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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:muscle tissue disease
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Accession:DOID:66 term browser browse the term
Definition:A muscular disease located in the muscle tissue. (DO)
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO OMIM NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284 		JBrowse link
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO OMIM NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106 		JBrowse link
3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency		 ClinVar PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 More... NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency		 ClinVar PMID:11181649 PMID:16010683 PMID:16835865 PMID:17908719 PMID:20818363 More... NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106 		JBrowse link
Actin-Accumulation Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital myopathy with excess of thin filaments ClinVar PMID:9185179 PMID:10508519 NCBI chr 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469 		JBrowse link
Acute Recurrent Myoglobinuria, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LPIN1 lipin 1 ISO OMIM NCBI chr2A:11,664,727...11,815,497
Ensembl chr2A:11,857,961...11,961,551 		JBrowse link
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077 		JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO OMIM NCBI chr 4:105,128,335...105,149,498
Ensembl chr 4:115,698,093...115,711,003 		JBrowse link
Alcohol Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO RGD PMID:14506614 RGD:1581765 Ensembl chr16:29,265,516...29,290,807
Ensembl chr16:29,265,516...29,290,807 		JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC16A2 solute carrier family 16 member 2 ISO OMIM NCBI chr  X:63,673,992...63,787,011
Ensembl chr  X:73,791,200...73,903,727 		JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919 		JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398 		JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: 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 More... NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility ISO DNA:missense mutation:cds:p.P1073L (3218C>T) (human) OMIM
RGD		 PMID:20142534 RGD:15039298 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:18546365 PMID:21447491 PMID:23430898 More... NCBI chr15:67,901,276...67,913,911
Ensembl chr15:87,108,815...87,117,971 		JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXO1 forkhead box O1 ISO OMIM NCBI chr13:21,763,729...21,874,279 JBrowse link
G PAX3 paired box 3 ISO OMIM NCBI chr2B:109,441,938...109,541,449
Ensembl chr2B:228,022,453...228,121,874 		JBrowse link
G PAX7 paired box 7 ISO OMIM NCBI chr 1:17,589,513...17,707,442
Ensembl chr 1:18,639,641...18,756,952 		JBrowse link
G TP73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206 		JBrowse link
G WWTR1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 3:146,536,564...146,678,847
Ensembl chr 3:154,114,034...154,254,490 		JBrowse link
alveolar soft part sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing ISO OMIM NCBI chr17:76,381,000...76,422,189
Ensembl chr17:82,084,873...82,127,492 		JBrowse link
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MATR3 matrin 3 ISO OMIM NCBI chr 5:134,664,893...134,702,566 JBrowse link
Angiomatoid Fibrous Histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CREB1 cAMP responsive element binding protein 1 ISO OMIM NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130 		JBrowse link
antisynthetase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1B interleukin 1 beta ISO ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018 PMID:24195946 PMID:25741868 PMID:28492532 PMID:30611313 NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES		 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO OMIM NCBI chr 6:149,936,306...150,454,822
Ensembl chr 6:154,627,904...155,144,076 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYNE2 spectrin repeat containing nuclear envelope protein 2 ISO OMIM NCBI chr14:44,438,851...44,807,710
Ensembl chr14:62,751,560...63,064,136 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM43 transmembrane protein 43 ISO OMIM NCBI chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587 		JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100978529 myosin-7 ISO OMIM NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763 		JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 ISO OMIM NCBI chr 7:148,952,823...149,034,578
Ensembl chr 7:160,646,321...160,726,447 		JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNPO3 transportin 3 ISO OMIM NCBI chr 7:120,906,238...121,008,216
Ensembl chr 7:133,430,490...133,531,774 		JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like ISO OMIM NCBI chr 4:41,771,512...41,777,135
Ensembl chr 4:47,621,973...47,628,885 		JBrowse link
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100984344 calpain-3 ISO OMIM NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820 		JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO OMIM NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ClinVar PMID:25741868 NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A4 solute carrier family 25 member 4 ISO OMIM NCBI chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TWNK twinkle mtDNA helicase ISO OMIM NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MILR1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ClinVar PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 More... NCBI chr17:58,546,046...58,570,679
Ensembl chr17:63,638,549...63,663,193 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO OMIM NCBI chr17:58,574,442...58,593,915
Ensembl chr17:63,667,246...63,686,503 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO OMIM NCBI chr 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNA2 DNA replication helicase/nuclease 2 ISO OMIM NCBI chr10:64,898,024...64,956,541
Ensembl chr10:67,207,261...67,264,257 		JBrowse link
autosomal recessive centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIN1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism
Myopathy, Great Dane		 CTD
OMIA		 PMID:3680647 PMID:16674719 PMID:17017655 PMID:18271825 PMID:19135395 More... NCBI chr2B:33,168,767...33,228,075
Ensembl chr2B:127,716,550...127,775,378 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr2B:106,692,222...106,750,922
Ensembl chr2B:225,282,676...225,339,910 		JBrowse link
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539 		JBrowse link
