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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:muscular disease
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Accession:DOID:0080000 term browser browse the term
Definition:Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.
Synonyms:exact_synonym: Muscle Disorder;   Muscle Disorders;   muscular diseases
 narrow_synonym: SKELETAL MUSCLE DISEASE
 primary_id: MESH:D009135
For additional species annotation, visit the Alliance of Genome Resources.


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muscular disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin ISO CTD Direct Evidence: therapeutic CTD PMID:4126124 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11102975 PMID:18380285 NCBI chr17:52,377,411...52,399,525
Ensembl chr17:52,377,402...52,399,520
JBrowse link
G ARG1 arginase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21152098 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G CLU clusterin ISO RGD PMID:15912881 RGD:1626306 NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO variable myopathy, R503C
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10873395 PMID:18380285 RGD:734814 NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chr14:30,697,060...30,989,423
Ensembl chr14:30,648,128...30,989,604
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G CTSB cathepsin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:7099197 NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr30:7,144,727...7,248,014
Ensembl chr30:7,144,570...7,248,000
JBrowse link
G FABP3 fatty acid binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18308699 NCBI chr 2:69,651,140...69,659,082
Ensembl chr 2:69,650,322...69,658,443
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29905857 NCBI chr10:68,067,817...68,125,001
Ensembl chr10:68,073,062...68,125,007
JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961002 NCBI chr11:19,551,057...19,555,390 JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:21360500 PMID:23953224 RGD:5508448 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
JBrowse link
G HTR3B 5-hydroxytryptamine receptor 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17600820 NCBI chr 5:19,361,011...19,393,206
Ensembl chr 5:19,362,382...19,414,912
JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17600820 NCBI chr28:5,438,872...5,524,385
Ensembl chr28:5,440,388...5,524,191
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9184656 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:496411 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
JBrowse link
G ITGA7 integrin subunit alpha 7 ISO RGD PMID:9590299 RGD:1600024 NCBI chr10:91,782...110,839
Ensembl chr10:91,391...110,817
JBrowse link
G LPL lipoprotein lipase ISO RGD PMID:7635990 RGD:1302535 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
JBrowse link
G MAOA monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15946989 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757
JBrowse link
G MEGF10 multiple EGF like domains 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22101682 NCBI chr11:16,359,648...16,574,882
Ensembl chr11:16,378,669...16,617,335
JBrowse link
G MICU1 mitochondrial calcium uptake 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24336167 NCBI chr 4:22,989,213...23,237,278
Ensembl chr 4:22,990,034...23,237,160
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19683050 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
JBrowse link
G PRKCD protein kinase C delta ISO associated with Diabetes Mellitus, Type 1;protein:increased expression:skeletal muscle RGD PMID:9458880 RGD:1642535 NCBI chr20:36,723,491...36,751,982
Ensembl chr20:36,723,809...36,752,191
JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:18380285 NCBI chr18:52,398,192...52,410,731
Ensembl chr18:52,398,056...52,410,464
JBrowse link
G RAPSN receptor associated protein of the synapse ISO CTD Direct Evidence: marker/mechanism CTD PMID:9668287 NCBI chr18:42,199,160...42,210,668
Ensembl chr18:42,199,412...42,210,673
JBrowse link
G SMAD4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
JBrowse link
G SOX6 SRY-box transcription factor 6 ISO RGD PMID:10760285 RGD:1580857 NCBI chr21:38,737,072...39,320,257
Ensembl chr21:38,737,247...39,216,549
JBrowse link
G TNNI2 troponin I2, fast skeletal type ISO CTD Direct Evidence: marker/mechanism CTD PMID:19628585 NCBI chr18:46,076,816...46,079,362
Ensembl chr18:46,077,581...46,079,361
JBrowse link
G TTN titin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15802564 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
JBrowse link
G TUBG1 tubulin, gamma 1 ISO RGD PMID:15912881 RGD:1626306 NCBI chr 9:20,358,683...20,363,455
Ensembl chr 9:20,322,253...20,363,455
JBrowse link
G XDH xanthine dehydrogenase treatment ISO RGD PMID:9789800 RGD:13209133 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935
JBrowse link
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO OMIM NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
JBrowse link
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO OMIM NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
JBrowse link
3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar PMID:11170888 PMID:14680978 PMID:24033266 PMID:25356967 PMID:25741868 PMID:28492532 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO ClinVar Annotator: match by term: 3-MCC Deficiency ClinVar NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273
JBrowse link
Actin-Accumulation Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital myopathy with excess of thin filaments ClinVar PMID:9185179 PMID:10508519 PMID:10528865 PMID:11333380 PMID:11525890 PMID:12601110 PMID:12921789 PMID:15226407 PMID:15236405 PMID:15468086 PMID:16427282 PMID:16945536 PMID:16967490 PMID:17227580 PMID:17387733 PMID:17705262 PMID:18414213 PMID:19206168 PMID:19553121 PMID:19562689 PMID:20303757 PMID:20621480 PMID:21514153 PMID:21520333 PMID:22442437 PMID:23102861 PMID:23294764 PMID:23394784 PMID:23650303 PMID:24033266 PMID:24642510 PMID:24787270 PMID:24852243 PMID:25182138 PMID:25214167 PMID:25326635 PMID:25470062 PMID:25525159 PMID:25635128 PMID:25741868 PMID:25890230 PMID:26172852 PMID:26436962 PMID:26467025 PMID:26507755 PMID:27447704 PMID:27854218 PMID:28256728 PMID:28357410 PMID:28416349 PMID:28492532 PMID:29274205 PMID:29792937 PMID:30253894 PMID:30311386 PMID:30354303 NCBI chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530
JBrowse link
Acute Recurrent Myoglobinuria, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LPIN1 lipin 1 ISO OMIM NCBI chr17:8,348,860...8,480,447
Ensembl chr17:8,348,886...8,478,863
JBrowse link
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO OMIM NCBI chr32:32,421,648...32,439,431
Ensembl chr32:32,421,675...32,439,131
JBrowse link
G MIR302D microRNA mir-302d ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr32:32,429,032...32,429,101
Ensembl chr32:32,429,032...32,429,101
JBrowse link
G MIR367 microRNA mir-367 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr32:32,428,905...32,428,972
Ensembl chr32:32,428,905...32,428,972
JBrowse link
Alcohol Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO RGD PMID:14506614 RGD:1581765 NCBI chr 6:18,384,981...18,400,038
Ensembl chr 6:18,385,007...18,400,036
JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC16A2 solute carrier family 16 member 2 ISO OMIM NCBI chr  X:57,845,865...57,859,827
Ensembl chr  X:57,845,488...57,857,518
JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 NCBI chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility ISO DNA:missense mutation:cds:p.P1073L (3218C>T) (human) OMIM
RGD
PMID:20142534 RGD:15039298 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr 3:52,260,872...52,282,532
Ensembl chr 3:52,260,944...52,282,134
JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma ClinVar PMID:11257105 PMID:16454848 PMID:18199528 PMID:21859464 PMID:24033266 PMID:25637381 PMID:25741868 PMID:26580448 PMID:27535533 PMID:28492532 PMID:28503720 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G FOXO1 forkhead box O1 ISO OMIM NCBI chr25:603,433...706,961
Ensembl chr25:603,543...702,825
JBrowse link
G PAX3 paired box 3 ISO OMIM NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561
JBrowse link
G PAX7 paired box 7 ISO OMIM NCBI chr 2:79,813,835...79,952,490
Ensembl chr 2:79,815,748...79,915,003
JBrowse link
