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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
Synonyms:primary_id: RDO:9003114
For additional species annotation, visit the Alliance of Genome Resources.


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3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO OMIM NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,912,828...121,106,666
JBrowse link
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO OMIM NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,540
JBrowse link
3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCCC1 methylcrotonoyl-CoA carboxylase 1 ISO ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar PMID:11170888 PMID:14680978 PMID:24033266 PMID:25356967 PMID:25741868 PMID:28492532 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,912,828...121,106,666
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 ISO ClinVar Annotator: match by term: 3-MCC Deficiency ClinVar NCBI chr16:47,917,308...47,996,540
Ensembl chr16:47,917,291...47,996,540
JBrowse link
Actin-Accumulation Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital myopathy with excess of thin filaments ClinVar PMID:9185179 PMID:10508519 PMID:10528865 PMID:11333380 PMID:11525890 PMID:12921789 PMID:15226407 PMID:15236405 PMID:15468086 PMID:16427282 PMID:16945536 PMID:17227580 PMID:17387733 PMID:17705262 PMID:18414213 PMID:19206168 PMID:19553121 PMID:19562689 PMID:20303757 PMID:20621480 PMID:21514153 PMID:21520333 PMID:22442437 PMID:23102861 PMID:23294764 PMID:23394784 PMID:23650303 PMID:24033266 PMID:24642510 PMID:24787270 PMID:24852243 PMID:25182138 PMID:25214167 PMID:25326635 PMID:25470062 PMID:25525159 PMID:25635128 PMID:25741868 PMID:26172852 PMID:26436962 PMID:26467025 PMID:27447704 PMID:27854218 PMID:28256728 PMID:28357410 PMID:28416349 PMID:28492532 PMID:29274205 PMID:29792937 PMID:30253894 PMID:30311386 PMID:30354303 NCBI chr14:60,412,651...60,415,687 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 chr 3:124,940,557...125,074,137
Ensembl chr 3:124,940,548...125,074,123
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 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,673,798...31,677,696
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 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
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 8:110,069,565...110,089,789
Ensembl chr 8:110,069,829...110,089,708
JBrowse link
Alcohol Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO RGD PMID:14506614 RGD:1581765 NCBI chr 3:18,545,064...18,568,312
Ensembl chr 3:18,547,976...18,568,313
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:59,748,685...59,861,018
Ensembl chr  X:59,748,741...59,861,018
JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,400,794...111,422,042
JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,327...47,465,791
JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,744,742...54,890,997
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility ISO DNA:missense mutation:cds:p.P1073L (3218C>T) (human) OMIM
RGD
PMID:20142534 RGD:15039298 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr 7:54,783,965...54,800,008
Ensembl chr 7:54,771,978...54,889,014
JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma ClinVar PMID:11257105 PMID:16454848 PMID:18199528 PMID:21859464 PMID:24033266 PMID:25637381 PMID:25741868 PMID:26580448 PMID:27535533 PMID:28492532 PMID:28503720 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G FOXO1 forkhead box O1 ISO OMIM NCBI chr11:15,317,222...15,410,059
Ensembl chr11:15,317,124...15,410,473
JBrowse link
G PAX3 paired box 3 ISO OMIM NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,095,224...124,193,011
JBrowse link
G PAX7 paired box 7 ISO OMIM NCBI chr 6:77,160,827...77,268,626
Ensembl chr 6:77,161,097...77,267,415
JBrowse link
G TP73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,177,682...65,228,992
JBrowse link
G WWTR1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr13:89,742,980...89,889,547
Ensembl chr13:89,742,893...89,889,187
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 chr12:995,688...1,021,932
Ensembl chr12:995,688...1,031,128
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 2:141,179,515...141,230,259 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 chr15:110,705,548...110,773,037
Ensembl chr15:110,697,408...110,771,755
JBrowse link
antisynthetase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110258578 interleukin-1 beta-like ISO ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018 PMID:24195946 PMID:25741868 PMID:28492532 PMID:30611313 NCBI chr 6:47,339,759...47,458,457 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 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO OMIM NCBI chr 1:13,715,644...14,201,711 JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYNE2 spectrin repeat containing nuclear envelope protein 2 ISO OMIM NCBI chr 1:193,909,563...194,352,550
Ensembl chr 1:193,911,965...194,264,354
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 chr13:70,397,069...70,417,213
Ensembl chr13:70,393,219...70,417,168
JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH7 myosin heavy chain 7 ISO OMIM NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
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 chr18:1,444,737...1,499,904
Ensembl chr18:1,444,737...1,630,889
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 chr18:19,572,555...19,673,165
Ensembl chr18:19,572,811...19,673,166
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 8:135,802,530...135,809,871
Ensembl chr 8:135,802,894...135,809,866
JBrowse link
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO OMIM NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,121...129,013,547
JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,744,742...54,890,997
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO OMIM NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
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 chr14:112,068,463...112,076,169
Ensembl chr14:112,066,846...112,075,822
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 chr15:46,193,498...46,197,989
Ensembl chr15:46,193,699...46,200,994
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 chr14:112,068,463...112,076,169
Ensembl chr14:112,066,846...112,075,822
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MILR1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ClinVar PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 NCBI chr12:14,612,177...14,637,946
Ensembl chr12:14,608,357...14,636,945
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO OMIM NCBI chr12:14,582,075...14,601,576
Ensembl chr12:14,582,544...14,601,576
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 4:34,823,869...34,859,777
Ensembl chr 4:34,823,757...34,859,780
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 chr14:71,550,405...71,607,067
Ensembl chr14:71,549,815...71,651,089
JBrowse link
autosomal recessive centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIN1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive centronuclear myopathy
ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive
CTD
ClinVar
PMID:17676042 PMID:18414213 PMID:20142620 PMID:22912834 PMID:22960267 PMID:24033266 PMID:24549043 PMID:24755653 PMID:25262827 PMID:25741868 PMID:26101835 PMID:26467025 PMID:28492532 PMID:29103045 PMID:29950440 NCBI chr15:25,328,679...25,379,675
Ensembl chr15:25,328,674...25,383,652
JBrowse link
G SPEG striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:121,443,976...121,501,453 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 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
autosomal recessive hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH7 myosin heavy chain 7 ISO OMIM NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
autosomal recessive limb-girdle muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:18414213 PMID:23606453 PMID:24022920 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31395899 NCBI chr 2:37,171,402...37,256,204
Ensembl chr 2:37,171,401...37,255,811
JBrowse link
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 1:256,825,466...257,740,676
Ensembl chr 1:256,825,486...257,740,977
JBrowse link
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:12461690 PMID:14578192 PMID:14981715 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17318636 PMID:18055493 PMID:18414213 PMID:18854868 PMID:18854869 PMID:19835634 PMID:20635405 PMID:21204801 PMID:21984748 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27142102 PMID:28492532 PMID:30311386 NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,121...129,013,547
JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:9536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 PMID:17060380 PMID:17210839 PMID:17275750 PMID:19380584 PMID:20472890 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26467025 PMID:26498160 PMID:27483260 PMID:27930701 PMID:28492532 PMID:29961767 PMID:30055862 NCBI chr13:65,117,868...65,130,886
Ensembl chr13:65,117,776...65,134,066
JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:12796534 PMID:14678801 PMID:15469449 PMID:17512949 PMID:18832576 PMID:18853459 PMID:19493611 PMID:20535123 PMID:22213072 PMID:22297152 PMID:24033266 PMID:24239059 PMID:24438169 PMID:24838345 PMID:25741868 PMID:25868377 PMID:25987458 PMID:26077327 PMID:26290895 PMID:26467025 PMID:27666772 PMID:28492532 NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,141...71,246,967
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532 PMID:30311386 NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,482...52,639,255
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:12920062 PMID:15205219 PMID:15475483 PMID:15998779 PMID:17377071 PMID:18414213 PMID:18549403 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19638735 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24721642 PMID:25741868 PMID:26467025 PMID:26602028 PMID:27854218 PMID:27896052 PMID:28492532 PMID:28679633 PMID:28785654 PMID:30311386 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:15466003 PMID:17869517 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:23894383 PMID:25741868 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30311386 NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:23757202 PMID:24033266 PMID:25741868 NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,451,080
JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO DNA:missense mutation:exon:p.T184M, (c.551C>T) (human)
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
RGD
ClinVar
PMID:17923109 RGD:11532762 NCBI chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,417,173
JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,379,695...2,456,664
JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive ClinVar PMID:9032047 PMID:9192266 PMID:9585331 PMID:12746421 PMID:17994539 PMID:18285821 PMID:18421900 PMID:18996010 PMID:22095924 PMID:24033266 PMID:25135358 PMID:25741868 PMID:26404900 PMID:26453141 PMID:28492532 NCBI chr12:26,356,691...26,368,561
Ensembl chr12:26,356,773...26,371,601
JBrowse link
G SGCB sarcoglycan beta ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:7581449 PMID:9032047 PMID:10993494 PMID:15032976 PMID:15938573 PMID:19770540 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:39,130,371...39,148,756 JBrowse link
G SGCD sarcoglycan delta ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:10974018 PMID:12794684 PMID:18414213 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26968544 PMID:28401079 PMID:28492532 NCBI chr16:66,447,982...67,481,709
Ensembl chr16:66,452,416...66,887,924
JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:2,310,280...2,380,054 JBrowse link
G TRIM32 tripartite motif containing 32 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 1:257,051,421...257,066,911
Ensembl chr 1:257,054,227...257,066,910
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:15466003 PMID:17869517 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:23894383 PMID:25741868 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30311386 NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,641...165,235,150
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:22335739 PMID:22526018 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24503780 PMID:24892279 PMID:25163546 PMID:25589632 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28822653 NCBI chr15:84,226,953...84,501,320 JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA2 laminin subunit alpha 2 ISO OMIM NCBI chr 1:33,765,412...34,359,741
Ensembl chr 1:33,867,639...34,359,698
JBrowse link
G TRAPPC11 trafficking protein particle complex 11 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 ClinVar PMID:23830518 PMID:25741868 PMID:28492532 PMID:29158550 PMID:31575891 NCBI chr15:44,989,636...45,040,766
Ensembl chr15:44,989,636...45,040,761
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 chr13:26,503,610...26,526,185
Ensembl chr13:26,523,983...26,526,133
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 1:71,380,760...71,400,134
Ensembl chr 1:71,380,768...71,400,192
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO OMIM NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,121...129,013,547
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868 PMID:31263448 NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,121...129,013,547
JBrowse link
G DYSF dysferlin ISO OMIM NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,141...71,246,967
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 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 ClinVar PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 PMID:29300372 NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G VDR vitamin D receptor ISO protein:increased expression:muscle: RGD PMID:27558075 RGD:13210781 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C
ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type
ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,379,695...2,456,664
JBrowse link
G SGCG sarcoglycan gamma ISO OMIM NCBI chr11:2,310,280...2,380,054 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 chr13:32,028,019...32,092,450
Ensembl chr13:32,029,329...32,092,453
JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,379,695...2,456,664
JBrowse link
G SGCA sarcoglycan alpha treatment ISO OMIM
RGD
PMID:17653106 RGD:13605612 NCBI chr12:26,356,691...26,368,561
Ensembl chr12:26,356,773...26,371,601
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 chr11:2,310,280...2,380,054 JBrowse link
G TUBA1A tubulin alpha 1a ISO ClinVar Annotator: match by term: ADHALINOPATHY, PRIMARY ClinVar PMID:18414213 PMID:18728072 PMID:20466733 PMID:25741868 PMID:30744660 NCBI chr 5:15,186,059...15,190,211
Ensembl chr 5:15,149,099...15,269,267
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 8:39,130,371...39,148,756 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 chr16:66,447,982...67,481,709
Ensembl chr16:66,452,416...66,887,924
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 chr12:22,651,666...22,652,904
Ensembl chr12:22,651,666...22,653,453
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Sarcotubular myopathy ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 PMID:17994549 PMID:19349376 PMID:21775502 PMID:22025579 PMID:22981120 PMID:23142638 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 1:256,825,466...257,740,676
Ensembl chr 1:256,825,486...257,740,977
JBrowse link
G TRIM32 tripartite motif containing 32 ISO OMIM NCBI chr 1:257,051,421...257,066,911
Ensembl chr 1:257,054,227...257,066,910
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein treatment ISO OMIM
RGD
PMID:25048216 RGD:11667961 NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,482...52,639,255
JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED ClinVar PMID:25741868 NCBI chr 6:52,601,934...52,627,910
Ensembl chr 6:52,601,934...52,627,902
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 MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J ClinVar PMID:15519027 PMID:19808356 PMID:21310275 PMID:23074333 PMID:23299917 PMID:24033266 PMID:24793961 PMID:25637381 PMID:26914223 PMID:27532257 PMID:27854218 PMID:28492532 PMID:29451820 PMID:29540445 NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,539...15,270,104
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J ClinVar PMID:14557557 PMID:14635118 PMID:16401742 PMID:16940310 PMID:18546365 PMID:19578034 PMID:21880868 PMID:23921535 PMID:24508722 PMID:25118206 PMID:25326637 PMID:25462018 PMID:25741868 PMID:26095671 PMID:26357557 PMID:26467025 PMID:27119776 PMID:27987238 PMID:28128857 PMID:28492532 PMID:29474836 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
JBrowse link
G TTN titin ISO OMIM NCBI chr15:84,226,953...84,501,320 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 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,711
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 1:271,075,376...271,099,984
