ensembl chr12:35,184,943...35,188,443
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 chr 5:134,664,893...134,702,566 JBrowse link
amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100995882 tubulin alpha-4A chain ISO OMIM NCBI chr2B:106,507,842...106,512,155
Ensembl chr2B:225,093,643...225,102,188
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 chr10:76,065,939...76,116,400
Ensembl chr10:78,724,086...78,775,037
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 chr 4:161,618,181...161,830,332
Ensembl chr 4:173,690,074...173,902,100
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 chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327
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 chr16:23,775,389...23,786,881
Ensembl chr16:31,551,135...31,562,327
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 chr20:54,805,503...54,862,730
Ensembl chr20:56,080,872...56,092,622
JBrowse link
G ATP5F1E ATP synthase F1 subunit epsilon ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:55,379,615...55,383,316
Ensembl chr20:56,740,739...56,744,431
JBrowse link
G CTSZ cathepsin Z ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:55,346,241...55,358,354
Ensembl chr20:56,706,511...56,718,941
JBrowse link
G EDN3 endothelin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:55,652,770...55,678,486
Ensembl chr20:57,012,926...57,038,570
JBrowse link
G LOC100990650 guanine nucleotide-binding protein G(s) subunit alpha ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:55,190,607...55,262,245 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 chr20:55,332,309...55,346,167
Ensembl chr20:56,693,685...56,706,458
JBrowse link
G NPEPL1 aminopeptidase like 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:55,037,301...55,065,461
Ensembl chr20:56,309,440...56,338,179
JBrowse link
G PRELID3B PRELI domain containing 3B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:55,384,087...55,393,784
Ensembl chr20:56,745,209...56,754,944
JBrowse link
G STX16 syntaxin 16 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:54,999,514...55,027,787
Ensembl chr20:56,271,484...56,299,929
JBrowse link
G TUBB1 tubulin beta 1 class VI ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:55,370,122...55,377,616
Ensembl chr20:56,730,882...56,738,741
JBrowse link
G VAPB VAMP associated protein B and C ISO OMIM NCBI chr20:54,736,035...54,798,155
Ensembl chr20:56,010,782...56,064,363
JBrowse link
G ZNF831 zinc finger protein 831 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr20:55,498,545...55,611,830
Ensembl chr20:56,859,452...56,971,937
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 chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393
JBrowse link
G RNASE4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 9
ClinVar PMID:16501576 PMID:17462671 PMID:17703939 PMID:17886298 PMID:17900154 PMID:18087731 PMID:18852347 PMID:19153377 PMID:19363631 PMID:19444281 PMID:19449021 PMID:19488901 PMID:20577002 PMID:22190368 PMID:22292843 PMID:22384259 PMID:22499346 PMID:22522484 PMID:22645277 PMID:23047679 PMID:23155438 PMID:23447461 PMID:23463871 PMID:23665167 PMID:25382069 PMID:25741868 PMID:26255299 PMID:26467025 PMID:28444446 PMID:28492532 NCBI chr14:1,548,729...1,564,819
Ensembl chr14:19,620,758...19,621,201
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 chr2B:88,954,167...89,034,764
Ensembl chr2B:207,108,952...207,189,623
JBrowse link
G OPTN optineurin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar NCBI chr10:13,104,335...13,142,725
Ensembl chr10:13,077,345...13,115,773
JBrowse link
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PARK7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 1:6,722,260...6,745,915
Ensembl chr 1:7,969,280...7,993,271
JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 susceptibility
no_association
ISO DNA:mutation:cds: p.T1482I (human)
CTD Direct Evidence: marker/mechanism
OMIM
RGD
CTD
PMID:16051700 PMID:19405049 RGD:5685005 RGD:5685008 NCBI chr15:29,513,220...29,639,506
Ensembl chr15:47,853,187...47,977,451
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 chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
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 chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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 chr14:57,982,041...58,013,037
Ensembl chr14:77,183,185...77,213,382
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 chr15:69,691,717...69,715,617 JBrowse link
Arthrogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG6 adhesion G protein-coupled receptor G6 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:26004201 PMID:26752647 NCBI chr 6:140,069,168...140,211,011
Ensembl chr 6:144,142,374...144,283,545
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16826520 PMID:16826531 NCBI chr2B:119,770,636...119,779,332
Ensembl chr2B:238,689,935...238,696,526
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 chr2B:119,711,355...119,719,378
Ensembl chr2B:238,630,731...238,637,233
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr10:44,703,720...44,784,948 JBrowse link
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:30311386 NCBI chr14:9,545,147...9,572,309 JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868 PMID:30311386 NCBI chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577
JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735
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 chr17:41,231,081...41,262,671
Ensembl chr17:45,978,472...46,010,038
JBrowse link
G MYOD1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:31260566 NCBI chr11:17,772,317...17,774,884
Ensembl chr11:17,456,124...17,458,690