G TP73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
JBrowse link
G WWTR1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr23:44,277,707...44,409,911
Ensembl chr23:44,278,557...44,410,007
JBrowse link
alveolar soft part sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing ISO OMIM NCBI chr 9:308,017...331,238
Ensembl chr 9:307,028...331,243
JBrowse link
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MATR3 matrin 3 ISO OMIM NCBI chr11:26,736,728...26,790,449
Ensembl chr11:26,758,261...26,790,449
JBrowse link
Angiomatoid Fibrous Histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CREB1 cAMP responsive element binding protein 1 ISO OMIM NCBI chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556
JBrowse link
antisynthetase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1B interleukin 1 beta ISO ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
ARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190753 NCBI chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD
ClinVar
PMID:25741868 NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732
JBrowse link
Arthrogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG6 adhesion G protein-coupled receptor G6 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:26004201 PMID:26752647 NCBI chr 1:33,967,783...34,106,950
Ensembl chr 1:33,969,268...34,104,228
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16826520 PMID:16826531 NCBI chr25:44,178,149...44,183,623
Ensembl chr25:44,178,181...44,183,626
JBrowse link
G ECEL1 endothelin converting enzyme like 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:23236030 PMID:23261301 PMID:24782201 PMID:25099528 PMID:25708584 PMID:25741868 NCBI chr25:44,120,200...44,128,049
Ensembl chr25:44,120,196...44,128,046
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162
JBrowse link
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:30311386 NCBI chr 8:8,276,300...8,279,785 JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868 PMID:30311386 NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476
JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 NCBI chr 5:34,914,797...34,938,263
Ensembl chr 5:34,914,918...34,936,617
JBrowse link
G MYH8 myosin heavy chain 8 ISO Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q RGD PMID:15282353 RGD:1600548 NCBI chr 5:34,696,377...34,725,515
Ensembl chr 5:34,696,371...34,723,574
JBrowse link
G MYOD1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:31260566 NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:8423615 PMID:11152147 PMID:17345626 PMID:19571066 PMID:23487782 PMID:24649842 PMID:24726473 PMID:25712306 PMID:25741868 PMID:27607563 PMID:27653382 PMID:27714920 PMID:27912047 PMID:31680123 NCBI chr 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:30311386 PMID:31680123 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:20220177 PMID:21291453 PMID:25741868 PMID:26392352 PMID:26794302 PMID:28492532 PMID:30311386 NCBI chr 4:59,801,240...59,905,759
Ensembl chr 4:59,801,384...59,903,135
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO DNA:mutation:splice junction: RGD PMID:19542096 RGD:13209012 NCBI chr 1:42,384,136...42,831,229
Ensembl chr 1:42,384,038...42,823,388
JBrowse link
G TNNI2 troponin I2, fast skeletal type ISO distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita
RGD
ClinVar
PMID:12592607 PMID:25741868 RGD:1599481 NCBI chr18:46,076,816...46,079,362
Ensembl chr18:46,077,581...46,079,361
JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr18:46,131,925...46,148,577
Ensembl chr18:46,074,700...46,149,131
JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:11738357 PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:52,212,372...52,219,947
Ensembl chr11:52,212,401...52,219,923
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732
JBrowse link
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018 PMID:24195946 PMID:25741868 PMID:28492532 PMID:30611313 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
Arthrogryposis Multiplex Congenita 3, Myogenic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE ClinVar PMID:27782104 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO OMIM NCBI chr 1:42,384,136...42,831,229
Ensembl chr 1:42,384,038...42,823,388
JBrowse link
Arthrogryposis Multiplex Congenita 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOR1A torsin family 1 member A ISO OMIM NCBI chr 9:54,017,895...54,027,049
Ensembl chr 9:54,017,952...54,026,680
JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO OMIM NCBI chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688
JBrowse link
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC35A3 solute carrier family 35 member A3 ISO OMIM NCBI chr 6:49,954,148...49,976,260
Ensembl chr 6:49,950,821...49,976,260
JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEK9 NIMA related kinase 9 ISO OMIM NCBI chr 8:48,180,203...48,218,430
Ensembl chr 8:48,183,071...48,257,646
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 PMID:31319225 NCBI chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO OMIM NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO OMIM NCBI chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507
JBrowse link
autosomal dominant centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYOD1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:31260566 NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712
JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator ISO OMIM NCBI chr 4:88,149,250...88,263,926
Ensembl chr 4:88,149,257...88,272,464
JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:28492532 NCBI chr34:119,307...159,419
Ensembl chr34:122,274...159,394
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO OMIM NCBI chr 1:42,384,136...42,831,229
Ensembl chr 1:42,384,038...42,823,388
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYNE2 spectrin repeat containing nuclear envelope protein 2 ISO OMIM NCBI chr 8:38,373,900...38,643,544
Ensembl chr 8:38,373,964...38,643,240
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM43 transmembrane protein 43 ISO OMIM NCBI chr20:4,281,815...4,298,634
Ensembl chr20:4,281,845...4,297,069
JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH7 myosin heavy chain 7 ISO OMIM NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 ISO OMIM NCBI chr16:19,792,957...19,849,299
Ensembl chr16:19,768,639...19,848,139
JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNPO3 transportin 3 ISO OMIM NCBI chr14:7,639,276...7,722,453
Ensembl chr14:7,639,558...7,722,351
JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like ISO OMIM NCBI chr32:6,401,266...6,408,006
Ensembl chr32:6,402,762...6,407,845
JBrowse link
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO OMIM NCBI chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO OMIM NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ClinVar PMID:25741868 NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A4 solute carrier family 25 member 4 ISO OMIM NCBI chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TWNK twinkle mtDNA helicase ISO OMIM NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MILR1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ClinVar PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 NCBI chr 9:12,251,085...12,266,608
Ensembl chr 9:12,251,186...12,266,605
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO OMIM NCBI chr 9:12,258,188...12,298,376
Ensembl chr 9:12,269,990...12,298,272
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO OMIM NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNA2 DNA replication helicase/nuclease 2 ISO OMIM NCBI chr 4:19,626,001...19,683,819
Ensembl chr 4:19,626,977...19,684,660
JBrowse link
autosomal recessive centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIN1 bridging integrator 1 IEA Myopathy, Great Dane OMIA PMID:3680647 PMID:16674719 PMID:17017655 PMID:18271825 PMID:19135395 PMID:23754947 NCBI chr19:23,503,934...23,534,407
Ensembl chr19:23,375,363...23,534,303
JBrowse link
G SPEG striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601
JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO OMIM NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
JBrowse link
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
autosomal recessive hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH7 myosin heavy chain 7 ISO OMIM NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
JBrowse link