autosomal recessive hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100978529 myosin-7 ISO OMIM NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive		 ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:23606453 PMID:24022920 More... NCBI chr11:22,201,694...22,295,781
Ensembl chr11:22,112,482...22,206,637 		JBrowse link
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 9:87,558,337...88,538,570
Ensembl chr 9:115,912,657...116,890,931 		JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:9536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr 3:8,684,829...8,697,731
Ensembl chr 3:8,928,069...8,940,942 		JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive		 ClinVar PMID:12796534 PMID:14678801 PMID:15469449 PMID:17512949 PMID:18832576 More... NCBI chr2A:71,495,573...71,730,073
Ensembl chr2A:72,994,888...73,228,846 		JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:12920062 PMID:15475483 PMID:15998779 PMID:17377071 PMID:18414213 More... NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539 		JBrowse link
G LOC100984344 calpain-3 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:12461690 More... NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive		 ClinVar PMID:17559086 PMID:22323514 PMID:23757202 PMID:24033266 PMID:25741868 More... NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO DNA:missense mutation:exon:p.T184M, (c.551C>T) (human)
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive		 RGD
ClinVar		 PMID:17923109 RGD:11532762 NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553 		JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive ClinVar PMID:9032047 PMID:9192266 PMID:9585331 PMID:12746421 PMID:17994539 More... NCBI chr17:44,255,807...44,266,182
Ensembl chr17:49,130,332...49,141,188 		JBrowse link
G SGCB sarcoglycan beta ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:7581449 PMID:9032047 PMID:10993494 PMID:15032976 PMID:15938573 More... NCBI chr 4:71,924,051...71,942,642
Ensembl chr 4:78,476,969...78,491,156 		JBrowse link
G SGCD sarcoglycan delta ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:10974018 PMID:12794684 PMID:18414213 PMID:23861362 PMID:24033266 More... NCBI chr 5:151,131,909...152,164,077
Ensembl chr 5:157,719,540...158,139,633 		JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive		 ClinVar PMID:16199547 PMID:18285821 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr13:4,471,680...4,638,419
Ensembl chr13:22,810,771...22,932,350 		JBrowse link
G TRIM32 tripartite motif containing 32 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 9:87,819,723...87,838,684
Ensembl chr 9:116,183,746...116,185,707 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive		 ClinVar PMID:9536098 PMID:17576681 PMID:18948003 PMID:22335739 PMID:22526018 More... NCBI chr2B:65,783,512...66,064,618 JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA2 laminin subunit alpha 2 ISO OMIM NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23		 ClinVar PMID:9536098 PMID:17576681 PMID:23830518 PMID:25741868 PMID:28492532 More... NCBI chr 4:175,836,327...175,890,641
Ensembl chr 4:188,062,815...188,116,535 		JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO OMIM NCBI chr 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557 		JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POPDC3 popeye domain containing 3 ISO OMIM NCBI chr 6:102,972,263...102,993,986
Ensembl chr 6:106,846,329...106,850,599 		JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAG2 jagged canonical Notch ligand 2 ISO OMIM NCBI chr14:85,785,586...85,812,056
Ensembl chr14:105,569,837...105,585,878 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100984344 calpain-3 ISO OMIM NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYSF dysferlin ISO OMIM NCBI chr2A:71,495,573...71,730,073
Ensembl chr2A:72,994,888...73,228,846 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868 PMID:31263448 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539 		JBrowse link
G LOC100984344 calpain-3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868 PMID:31263448 NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820 		JBrowse link
G VDR vitamin D receptor ISO protein:increased expression:muscle: RGD PMID:27558075 RGD:13210781 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C
ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type		 ClinVar PMID:18285821 PMID:18398442 PMID:18414213 PMID:19031088 PMID:19208398 More... NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553 		JBrowse link
G SGCG sarcoglycan gamma ISO OMIM NCBI chr13:4,471,680...4,638,419
Ensembl chr13:22,810,771...22,932,350 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553 		JBrowse link
G SGCA sarcoglycan alpha treatment ISO OMIM
RGD		 PMID:17653106 RGD:13605612 NCBI chr17:44,255,807...44,266,182
Ensembl chr17:49,130,332...49,141,188 		JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:4,471,680...4,638,419
Ensembl chr13:22,810,771...22,932,350 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SGCB sarcoglycan beta treatment ISO OMIM
RGD		 PMID:28284983 RGD:13605613 NCBI chr 4:71,924,051...71,942,642
Ensembl chr 4:78,476,969...78,491,156 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SGCD sarcoglycan delta ISO OMIM NCBI chr 5:151,131,909...152,164,077
Ensembl chr 5:157,719,540...158,139,633 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TCAP titin-cap ISO OMIM NCBI chr17:17,622,318...17,625,252
Ensembl chr17:17,839,139...17,842,727 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Sarcotubular myopathy ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 9:87,558,337...88,538,570
Ensembl chr 9:115,912,657...116,890,931 		JBrowse link
G TRIM32 tripartite motif containing 32 ISO OMIM NCBI chr 9:87,819,723...87,838,684
Ensembl chr 9:116,183,746...116,185,707 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein treatment ISO OMIM
RGD		 PMID:25048216 RGD:11667961 NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341 		JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED ClinVar PMID:25741868 NCBI chr19:43,711,834...43,738,742
Ensembl chr19:52,240,880...52,260,241 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTN titin ISO OMIM NCBI chr2B:65,783,512...66,064,618 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941 		JBrowse link
G AIF1L allograft inflammatory factor 1 like ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,218,242...102,244,846
Ensembl chr 9:130,863,031...130,891,744 		JBrowse link
G EXOSC2 exosome component 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:101,815,368...101,826,464
Ensembl chr 9:130,464,487...130,475,719 		JBrowse link