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:8423615 PMID:11152147 PMID:17345626 PMID:19571066 PMID:23487782 PMID:24649842 PMID:24726473 PMID:25712306 PMID:25741868 PMID:27607563 PMID:27653382 PMID:27714920 PMID:27912047 PMID:31680123 NCBI chr18:3,141,285...3,619,885
Ensembl chr18:5,407,467...5,882,928
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 chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:20220177 PMID:21291453 PMID:25741868 PMID:26392352 PMID:26794302 PMID:28492532 PMID:30311386 NCBI chr 5:144,412,449...144,490,183
Ensembl chr 5:150,438,976...150,498,354
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO DNA:mutation:splice junction: RGD PMID:19542096 RGD:13209012 NCBI chr 6:149,936,306...150,454,822
Ensembl chr 6:154,627,904...155,144,076
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 chr11:1,874,633...1,878,343
Ensembl chr11:1,902,554...1,910,084
JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr11:1,936,614...1,955,784
Ensembl chr11:1,968,184...1,987,849
JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:11738357 PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr15:69,691,717...69,715,617 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 chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
JBrowse link
Arthrogryposis Multiplex Congenita 3, Myogenic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE ClinVar PMID:27782104 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO OMIM NCBI chr 6:149,936,306...150,454,822
Ensembl chr 6:154,627,904...155,144,076
JBrowse link
Arthrogryposis Multiplex Congenita 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOR1A torsin family 1 member A ISO OMIM NCBI chr 9:100,940,554...100,951,726 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 chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394
JBrowse link
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC35A3 solute carrier family 35 member A3 ISO OMIM NCBI chr 1:102,625,605...102,701,687 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 chr14:55,633,667...55,678,670
Ensembl chr14:74,478,387...74,522,320
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 chr14:57,982,041...58,013,037
Ensembl chr14:77,183,185...77,213,382
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO OMIM NCBI chr15:69,691,717...69,715,617 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 chr14:57,982,041...58,013,037
Ensembl chr14:77,183,185...77,213,382
JBrowse link
autosomal dominant adult-onset proximal spinal muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Adult proximal spinal muscular atrophy, autosomal dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577
JBrowse link
G VAPB VAMP associated protein B and C ISO OMIM NCBI chr20:54,736,035...54,798,155
Ensembl chr20:56,010,782...56,064,363
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 chr11:17,772,317...17,774,884
Ensembl chr11:17,456,124...17,458,690
JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator ISO OMIM NCBI chr 5:15,014,019...15,175,467
Ensembl chr 5:14,855,914...14,917,729
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 chr 5:14,969,432...15,017,666
Ensembl chr 5:14,809,539...14,837,750
JBrowse link
autosomal dominant distal hereditary motor neuronopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 PMID:24336790 PMID:25497877 PMID:25741868 PMID:26467025 PMID:27549087 PMID:27784775 PMID:28251916 PMID:28492532 PMID:28832565 PMID:32581362 NCBI chr 9:63,834,515...63,890,904
Ensembl chr 9:91,909,771...91,959,131
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 chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr 6:107,495,637...107,631,201
Ensembl chr 6:111,539,937...111,673,894
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 chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582
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 chr11:63,991,285...64,028,430
Ensembl chr11:67,294,195...67,331,659
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:25886484 PMID:28492532 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
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 chr22:11,912,043...11,995,497
Ensembl chr22:29,753,241...29,795,632
JBrowse link
G NEFL neurofilament light ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:19696032 PMID:22088787 PMID:26467025 PMID:28492532 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy ClinVar PMID:1520078 PMID:8179305 PMID:10463355 PMID:15668982 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21115951 PMID:21288981 PMID:21454511 PMID:22065612 PMID:22291064 PMID:22526352 PMID:22702953 PMID:24319099 PMID:24789864 PMID:25741868 PMID:26048687 PMID:26467025 PMID:26948711 PMID:28492532 NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO OMIM NCBI chr 6:149,936,306...150,454,822
Ensembl chr 6:154,627,904...155,144,076
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 chr14:44,438,851...44,807,710
Ensembl chr14:62,751,560...63,064,136
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 chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587
JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100978529 myosin-7 ISO OMIM NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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 chr 7:148,952,823...149,034,578
Ensembl chr 7:160,646,321...160,726,447
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 chr 7:120,906,238...121,008,216
Ensembl chr 7:133,430,490...133,531,774
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 chr 4:41,771,512...41,777,135
Ensembl chr 4:47,621,973...47,628,885
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 LOC100984344 calpain-3 ISO OMIM NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820