autosomal recessive limb-girdle muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:18414213 PMID:23606453 PMID:24022920 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31395899 NCBI chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822
JBrowse link
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr11:70,248,704...70,977,893
Ensembl chr11:70,249,060...71,097,833
JBrowse link
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:12461690 PMID:14578192 PMID:14981715 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17318636 PMID:18055493 PMID:18414213 PMID:18854868 PMID:18854869 PMID:19835634 PMID:20635405 PMID:21204801 PMID:21984748 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27142102 PMID:28492532 PMID:30311386 NCBI chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:9536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 PMID:17060380 PMID:17210839 PMID:17275750 PMID:19380584 PMID:20472890 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26467025 PMID:26498160 PMID:27483260 PMID:27930701 PMID:28492532 PMID:29961767 PMID:30055862 NCBI chr20:9,384,901...9,398,055
Ensembl chr20:9,384,901...9,401,196
JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:12796534 PMID:14678801 PMID:15469449 PMID:17512949 PMID:18832576 PMID:18853459 PMID:19493611 PMID:20535123 PMID:22213072 PMID:22297152 PMID:24033266 PMID:24239059 PMID:24438169 PMID:24838345 PMID:25741868 PMID:25868377 PMID:25987458 PMID:26077327 PMID:26290895 PMID:26467025 PMID:27666772 PMID:28492532 NCBI chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532 PMID:30311386 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:12920062 PMID:15205219 PMID:15475483 PMID:15998779 PMID:17377071 PMID:18414213 PMID:18549403 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19638735 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24721642 PMID:25741868 PMID:26467025 PMID:26602028 PMID:27896052 PMID:28492532 PMID:28679633 PMID:28785654 PMID:30311386 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:15466003 PMID:17869517 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:23894383 PMID:25741868 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30311386 NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:23757202 PMID:24033266 PMID:25741868 NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO DNA:missense mutation:exon:p.T184M, (c.551C>T) (human)
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
RGD
ClinVar
PMID:17923109 RGD:11532762 NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442
JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive ClinVar PMID:9032047 PMID:9192266 PMID:9585331 PMID:12746421 PMID:17994539 PMID:18285821 PMID:18421900 PMID:18996010 PMID:22095924 PMID:24033266 PMID:25135358 PMID:25741868 PMID:26404900 PMID:26453141 PMID:28492532 NCBI chr 9:26,164,784...26,178,249
Ensembl chr 9:26,164,863...26,174,864
JBrowse link
G SGCB sarcoglycan beta ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:7581449 PMID:9032047 PMID:10993494 PMID:15032976 PMID:15938573 PMID:19770540 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:44,969,483...44,987,274
Ensembl chr13:44,972,473...44,987,184
JBrowse link
G SGCD sarcoglycan delta ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:10974018 PMID:12794684 PMID:18414213 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26968544 PMID:28401079 PMID:28492532 NCBI chr 4:53,259,332...54,178,228
Ensembl chr 4:53,263,866...53,820,231
JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr25:15,300,303...15,429,555
Ensembl chr25:15,249,622...15,430,044
JBrowse link
G TRIM32 tripartite motif containing 32 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr11:70,453,130...70,465,030
Ensembl chr11:70,462,007...70,463,974
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:15466003 PMID:17869517 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:23894383 PMID:25741868 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30311386 NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:22335739 PMID:22526018 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24503780 PMID:24892279 PMID:25163546 PMID:25589632 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28822653 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA2 laminin subunit alpha 2 ISO OMIM NCBI chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914
JBrowse link
G TRAPPC11 trafficking protein particle complex 11 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 ClinVar PMID:23830518 PMID:25741868 PMID:28492532 PMID:29158550 PMID:31575891 NCBI chr16:46,687,514...46,735,909
Ensembl chr16:46,687,516...46,733,001
JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO OMIM NCBI chr23:12,094,306...12,235,491
Ensembl chr23:12,094,778...12,143,214
JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POPDC3 popeye domain containing 3 ISO OMIM NCBI chr12:62,597,020...62,615,062
Ensembl chr12:62,484,472...62,601,339
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO OMIM NCBI chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A ClinVar PMID:25326637 PMID:25741868 NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868 PMID:31263448 NCBI chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
JBrowse link
G DYSF dysferlin ISO OMIM NCBI chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868 PMID:31263448 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 ClinVar PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 PMID:29300372 NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
JBrowse link
G VDR vitamin D receptor ISO protein:increased expression:muscle: RGD PMID:27558075 RGD:13210781 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C
ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type
ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
JBrowse link
G SGCG sarcoglycan gamma ISO OMIM NCBI chr25:15,300,303...15,429,555
Ensembl chr25:15,249,622...15,430,044
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
JBrowse link
G LOC610636 tubulin alpha-1B chain ISO ClinVar Annotator: match by term: ADHALINOPATHY, PRIMARY ClinVar PMID:18414213 PMID:18728072 PMID:20466733 PMID:25741868 PMID:30744660 NCBI chr37:25,811,491...25,818,838 JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
JBrowse link
G SGCA sarcoglycan alpha treatment ISO OMIM
RGD
PMID:17653106 RGD:13605612 NCBI chr 9:26,164,784...26,178,249
Ensembl chr 9:26,164,863...26,174,864
JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr25:15,300,303...15,429,555
Ensembl chr25:15,249,622...15,430,044
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SGCB sarcoglycan beta treatment ISO OMIM
RGD
PMID:28284983 RGD:13605613 NCBI chr13:44,969,483...44,987,274
Ensembl chr13:44,972,473...44,987,184
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SGCD sarcoglycan delta ISO
IEA
Muscular dystrophy, limb-girdle, type 2F OMIM
OMIA
PMID:15474686 PMID:18371037 PMID:28702169 NCBI chr 4:53,259,332...54,178,228
Ensembl chr 4:53,263,866...53,820,231
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TCAP titin-cap ISO OMIM NCBI chr 9:22,811,792...22,812,980
Ensembl chr 9:22,794,177...22,813,012
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Sarcotubular myopathy ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 PMID:17994549 PMID:19349376 PMID:21775502 PMID:22025579 PMID:22981120 PMID:23142638 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr11:70,248,704...70,977,893
Ensembl chr11:70,249,060...71,097,833
JBrowse link
G TRIM32 tripartite motif containing 32 ISO OMIM NCBI chr11:70,453,130...70,465,030
Ensembl chr11:70,462,007...70,463,974
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein treatment ISO OMIM
RGD
PMID:25048216 RGD:11667961 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED ClinVar PMID:25741868 NCBI chr 1:109,176,955...109,203,875
Ensembl chr 1:109,176,983...109,202,591
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTN titin ISO OMIM NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307
JBrowse link
G AIF1L allograft inflammatory factor 1 like ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:52,944,925...52,966,953
Ensembl chr 9:52,947,570...52,966,894
JBrowse link
G EXOSC2 exosome component 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:53,266,396...53,276,236
Ensembl chr 9:53,266,401...53,276,677
JBrowse link
G FAM78A family with sequence similarity 78 member A ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:52,805,512...52,818,197