G FAM78A family with sequence similarity 78 member A ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,380,073...102,399,992
Ensembl chr 9:131,024,410...131,042,975 		JBrowse link
G FIBCD1 fibrinogen C domain containing 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,018,681...102,058,898
Ensembl chr 9:130,668,147...130,695,731 		JBrowse link
G LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,131,594...102,213,829
Ensembl chr 9:130,777,182...130,861,292 		JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,246,575...102,355,291
Ensembl chr 9:130,893,110...131,001,305 		JBrowse link
G PLPP7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,411,095...102,431,146
Ensembl chr 9:131,055,406...131,073,474 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO OMIM NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881 		JBrowse link
G PRDM12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:101,786,052...101,803,287 JBrowse link
G PRRC2B proline rich coiled-coil 2B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,516,585...102,622,588
Ensembl chr 9:131,193,641...131,262,894 		JBrowse link
G QRFP pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:102,008,900...102,013,194
Ensembl chr 9:130,659,140...130,659,550 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 ISO OMIM NCBI chr11:22,201,694...22,295,781
Ensembl chr11:22,112,482...22,206,637 		JBrowse link
G FKTN fukutin ISO DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human) RGD PMID:17044012 RGD:11576328 NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
Ensembl chr 9:104,849,496...104,925,422 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKTN fukutin ISO OMIM NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
Ensembl chr 9:104,849,496...104,925,422 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14 ClinVar PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO OMIM NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO OMIM NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12849864 PMID:15236414 More... NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMT aminomethyltransferase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,344,590...49,350,383
Ensembl chr 3:50,589,193...50,594,968 		JBrowse link
G C3H3orf62 chromosome 3 C3orf62 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,191,640...49,199,806
Ensembl chr 3:50,273,460...50,279,995 		JBrowse link
G C3H3orf84 chromosome 3 C3orf84 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,100,962...49,115,215
Ensembl chr 3:50,180,907...50,195,215 		JBrowse link
G CCDC71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,085,870...49,089,723 JBrowse link
G DAG1 dystroglycan 1 ISO OMIM NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		JBrowse link
G IHO1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,122,120...49,181,228
Ensembl chr 3:50,239,250...50,259,890 		JBrowse link
G KLHDC8B kelch domain containing 8B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,094,203...49,099,818
Ensembl chr 3:50,174,393...50,179,759 		JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074 		JBrowse link
G LOC100967331 ubiquitin carboxyl-terminal hydrolase 4 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,199,328...49,263,861
Ensembl chr 3:50,279,642...50,343,903 		JBrowse link
G NICN1 nicolin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,350,753...49,357,161
Ensembl chr 3:50,595,232...50,601,612 		JBrowse link
G RHOA ras homolog family member A ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,282,009...49,339,887 JBrowse link
G TCTA T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 3:49,340,010...49,344,288 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEC plectin ISO OMIM NCBI chr 8:140,681,252...140,742,753
Ensembl chr 8:143,674,696...143,712,433 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAPPC11 trafficking protein particle complex subunit 11 ISO OMIM NCBI chr 4:175,836,327...175,890,641
Ensembl chr 4:188,062,815...188,116,535 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GMPPB GDP-mannose pyrophosphorylase B ISO OMIM NCBI chr 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO OMIM NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPR17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:32,623,444...32,630,256
Ensembl chr2B:128,316,464...128,321,519 		JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO OMIM NCBI chr2B:32,594,330...32,637,697
Ensembl chr2B:128,304,799...128,347,951 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BVES blood vessel epicardial substance ISO OMIM NCBI chr 6:102,915,148...102,951,141
Ensembl chr 6:106,787,615...106,822,050 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Y term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOR1AIP1 torsin 1A interacting protein 1 ISO OMIM NCBI chr 1:155,362,806...155,401,185
Ensembl chr 1:159,043,072...159,081,408 		JBrowse link
G TOR1AIP2 torsin 1A interacting protein 2 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y ClinVar PMID:24856141 PMID:25193337 NCBI chr 1:155,321,181...155,358,966
Ensembl chr 1:159,005,944...159,039,058 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Z term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POGLUT1 protein O-glucosyltransferase 1 ISO OMIM NCBI chr 3:116,591,271...116,617,382
Ensembl chr 3:123,503,899...123,529,919 		JBrowse link
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO OMIM NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNASEH1 ribonuclease H1 ISO OMIM NCBI chr2A:3,550,303...3,578,161
Ensembl chr2A:3,482,772...3,496,978 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TK2 thymidine kinase 2 ISO OMIM NCBI chr16:46,793,679...46,868,508
Ensembl chr16:65,928,102...65,970,315 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DGUOK deoxyguanosine kinase ISO OMIM NCBI chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOP3A DNA topoisomerase III alpha ISO OMIM NCBI chr17:32,814,448...32,858,076
Ensembl chr17:37,897,037...37,936,135 		JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 6:1,429,051...1,433,180 JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474 		JBrowse link
G PITX2 paired like homeodomain 2 ISO OMIM NCBI chr 4:103,112,624...103,137,356 JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:112,896,606...113,127,400
Ensembl chr 4:124,036,911...124,252,928 		JBrowse link
Becker muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin ISO OMIM NCBI chr  X:23,728,650...26,338,849
Ensembl chr  X:31,282,415...33,492,733 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998 		JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:25741868 NCBI chr20:29,696,137...29,732,258
Ensembl chr20:30,810,787...30,844,476 		JBrowse link
Bethlem myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:72,927,897...73,049,168
Ensembl chr 6:76,219,319...76,340,496 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Collagen VI-related myopathy		 CTD
ClinVar		 PMID:7695699 PMID:8218237 PMID:9536098 PMID:11707460 PMID:15689448 More... NCBI chr21:32,322,185...32,346,850
Ensembl chr21:45,584,096...45,607,240 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Bethlem myopathy		 CTD
ClinVar		 PMID:12840783 PMID:15689448 PMID:16130093 PMID:16199547 PMID:16935502 More... NCBI chr21:32,442,859...32,478,076
Ensembl chr21:45,710,491...45,730,895 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital		 CTD
ClinVar		 PMID:9536098 PMID:15563506 PMID:15689448 PMID:16935502 PMID:17576681 More... NCBI chr2B:124,554,478...124,644,482 JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400 		JBrowse link
Bethlem Myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACKR3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:123,795,664...123,810,067
Ensembl chr2B:242,666,173...242,667,261 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 PMID:28492532 NCBI chr  X:42,137,523...42,299,716
Ensembl chr  X:49,854,165...50,006,363 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human) OMIM
RGD		 PMID:8782832 RGD:1600934 NCBI chr21:32,322,185...32,346,850
Ensembl chr21:45,584,096...45,607,240 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain susceptibility ISO Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human) OMIM
RGD		 PMID:8782832 RGD:1600934 NCBI chr21:32,442,859...32,478,076
Ensembl chr21:45,710,491...45,730,895 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO OMIM NCBI chr2B:124,554,478...124,644,482 JBrowse link
G COPS8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr2B:124,315,423...124,328,830
Ensembl chr2B:243,169,322...243,182,937 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400 		JBrowse link
Bethlem Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain ISO OMIM NCBI chr 6:72,927,897...73,049,168
Ensembl chr 6:76,219,319...76,340,496 		JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100970414 histone H3.3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 1:201,523,670...201,533,005
Ensembl chr 1:206,520,109...206,529,447 		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 Ensembl chr16:29,265,516...29,290,807
Ensembl chr16:29,265,516...29,290,807 		JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 Ensembl chr16:29,209,115...29,226,239 JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:17882224 PMID:23911890 PMID:24707176 More... Ensembl chr16:29,289,949...29,314,177 JBrowse link
G SH2B1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 Ensembl chr16:29,249,597...29,263,334 JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 Ensembl chr16:29,227,852...29,233,513 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 Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA		 ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... NCBI chr 5:192,786...234,089 JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736 		JBrowse link
central core disease 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 chr 4:44,124,282...44,284,949
Ensembl chr 4:49,972,472...50,132,738 		JBrowse link
G ATP13A4 ATPase 13A4 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr 3:190,695,422...190,890,175
Ensembl chr 3:201,017,018...201,169,286 		JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:21990111 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:5,587,875...5,606,883
Ensembl chr 8:1,658,694...1,700,754 		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 More... NCBI chr19:44,828,119...44,856,284 JBrowse link
G MEFV MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970 		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 chr 1:39,358,424...39,383,087
Ensembl chr 1:40,683,841...40,708,609 		JBrowse link
G RYR1 ryanodine receptor 1 ISO OMIM NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		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 Annotator: match by term: Centronuclear myopathy		 ClinVar PMID:16227997 PMID:17008356 PMID:17932957 PMID:18414213 PMID:19130742 More... NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478 		JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Myotubular myopathy ClinVar PMID:18414213 NCBI chr  X:140,218,742...140,323,495
Ensembl chr  X:150,174,758...150,255,381 		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 chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		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 More... NCBI chr2B:65,783,512...66,064,618 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 chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478 		JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:25741868 NCBI chr  X:140,218,742...140,323,495
Ensembl chr  X:150,174,758...150,255,381 		JBrowse link
G MTMR14 myotubularin related protein 14 ISO OMIM NCBI chr 3:9,600,866...9,653,860
Ensembl chr 3:9,839,821...9,892,055 		JBrowse link
G MYF6 myogenic factor 6 ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant
ClinVar Annotator: match by term: Myopathy, centronuclear, 3		 ClinVar PMID:9536098 PMID:11053684 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr12:78,226,562...78,229,470
Ensembl chr12:81,338,339...81,340,176 		JBrowse link
G MYOD1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:31260566 NCBI chr11:17,772,317...17,774,884
Ensembl chr11:17,456,124...17,458,690 		JBrowse link
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr12:77,630,854...77,894,894
Ensembl chr12:80,845,643...81,005,480 		JBrowse link
G PPP1R12A protein phosphatase 1 regulatory subunit 12A ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr12:77,306,155...77,459,455
Ensembl chr12:80,155,702...80,314,601 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr12:77,957,758...78,200,206
Ensembl chr12:81,068,545...81,310,857 		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 chr2B:33,168,767...33,228,075
Ensembl chr2B:127,716,550...127,775,378 		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 Ensembl chr16:735,974...739,572 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 More... NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824 		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 More... NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO OMIM NCBI chr2B:106,692,222...106,750,922
Ensembl chr2B:225,282,676...225,339,910 		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 chr2B:60,362,635...60,555,445
Ensembl chr2B:177,818,344...178,010,556 		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:140,416,510...140,548,193 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 More... NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478 		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:140,785,028...140,791,325
Ensembl chr  X:150,742,959...150,749,652 		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:140,632,163...140,639,774 JBrowse link
G MTM1 myotubularin 1 ISO OMIM NCBI chr  X:140,218,742...140,323,495
Ensembl chr  X:150,174,758...150,255,381 		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:140,343,740...140,415,134
Ensembl chr  X:150,279,183...150,346,900 		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:140,995,525...141,008,351 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 More... NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1858914 PMID:9536098 PMID:11431686 PMID:11571332 More... NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		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:96,720,988...96,743,594
Ensembl chr  X:107,094,898...107,117,117 		JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100988671 histone H3.3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr17:69,728,165...69,730,519
Ensembl chr17:75,277,614...75,281,106 		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 chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		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 chr17:58,546,046...58,570,679
Ensembl chr17:63,638,549...63,663,193 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism
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)
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)		 CTD
RGD		 PMID:11431686 PMID:12565911 PMID:12975295 PMID:16401742 PMID:17420318 More... RGD:737726 RGD:8694163 RGD:8694170 RGD:8694183 RGD:8694204 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions		 ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr17:58,574,442...58,593,915
Ensembl chr17:63,667,246...63,686,503 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar Annotator: match by term: Progressive external ophthalmoplegia		 ClinVar PMID:21646632 PMID:21951382 PMID:24741716 NCBI chr 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056 		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 chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr21:18,029,831...18,037,526 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		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 with Mitochondrial DNA Deletions		 RGD
ClinVar		 PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 More... RGD:1600544 NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407 		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 PMID:25741868 NCBI chr12:31,108,569...31,129,307
Ensembl chr12:31,369,872...31,389,847 		JBrowse link
G SMAD3 SMAD family member 3 ISO ClinVar Annotator: match by term: ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS ClinVar PMID:22167769 PMID:25326637 PMID:28492532 PMID:30661052 NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185 		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:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271 		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 More... NCBI chr  X:119,298,428...119,311,625
Ensembl chr  X:129,591,222...129,605,214 		JBrowse link
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPHOSPH9 M-phase phosphoprotein 9 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar NCBI chr12:120,755,760...120,831,536
Ensembl chr12:124,991,210...125,065,203 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO OMIM NCBI chr12:120,831,264...120,856,215
Ensembl chr12:125,064,881...125,089,615 		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 chr12:47,630,295...48,014,766
Ensembl chr12:48,492,564...48,670,126 		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 chr 5:123,673,209...123,953,741
Ensembl chr 5:129,435,248...129,715,711 		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 1:130,487,584...130,488,330
Ensembl chr 1:134,096,219...134,096,587 		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 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469 		JBrowse link
G LOC100978529 myosin-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:1472461 PMID:1552912 PMID:1638703 PMID:1944483 More... NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763 		JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion ClinVar PMID:25741868 PMID:32453731 PMID:33731536 NCBI chr12:108,479,941...108,489,739
Ensembl chr12:111,873,270...111,883,047 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar Annotator: match by term: Congenital fiber-type disproportion		 ClinVar PMID:16940 PMID:18253 PMID:1743490 PMID:4149045 PMID:7299413 More... NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		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 chr17:58,034,146...58,066,644
Ensembl chr17:63,128,550...63,161,043 		JBrowse link
G SELENON selenoprotein N ISO OMIM NCBI chr 1:25,058,907...25,076,817
Ensembl chr 1:26,127,125...26,141,745 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion ClinVar PMID:25741868 NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394 		JBrowse link
G TPM3 tropomyosin 3 ISO OMIM NCBI chr 1:129,511,914...129,538,703
Ensembl chr 1:133,126,641...133,161,894 		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 AARS1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, merosin-deficient 1A ClinVar PMID:25326637 PMID:28492532 NCBI chr16:54,727,601...54,763,458
Ensembl chr16:70,086,735...70,121,902 		JBrowse link
G BCHE butyrylcholinesterase ISO RGD PMID:12383920 RGD:5688132 NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481 		JBrowse link
G LAMA2 laminin subunit alpha 2 treatment ISO OMIM
RGD		 PMID:28714989 RGD:13605609 NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337 		JBrowse link
congenital muscular dystrophy 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: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:27905128 More... NCBI chr 7:30,641,413...30,656,507
Ensembl chr 7:30,758,165...30,772,640 		JBrowse link
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar NCBI chr22:14,077,463...14,929,250 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 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539 		JBrowse link
G LOC100984344 calpain-3 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820 		JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:38,796,991...39,038,824 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:9536098 PMID:15466003 PMID:17576681 PMID:17878207 PMID:17906881 More... NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:23757202 PMID:24033266 PMID:28492532 NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806 		JBrowse link
G RIF1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:38,721,658...38,818,488
Ensembl chr2B:155,985,960...156,052,926 		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 More... NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		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:9536098 PMID:15466003 PMID:17576681 PMID:17878207 PMID:17906881 More... NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr2B:65,783,512...66,064,618 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 chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220 		JBrowse link
G ITGA7 integrin subunit alpha 7 ISO OMIM NCBI chr12:33,195,602...33,226,796
Ensembl chr12:33,923,549...33,950,886 		JBrowse link
G METTL7B methyltransferase like 7B ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency ClinVar PMID:28492532 NCBI chr12:33,226,753...33,229,843
Ensembl chr12:33,950,849...33,953,903 		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 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539 		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 More... NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337 		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 chr17:1,477,511...1,499,765
Ensembl chr17:1,377,312...1,399,373 		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 More... NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
Ensembl chr 9:104,849,496...104,925,422 		JBrowse link
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 chr15:43,332,107...43,400,522
Ensembl chr15:61,623,584...61,692,963 		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 chr 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969 		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 chr 7:17,255,793...17,301,997
Ensembl chr 7:16,581,308...16,628,359 		JBrowse link
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 chr 7:17,302,322...17,362,737
Ensembl chr 7:16,628,679...16,688,982 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO OMIM NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220 		JBrowse link
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 chr 7:17,180,011...17,238,810
Ensembl chr 7:16,507,468...16,564,320 		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 chr 7:17,116,828...17,121,142
Ensembl chr 7:16,443,703...16,448,076 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A 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 ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 ClinVar PMID:23877401 PMID:25558065 NCBI chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678 		JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ClinVar PMID:25741868 NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852 		JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: HARD syndrome		 ClinVar PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 More... NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341 		JBrowse link
G FKTN fukutin ISO ClinVar Annotator: match by term: HARD syndrome
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1		 ClinVar PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 More... NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
Ensembl chr 9:104,849,496...104,925,422 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO OMIM NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		 ClinVar PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 More... NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RXYLT1 ribitol xylosyltransferase 1 ISO OMIM NCBI chr12:25,101,865...25,131,886
Ensembl chr12:25,599,173...25,628,872 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO OMIM NCBI chr 1:211,006,939...211,064,445
Ensembl chr 1:216,018,886...216,076,060 		JBrowse link
G TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:23453667 PMID:28492532 NCBI chr 1:210,881,078...211,008,686 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FNTA farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,303,987...42,333,743
Ensembl chr 8:39,743,768...39,774,031 		JBrowse link
G HOOK3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,145,427...42,278,727
Ensembl chr 8:39,595,762...39,711,043 		JBrowse link
G POMK protein O-mannose kinase ISO OMIM NCBI chr 8:42,340,500...42,371,426
Ensembl chr 8:39,790,758...39,811,239 		JBrowse link
G RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,097,900...42,145,327
Ensembl chr 8:39,541,479...39,588,163 		JBrowse link
G THAP1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,084,934...42,092,044
Ensembl chr 8:39,528,366...39,535,207 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO OMIM NCBI chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMT2 protein O-mannosyltransferase 2 ISO OMIM NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO OMIM NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		 ClinVar PMID:11709191 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16199547 More... NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein ISO OMIM NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341 		JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 ClinVar PMID:25741868 NCBI chr19:43,711,834...43,738,742
Ensembl chr19:52,240,880...52,260,241 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO OMIM NCBI chr22:14,077,463...14,929,250 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO OMIM NCBI chr 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 ISO OMIM NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852 		JBrowse link
congenital myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNA2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:25741868 NCBI chr10:64,898,024...64,956,541
Ensembl chr10:67,207,261...67,264,257 		JBrowse link
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:25741868 NCBI chr 3:177,948,040...178,012,705 JBrowse link
G LOC100978529 myosin-7 ISO ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myopathy, congenital
ClinVar Annotator: match by term: Congenital myopathy
ClinVar Annotator: match by term: Batten Turner congenital myopathy		 ClinVar PMID:16084090 PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 More... NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:25741868 NCBI chr2B:65,783,512...66,064,618 JBrowse link
Congenital Myopathy with Excess of Muscle Spindles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Myopathy, congenital, with excess of muscle spindles ClinVar PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 More... NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Myopathy, congenital, with excess of muscle spindles ClinVar PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 More... NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750 		JBrowse link
Congenital Myopathy with Fast-Twitch (Type ii) Fiber Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYL1 myosin light chain 1 ISO OMIM NCBI chr2B:97,548,013...97,573,336
Ensembl chr2B:215,950,087...215,974,852 		JBrowse link
Congenital Myopathy with Structured Cores and Z-Line Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN2 actinin alpha 2 ISO OMIM NCBI chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103 		JBrowse link
Congenital Myopathy with Tremor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYBPC1 myosin binding protein C1 ISO OMIM NCBI chr12:99,179,611...99,269,521
Ensembl chr12:102,578,014...102,669,618 		JBrowse link
Congenital Neuromuscular Disease, with Uniform Type 1 Fiber 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: Neuromuscular disease, congenital, with uniform type 1 fiber ClinVar PMID:9536098 PMID:10888602 PMID:11709545 PMID:11741831 PMID:12565913 More... NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
Congenital Proximal Myopathy with Minicore Lesions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXR1 FMR1 autosomal homolog 1 ISO OMIM NCBI chr 3:177,948,040...178,012,705 JBrowse link
congenital structural 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 CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO RGD PMID:14516314 RGD:1578366 NCBI chr10:87,652,254...87,661,173
Ensembl chr10:91,180,034...91,188,165 		JBrowse link
G BIN1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17676042 NCBI chr2B:33,168,767...33,228,075
Ensembl chr2B:127,716,550...127,775,378 		JBrowse link
G CCDC78 coiled-coil domain containing 78 ISO CTD Direct Evidence: marker/mechanism CTD Ensembl chr16:735,974...739,572 JBrowse link
G DNM2 dynamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17376685 NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 ISO Myopathy, centronuclear OMIA PMID:977449 PMID:2458692 PMID:3421890 PMID:3662204 PMID:3750734 More... NCBI chr10:17,911,158...17,940,075
Ensembl chr10:18,183,125...18,209,361 		JBrowse link
G LDB3 LIM domain binding 3 ISO RGD PMID:11696561 RGD:1581815 NCBI chr10:83,095,625...83,164,297
Ensembl chr10:86,654,737...86,722,148
Ensembl chr10:86,654,737...86,722,148 		JBrowse link
G LOC100978529 myosin-7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy		 CTD
ClinVar		 PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 More... NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763 		JBrowse link
G MTM1 myotubularin 1 ISO CTD Direct Evidence: marker/mechanism
Myotubular myopathy 1
myotubular myopathy, OMIM:310400, DNA:point mutation:exon:p.N207S (human)		 CTD
OMIA
RGD		 PMID:8640223 PMID:17376685 PMID:18481550 PMID:20682747 PMID:22987702 More... RGD:1600519 NCBI chr  X:140,218,742...140,323,495
Ensembl chr  X:150,174,758...150,255,381 		JBrowse link
G MTMR14 myotubularin related protein 14 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:9,600,866...9,653,860
Ensembl chr 3:9,839,821...9,892,055 		JBrowse link
G MYF6 myogenic factor 6 ISO centronuclear myopathy, OMIM:160150, DNA:point mutation:exon:A112S RGD PMID:11053684 RGD:1600529 NCBI chr12:78,226,562...78,229,470
Ensembl chr12:81,338,339...81,340,176 		JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:119,229,069...119,243,435 JBrowse link
G RYR1 ryanodine receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy
ClinVar Annotator: match by term: Myotubular myopathy		 CTD
ClinVar		 PMID:16940 PMID:1743490 PMID:4149045 PMID:8661021 PMID:9199552 More... NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
G SELENON selenoprotein N ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:25,058,907...25,076,817
Ensembl chr 1:26,127,125...26,141,745 		JBrowse link
G STIM1 stromal interaction molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:3,726,501...3,954,951
Ensembl chr11:3,840,513...4,065,224 		JBrowse link
G TPM2 tropomyosin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394 		JBrowse link
G TPM3 tropomyosin 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:129,511,914...129,538,703
Ensembl chr 1:133,126,641...133,161,894 		JBrowse link
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH3 myosin heavy chain 3 ISO OMIM NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735 		JBrowse link
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH3 myosin heavy chain 3 ISO OMIM NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735 		JBrowse link
dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2 complement C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3501473 NCBI chr 6:31,590,135...31,606,368 JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11359403 NCBI chr 5:71,011,961...71,090,243
Ensembl chr 5:76,051,911...76,130,725 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312 		JBrowse link
G CD36 CD36 molecule ISO mRNA:increased expression:skeletal muscle RGD PMID:17572512 RGD:6893508 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865 		JBrowse link
G CD40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994 		JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO protein:expression:serum RGD PMID:22394569 RGD:9491763 NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760 		JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:9182923 RGD:8662437 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G HGF hepatocyte growth factor disease_progression ISO protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811 		JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:20601655 RGD:4889547 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G IL4 interleukin 4 ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581 		JBrowse link
G LOC100982859 patr class I histocompatibility antigen, B-2 alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:3501473 NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067 		JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:polymorphisms:cds:p.G54D,G57E(human) RGD PMID:12485445 RGD:8693750 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:15856462 RGD:2324870 NCBI chr2B:77,090,215...77,180,724
Ensembl chr2B:195,010,233...195,100,492 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human) RGD PMID:22402141 RGD:8661693 NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011 		JBrowse link
G THBD thrombomodulin ISO RGD PMID:17899683 RGD:5685006 NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812 		JBrowse link
G TLR2 toll like receptor 2 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331 		JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
desmoid tumor 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: Desmoid tumor ClinVar PMID:8162051 PMID:15311282 PMID:17293347 PMID:20223039 PMID:20513532 More... NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		JBrowse link
diaphyseal medullary stenosis with malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTAP methylthioadenosine phosphorylase ISO OMIM NCBI chr 9:21,637,543...21,769,698
Ensembl chr 9:22,266,376...22,382,218 		JBrowse link
distal arthrogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL7 kelch like family member 7 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:18414213 PMID:25741868 PMID:29074562 NCBI chr 7:23,788,760...23,858,965
Ensembl chr 7:23,399,135...23,467,919 		JBrowse link
G MYBPC1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr12:99,179,611...99,269,521
Ensembl chr12:102,578,014...102,669,618 		JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735 		JBrowse link
G MYLPF myosin light chain, phosphorylatable, fast skeletal muscle ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:32707087 NCBI chr16:24,591,731...24,598,807
Ensembl chr16:30,747,060...30,751,165 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
G TNNI2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal
ClinVar Annotator: match by term: Distal arthrogryposis		 ClinVar PMID:12592607 PMID:17101001 PMID:17194691 PMID:25741868 NCBI chr11:1,874,633...1,878,343
Ensembl chr11:1,902,554...1,910,084 		JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr11:1,936,614...1,955,784
Ensembl chr11:1,968,184...1,987,849 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216 		JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCIN calicin ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:36,014,394...36,021,056
Ensembl chr 9:36,820,373...36,822,139 		JBrowse link
G CLTA clathrin light chain A ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:36,040,566...36,061,744
Ensembl chr 9:36,840,868...36,862,528 		JBrowse link
G CNTNAP1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 NCBI chr17:14,618,294...14,635,193
Ensembl chr17:14,842,577...14,858,896 		JBrowse link
G CREB3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:35,583,351...35,587,870
Ensembl chr 9:36,385,867...36,390,540 		JBrowse link
G FAM221B family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:35,668,180...35,679,557
Ensembl chr 9:36,471,284...36,479,018 		JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:35,587,876...35,599,971
Ensembl chr 9:36,390,409...36,402,949 		JBrowse link
G GLIPR2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:35,986,341...36,013,662
Ensembl chr 9:36,787,649...36,814,812 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588 		JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:35,663,433...35,666,479
Ensembl chr 9:36,465,806...36,468,325 		JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:35,756,749...35,762,219
Ensembl chr 9:36,559,012...36,559,362 		JBrowse link
G LOC100981170 olfactory receptor 13J1 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:35,718,990...35,722,649 JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159 		JBrowse link
G MSMP microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:35,603,948...35,605,085
Ensembl chr 9:36,406,679...36,407,845 		JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25741868 NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735 		JBrowse link
G MYH8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25741868 NCBI chr17:41,231,081...41,262,671
Ensembl chr17:45,978,472...46,010,038 		JBrowse link
G NPR2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637 		JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:35,886,741...35,974,133
Ensembl chr 9:36,699,631...36,774,116 		JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:35,600,213...35,641,371
Ensembl chr 9:36,403,447...36,411,420 		JBrowse link
G SPAG8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:35,658,541...35,662,920
Ensembl chr 9:36,460,951...36,465,112 		JBrowse link
G TLN1 talin 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:35,549,328...35,583,376
Ensembl chr 9:36,351,836...36,379,228 		JBrowse link
G TMEM8B transmembrane protein 8B ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:28492532 NCBI chr 9:35,679,698...35,704,945
Ensembl chr 9:36,482,289...36,507,300 		JBrowse link
G TPM2 tropomyosin 2 ISO OMIM NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394 		JBrowse link
distal arthrogryposis type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYBPC1 myosin binding protein C1 ISO OMIM NCBI chr12:99,179,611...99,269,521
Ensembl chr12:102,578,014...102,669,618 		JBrowse link
distal arthrogryposis type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYLPF myosin light chain, phosphorylatable, fast skeletal muscle ISO OMIM NCBI chr16:24,591,731...24,598,807
Ensembl chr16:30,747,060...30,751,165 		JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH3 myosin heavy chain 3 ISO OMIM NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735 		JBrowse link
distal arthrogryposis type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B
DNA:missense mutation:exon:p.A234T (769C>T) (human)
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities		 ClinVar
RGD		 PMID:16642020 PMID:18414213 PMID:18695058 PMID:19142688 PMID:25741868 More... RGD:12792960 NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735 		JBrowse link
G TNNI2 troponin I2, fast skeletal type ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal arthrogryposis type 2B		 CTD
ClinVar		 PMID:12592607 PMID:17101001 PMID:17194691 PMID:23401156 PMID:23850728 More... NCBI chr11:1,874,633...1,878,343
Ensembl chr11:1,902,554...1,910,084 		JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO DNA:missense mutation:cds;p.Arg63His(human)
ClinVar Annotator: match by term: Distal arthrogryposis type 2B
ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B		 RGD
ClinVar		 PMID:10525521 PMID:12865991 PMID:18414213 PMID:19142688 PMID:21402185 More... RGD:1599490 NCBI chr11:1,936,614...1,955,784
Ensembl chr11:1,968,184...1,987,849 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B ClinVar PMID:25741868 NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394 		JBrowse link
distal arthrogryposis type 2B1