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 chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO OMIM NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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 chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
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 chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549
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 chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
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 chr17:58,546,046...58,570,679
Ensembl chr17:63,638,549...63,663,193
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO OMIM NCBI chr17:58,574,442...58,593,915
Ensembl chr17:63,667,246...63,686,503
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 chr 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056
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 chr10:64,898,024...64,956,541
Ensembl chr10:67,207,261...67,264,257
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 chr2B:33,168,767...33,228,075
Ensembl chr2B:127,716,550...127,775,378
JBrowse link
G SPEG striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr2B:106,692,222...106,750,922
Ensembl chr2B:225,282,676...225,339,910
JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO OMIM NCBI chr 6:119,213,513...119,227,617 JBrowse link
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
autosomal recessive hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100978529 myosin-7 ISO OMIM NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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 chr11:22,201,694...22,295,781
Ensembl chr11:22,112,482...22,206,637
JBrowse link
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 9:87,558,337...88,538,570
Ensembl chr 9:115,912,657...116,890,931
JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:9536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 PMID:17060380 PMID:17210839 PMID:17275750 PMID:19380584 PMID:20472890 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26467025 PMID:26498160 PMID:27483260 PMID:27930701 PMID:28492532 PMID:29961767 PMID:30055862 NCBI chr 3:8,684,829...8,697,731
Ensembl chr 3:8,928,069...8,940,942
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 chr2A:71,495,573...71,730,073
Ensembl chr2A:72,994,888...73,228,846
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 chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:12920062 PMID:15205219 PMID:15475483 PMID:15998779 PMID:17377071 PMID:18414213 PMID:18549403 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19638735 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24721642 PMID:25741868 PMID:26467025 PMID:26602028 PMID:27896052 PMID:28492532 PMID:28679633 PMID:28785654 PMID:30311386 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G LOC100984344 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 chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:15466003 PMID:17869517 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:23894383 PMID:25741868 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30311386 NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:23757202 PMID:24033266 PMID:25741868 NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
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 chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
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 chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
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 chr17:44,255,807...44,266,182
Ensembl chr17:49,130,332...49,141,188
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 chr 4:71,924,051...71,942,642
Ensembl chr 4:78,476,969...78,491,156
JBrowse link
G SGCD sarcoglycan delta ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:10974018 PMID:12794684 PMID:18414213 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26968544 PMID:28401079 PMID:28492532 NCBI chr 5:151,131,909...152,164,077
Ensembl chr 5:157,719,540...158,139,633
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 chr13:4,471,680...4,638,419
Ensembl chr13:22,810,771...22,932,350
JBrowse link
G TRIM32 tripartite motif containing 32 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 9:87,819,723...87,838,684
Ensembl chr 9:116,183,746...116,185,707
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:15466003 PMID:17869517 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:23894383 PMID:25741868 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30311386 NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
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 chr2B:65,783,512...66,064,618 JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA2 laminin subunit alpha 2 ISO OMIM NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337
JBrowse link
G TRAPPC11 trafficking protein particle complex 11 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 ClinVar PMID:23830518 PMID:25741868 PMID:28492532 PMID:29158550 PMID:31575891 NCBI chr 4:175,836,327...175,890,641
Ensembl chr 4:188,062,815...188,116,535
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 chr 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557
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 chr 6:102,972,263...102,993,986
Ensembl chr 6:106,846,329...106,850,599
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 LOC100984344 calpain-3 ISO OMIM NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820
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 chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856
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 DYSF dysferlin ISO OMIM NCBI chr2A:71,495,573...71,730,073
Ensembl chr2A:72,994,888...73,228,846
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868 PMID:31263448 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G LOC100978529 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 chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