Ensembl chr 1:271,072,734...271,102,803
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 1:270,748,534...270,757,717
Ensembl chr 1:270,748,537...270,758,130
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 1:271,242,312...271,257,839
Ensembl chr 1:271,242,332...271,258,939
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 1:270,919,793...270,956,753
Ensembl chr 1:270,918,249...270,956,350
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED ClinVar PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532 PMID:30311386 NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,482...52,639,255
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 1:271,004,423...271,071,223
Ensembl chr 1:271,004,433...271,071,227
JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 1:271,103,838...271,210,292
Ensembl chr 1:271,103,833...271,210,290
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 1:271,268,843...271,283,657
Ensembl chr 1:271,241,205...271,284,585
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO OMIM NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,451,080
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 1:270,723,880...270,739,468
Ensembl chr 1:270,723,880...270,739,468
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 1:271,336,780...271,430,936
Ensembl chr 1:271,336,821...271,430,936
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 1:270,909,323...270,917,674
Ensembl chr 1:270,911,878...270,912,282
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 chr 2:37,171,402...37,256,204
Ensembl chr 2:37,171,401...37,255,811
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 1:246,852,387...246,916,650 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 1:246,852,387...246,916,650 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 ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14 ClinVar PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,779
JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO OMIM NCBI chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,417,173
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 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
ClinVar PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:30311386 PMID:30937090 PMID:30961548 PMID:33175337 NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,641...165,235,150
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMT aminomethyltransferase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,995,600...32,002,514
Ensembl chr13:31,995,595...32,002,470
JBrowse link
G C13H3orf62 chromosome 13 C3orf62 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,840,281...31,848,825
Ensembl chr13:31,826,945...31,904,240
JBrowse link
G C13H3orf84 chromosome 13 C3orf84 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,780,619...31,790,704
Ensembl chr13:31,781,278...31,792,629
JBrowse link
G CCDC71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,763,802...31,771,260
Ensembl chr13:31,767,492...31,771,218
JBrowse link
G DAG1 dystroglycan 1 ISO OMIM NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,329...32,092,453
JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,914,932...31,917,335
JBrowse link
G IHO1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,802,963...31,836,911
Ensembl chr13:31,775,668...31,836,911
JBrowse link
G KLHDC8B kelch domain containing 8B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,775,339...31,780,483
Ensembl chr13:31,775,694...31,780,484
JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,738,282...31,750,623
Ensembl chr13:31,738,284...31,771,220
JBrowse link
G NICN1 nicolin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:32,002,658...32,007,266
Ensembl chr13:32,002,658...32,007,217
JBrowse link
G RHOA ras homolog family member A ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,836...32,003,722
JBrowse link
G TCTA T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,991,408...31,995,274
Ensembl chr13:31,991,567...31,998,168
JBrowse link
G USP4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr13:31,844,780...31,904,418
Ensembl chr13:31,840,300...31,904,348
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 4:696,355...753,859
Ensembl chr 4:685,456...753,859
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAPPC11 trafficking protein particle complex 11 ISO OMIM NCBI chr15:44,989,636...45,040,766
Ensembl chr15:44,989,636...45,040,761
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 chr13:32,246,471...32,253,162
Ensembl chr13:32,246,468...32,253,148
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 9:85,419,401...85,711,146
Ensembl chr 9:85,415,550...85,710,752
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPR17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W ClinVar PMID:28492532 NCBI chr15:59,692,992...59,702,513
Ensembl chr15:59,692,992...59,701,266
JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO OMIM NCBI chr15:59,672,508...59,709,380
Ensembl chr15:59,672,538...59,709,380
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 1:71,316,354...71,360,255
Ensembl chr 1:71,314,274...71,360,176
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 9:121,515,691...121,566,799
Ensembl chr 9:121,515,570...121,566,796
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 9:121,476,501...121,516,611
Ensembl chr 9:121,476,500...121,516,610
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 chr13:140,763,231...140,793,645
Ensembl chr13:140,764,185...140,793,596
JBrowse link
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,744,742...54,890,997
JBrowse link
G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:16754800 PMID:23549607 PMID:24033266 PMID:24111713 PMID:25132132 PMID:25326637 PMID:25637381 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr13:29,730,271...29,735,616
Ensembl chr13:29,699,304...29,735,586
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO OMIM NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
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 chr 3:131,268,908...131,277,072 JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TK2 thymidine kinase 2 ISO OMIM NCBI chr 6:27,226,421...27,255,645
Ensembl chr 6:27,226,425...27,255,693
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 chr 3:69,054,749...69,091,366
Ensembl chr 3:69,054,760...69,091,341
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 chr12:60,443,592...60,468,968
Ensembl chr12:60,443,731...60,469,040
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 7:837,088...840,593
Ensembl chr 7:837,171...838,805
JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200
JBrowse link
G PITX2 paired like homeodomain 2 ISO OMIM NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298
JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,097,397...103,382,115
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:27,028,223...29,650,728
Ensembl chr  X:27,028,223...29,181,689
JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868
JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:25741868 NCBI chr17:36,917,276...36,946,232 JBrowse link
Benign Pseudohypertrophic Muscular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:7881286 PMID:17259292 PMID:19937601 PMID:23757202 PMID:24033266 PMID:25447171 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,223...29,181,689
JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868
JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:25741868 NCBI chr17:36,917,276...36,946,232 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 1:90,744,409...90,875,127
Ensembl chr 1:90,744,429...90,875,118
JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD
ClinVar
PMID:12840783 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19309692 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:22992134 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24314752 PMID:24801232 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:29419890 PMID:30564623
G COL6A3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
CTD
ClinVar
PMID:15563506 PMID:15689448 PMID:16935502 PMID:17785673 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:20976770 PMID:20981092 PMID:22995991 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25214167 PMID:25224718 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26467025 PMID:26872670 PMID:27854218 PMID:28492532 PMID:28688748 PMID:29970176 PMID:30487145 PMID:30564623 NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709
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
G LOC100623720 collagen alpha-1(VI) 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:15689448 PMID:16130093 PMID:18414213 PMID:20302629 PMID:20981092 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:30311386 PMID:30564623 NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,240...208,313,127
JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: Muscular dystrophy, benign congenital ClinVar PMID:12955720 PMID:15689448 PMID:16783378 PMID:18484607 PMID:19881469 PMID:20301515 PMID:20301718 PMID:20301788 PMID:21735565 PMID:21943391 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr12:22,651,666...22,652,904
Ensembl chr12:22,651,666...22,653,453
JBrowse link
Bethlem Myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACKR3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr15:136,370,457...136,382,559
Ensembl chr15:136,370,530...136,382,559
JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,756...43,813,140
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
G COL6A3 collagen type VI alpha 3 chain ISO OMIM NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709
JBrowse link
G COPS8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr15:136,828,222...136,838,058
Ensembl chr15:136,827,862...136,838,048
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532
G LOC100623720 collagen alpha-1(VI) chain susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human) OMIM
RGD
PMID:8782832 RGD:1600934 NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,240...208,313,127
JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:12955720 PMID:15689448 PMID:16783378 PMID:18484607 PMID:19881469 PMID:20301515 PMID:20301718 PMID:20301788 PMID:21735565 PMID:21943391 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr12:22,651,666...22,652,904
Ensembl chr12:22,651,666...22,653,453
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 1:90,744,409...90,875,127
Ensembl chr 1:90,744,429...90,875,118
JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3-3A H3 histone, family 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr10:13,939,938...13,947,976
Ensembl chr10:13,939,594...13,948,000
JBrowse link
Brody myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO OMIM NCBI chr 3:18,545,064...18,568,312
Ensembl chr 3:18,547,976...18,568,313
JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 3:18,506,082...18,519,060
Ensembl chr 3:18,506,052...18,519,060
JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar NCBI chr 3:18,568,264...18,586,259
Ensembl chr 3:18,568,264...18,585,926
JBrowse link
G SH2B1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 3:18,533,282...18,543,133
Ensembl chr 3:18,524,820...18,543,136
JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 3:18,521,119...18,524,705
Ensembl chr 3:18,521,125...18,524,760
JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26490314 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29872718 PMID:30068732 PMID:30311386 NCBI chr16:79,838,442...79,862,956 JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 PMID:17200167 PMID:17667967 PMID:17884808 PMID:19001511 PMID:19215943 PMID:19802898 PMID:21820839 PMID:23282968 PMID:24033266 PMID:25371406 PMID:25683602 PMID:25741868 PMID:25972245 PMID:26173966 PMID:26467025 PMID:26916530 PMID:28070496 PMID:28152038 PMID:28349240 PMID:28374168 PMID:28492532 PMID:28738844 PMID:29386252 NCBI chr 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378
JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:12658451 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:24402737 PMID:26173966 PMID:28492532 NCBI chr 4:89,135,410...89,169,164
Ensembl chr 4:89,130,355...89,169,121
JBrowse link
central core myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,926,894
JBrowse link
G ATP13A4 ATPase 13A4 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr13:130,436,995...130,590,124 JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:33,282,524...33,325,598
Ensembl chr15:33,271,079...33,305,632
JBrowse link
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:11139241 PMID:16123401 PMID:17964524 PMID:23049240 PMID:25741868 PMID:28492532 NCBI chr 6:53,506,410...53,509,858
Ensembl chr 6:53,506,410...53,512,191
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Central core disease ClinVar PMID:15475483 PMID:15998779 PMID:18414213 PMID:24033266 PMID:24721642 PMID:25741868 PMID:26467025 PMID:27854218 PMID:27896052 PMID:28492532 PMID:28785654 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr 3:38,934,573...38,948,609 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 6:95,840,906...95,860,858
Ensembl chr 6:95,840,905...95,860,837
JBrowse link
G RYR1 ryanodine receptor 1 ISO OMIM NCBI chr 6:47,339,759...47,458,457 JBrowse link
centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Myopathy, centronuclear ClinVar PMID:16227997 PMID:17008356 PMID:17932957 PMID:18414213 PMID:19130742 PMID:20227276 PMID:20529869 PMID:20700106 PMID:20817456 PMID:20858595 PMID:20927630 PMID:21221624 PMID:21762456 PMID:22096584 PMID:22369075 PMID:22396310 PMID:22613877 PMID:23338057 PMID:23394783 PMID:24016602 PMID:24088041 PMID:24135484 PMID:24366529 PMID:24465259 PMID:25262827 PMID:25326635 PMID:25492887 PMID:25501959 PMID:25741868 PMID:25957634 PMID:26199319 PMID:26273216 PMID:26467025 PMID:26633545 PMID:26842864 PMID:26908122 PMID:27343996 PMID:28492532 PMID:28676641 PMID:32860008 NCBI chr 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424
JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Myotubular myopathy ClinVar PMID:18414213 NCBI chr  X:122,286,904...122,379,302
Ensembl chr  X:122,286,916...122,379,299
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myotubular myopathy
ClinVar Annotator: match by term: Centronuclear myopathy
ClinVar PMID:22473935 PMID:25741868 PMID:28492532 NCBI chr 6:47,339,759...47,458,457 JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Myotubular myopathy
ClinVar Annotator: match by term: Centronuclear myopathy
ClinVar PMID:22335739 PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 PMID:26701604 PMID:28492532 NCBI chr15:84,226,953...84,501,320 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 chr 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424
JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:25741868 NCBI chr  X:122,286,904...122,379,302
Ensembl chr  X:122,286,916...122,379,299
JBrowse link
G MTMR14 myotubularin related protein 14 ISO OMIM NCBI chr13:65,948,520...65,994,231
Ensembl chr13:65,948,542...66,019,078
JBrowse link
G MYF6 myogenic factor 6 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3
ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant
ClinVar PMID:11053684 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 5:100,762,918...100,764,771
Ensembl chr 5:100,762,910...100,765,704
JBrowse link
G MYOD1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:31260566 NCBI chr 2:41,422,522...41,424,236
Ensembl chr 2:41,415,735...41,425,234
JBrowse link
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 5:101,099,525...101,318,254
Ensembl chr 5:101,100,282...101,251,884
JBrowse link
G PPP1R12A protein phosphatase 1 regulatory subunit 12A ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 5:101,490,282...101,639,456
Ensembl chr 5:101,490,277...101,639,442
JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334
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 chr15:25,328,679...25,379,675
Ensembl chr15:25,328,674...25,383,652
JBrowse link
centronuclear myopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC78 coiled-coil domain containing 78 ISO OMIM NCBI chr 3:41,053,926...41,057,735
Ensembl chr 3:41,053,936...41,057,734
JBrowse link
centronuclear myopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10655546 PMID:11774072 PMID:11980847 PMID:14507861 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18622259 PMID:19204079 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:23028769 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25978063 PMID:27408750 PMID:27508083 PMID:27535533 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30311386 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,206,750
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10862084 PMID:12552569 PMID:15060124 PMID:15863657 PMID:16944272 PMID:17726231 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
G SPEG striated muscle enriched protein kinase ISO OMIM NCBI chr15:121,443,976...121,501,453 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 chr15:79,174,444...79,378,520
Ensembl chr15:79,173,033...79,381,035
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:122,456,668...122,535,989
Ensembl chr  X:122,456,670...122,535,870
JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:17932957 PMID:18414213 PMID:20227276 PMID:20700106 PMID:22396310 PMID:23338057 PMID:24135484 PMID:25741868 PMID:25957634 PMID:26199319 PMID:28492532 PMID:32860008 NCBI chr 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424
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:122,708,551...122,713,163
Ensembl chr  X:122,708,422...122,713,163
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:122,591,413...122,599,496
Ensembl chr  X:122,592,936...122,599,493
JBrowse link
G MTM1 myotubularin 1 ISO OMIM NCBI chr  X:122,286,904...122,379,302
Ensembl chr  X:122,286,916...122,379,299
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:122,394,768...122,455,266
Ensembl chr  X:122,394,921...122,453,905
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:122,872,141...122,882,976 JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,744,742...54,890,997
JBrowse link
G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:16754800 PMID:23549607 PMID:24033266 PMID:24111713 PMID:25132132 PMID:25326637 PMID:25637381 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr13:29,730,271...29,735,616
Ensembl chr13:29,699,304...29,735,586
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25286830 PMID:25326637 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28284481 PMID:28337550 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29474836 PMID:29482223 PMID:29588995 PMID:30255931 PMID:30290626 PMID:30311386 PMID:30373890 PMID:30843307 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
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:88,074,861...88,101,925
Ensembl chr  X:88,074,963...88,119,094
JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100521680 histone H3.3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr12:5,632,326...5,634,977
Ensembl chr12:5,632,365...5,634,726
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 chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
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 chr12:14,612,177...14,637,946
Ensembl chr12:14,608,357...14,636,945
JBrowse link
G MYF5 myogenic factor 5 ISO ClinVar Annotator: match by term: Chronic progressive external ophthalmoplegia ClinVar PMID:10844060 PMID:29887215 NCBI chr 5:100,753,440...100,755,558
Ensembl chr 5:100,752,890...100,755,494
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
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)
RGD
CTD
PMID:11431686 PMID:12565911 PMID:12975295 PMID:16401742 PMID:17420318 PMID:17923349 RGD:737726 RGD:8694163 RGD:8694170 RGD:8694183 RGD:8694204 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr12:14,582,075...14,601,576
Ensembl chr12:14,582,544...14,601,576
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 NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,757...34,859,780
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 chr15:46,193,498...46,197,989
Ensembl chr15:46,193,699...46,200,994
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G TWNK twinkle mtDNA helicase susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar Annotator: match by term: Progressive external ophthalmoplegia
RGD
ClinVar
PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 PMID:19513767 PMID:20479361 PMID:20659899 PMID:20880070 PMID:25741868 PMID:26467025 PMID:28812649 RGD:1600544 NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,066,846...112,075,822
JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AVIL advillin ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 ClinVar NCBI chr 5:23,087,946...23,110,602
Ensembl chr 5:23,087,956...23,132,465
JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO OMIM NCBI chr 5:23,073,087...23,087,029
Ensembl chr 5:23,073,007...23,096,914
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:106,676,596...106,708,290
Ensembl chr  X:106,670,519...106,708,317
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 ClinVar PMID:20362274 PMID:22019070 PMID:25583628 PMID:25741868 PMID:26173962 PMID:26467025 PMID:28492532 NCBI chr  X:106,708,402...106,723,803
Ensembl chr  X:106,712,272...106,723,413
JBrowse link
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14H12orf65 chromosome 14 C12orf65 homolog ISO OMIM NCBI chr14:29,644,945...29,658,906
Ensembl chr14:29,645,603...29,658,899
JBrowse link
G MPHOSPH9 M-phase phosphoprotein 9 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar NCBI chr14:29,659,027...29,726,756
Ensembl chr14:29,659,034...29,728,214
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 chr 5:72,168,496...72,495,454
Ensembl chr 5:72,168,511...72,495,633
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 2:131,150,665...131,370,241
Ensembl chr 2:131,152,127...131,370,466
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 4:94,661,568...94,662,223 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 chr14:60,412,651...60,415,687 JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 PMID:7581410 PMID:7662452 PMID:7731997 PMID:7848420 PMID:8186698 PMID:8254035 PMID:8268932 PMID:9105042 PMID:9140839 PMID:9826622 PMID:9835779 PMID:10024460 PMID:10065021 PMID:10328076 PMID:10521296 PMID:10725281 PMID:10750581 PMID:10882745 PMID:11133230 PMID:11186938 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11861410 PMID:11861413 PMID:11968089 PMID:12081993 PMID:12707239 PMID:12818575 PMID:12820698 PMID:12975413 PMID:15010274 PMID:15136674 PMID:15358028 PMID:15483641 PMID:15528230 PMID:15563892 PMID:15856146 PMID:15858117 PMID:16199542 PMID:16267253 PMID:16630449 PMID:16858239 PMID:16918501 PMID:17125710 PMID:17438619 PMID:17560888 PMID:17612745 PMID:18029407 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18761664 PMID:19150014 PMID:19880069 PMID:20031618 PMID:20350521 PMID:20800588 PMID:21239446 PMID:21310275 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22429680 PMID:22455086 PMID:22857948 PMID:23054336 PMID:23197161 PMID:23233322 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23396983 PMID:23403236 PMID:23549607 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23751935 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24691700 PMID:24704860 PMID:24793961 PMID:25031304 PMID:25132132 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25714468 PMID:25741868 PMID:25937619 PMID:26573135 PMID:26743238 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27974200 PMID:28138913 PMID:28193612 PMID:28241245 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28606303 PMID:28615295 PMID:28790153 PMID:29121657 PMID:29212898 PMID:29300372 PMID:30297972 PMID:30511546 PMID:31333075 PMID:31568572 NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion
ClinVar Annotator: match by term: Congenital fiber-type disproportion
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar PMID:1743490 PMID:10097181 PMID:11274444 PMID:11709545 PMID:11741831 PMID:12123492 PMID:12642598 PMID:15175001 PMID:15210166 PMID:15221887 PMID:16084090 PMID:16621918 PMID:16917943 PMID:17033962 PMID:17081152 PMID:17483490 PMID:18253926 PMID:18414213 PMID:18564801 PMID:19191333 PMID:19648156 PMID:19825159 PMID:20583297 PMID:20681998 PMID:20839240 PMID:20888934 PMID:21062345 PMID:21674524 PMID:21825032 PMID:22203976 PMID:22473935 PMID:22992668 PMID:23329375 PMID:23553484 PMID:23558838 PMID:23826317 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24361844 PMID:24433488 PMID:24561095 PMID:24950660 PMID:25084811 PMID:25214167 PMID:25256590 PMID:25326635 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25989378 PMID:26633545 PMID:27854218 PMID:27857962 PMID:28224104 PMID:28259615 PMID:28403410 PMID:28492532 PMID:28818389 PMID:29172004 PMID:30155738 PMID:30236257 PMID:30611313 PMID:30788618 PMID:31055738 NCBI chr 6:47,339,759...47,458,457 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 chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,584
JBrowse link
G SELENON selenoprotein N ISO OMIM NCBI chr 6:83,246,934...83,262,748 JBrowse link
G TPM3 tropomyosin 3 ISO OMIM NCBI chr 4:95,542,329...95,572,946
Ensembl chr 4:95,542,472...95,572,938
JBrowse link
congenital merosin-deficient muscular dystrophy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCHE butyrylcholinesterase ISO RGD PMID:12383920 RGD:5688132 NCBI chr13:104,946,732...105,007,568 JBrowse link
G LAMA2 laminin subunit alpha 2 treatment ISO OMIM
RGD
PMID:28714989 RGD:13605609 NCBI chr 1:33,765,412...34,359,741
Ensembl chr 1:33,867,639...34,359,698
JBrowse link
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 6:167,363,348...167,596,892
Ensembl chr 6:167,363,355...167,595,871
JBrowse link
congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17318636 PMID:20635405 PMID:21204801 PMID:21984748 PMID:25741868 PMID:26467025 PMID:27142102 PMID:28492532 PMID:30311386 NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,121...129,013,547
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29260090 PMID:29382405 NCBI chr 9:85,419,401...85,711,146
Ensembl chr 9:85,415,550...85,710,752
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:28492532 PMID:28617417 PMID:30311386 PMID:31132235 NCBI chr18:42,903,100...42,913,609
Ensembl chr18:42,901,173...42,913,884
JBrowse link
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 1:33,765,412...34,359,741
Ensembl chr 1:33,867,639...34,359,698
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar
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 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr15:546,187...766,131
Ensembl chr15:546,233...766,131
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
ClinVar Annotator: match by term: Congenital muscular dystrophy
ClinVar PMID:15466003 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:24033266 PMID:24123366 PMID:25326635 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30311386 PMID:30961548 NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:23757202 PMID:24033266 NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,451,080
JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,417,173
JBrowse link
G RIF1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr15:769,518...832,036
Ensembl chr15:774,189...832,010
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 PMID:23329375 PMID:23394784 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27058611 PMID:27147545 PMID:27153395 PMID:28492532 NCBI chr 6:47,339,759...47,458,457 JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
ClinVar Annotator: match by term: Congenital muscular dystrophy
ClinVar PMID:15466003 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:24033266 PMID:24123366 PMID:25326635 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30311386 PMID:30961548 NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,641...165,235,150
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr15:84,226,953...84,501,320 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 9:85,419,401...85,711,146
Ensembl chr 9:85,415,550...85,710,752
JBrowse link
G ITGA7 integrin subunit alpha 7 ISO OMIM NCBI chr 5:21,126,565...21,150,875
Ensembl chr 5:21,126,565...21,148,776
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 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency ClinVar PMID:8957020 PMID:9158149 PMID:9541105 PMID:9674786 PMID:10611118 PMID:10852549 PMID:11071490 PMID:12100448 PMID:12552556 PMID:18414213 PMID:20207543 PMID:21520333 PMID:21896784 PMID:21953594 PMID:22166137 PMID:22426012 PMID:23326386 PMID:24082139 PMID:24223650 PMID:24225367 PMID:24611677 PMID:24957499 PMID:25525159 PMID:25587058 PMID:25741868 PMID:26467025 PMID:26607181 PMID:27159402 PMID:27353517 PMID:27854218 PMID:27896284 PMID:28182637 PMID:28492532 PMID:28688748 PMID:29706646 PMID:30055037 PMID:30301903 PMID:30827497 NCBI chr 1:33,765,412...34,359,741
Ensembl chr 1:33,867,639...34,359,698
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 chr12:47,717,898...47,738,540
Ensembl chr12:47,717,907...47,738,477
JBrowse link
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKTN fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26923585 PMID:27065010 PMID:28492532 PMID:30060766 NCBI chr 1:246,852,387...246,916,650 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 chr 1:107,588,778...107,654,679
Ensembl chr 1:107,586,031...107,655,214
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 chr13:32,246,471...32,253,162
Ensembl chr13:32,246,468...32,253,148
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 9:85,850,646...85,887,450
Ensembl chr 9:85,848,002...85,887,427
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 9:85,887,801...85,947,414
Ensembl chr 9:85,886,158...85,947,408
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO OMIM NCBI chr 9:85,419,401...85,711,146
Ensembl chr 9:85,415,550...85,710,752
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 9:85,811,382...85,844,726
Ensembl chr 9:85,803,124...85,844,803
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 9:85,743,332...85,747,893
Ensembl chr 9:85,743,335...85,747,591
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:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 PMID:30311386 NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409
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:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 PMID:30311386 NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,641...165,235,150
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 chr 2:6,043,594...6,045,220
Ensembl chr 2:6,043,494...6,045,818
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 chr13:32,028,019...32,092,450
Ensembl chr13:32,029,329...32,092,453
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 PMID:12707425 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:18036232 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:19155270 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19955119 PMID:21220724 PMID:21228398 PMID:21296577 PMID:22264518 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:27848944 PMID:28454995 PMID:28492532 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30311386 PMID:30564623 PMID:31041397 PMID:31671740 NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,482...52,639,255
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 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26636822 PMID:26923585 PMID:27065010 PMID:28492532 PMID:28785732 PMID:30060766 NCBI chr 1:246,852,387...246,916,650 JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO OMIM NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,451,080
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 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,417,173
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 chr 5:28,247,409...28,276,276
Ensembl chr 5:28,247,412...28,276,273
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 chr14:55,749,409...55,818,738
Ensembl chr14:55,749,472...55,818,012
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 chr14:55,816,663...55,901,215 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 chr17:11,928,327...11,953,139
Ensembl chr17:11,928,357...11,978,915
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 chr17:11,817,963...11,919,152
Ensembl chr17:11,817,987...11,924,884
JBrowse link
G POMK protein O-mannose kinase ISO OMIM NCBI chr17:11,957,615...11,978,919 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 chr17:11,777,942...11,817,920
Ensembl chr17:11,780,129...11,817,483
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 chr17:11,765,383...11,773,321
Ensembl chr17:11,765,148...11,817,795
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 chr 2:6,043,594...6,045,220
Ensembl chr 2:6,043,494...6,045,818
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 chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,417,173
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 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409
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: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar PMID:11709191 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17906881 PMID:19299310 PMID:20215985 PMID:21361872 PMID:22323514 PMID:22522420 PMID:25390965 PMID:25741868 PMID:26467025 PMID:27493216 PMID:28492532 NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,641...165,235,150
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 chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,482...52,639,255
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
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 chr13:26,503,610...26,526,185
Ensembl chr13:26,523,983...26,526,133
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 chr13:32,028,019...32,092,450
Ensembl chr13:32,029,329...32,092,453
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 chr14:71,550,405...71,607,067
Ensembl chr14:71,549,815...71,651,089
JBrowse link
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:25741868 NCBI chr13:118,839,314...118,899,804
Ensembl chr13:118,839,338...118,900,138
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myopathy, congenital
ClinVar Annotator: match by term: Batten Turner congenital myopathy
ClinVar Annotator: match by term: Congenital myopathy
ClinVar PMID:16084090 PMID:18414213 PMID:20080402 PMID:20839240 PMID:21911697 PMID:22473935 PMID:23035052 PMID:23394784 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24055113 PMID:24195946 PMID:25637381 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:26332594 PMID:28492532 PMID:28818389 PMID:30122538 PMID:30311386 PMID:30325262 PMID:30724636 PMID:31680123 NCBI chr 6:47,339,759...47,458,457 JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: Batten Turner congenital myopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr12:22,651,666...22,652,904
Ensembl chr12:22,651,666...22,653,453
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:25741868 NCBI chr15:84,226,953...84,501,320 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 PMID:8960317 PMID:11150980 PMID:15843272 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17384584 PMID:17412879 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19255327 PMID:19371735 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20979192 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:23406027 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24224811 PMID:25157968 PMID:25668678 PMID:25741868 PMID:25914166 PMID:26619011 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31775759 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
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 PMID:8960317 PMID:11150980 PMID:15843272 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17384584 PMID:17412879 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19255327 PMID:19371735 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20979192 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:23406027 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24224811 PMID:25157968 PMID:25668678 PMID:25741868 PMID:25914166 PMID:26619011 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31775759 NCBI chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
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 chr15:113,038,083...113,051,315
Ensembl chr15:113,034,279...113,063,231
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 chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,779
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 chr 5:82,557,975...82,651,237
Ensembl chr 5:82,557,607...82,696,126
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:11709545 PMID:11741831 PMID:12565913 PMID:14732627 PMID:14985404 PMID:16084090 PMID:16163667 PMID:16372898 PMID:16380615 PMID:16621918 PMID:16732084 PMID:16835904 PMID:16917943 PMID:16940308 PMID:17081152 PMID:17226826 PMID:17365175 PMID:17483490 PMID:17538032 PMID:18171678 PMID:18414213 PMID:18719443 PMID:19191329 PMID:19191333 PMID:19346234 PMID:19513315 PMID:19807743 PMID:20142353 PMID:20681998 PMID:20839240 PMID:20981092 PMID:21455645 PMID:21514828 PMID:21795085 PMID:21965348 PMID:22415532 PMID:22473935 PMID:22705209 PMID:22734812 PMID:22913516 PMID:22992668 PMID:22995991 PMID:23204524 PMID:23329375 PMID:23394784 PMID:23460944 PMID:23553787 PMID:23558838 PMID:23628358 PMID:24033266 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25461839 PMID:25521991 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:25960145 PMID:25985138 PMID:25989378 PMID:26332594 PMID:26467025 PMID:27147545 PMID:27153395 PMID:27555149 PMID:28492532 PMID:29178655 PMID:29382405 PMID:30122538 PMID:30311386 PMID:30325262 PMID:30724636 PMID:31135626 NCBI chr 6:47,339,759...47,458,457 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 chr13:118,839,314...118,899,804
Ensembl chr13:118,839,338...118,900,138
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
ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy
CTD
ClinVar
PMID:19562689 PMID:24642510 PMID:26172852 PMID:28492532 PMID:30311386 NCBI chr14:60,412,651...60,415,687 JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO RGD PMID:14516314 RGD:1578366 NCBI chr14:102,603,777...102,612,857
Ensembl chr14:102,603,777...102,612,839
JBrowse link
G BIN1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17676042 NCBI chr15:25,328,679...25,379,675
Ensembl chr15:25,328,674...25,383,652
JBrowse link
G CCDC78 coiled-coil domain containing 78 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:41,053,926...41,057,735
Ensembl chr 3:41,053,936...41,057,734
JBrowse link
G DNM2 dynamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17376685 NCBI chr 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424
JBrowse link
G LDB3 LIM domain binding 3 ISO RGD PMID:11696561 RGD:1581815 NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251
JBrowse link
G MTM1 myotubularin 1 ISO myotubular myopathy, OMIM:310400, DNA:point mutation:exon:p.N207S (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8640223 PMID:17376685 RGD:1600519 NCBI chr  X:122,286,904...122,379,302
Ensembl chr  X:122,286,916...122,379,299
JBrowse link
G MTMR14 myotubularin related protein 14 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:65,948,520...65,994,231
Ensembl chr13:65,948,542...66,019,078
JBrowse link
G MYF6 myogenic factor 6 ISO centronuclear myopathy, OMIM:160150, DNA:point mutation:exon:A112S RGD PMID:11053684 RGD:1600529 NCBI chr 5:100,762,918...100,764,771
Ensembl chr 5:100,762,910...100,765,704
JBrowse link
G MYH7 myosin heavy chain 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 PMID:7581410 PMID:7662452 PMID:7731997 PMID:7848420 PMID:8186698 PMID:8254035 PMID:8268932 PMID:9105042 PMID:9140839 PMID:9826622 PMID:9835779 PMID:10024460 PMID:10065021 PMID:10328076 PMID:10521296 PMID:10725281 PMID:10750581 PMID:10882745 PMID:11133230 PMID:11186938 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11861410 PMID:11861413 PMID:11968089 PMID:12081993 PMID:12707239 PMID:12818575 PMID:12820698 PMID:12975413 PMID:15010274 PMID:15136674 PMID:15358028 PMID:15483641 PMID:15528230 PMID:15563892 PMID:15856146 PMID:15858117 PMID:16199542 PMID:16267253 PMID:16630449 PMID:16858239 PMID:16918501 PMID:17125710 PMID:17438619 PMID:17560888 PMID:17612745 PMID:18029407 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18761664 PMID:19150014 PMID:19880069 PMID:20031618 PMID:20350521 PMID:20800588 PMID:21239446 PMID:21310275 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22429680 PMID:22455086 PMID:22857948 PMID:23054336 PMID:23197161 PMID:23233322 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23396983 PMID:23403236 PMID:23549607 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23751935 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24691700 PMID:24704860 PMID:24793961 PMID:25031304 PMID:25132132 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25714468 PMID:25741868 PMID:25937619 PMID:26573135 PMID:26743238 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27974200 PMID:28138913 PMID:28193612 PMID:28241245 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28606303 PMID:28615295 PMID:28790153 PMID:29121657 PMID:29212898 PMID:29300372 PMID:30297972 PMID:30511546 PMID:31333075 PMID:31568572 NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:31,012,212...31,028,008
Ensembl chr14:31,011,644...31,028,639
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:1743490 PMID:10097181 PMID:11274444 PMID:11709545 PMID:11741831 PMID:12123492 PMID:12642598 PMID:15175001 PMID:15210166 PMID:15221887 PMID:16084090 PMID:16621918 PMID:16917943 PMID:17033962 PMID:17081152 PMID:17376685 PMID:17483490 PMID:18253926 PMID:18414213 PMID:18564801 PMID:19191333 PMID:19648156 PMID:19825159 PMID:20583297 PMID:20681998 PMID:20839240 PMID:20888934 PMID:21062345 PMID:21674524 PMID:21825032 PMID:22203976 PMID:22473935 PMID:22992668 PMID:23329375 PMID:23553484 PMID:23558838 PMID:23826317 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24361844 PMID:24433488 PMID:24561095 PMID:24950660 PMID:25084811 PMID:25214167 PMID:25256590 PMID:25326635 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25989378 PMID:26633545 PMID:27854218 PMID:27857962 PMID:28224104 PMID:28259615 PMID:28403410 PMID:28492532 PMID:28818389 PMID:29172004 PMID:30155738 PMID:30236257 PMID:30611313 PMID:30788618 PMID:31055738 NCBI chr 6:47,339,759...47,458,457 JBrowse link
G SELENON selenoprotein N ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:83,246,934...83,262,748 JBrowse link
G STIM1 stromal interaction molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:6,066,612...6,270,090
Ensembl chr 9:6,066,617...6,270,575
JBrowse link
G TPM2 tropomyosin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,247...236,410,471
JBrowse link
G TPM3 tropomyosin 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:95,542,329...95,572,946
Ensembl chr 4:95,542,472...95,572,938
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 chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353
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 chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353
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 7:24,020,590...24,034,042
Ensembl chr 7:23,995,982...24,034,040
JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11359403 NCBI chr16:24,521,318...24,575,939
Ensembl chr16:24,525,394...24,588,030
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CD36 CD36 molecule ISO mRNA:increased expression:skeletal muscle RGD PMID:17572512 RGD:6893508 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO protein:expression:serum RGD PMID:22394569 RGD:9491763 NCBI chr 6:19,312,351...19,324,439 JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:9182923 RGD:8662437 NCBI chr14:100,927,305...100,954,781 JBrowse link
G HGF hepatocyte growth factor disease_progression ISO protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:20601655 RGD:4889547 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL4 interleukin 4 ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:polymorphisms:cds:p.G54D,G57E(human) RGD PMID:12485445 RGD:8693750 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:15856462 RGD:2324870 NCBI chr15:94,351,603...94,476,505
Ensembl chr15:94,351,324...94,601,889
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human) RGD PMID:22402141 RGD:8661693 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
G THBD thrombomodulin ISO RGD PMID:17899683 RGD:5685006 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TLR9 toll like receptor 9 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr13:34,353,444...34,370,990 JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
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 1:200,882,954...200,934,389
Ensembl chr 1:200,882,955...200,934,639
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 9:91,901,876...91,971,706
Ensembl chr 9:91,903,823...91,971,695
JBrowse link
G MYBPC1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr 5:82,557,975...82,651,237
Ensembl chr 5:82,557,607...82,696,126
JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353
JBrowse link
G MYLPF myosin light chain, phosphorylatable, fast skeletal muscle ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar NCBI chr 3:17,938,129...17,941,071
Ensembl chr 3:17,938,129...18,017,343
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr 6:47,339,759...47,458,457 JBrowse link
G TNNI2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Distal arthrogryposis
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal
ClinVar PMID:12592607 PMID:17101001 PMID:25741868 NCBI chr 2:1,251,566...1,253,883
Ensembl chr 2:1,251,527...1,253,893
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 chr 2:1,297,826...1,316,865
Ensembl chr 2:989,931...1,317,600
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:22581970 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 NCBI chr10:5,825,591...6,662,733 JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr12:20,141,222...20,157,341
Ensembl chr12:20,141,641...20,157,044
JBrowse link
G LOC110255887 myosin-8 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25741868 NCBI chr12:55,135,651...55,166,983
Ensembl chr12:55,134,844...55,167,749
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25741868 NCBI chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353
JBrowse link
G TPM2 tropomyosin 2 ISO OMIM NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,247...236,410,471
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 chr 5:82,557,975...82,651,237
Ensembl chr 5:82,557,607...82,696,126
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 chr 3:17,938,129...17,941,071
Ensembl chr 3:17,938,129...18,017,343
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 chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353
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 PMID:28492532 PMID:28779239 PMID:29805041 PMID:30311386 RGD:12792960 NCBI chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353
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:23850728 PMID:25741868 PMID:28492532 NCBI chr 2:1,251,566...1,253,883
Ensembl chr 2:1,251,527...1,253,893
JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO DNA:missense mutation:cds;p.Arg63His(human)
ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B
ClinVar Annotator: match by term: Distal arthrogryposis type 2B
RGD
ClinVar
PMID:10525521 PMID:12865991 PMID:18414213 PMID:19142688 PMID:21402185 PMID:25337069 PMID:25741868 PMID:28492532 RGD:1599490 NCBI chr 2:1,297,826...1,316,865
Ensembl chr 2:989,931...1,317,600
JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B ClinVar PMID:25741868 NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,247...236,410,471
JBrowse link
distal arthrogryposis type 2B1 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: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 ClinVar PMID:25741868 NCBI chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353
JBrowse link
G TNNI2 troponin I2, fast skeletal type ISO OMIM NCBI chr 2:1,251,566...1,253,883
Ensembl chr 2:1,251,527...1,253,893
JBrowse link
distal arthrogryposis type 2B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNNT3 troponin T3, fast skeletal type ISO OMIM NCBI chr 2:1,297,826...1,316,865
Ensembl chr 2:989,931...1,317,600
JBrowse link
distal arthrogryposis type 2B3 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 chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353
JBrowse link
Distal Arthrogryposis Type 2B4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B4 ClinVar PMID:17339586 PMID:23678273 PMID:27726070 PMID:30285720 NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,247...236,410,471
JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO OMIM NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,366...97,944,418
JBrowse link
distal arthrogryposis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO OMIM NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,366...97,944,418
JBrowse link
distal arthrogryposis type 5D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECEL1 endothelin converting enzyme like 1 ISO OMIM NCBI chr15:132,988,705...132,997,924
Ensembl chr15:132,931,724...132,997,750
JBrowse link
distal arthrogryposis type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Beals-Hecht syndrome
ClinVar Annotator: match by term: Hecht syndrome
ClinVar PMID:3495735 PMID:4750422 PMID:8653794 PMID:11754102 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:22325249 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:28492532 PMID:29926239 PMID:30311386 NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,152,127...131,370,466
JBrowse link
G LOC110255887 myosin-8 ISO OMIM NCBI chr12:55,135,651...55,166,983
Ensembl chr12:55,134,844...55,167,749
JBrowse link
Distal Arthrogryposis, with Impaired Proprioception and Touch term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO OMIM NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,366...97,944,418
JBrowse link
distal muscular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Myopathy, distal, 4 ClinVar PMID:25741868 NCBI chr13:136,965,746...137,133,795
Ensembl chr13:136,973,000...137,135,349
JBrowse link
G FLNC filamin C ISO OMIM NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,738...19,787,618
JBrowse link
G FRMD1 FERM domain containing 1 ISO ClinVar Annotator: match by term: Myopathy, distal, 4 ClinVar PMID:25741868 NCBI chr 1:1,507,123...1,521,669 JBrowse link
distal muscular dystrophy Tateyama type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV3 caveolin 3 ISO OMIM NCBI chr13:65,117,868...65,130,886
Ensembl chr13:65,117,776...65,134,066
JBrowse link
G SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 PMID:11805270 PMID:12269726 PMID:12807393 PMID:12839838 PMID:12939441 PMID:14633633 PMID:14672715 PMID:15318349 PMID:15564037