Ensembl chr 9:52,805,927...52,818,190
JBrowse link
G FIBCD1 fibrinogen C domain containing 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:53,073,859...53,106,266
Ensembl chr 9:53,073,027...53,103,937
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED ClinVar PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532 PMID:30311386 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:52,970,313...53,028,817
Ensembl chr 9:52,970,306...53,028,821
JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:52,840,300...52,943,785
Ensembl chr 9:52,841,096...52,947,770
JBrowse link
G PLPP7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:52,781,110...52,796,763
Ensembl chr 9:52,781,020...52,796,433
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO OMIM NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
JBrowse link
G PRDM12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:53,284,455...53,300,951
Ensembl chr 9:53,284,455...53,299,312
JBrowse link
G PRRC2B proline rich coiled-coil 2B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:52,642,916...52,702,203
Ensembl chr 9:52,528,970...52,702,203
JBrowse link
G QRFP pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:53,110,763...53,113,743
Ensembl chr 9:53,112,586...53,112,996
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 ISO OMIM NCBI chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822
JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L ClinVar PMID:16835936 PMID:19006240 PMID:25326637 PMID:25525159 PMID:25741868 PMID:26038974 PMID:28492532 NCBI chr11:17,311,238...17,551,536
Ensembl chr11:17,311,226...17,551,536
JBrowse link
G FKTN fukutin ISO DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human) RGD PMID:17044012 RGD:11576328 NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKTN fukutin ISO OMIM NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14 ClinVar PMID:18487244 PMID:21301859 PMID:21880868 PMID:22000311 PMID:22114710 PMID:22357363 PMID:24033266 PMID:24508722 PMID:25203713 PMID:25741868 PMID:26095671 PMID:27854218 PMID:27987238 PMID:28337550 PMID:28492532 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO OMIM NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO OMIM NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
ClinVar PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:30311386 PMID:30937090 PMID:30961548 NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMT aminomethyltransferase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506
JBrowse link
G C20H3orf62 chromosome 20 C3orf62 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr20:39,953,285...39,959,112
Ensembl chr20:39,953,764...39,956,754
JBrowse link
G C20H3orf84 chromosome 20 C3orf84 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr20:40,012,730...40,021,983
Ensembl chr20:40,012,854...40,021,981
JBrowse link
G CCDC71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr20:40,031,573...40,036,895
Ensembl chr20:40,033,839...40,035,416
JBrowse link
G DAG1 dystroglycan 1 ISO OMIM NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G IHO1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr20:39,964,629...40,006,726
Ensembl chr20:39,965,480...39,990,756
JBrowse link
G KLHDC8B kelch domain containing 8B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr20:40,012,797...40,027,888
Ensembl chr20:40,023,411...40,026,552
JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523
JBrowse link
G NICN1 nicolin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr20:39,810,692...39,814,354
Ensembl chr20:39,810,692...39,814,354
JBrowse link
G RHOA ras homolog family member A ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
JBrowse link
G TCTA T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr20:39,820,845...39,824,526
Ensembl chr20:39,822,211...39,824,200
JBrowse link
G USP4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr20:39,899,880...39,952,959
Ensembl chr20:39,899,897...39,952,420
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEC plectin ISO OMIM NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAPPC11 trafficking protein particle complex 11 ISO OMIM NCBI chr16:46,687,514...46,735,909
Ensembl chr16:46,687,516...46,733,001
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GMPPB GDP-mannose pyrophosphorylase B ISO OMIM NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO OMIM NCBI chr14:30,697,060...30,989,423
Ensembl chr14:30,648,128...30,989,604
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPR17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W ClinVar PMID:28492532 NCBI chr19:22,958,778...22,968,489
Ensembl chr19:22,963,363...22,964,382
JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO OMIM NCBI chr19:22,932,251...22,978,437
Ensembl chr19:22,931,779...22,982,765
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BVES blood vessel epicardial substance ISO OMIM NCBI chr12:62,542,274...62,581,110
Ensembl chr12:62,545,666...62,579,548
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Y term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC106557472 torsin-1A-interacting protein 2-like ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y ClinVar PMID:24856141 PMID:25193337 NCBI chr 7:13,411,955...13,453,366
Ensembl chr 7:13,414,910...13,435,161
JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 ISO OMIM NCBI chr 7:13,452,808...13,501,392
Ensembl chr 7:13,452,949...13,501,307
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Z term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POGLUT1 protein O-glucosyltransferase 1 ISO OMIM NCBI chr33:23,122,682...23,150,863
Ensembl chr33:23,121,563...23,148,678
JBrowse link
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO OMIM NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNASEH1 ribonuclease H1 ISO OMIM NCBI chr17:2,117,446...2,127,893
Ensembl chr17:2,117,446...2,127,893
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TK2 thymidine kinase 2 ISO OMIM NCBI chr 5:82,730,514...82,758,153
Ensembl chr 5:82,729,150...82,756,457
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DGUOK deoxyguanosine kinase ISO OMIM NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOP3A DNA topoisomerase III alpha ISO OMIM NCBI chr 5:41,262,820...41,290,101
Ensembl chr 5:41,263,017...41,290,100
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO OMIM NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr19:19,129,418...19,327,377
Ensembl chr19:19,129,081...19,325,590
JBrowse link
Axial Myopathy, Late-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Axial myopathy, late-onset ClinVar PMID:24033266 PMID:28492532 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
Becker muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin ISO OMIM NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 NCBI chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603
JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:25741868 NCBI chr24:22,636,716...22,665,828
Ensembl chr24:22,636,756...22,665,741
JBrowse link
Benign Pseudohypertrophic Muscular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:7881286 PMID:17259292 PMID:19937601 PMID:23757202 PMID:24033266 PMID:25447171 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 NCBI chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603
JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:25741868 NCBI chr24:22,636,716...22,665,828
Ensembl chr24:22,636,756...22,665,741
JBrowse link
Bethlem myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:36,720,686...36,838,321
Ensembl chr12:36,646,408...36,838,622
JBrowse link
G COL6A1 collagen type VI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
CTD
ClinVar
PMID:11865138 PMID:15689448 PMID:16130093 PMID:18414213 PMID:18852439 PMID:19949035 PMID:20302629 PMID:20981092 PMID:22426012 PMID:23040494 PMID:23564457 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:30311386 PMID:30564623 NCBI chr31:39,301,718...39,319,895
Ensembl chr31:39,301,748...39,448,062
JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD
ClinVar
PMID:12840783 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19309692 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:22992134 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24314752 PMID:24801232 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:29419890 PMID:30564623 NCBI chr31:39,433,174...39,448,051 JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
CTD
ClinVar
PMID:15563506 PMID:15689448 PMID:16935502 PMID:17785673 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:20976770 PMID:20981092 PMID:22995991 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25214167 PMID:25224718 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26467025 PMID:26872670 PMID:27854218 PMID:28492532 PMID:28688748 PMID:29970176 PMID:30487145 PMID:30564623 NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr31:39,451,557...39,464,249
Ensembl chr31:39,275,159...39,464,715
JBrowse link
Bethlem Myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACKR3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr25:47,327,921...47,339,632
Ensembl chr25:47,327,963...47,339,622
JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 NCBI chr  X:42,705,789...42,860,701
Ensembl chr  X:42,704,627...42,853,812
JBrowse link
G COL6A1 collagen type VI alpha 1 chain susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human) OMIM
RGD
PMID:8782832 RGD:1600934 NCBI chr31:39,301,718...39,319,895
Ensembl chr31:39,301,748...39,448,062
JBrowse link
G COL6A2 collagen type VI alpha 2 chain susceptibility ISO Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human) OMIM
RGD
PMID:8782832 RGD:1600934 NCBI chr31:39,433,174...39,448,051 JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO OMIM NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402
JBrowse link
G COPS8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr25:47,783,241...47,796,806 JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr31:39,451,557...39,464,249
Ensembl chr31:39,275,159...39,464,715
JBrowse link
Bethlem Myopathy 2 term browser
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 chr12:36,720,686...36,838,321
Ensembl chr12:36,646,408...36,838,622
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 6:8,664,135...8,671,637
Ensembl chr 6:8,664,358...8,671,620
JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3-3A H3.3 histone A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 7:38,797,168...38,805,417
Ensembl chr 7:38,797,448...38,805,416
JBrowse link
Brody myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO OMIM NCBI chr 6:18,384,981...18,400,038
Ensembl chr 6:18,385,007...18,400,036
JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 6:18,342,953...18,355,421
Ensembl chr 6:18,343,016...18,385,112
JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar NCBI chr 6:18,399,992...18,413,537
Ensembl chr 6:18,397,161...18,456,477
JBrowse link
G SH2B1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 6:18,370,881...18,380,965
Ensembl chr 6:18,371,832...18,380,962
JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 6:18,357,223...18,360,929
Ensembl chr 6:18,357,244...18,361,557
JBrowse link
Bruck syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKBP10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Bruck Syndrome ClinVar PMID:25741868 NCBI chr 9:21,001,227...21,009,995
Ensembl chr 9:21,001,577...21,009,927
JBrowse link
Bruck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKBP10 FKBP prolyl isomerase 10 ISO OMIM NCBI chr 9:21,001,227...21,009,995
Ensembl chr 9:21,001,577...21,009,927
JBrowse link
Bruck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO OMIM NCBI chr23:41,290,183...41,382,917
Ensembl chr23:41,290,567...41,382,807
JBrowse link
Camptocormia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:12707239 PMID:23861362 PMID:24033266 PMID:24793961 PMID:25467552 PMID:25741868 PMID:25961035 PMID:26627873 PMID:26969127 PMID:27247418 PMID:27532257 PMID:28492532 PMID:29300372 NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Camptocormism ClinVar PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 PMID:19752458 PMID:19815814 PMID:20227526 PMID:20803511 PMID:21856450 PMID:21880868 PMID:22647225 PMID:22727047 PMID:23808377 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27271921 PMID:28130605 PMID:28492532 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:17486094 PMID:21378381 NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934
JBrowse link
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYMK myomaker, myoblast fusion factor ISO OMIM NCBI chr 9:49,905,580...49,919,849
Ensembl chr 9:49,907,228...49,921,007
JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26490314 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29872718 PMID:30068732 PMID:30311386 NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 PMID:17200167 PMID:17667967 PMID:17884808 PMID:19001511 PMID:19215943 PMID:19802898 PMID:21820839 PMID:23282968 PMID:24033266 PMID:25371406 PMID:25683602 PMID:25741868 PMID:25972245 PMID:26173966 PMID:26467025 PMID:26916530 PMID:28070496 PMID:28152038 PMID:28349240 PMID:28374168 PMID:28492532 PMID:28738844 PMID:29386252 NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109
JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:12658451 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:24402737 PMID:26173966 PMID:28492532 NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRDN triadin ISO OMIM NCBI chr 1:62,402,763...62,762,717
Ensembl chr 1:62,402,642...62,762,722
JBrowse link
central core myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr32:4,143,407...4,302,194
Ensembl chr32:4,148,310...4,302,071
JBrowse link
G ATP13A4 ATPase 13A4 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr34:24,904,168...25,015,970
Ensembl chr34:24,907,503...25,015,655
JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr37:30,863,098...30,885,831
Ensembl chr37:30,867,479...30,884,895
JBrowse link
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:11139241 PMID:16123401 PMID:17964524 PMID:23049240 PMID:25741868 PMID:28492532 NCBI chr 1:108,249,911...108,261,015
Ensembl chr 1:108,249,911...108,261,010
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737
JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Shy-Magee syndrome ClinVar PMID:18414213 PMID:21990111 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:2,815,428...2,886,474
Ensembl chr15:2,859,979...2,894,425
JBrowse link
G RYR1 ryanodine receptor 1 ISO OMIM NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Myopathy, centronuclear ClinVar PMID:16227997 PMID:17008356 PMID:17932957 PMID:18414213 PMID:19130742 PMID:20227276 PMID:20529869 PMID:20700106 PMID:20817456 PMID:20858595 PMID:20927630 PMID:21221624 PMID:21762456 PMID:22096584 PMID:22369075 PMID:22396310 PMID:22613877 PMID:23338057 PMID:23394783 PMID:24016602 PMID:24088041 PMID:24135484 PMID:24366529 PMID:24465259 PMID:25262827 PMID:25326635 PMID:25492887 PMID:25501959 PMID:25741868 PMID:25957634 PMID:26199319 PMID:26273216 PMID:26467025 PMID:26633545 PMID:26842864 PMID:26908122 PMID:27343996 PMID:28492532 PMID:28676641 PMID:32860008 NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241
JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Myotubular myopathy ClinVar PMID:18414213 NCBI chr  X:118,820,644...118,917,166
Ensembl chr  X:118,820,494...118,916,368
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myotubular myopathy
ClinVar Annotator: match by term: Centronuclear myopathy
ClinVar PMID:22473935 PMID:25741868 PMID:28492532 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Myotubular myopathy
ClinVar Annotator: match by term: Centronuclear myopathy
ClinVar PMID:22335739 PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 PMID:26701604 PMID:28492532 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
JBrowse link
centronuclear myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM2 dynamin 2 ISO OMIM NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241
JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:25741868 NCBI chr  X:118,820,644...118,917,166
Ensembl chr  X:118,820,494...118,916,368
JBrowse link
G MTMR14 myotubularin related protein 14 ISO OMIM NCBI chr20:8,530,682...8,576,911
Ensembl chr20:8,530,711...8,576,913
JBrowse link
G MYF6 myogenic factor 6 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3
ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant
ClinVar PMID:11053684 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr15:23,039,090...23,041,092
Ensembl chr15:23,039,416...23,041,019
JBrowse link
G MYOD1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:31260566 NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712
JBrowse link
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr15:22,623,183...22,754,605
Ensembl chr15:22,556,295...22,753,956
JBrowse link
G PPP1R12A protein phosphatase 1 regulatory subunit 12A ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr15:22,272,291...22,413,441
Ensembl chr15:22,274,259...22,414,359
JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762
JBrowse link
centronuclear myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIN1 bridging integrator 1 ISO OMIM NCBI chr19:23,503,934...23,534,407
Ensembl chr19:23,375,363...23,534,303
JBrowse link
centronuclear myopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC78 coiled-coil domain containing 78 ISO OMIM NCBI chr 6:39,857,182...39,861,437
Ensembl chr 6:39,857,304...39,875,418
JBrowse link
centronuclear myopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10655546 PMID:11774072 PMID:11980847 PMID:14507861 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18622259 PMID:19204079 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:23028769 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25978063 PMID:27408750 PMID:27508083 PMID:27535533 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30311386 NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10862084 PMID:12552569 PMID:15060124 PMID:15863657 PMID:16944272 PMID:17726231 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G SPEG striated muscle enriched protein kinase ISO OMIM NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601
JBrowse link
centronuclear myopathy 6 with fiber-type disproportion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 ISO OMIM NCBI chr36:17,353,829...17,515,247
Ensembl chr36:17,341,300...17,514,869
JBrowse link
centronuclear myopathy X-linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD99L2 CD99 molecule like 2 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr  X:119,000,342...119,041,859
Ensembl chr  X:119,002,029...119,090,682
JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:17932957 PMID:18414213 PMID:20227276 PMID:20700106 PMID:22396310 PMID:23338057 PMID:24135484 PMID:25741868 PMID:25957634 PMID:26199319 PMID:28492532 PMID:32860008 NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241
JBrowse link
G GPR50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr  X:119,266,369...119,271,586
Ensembl chr  X:119,266,480...119,271,586
JBrowse link
G HMGB3 high mobility group box 3 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr  X:119,152,166...119,159,803
Ensembl chr  X:119,155,786...119,159,814
JBrowse link
G MTM1 myotubularin 1 ISO OMIM NCBI chr  X:118,820,644...118,917,166
Ensembl chr  X:118,820,494...118,916,368
JBrowse link
G MTMR1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr  X:118,936,865...118,999,630
Ensembl chr  X:118,937,470...118,999,920
JBrowse link
G VMA21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr  X:119,429,680...119,502,007
Ensembl chr  X:119,429,931...119,435,756
JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 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: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28284481 PMID:28337550 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29474836 PMID:29482223 PMID:29588995 PMID:30255931 PMID:30290626 PMID:30311386 PMID:30373890 PMID:30843307 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO OMIM NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO OMIM NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602
JBrowse link
G POLR1G RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:110,146,495...110,149,338
Ensembl chr 1:110,146,012...110,149,186
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTC1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts
CTD
ClinVar
PMID:22267198 PMID:22387016 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 NCBI chr 5:33,033,474...33,055,004
Ensembl chr 5:33,033,596...33,055,142
JBrowse link
G STN1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr28:16,203,607...16,246,468
Ensembl chr28:16,204,073...16,246,058
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTC1 CST telomere replication complex component 1 ISO OMIM NCBI chr 5:33,033,474...33,055,004
Ensembl chr 5:33,033,596...33,055,142
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STN1 STN1 subunit of CST complex ISO OMIM NCBI chr28:16,203,607...16,246,468
Ensembl chr28:16,204,073...16,246,058
JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO OMIM NCBI chr  X:81,150,537...81,171,521
Ensembl chr  X:81,150,536...81,212,689
JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE ClinVar PMID:25326637 PMID:28492532 NCBI chr11:17,311,238...17,551,536
Ensembl chr11:17,311,226...17,551,536
JBrowse link
G SACS sacsin molecular chaperone ISO OMIM NCBI chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr25:15,300,303...15,429,555
Ensembl chr25:15,249,622...15,430,044
JBrowse link
Childhood-Onset Spasticity with Hyperglycinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLRX5 glutaredoxin 5 ISO OMIM NCBI chr 8:64,383,203...64,392,886
Ensembl chr 8:64,383,227...64,383,841
JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3-3B H3.3 histone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 9:4,805,655...4,808,076
Ensembl chr 9:4,805,650...4,833,503
JBrowse link
chronic fatigue syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL24 C-C motif chemokine ligand 24 ISO protein:increased expression:plasma: RGD PMID:26615570 RGD:11538286 NCBI chr 6:7,166,165...7,179,606
Ensembl chr 6:7,166,479...7,180,051
JBrowse link
G CD28 CD28 molecule ISO RGD PMID:18801465 RGD:5131614 NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO protein:decreased expression:plasma: RGD PMID:26615570 RGD:11538286 NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
JBrowse link
G DISC1 DISC1 scaffold protein susceptibility ISO DNA:SNP:Cds:p.S704C(human) RGD PMID:20227423 RGD:5509831 NCBI chr 4:7,524,336...7,825,143
Ensembl chr 4:7,524,397...7,822,558
JBrowse link
G IL16 interleukin 16 ISO protein:decreased expression:plasma: RGD PMID:26615570 RGD:11538286 NCBI chr 3:56,473,485...56,575,504
Ensembl chr 3:56,473,486...56,575,104
JBrowse link
G PRF1 perforin 1 ISO RGD PMID:21619669 RGD:6482801 NCBI chr 4:21,497,865...21,502,429
Ensembl chr 4:21,498,249...21,500,864
JBrowse link
G REN renin ISO associated with Postural Orthostatic Tachycardia Syndrome; protein:increased activity:plasma (human) RGD PMID:21906029 RGD:6892702 NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012
JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:16321154 RGD:28867246 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
JBrowse link
G SLC6A4 solute carrier family 6 member 4 severity ISO DNA:repeats, haplotype:promoter:
protein:decreased expression:rostral anterior cingulate cortex (human)
DNA:repeats:promoter:
RGD PMID:14592408 PMID:15570154 PMID:26473596 RGD:11098915 RGD:36947383 RGD:38500210 NCBI chr 9:44,224,026...44,259,655
Ensembl chr 9:44,224,229...44,259,736
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:decreased expression:plasma: RGD PMID:26615570 RGD:11538286 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
chronic progressive external ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G MILR1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr 9:12,251,085...12,266,608
Ensembl chr 9:12,251,186...12,266,605
JBrowse link
G MYF5 myogenic factor 5 ISO ClinVar Annotator: match by term: Chronic progressive external ophthalmoplegia ClinVar PMID:10844060 PMID:29887215 NCBI chr15:23,049,235...23,051,604
Ensembl chr15:23,048,585...23,051,970
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)
DNA:mutations:cds:
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
CTD
RGD
PMID:11431686 PMID:12565911 PMID:12975295 PMID:16401742 PMID:17420318 PMID:17923349 RGD:737726 RGD:8694163 RGD:8694170 RGD:8694183 RGD:8694204 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr 9:12,258,188...12,298,376
Ensembl chr 9:12,269,990...12,298,272
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar PMID:21646632 PMID:21951382 NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934
JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions RGD
ClinVar
PMID:12565915 PMID:15792871 RGD:1580620 RGD:1580622 NCBI chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G TWNK twinkle mtDNA helicase susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar Annotator: match by term: Progressive external ophthalmoplegia
RGD
ClinVar
PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 PMID:19513767 PMID:20479361 PMID:20659899 PMID:20880070 PMID:25741868 PMID:26467025 PMID:28812649 RGD:1600544 NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044
JBrowse link
coenzyme Q10 deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type ClinVar PMID:24033266 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr11:50,111,003...50,155,937
Ensembl chr11:50,113,073...50,132,284
JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 PMID:17420317 PMID:17855635 PMID:20495179 PMID:23758206 PMID:24988567 PMID:25525159 PMID:25741868 PMID:27493029 PMID:28492532 NCBI chr32:7,143,476...7,162,765
Ensembl chr32:7,139,126...7,162,764
JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type ClinVar PMID:26467025 PMID:28492532 NCBI chr 7:38,085,441...38,123,037
Ensembl chr 7:38,085,885...38,122,974
JBrowse link
G COQ9 coenzyme Q9 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar NCBI chr 2:58,964,221...58,977,589
Ensembl chr 2:58,964,318...58,977,573
JBrowse link
G PDSS1 decaprenyl diphosphate synthase subunit 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar NCBI chr 2:7,059,455...7,103,178
Ensembl chr 2:7,059,683...7,101,163
JBrowse link
G PDSS2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar NCBI chr12:64,371,548...64,620,652
Ensembl chr12:64,338,950...64,620,367
JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AVIL advillin ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 ClinVar NCBI chr10:1,855,598...1,875,156
Ensembl chr10:1,856,162...1,872,303
JBrowse link
G EEF1AKMT3 EEF1A lysine methyltransferase 3 ISO OMIM NCBI chr10:1,833,759...1,842,646 JBrowse link
combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO OMIM NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 ClinVar PMID:20362274 PMID:22019070 PMID:25583628 PMID:25741868 PMID:26173962 PMID:26467025 PMID:28492532 NCBI chr  X:101,311,752...101,322,825
Ensembl chr  X:101,312,611...101,322,689
JBrowse link
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C26H12orf65 chromosome 26 C12orf65 homolog ISO OMIM NCBI chr26:6,296,859...6,310,684
Ensembl chr26:6,296,266...6,310,669
JBrowse link
G MPHOSPH9 M-phase phosphoprotein 9 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar NCBI chr26:6,308,313...6,379,937
Ensembl chr26:6,310,878...6,376,170
JBrowse link
compartment syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPX hemopexin ISO CTD Direct Evidence: therapeutic CTD PMID:14500188 NCBI chr21:29,749,913...29,759,176
Ensembl chr21:29,719,589...29,759,046
JBrowse link
Compton-North congenital myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNTN1 contactin 1 ISO OMIM NCBI chr27:12,655,021...13,005,536
Ensembl chr27:12,657,287...12,920,315
JBrowse link
Congenital Arthrogryposis with Anterior Horn Cell Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLE1 GLE1 RNA export mediator ISO OMIM NCBI chr 9:55,024,673...55,059,297
Ensembl chr 9:55,024,679...55,059,220
JBrowse link
congenital contractural arachnodactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN2 fibrillin 2 ISO OMIM NCBI chr11:17,311,238...17,551,536
Ensembl chr11:17,311,226...17,551,536
JBrowse link
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NALCN sodium leak channel, non-selective ISO OMIM NCBI chr22:50,821,983...51,142,000
Ensembl chr22:50,823,478...51,141,644
JBrowse link
congenital diaphragmatic hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chr  X:88,703,551...88,708,451
Ensembl chr  X:88,705,765...88,706,853
JBrowse link
G ATP7A ATPase copper transporting alpha ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G CBL Cbl proto-oncogene ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
JBrowse link
G CDK8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 NCBI chr25:13,043,949...13,179,752
Ensembl chr25:13,045,343...13,179,656
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:30311386 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G DES desmin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD
ClinVar
PMID:14724127 PMID:15477095 PMID:16217025 PMID:16519886 PMID:16828798 PMID:16865695 PMID:17325244 PMID:17626518 PMID:20474083 PMID:21842594 PMID:22215463 PMID:23143191 PMID:23168288 PMID:23806086 PMID:23861362 PMID:24033266 PMID:24088041 PMID:25214167 PMID:25736269 PMID:25741868 PMID:26467025 PMID:27651373 PMID:28492532 NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985
JBrowse link
G ELN elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20938900 NCBI chr 3:91,499,088...91,508,982 JBrowse link
G FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 5:66,234,336...66,296,007
Ensembl chr 5:66,294,176...66,295,693
JBrowse link
G FOXF1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr32:2,558,442...2,993,199
Ensembl chr32:2,558,354...2,991,063
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO DNA:deletion, frame shift:cds, splice junction:
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD Direct Evidence: marker/mechanism
mRNA,protein:decreased expression:diaphragm:
RGD
ClinVar
CTD
PMID:23221805 PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 PMID:26382659 RGD:11554181 RGD:11554195 NCBI chr11:35,174,390...35,338,983
Ensembl chr11:35,176,934...35,310,335
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr25:2,097,264...2,264,049
Ensembl chr25:2,102,849...2,264,456
JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23426975 NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989
JBrowse link
G GATA6 GATA binding protein 6 ISO mRNA:decreased expression:heart (rat)
ClinVar Annotator: match by term: DIH
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
RGD
ClinVar
PMID:18280291 PMID:22158542 PMID:24385578 PMID:25326637 RGD:9068407 NCBI chr 7:65,932,114...65,962,574 JBrowse link
G GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132
JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G IGFBP5 insulin like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chr37:23,575,265...23,596,970
Ensembl chr37:23,579,841...23,596,870
JBrowse link
G INSR insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
JBrowse link
G KCNQ5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr12:34,872,514...35,364,794
Ensembl chr12:34,872,581...35,362,349
JBrowse link
G KIF7 kinesin family member 7 ISO mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme; RGD PMID:25921351 RGD:11553839 NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 PMID:24728327 PMID:25605252 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26467025 PMID:28492532 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 PMID:31834374 NCBI chr26:21,216,912...21,261,518
Ensembl chr26:21,216,837...21,261,031
JBrowse link
G MYOD1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G PAX3 paired box 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:8589691 PMID:8863157 PMID:9584079 PMID:9856573 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25736269 PMID:25741868 PMID:26467025 PMID:29407415 NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561
JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr12:6,213,504...6,217,933
Ensembl chr12:6,211,867...6,217,933
JBrowse link
G RHOA ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 5:9,546,830...9,561,342
Ensembl chr 5:9,547,047...9,561,702
JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
G SOD2 superoxide dismutase 2 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G WDR26 WD repeat domain 26 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:30311386 NCBI chr 7:39,968,183...40,003,221
Ensembl chr 7:39,967,576...39,997,853
JBrowse link
G WNT11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr21:22,442,496...22,463,040
Ensembl chr21:22,446,051...22,463,173
JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21072664 NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
JBrowse link
G ZC3H7B zinc finger CCCH-type containing 7B ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr10:23,882,379...23,944,850
Ensembl chr10:23,884,981...23,920,131
JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:30311386 NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322
JBrowse link
Congenital Disorder of Glycosylation Type 1O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO OMIM NCBI chr 7:42,368,898...42,369,686 JBrowse link
congenital fiber-type disproportion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO OMIM NCBI chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 PMID:7581410 PMID:7662452 PMID:7731997 PMID:7848420 PMID:8186698 PMID:8254035 PMID:8268932 PMID:9105042 PMID:9140839 PMID:9826622 PMID:9835779 PMID:10024460 PMID:10065021 PMID:10328076 PMID:10521296 PMID:10725281 PMID:10750581 PMID:10882745 PMID:11133230 PMID:11186938 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11861410 PMID:11861413 PMID:11968089 PMID:12081993 PMID:12707239 PMID:12818575 PMID:12820698 PMID:12975413 PMID:15010274 PMID:15136674 PMID:15358028 PMID:15483641 PMID:15528230 PMID:15563892 PMID:15856146 PMID:15858117 PMID:16199542 PMID:16267253 PMID:16630449 PMID:16858239 PMID:16918501 PMID:17125710 PMID:17438619 PMID:17560888 PMID:17612745 PMID:18029407 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18761664 PMID:19150014 PMID:19880069 PMID:20031618 PMID:20350521 PMID:20800588 PMID:21239446 PMID:21310275 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22429680 PMID:22455086 PMID:22857948 PMID:23054336 PMID:23197161 PMID:23233322 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23396983 PMID:23403236 PMID:23549607 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23751935 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24691700 PMID:24704860 PMID:24793961 PMID:25031304 PMID:25132132 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25714468 PMID:25741868 PMID:25937619 PMID:26573135 PMID:26743238 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27974200 PMID:28138913 PMID:28193612 PMID:28241245 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28606303 PMID:28615295 PMID:28790153 PMID:29121657 PMID:29212898 PMID:29300372 PMID:30297972 PMID:30511546 PMID:31333075 PMID:31568572 NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion
ClinVar Annotator: match by term: Congenital fiber-type disproportion
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar PMID:1743490 PMID:4149045 PMID:8661021 PMID:9199552 PMID:10097181 PMID:11274444 PMID:11709545 PMID:11741831 PMID:12123492 PMID:12642598 PMID:15175001 PMID:15210166 PMID:15221887 PMID:16084090 PMID:16163667 PMID:16380615 PMID:16621918 PMID:16917943 PMID:17033962 PMID:17081152 PMID:17483490 PMID:18253926 PMID:18414213 PMID:18564801 PMID:18765655 PMID:19191333 PMID:19648156 PMID:19825159 PMID:20583297 PMID:20681998 PMID:20839240 PMID:20888934 PMID:21062345 PMID:21674524 PMID:21825032 PMID:22203976 PMID:22473935 PMID:22992668 PMID:23329375 PMID:23394784 PMID:23553484 PMID:23558838 PMID:23826317 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24361844 PMID:24433488 PMID:24561095 PMID:24950660 PMID:25084811 PMID:25214167 PMID:25256590 PMID:25326635 PMID:25658027 PMID:25735680 PMID:25741868 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25989378 PMID:26633545 PMID:27854218 PMID:27857962 PMID:28224104 PMID:28259615 PMID:28403410 PMID:28492532 PMID:28818389 PMID:29172004 PMID:30155738 PMID:30236257 PMID:30611313 PMID:30788618 PMID:31055738 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Severe neonatal hypotonia improving with age ClinVar PMID:25326635 PMID:25741868 NCBI chr 9:11,849,066...11,893,689
Ensembl chr 9:11,851,347...11,877,767
JBrowse link
G SELENON selenoprotein N ISO OMIM NCBI chr 2:74,134,448...74,149,585 JBrowse link
G TPM3 tropomyosin 3 ISO OMIM NCBI chr 7:43,039,360...43,067,297
Ensembl chr 7:43,039,382...43,067,296
JBrowse link
congenital merosin-deficient muscular dystrophy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCHE butyrylcholinesterase ISO RGD PMID:12383920 RGD:5688132 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
JBrowse link
G LAMA2 laminin subunit alpha 2 treatment ISO OMIM
RGD
PMID:28714989 RGD:13605609 NCBI chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914
JBrowse link
congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17318636 PMID:20635405 PMID:21204801 PMID:21984748 PMID:25741868 PMID:26467025 PMID:27142102 PMID:28492532 PMID:30311386 NCBI chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29260090 PMID:29382405 NCBI chr14:30,697,060...30,989,423
Ensembl chr14:30,648,128...30,989,604
JBrowse link
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar NCBI chr10:29,875,381...30,396,934
Ensembl chr10:29,919,521...30,395,787
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:15770669 PMID:25741868 PMID:26467025 PMID:26900797 PMID:28492532 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr19:52,720,427...52,921,064
Ensembl chr19:52,569,894...52,919,792
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
ClinVar Annotator: match by term: Congenital muscular dystrophy
ClinVar PMID:15466003 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:24033266 PMID:24123366 PMID:25326635 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30311386 PMID:30961548 NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:23757202 PMID:24033266 NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442
JBrowse link
G RIF1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr19:52,661,278...52,711,969
Ensembl chr19:52,661,155...52,709,279
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 PMID:23329375 PMID:23394784 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27058611 PMID:27147545 PMID:27153395 PMID:28492532 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
ClinVar Annotator: match by term: Congenital muscular dystrophy
ClinVar PMID:15466003 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:24033266 PMID:24123366 PMID:25326635 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30311386 PMID:30961548 NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
JBrowse link
congenital muscular dystrophy due to integrin alpha-7 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency ClinVar PMID:25741868 NCBI chr14:30,697,060...30,989,423
Ensembl chr14:30,648,128...30,989,604
JBrowse link
G ITGA7 integrin subunit alpha 7 ISO OMIM NCBI chr10:91,782...110,839
Ensembl chr10:91,391...110,817
JBrowse link
congenital muscular dystrophy due to LMNA mutation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency ClinVar PMID:8957020 PMID:9158149 PMID:9541105 PMID:9674786 PMID:10611118 PMID:10852549 PMID:11071490 PMID:12100448 PMID:12552556 PMID:18414213 PMID:20207543 PMID:21520333 PMID:21896784 PMID:21953594 PMID:22166137 PMID:22426012 PMID:23326386 PMID:24082139 PMID:24223650 PMID:24225367 PMID:24611677 PMID:24957499 PMID:25525159 PMID:25587058 PMID:25741868 PMID:26467025 PMID:26607181 PMID:27159402 PMID:27353517 PMID:27854218 PMID:27896284 PMID:28182637 PMID:28492532 PMID:28688748 PMID:29706646 PMID:30055037 PMID:30301903 PMID:30827497 NCBI chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914
JBrowse link
congenital muscular dystrophy with cataracts and intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INPP5K inositol polyphosphate-5-phosphatase K ISO OMIM NCBI chr 9:45,660,445...45,680,407
Ensembl chr 9:45,660,446...45,680,363
JBrowse link
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKTN fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26923585 PMID:27065010 PMID:28492532 PMID:30060766 NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
JBrowse link
Congenital Muscular Dystrophy, Davignon-Chauveau Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIP4 thyroid hormone receptor interactor 4 ISO OMIM NCBI chr30:28,851,314...28,908,991
Ensembl chr30:28,851,374...28,908,940
JBrowse link
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GMPPB GDP-mannose pyrophosphorylase B ISO OMIM NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045
JBrowse link
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKMY2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr14:31,117,375...31,153,916
Ensembl chr14:31,118,013...31,153,874
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G BZW2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr14:31,154,285...31,217,193
Ensembl chr14:31,153,659...31,216,911
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G CRPPA CDP-L-ribitol pyrophosphorylase A ISO OMIM NCBI chr14:30,697,060...30,989,423
Ensembl chr14:30,648,128...30,989,604
JBrowse link
G LRRC72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr14:31,079,128...31,112,986
Ensembl chr14:31,079,220...31,112,982
JBrowse link
G SOSTDC1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr14:31,022,599...31,027,155
Ensembl chr14:31,022,766...31,026,737
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congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s)