JBrowse link
G LOC100984344 calpain-3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868 PMID:31263448 NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820
JBrowse link
G VDR vitamin D receptor ISO protein:increased expression:muscle: RGD PMID:27558075 RGD:13210781 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C
ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type
ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
JBrowse link
G SGCG sarcoglycan gamma ISO OMIM NCBI chr13:4,471,680...4,638,419
Ensembl chr13:22,810,771...22,932,350
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
JBrowse link
G SGCA sarcoglycan alpha treatment ISO OMIM
RGD
PMID:17653106 RGD:13605612 NCBI chr17:44,255,807...44,266,182
Ensembl chr17:49,130,332...49,141,188
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 chr13:4,471,680...4,638,419
Ensembl chr13:22,810,771...22,932,350
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 chr 4:71,924,051...71,942,642
Ensembl chr 4:78,476,969...78,491,156
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 chr 5:151,131,909...152,164,077
Ensembl chr 5:157,719,540...158,139,633
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 chr17:17,622,318...17,625,252
Ensembl chr17:17,839,139...17,842,727
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Sarcotubular myopathy ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 PMID:17994549 PMID:19349376 PMID:21775502 PMID:22025579 PMID:22981120 PMID:23142638 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 9:87,558,337...88,538,570
Ensembl chr 9:115,912,657...116,890,931
JBrowse link
G TRIM32 tripartite motif containing 32 ISO OMIM NCBI chr 9:87,819,723...87,838,684
Ensembl chr 9:116,183,746...116,185,707
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 chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED ClinVar PMID:25741868 NCBI chr19:43,711,834...43,738,742
Ensembl chr19:52,240,880...52,260,241
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 chr2B:65,783,512...66,064,618 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
JBrowse link
G AIF1L allograft inflammatory factor 1 like ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,218,242...102,244,846
Ensembl chr 9:130,863,031...130,891,744
JBrowse link
G EXOSC2 exosome component 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:101,815,368...101,826,464
Ensembl chr 9:130,464,487...130,475,719
JBrowse link
G FAM78A family with sequence similarity 78 member A ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,380,073...102,399,992
Ensembl chr 9:131,024,410...131,042,975
JBrowse link
G FIBCD1 fibrinogen C domain containing 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,018,681...102,058,898
Ensembl chr 9:130,668,147...130,695,731
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 chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
JBrowse link
G LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,131,594...102,213,829
Ensembl chr 9:130,777,182...130,861,292
JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,246,575...102,355,291
Ensembl chr 9:130,893,110...131,001,305
JBrowse link
G PLPP7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,411,095...102,431,146
Ensembl chr 9:131,055,406...131,073,474
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO OMIM NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
JBrowse link
G PRDM12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:101,786,052...101,803,287 JBrowse link
G PRRC2B proline rich coiled-coil 2B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,516,585...102,622,588
Ensembl chr 9:131,193,641...131,262,894
JBrowse link
G QRFP pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,008,900...102,013,194
Ensembl chr 9:130,659,140...130,659,550
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 chr11:22,201,694...22,295,781
Ensembl chr11:22,112,482...22,206,637
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 chr 5:123,673,209...123,953,741
Ensembl chr 5:129,435,248...129,715,711
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 chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
Ensembl chr 9:104,849,496...104,925,422
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 chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
Ensembl chr 9:104,849,496...104,925,422
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO OMIM NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
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 chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
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 chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
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 chr 3:49,344,590...49,350,383
Ensembl chr 3:50,589,193...50,594,968
JBrowse link
G C3H3orf62 chromosome 3 C3orf62 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,191,640...49,199,806
Ensembl chr 3:50,273,460...50,279,995
JBrowse link
G C3H3orf84 chromosome 3 C3orf84 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,100,962...49,115,215
Ensembl chr 3:50,180,907...50,195,215
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 chr 3:49,085,870...49,089,723 JBrowse link
G DAG1 dystroglycan 1 ISO OMIM NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
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 chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
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 chr 3:49,122,120...49,181,228
Ensembl chr 3:50,239,250...50,259,890
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 chr 3:49,094,203...49,099,818
Ensembl chr 3:50,174,393...50,179,759
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 chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074
JBrowse link
G LOC100967331 ubiquitin carboxyl-terminal hydrolase 4 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,199,328...49,263,861
Ensembl chr 3:50,279,642...50,343,903
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 chr 3:49,350,753...49,357,161 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 chr 3:49,282,009...49,339,887 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 chr 3:49,340,010...49,344,288 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEC plectin ISO OMIM NCBI chr 8:140,681,252...140,742,753
Ensembl chr 8:143,674,696...143,712,433
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 chr 4:175,836,327...175,890,641
Ensembl chr 4:188,062,815...188,116,535
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 chr 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969
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 chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220
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 chr2B:32,623,444...32,630,256
Ensembl chr2B:128,316,464...128,321,519
JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO OMIM NCBI chr2B:32,594,330...32,637,697
Ensembl chr2B:128,304,799...128,347,951
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 chr 6:102,915,148...102,951,141
Ensembl chr 6:106,787,615...106,822,050
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 TOR1AIP1 torsin 1A interacting protein 1 ISO OMIM NCBI chr 1:155,362,806...155,401,185
Ensembl chr 1:159,043,072...159,081,408
JBrowse link
G TOR1AIP2 torsin 1A interacting protein 2 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y ClinVar PMID:24856141 PMID:25193337 NCBI chr 1:155,321,181...155,358,966
Ensembl chr 1:159,005,944...159,039,058
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 chr 3:116,591,271...116,617,382
Ensembl chr 3:123,503,899...123,529,919
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 chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO OMIM NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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 chr2A:3,550,303...3,578,161
Ensembl chr2A:3,482,772...3,496,978
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 chr16:46,793,679...46,868,508
Ensembl chr16:65,928,102...65,970,315
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 chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563
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 chr17:32,814,448...32,858,076
Ensembl chr17:37,897,037...37,936,135
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 6:1,429,051...1,433,180 JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr11:31,753,190...31,782,225 JBrowse link
G PITX2 paired like homeodomain 2 ISO OMIM NCBI chr 4:103,112,624...103,137,356 JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:112,896,606...113,127,400
Ensembl chr 4:124,036,911...124,252,928
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 chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
JBrowse link
Becker muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin ISO OMIM NCBI chr  X:23,728,650...26,338,849
Ensembl chr  X:31,282,415...33,492,733
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 chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998
JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:25741868 NCBI chr20:29,696,137...29,732,258
Ensembl chr20:30,810,787...30,844,476
JBrowse link
Benign Pseudohypertrophic Muscular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:7881286 PMID:17259292 PMID:19937601 PMID:23757202 PMID:24033266 PMID:25447171 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:23,728,650...26,338,849
Ensembl chr  X:31,282,415...33,492,733
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 chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998
JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:25741868 NCBI chr20:29,696,137...29,732,258
Ensembl chr20:30,810,787...30,844,476
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 chr 6:72,927,897...73,049,168
Ensembl chr 6:76,219,319...76,340,496
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 chr21:32,322,185...32,346,850
Ensembl chr21:45,584,096...45,607,240
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 chr21:32,442,859...32,478,076
Ensembl chr21:45,710,491...45,730,895
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 chr2B:124,554,478...124,644,482 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 chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400
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 chr2B:123,795,664...123,810,067
Ensembl chr2B:242,666,173...242,667,261
JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 NCBI chr  X:42,137,523...42,299,716
Ensembl chr  X:49,854,165...50,006,363
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 chr21:32,322,185...32,346,850
Ensembl chr21:45,584,096...45,607,240
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 chr21:32,442,859...32,478,076
Ensembl chr21:45,710,491...45,730,895
JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO OMIM NCBI chr2B:124,554,478...124,644,482 JBrowse link
G COPS8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr2B:124,315,423...124,328,830
Ensembl chr2B:243,169,322...243,182,937
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 chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400
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 chr 6:72,927,897...73,049,168
Ensembl chr 6:76,219,319...76,340,496
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 chr 7:93,347,335...93,358,921
Ensembl chr 7:106,587,858...106,599,605
JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualif