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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.


show annotations for term's descendants           Sort by:
 
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) ISO ClinVar Annotator: match by term: 3 Methylcrotonyl-CoA carboxylase 1 deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by OMIM:210200
OMIM
ClinVar
PMID:9187484 PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15359379 PMID:15868465 PMID:16010683 PMID:16835865 PMID:17968484 PMID:19339287 PMID:21071250 PMID:22150417 PMID:22264772 PMID:22642865 PMID:24033266 PMID:24078573 PMID:25356967 PMID:25382614 PMID:25741868 PMID:26566957 PMID:27577216 PMID:27601257 PMID:28492532 NCBI chr 3:35,956,292...36,000,694
Ensembl chr 3:35,959,312...36,000,678
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-Coenzyme A carboxylase 2 (beta) ISO ClinVar Annotator: match by term: 3-methylcrotonyl CoA carboxylase 2 deficiency
ClinVar Annotator: match by OMIM:210210
OMIM
ClinVar
PMID:1293382 PMID:7128647 PMID:8598650 PMID:9544913 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15877210 PMID:16010683 PMID:16835865 PMID:17908719 PMID:17968484 PMID:20818363 PMID:20818383 PMID:21071250 PMID:22030835 PMID:22150417 PMID:22264772 PMID:22642865 PMID:25087612 PMID:25356967 PMID:25741868 PMID:26566957 PMID:26764160 PMID:27033733 PMID:27601257 PMID:28018443 PMID:28492532 NCBI chr13:99,948,532...100,015,639
Ensembl chr13:99,948,530...100,015,639
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-Coenzyme A carboxylase 1 (alpha) ISO ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15359379 PMID:15868465 PMID:16010683 PMID:16835865 PMID:22264772 PMID:22642865 PMID:24033266 PMID:25356967 PMID:25382614 PMID:25741868 PMID:26566957 PMID:27601257 PMID:28492532 NCBI chr 3:35,956,292...36,000,694
Ensembl chr 3:35,959,312...36,000,678
JBrowse link
G Mccc2 methylcrotonoyl-Coenzyme A carboxylase 2 (beta) ISO ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar PMID:11181649 PMID:16010683 PMID:16835865 PMID:17908719 PMID:20818363 PMID:20818383 PMID:21071250 PMID:22264772 PMID:22642865 PMID:25087612 PMID:25356967 PMID:25741868 PMID:26764160 PMID:27601257 PMID:28492532 NCBI chr13:99,948,532...100,015,639
Ensembl chr13:99,948,530...100,015,639
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:18059071 PMID:18414213 PMID:19206168 PMID:19553121 PMID:19562689 PMID:20303757 PMID:20621480 PMID:21514153 PMID:21520333 PMID:22442437 PMID:22825594 PMID:23102861 PMID:23294764 PMID:23394784 PMID:23650303 PMID:24033266 PMID:24356988 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:30354303 NCBI chr 8:123,891,758...123,894,775
Ensembl chr 8:123,891,769...123,894,751
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 ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive
ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria
ClinVar Annotator: match by term: Myoglobinuria, recurrent, autosomal recessive
OMIM
ClinVar
PMID:18591397 PMID:18817903 PMID:20583302 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:16,535,669...16,653,903
Ensembl chr12:16,535,669...16,646,966
JBrowse link
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr10:24,595,442...24,598,683
Ensembl chr10:24,595,442...24,598,683
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein domain family, member 7 ISO ClinVar Annotator: match by term: Alazami syndrome
ClinVar Annotator: match by OMIM:615071
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:22865833 PMID:25741868 PMID:30006060 PMID:32860008 NCBI chr 3:127,536,714...127,553,349
Ensembl chr 3:127,536,714...127,553,349
JBrowse link
G Mir302d microRNA 302d ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 3:127,545,624...127,545,689
Ensembl chr 3:127,545,624...127,545,689
JBrowse link
G Mir367 microRNA 367 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 3:127,545,733...127,545,807
Ensembl chr 3:127,545,733...127,545,807
JBrowse link
Alcohol Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 ISO RGD PMID:14506614 RGD:1581765 NCBI chr 7:126,445,858...126,463,103
Ensembl chr 7:126,445,858...126,463,108
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 (monocarboxylic acid transporters), member 2 ISO
IEA
ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome
ClinVar Annotator: match by term: MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
OMIM:300523
ClinVar Annotator: match by OMIM:300523
OMIM
ClinVar
MouseDO
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15889350 PMID:15980113 PMID:18187543 PMID:18414213 PMID:23568789 PMID:24265446 PMID:24721225 PMID:25167861 PMID:25527620 PMID:25741868 PMID:27212794 PMID:28492532 NCBI chr  X:103,697,414...103,821,988
Ensembl chr  X:103,697,414...103,821,983
JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 NCBI chr10:58,600,780...58,675,696
Ensembl chr10:58,600,789...58,675,654
JBrowse link
G Fanci Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 7:79,392,312...79,450,266
Ensembl chr 7:79,391,929...79,450,264
JBrowse link
G Polg polymerase (DNA directed), gamma susceptibility ISO
IAGP
DNA:mutations:cds:
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
DNA:missense mutations:cds:
ClinVar
CTD
OMIM
PMID:632821 PMID:1582434 PMID:2067633 PMID:2725645 PMID:8884268 PMID:9500334 PMID:11431686 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15800909 PMID:15824347 PMID:15913923 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16715201 PMID:16857757 PMID:16919951 PMID:16929381 PMID:16940310 PMID:16943369 PMID:16957900 PMID:17067213 PMID:17088268 PMID:17280874 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17502560 PMID:17538929 PMID:17846414 PMID:17894835 PMID:17923349 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19275594 PMID:19307547 PMID:19344718 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19837034 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21305355 PMID:21357833 PMID:21455106 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID:22470557 PMID:22494076 PMID:22552686 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22778364 PMID:22863191 PMID:22931735 PMID:22933815 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23665194 PMID:23719791 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25065347 PMID:25118206 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25466440 PMID:25488682 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25771874 PMID:25850945 PMID:25914719 PMID:25940035 PMID:26050231 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28284481 PMID:28337550 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29272804 PMID:29278894 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29644085 PMID:29712893 PMID:29915382 PMID:29920680 PMID:29950568 PMID:29992832 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30373890 PMID:30423451 PMID:30831263 PMID:30843307, PMID:15689359, PMID:20142534, PMID:16896309, PMID:22237560 RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr 7:79,374,865...79,392,250
Ensembl chr 7:79,374,870...79,387,048
JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator 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 chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Foxo1 forkhead box O1 ISO OMIM NCBI chr 3:52,268,337...52,350,109
Ensembl chr 3:52,268,336...52,353,221
JBrowse link
G Pax3 paired box 3 ISO
IEA
DNA:translocations: (human)
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma
OMIM:268220
ClinVar
MouseDO
OMIM
PMID:24033266 PMID:25741868, PMID:15313887 RGD:1580944 NCBI chr 1:78,101,267...78,197,136
Ensembl chr 1:78,101,267...78,197,134
JBrowse link
G Pax7 paired box 7 ISO ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 OMIM
ClinVar
PMID:25741868 PMID:31092906 PMID:32214227 NCBI chr 4:139,737,059...139,833,530
Ensembl chr 4:139,737,062...139,833,528
JBrowse link
G Trp73 transformation related protein 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 4:154,056,249...154,139,875
Ensembl chr 4:154,056,253...154,140,208
Ensembl chr 4:154,056,253...154,140,208
JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 3:57,455,644...57,575,910
Ensembl chr 3:57,455,649...57,575,910
JBrowse link
alveolar soft part sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspscr1 alveolar soft part sarcoma chromosome region, candidate 1 (human) ISO OMIM NCBI chr11:120,672,973...120,709,447
Ensembl chr11:120,672,973...120,709,447
JBrowse link
Amyopathic Dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphism: :HLA-DQA1*0501;
DNA:polymorphism (human)
RGD PMID:18671865, PMID:8666549, PMID:15067086 RGD:5147790, RGD:8547569, RGD:5147796 NCBI chr17:34,282,744...34,287,823
Ensembl chr17:34,282,744...34,287,823
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 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 21
ClinVar Annotator: match by term: Myopathy, distal, 2
ClinVar Annotator: match by OMIM:606070
OMIM
ClinVar
PMID:9837826 PMID:19344878 PMID:24686783 PMID:25154462 PMID:25185957 PMID:25677933 PMID:25741868 PMID:25771394 PMID:25952333 PMID:26467025 PMID:26493020 PMID:26528920 PMID:26780671 PMID:28492532 PMID:29525178 NCBI chr18:35,562,158...35,592,045
Ensembl chr18:35,562,138...35,593,835
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 chr 1:64,532,794...64,604,548
Ensembl chr 1:64,532,645...64,604,548
JBrowse link
antisynthetase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta ISO ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018 PMID:24195946 PMID:25741868 PMID:28492532 PMID:30611313 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
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 ISO
IMP
ClinVar Annotator: match by term: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
DNA:frameshift mutation:cds:c.625_626delA (human)
DNA:deletion, missense mutation, snp:cds, intron:p.K208del, p.R377H, g.IVS9+5G>C (human)
DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar
OMIM
PMID:1839274 PMID:1849984 PMID:2280636 PMID:8619549 PMID:9106535 PMID:10080180 PMID:10612827 PMID:10655060 PMID:10662742 PMID:10739764 PMID:10814726 PMID:10939567 PMID:11138304 PMID:11503164 PMID:11561226 PMID:11731280 PMID:11792809 PMID:11901143 PMID:12032588 PMID:12057196 PMID:12075506 PMID:12196663 PMID:12628721 PMID:12629077 PMID:12649505 PMID:12673789 PMID:12748643 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14684700 PMID:14749366 PMID:15053843 PMID:15140538 PMID:15148145 PMID:15205219 PMID:15372542 PMID:15475483 PMID:15668447 PMID:15744034 PMID:15998779 PMID:16174718 PMID:16218190 PMID:16386954 PMID:16440304 PMID:16772334 PMID:17136397 PMID:17274801 PMID:17377071 PMID:18035086 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18551513 PMID:18551515 PMID:18564364 PMID:18604166 PMID:18646565 PMID:18795223 PMID:19084400 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19524666 PMID:19589617 PMID:19638735 PMID:19680556 PMID:19882644 PMID:19933576 PMID:20301609 PMID:20376791 PMID:20498703 PMID:20848652 PMID:20886652 PMID:20980393 PMID:21173262 PMID:21315846 PMID:21465660 PMID:21520333 PMID:21535365 PMID:21632249 PMID:21840938 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22431096 PMID:22464770 PMID:22883396 PMID:22918509 PMID:23077635 PMID:23183350 PMID:23328570 PMID:23349452 PMID:23362510 PMID:23427149 PMID:23497705 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24237251 PMID:24349489 PMID:24375749 PMID:24503780 PMID:24508248 PMID:24642510 PMID:24656463 PMID:24721642 PMID:24768879 PMID:24806962 PMID:24846508 PMID:24990833 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25326637 PMID:25637381 PMID:25741868 PMID:25823658 PMID:25948554 PMID:25982065 PMID:25987458 PMID:26098624 PMID:26165385 PMID:26183555 PMID:26332594 PMID:26443318 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27220833 PMID:27532257 PMID:27585670 PMID:27717888 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:29040816 PMID:29057633 PMID:29149195 PMID:29237675 PMID:29676528 PMID:29753763 PMID:29791652 PMID:29893365 PMID:30055862 PMID:30165862, PMID:17446932, PMID:17701980, PMID:10814726, PMID:10080180 RGD:2306094, RGD:12791273, RGD:11062274, RGD:12791020 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
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 (alpha) 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 chr10:4,611,989...5,005,633
Ensembl chr10:4,611,593...5,005,614
JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 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 Annotator: match by term: Emery-dreifuss muscular dystrophy 4, autosomal dominant
ClinVar
OMIM
PMID:17761684 PMID:18414213 PMID:21572417 PMID:22287014 PMID:23352163 PMID:23959263 PMID:24123366 PMID:24123876 PMID:24892279 PMID:25133958 PMID:25214167 PMID:25401298 PMID:25741868 PMID:25976027 PMID:26467025 PMID:26539891 PMID:26770814 PMID:26870756 PMID:27066551 PMID:27086870 PMID:27178001 PMID:27197992 PMID:27305979 PMID:28017257 PMID:28074886 PMID:28178086 PMID:28492532 PMID:28750076 PMID:29625556 PMID:29961767 PMID:30029642 PMID:30275942 PMID:30564623 NCBI chr10:5,020,192...5,550,692
Ensembl chr10:5,020,917...5,551,482
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 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant
ClinVar Annotator: match by term: Emery-dreifuss muscular dystrophy 5, autosomal dominant
ClinVar
OMIM
PMID:17761684 PMID:18414213 PMID:22995991 PMID:25179549 PMID:25214167 PMID:25587064 PMID:25741868 PMID:26094658 PMID:26467025 PMID:27632638 PMID:28074886 PMID:28492532 PMID:28798025 NCBI chr12:75,818,318...76,110,928
Ensembl chr12:75,818,134...76,110,926
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 ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant
ClinVar Annotator: match by OMIM:614302
OMIM
ClinVar
PMID:21391237 PMID:21636032 PMID:23812740 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:91,473,707...91,488,463
Ensembl chr 6:91,473,703...91,488,463
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 polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS
ClinVar Annotator: match by term: Myosin storage myopathy
DNA:missense mutation: :p.R1845W (23014C>T) (human)
OMIM
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:8533830 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:12379228 PMID:12707239 PMID:12818575 PMID:12820698 PMID:12975413 PMID:14520662 PMID:15010274 PMID:15136674 PMID:15358028 PMID:15483641 PMID:15528230 PMID:15556047 PMID:15563892 PMID:15699387 PMID:15757018 PMID:15769782 PMID:15856146 PMID:15858117 PMID:16115294 PMID:16137545 PMID:16199542 PMID:16253604 PMID:16267253 PMID:16630449 PMID:16858239 PMID:16918501 PMID:17118657 PMID:17125710 PMID:17336526 PMID:17438619 PMID:17476457 PMID:17560888 PMID:17612745 PMID:18029407 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18555187 PMID:18761664 PMID:18953637 PMID:19149795 PMID:19150014 PMID:19336582 PMID:19412328 PMID:19645038 PMID:19880069 PMID:20031618 PMID:20086309 PMID:20350521 PMID:20376763 PMID:20474083 PMID:20664766 PMID:20800588 PMID:20817590 PMID:20975235 PMID:21127202 PMID:21239446 PMID:21302287 PMID:21310275 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22337857 PMID:22429680 PMID:22455086 PMID:22763267 PMID:22765922 PMID:22857948 PMID:22958901 PMID:23054336 PMID:23074333 PMID:23197161 PMID:23233322 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23349452 PMID:23396983 PMID:23403236 PMID:23508784 PMID:23549607 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23751935 PMID:23785128 PMID:23794396 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24691700 PMID:24704860 PMID:24721642 PMID:24793961 PMID:25031304 PMID:25086479 PMID:25125180 PMID:25132132 PMID:25163446 PMID:25163546 PMID:25342278 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25649125 PMID:25714468 PMID:25741868 PMID:25937619 PMID:26220970 PMID:26332594 PMID:26458567 PMID:26467025 PMID:26497160 PMID:26573135 PMID:26688388 PMID:26743238 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27532257 PMID:27576561 PMID:27600940 PMID:27707468 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27854218 PMID:27974200 PMID:28138913 PMID:28193612 PMID:28241245 PMID:28356264 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28588093 PMID:28606303 PMID:28615295 PMID:28790153 PMID:28798025 PMID:28878402 PMID:29121657 PMID:29212898 PMID:29300372 PMID:30297972 PMID:30511546 PMID:30871747 PMID:31006259 PMID:31333075 PMID:31493341 PMID:31568572, PMID:14520662 RGD:12792959 NCBI chr14:54,970,684...54,994,626
Ensembl chr14:54,970,684...54,994,626
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 ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1E
ClinVar Annotator: match by OMIM:603511
OMIM
ClinVar
PMID:9973293 PMID:10489050 PMID:20682716 PMID:21376592 PMID:22334415 PMID:22366786 PMID:24033266 PMID:24594375 PMID:24920671 PMID:25741868 PMID:26205529 PMID:26371419 PMID:26467025 PMID:26847086 PMID:27642634 PMID:27671536 PMID:28233300 PMID:28492532 PMID:28794355 PMID:30564623 NCBI chr 5:29,735,898...29,786,478
Ensembl chr 5:29,735,688...29,818,134
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 ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F OMIM
ClinVar
PMID:11222786 PMID:23543484 PMID:23667635 PMID:25741868 PMID:28492532 NCBI chr 6:29,540,827...29,609,858
Ensembl chr 6:29,540,827...29,609,887
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 ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:15367920 PMID:24647604 PMID:25741868 PMID:28492532 NCBI chr 5:100,033,577...100,039,936
Ensembl chr 5:100,033,577...100,039,664
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 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I
OMIM
ClinVar
PMID:7720071 PMID:8624690 PMID:9150160 PMID:9266733 PMID:9642272 PMID:10102422 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16627476 PMID:16650086 PMID:17236769 PMID:17318636 PMID:17994539 PMID:18055493 PMID:19156839 PMID:19556129 PMID:20635405 PMID:21204801 PMID:21984748 PMID:22443334 PMID:25741868 PMID:26467025 PMID:27066545 PMID:27142102 PMID:27259757 PMID:27708273 PMID:28492532 PMID:28602176 PMID:28881388 NCBI chr 2:120,463,593...120,504,919
Ensembl chr 2:120,463,572...120,504,918
Ensembl chr 2:120,463,572...120,504,918
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 Fanconi anemia, 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 7:79,392,312...79,450,266
Ensembl chr 7:79,391,929...79,450,264
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
ClinVar Annotator: match by OMIM:157640
OMIM
ClinVar
PMID:632821 PMID:2067633 PMID:2725645 PMID:11431686 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12565911 PMID:12872260 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 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:16929381 PMID:16940310 PMID:16943369 PMID:17088268 PMID:17420318 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:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22237560 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:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23783014 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25585994 PMID:25741868 PMID:25850945 PMID:26095671 PMID:26104464 PMID:26357557 PMID:26467025 PMID:26557169 PMID:26735972 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28284481 PMID:28337550 PMID:28471437 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28901595 PMID:29029963 PMID:29190809 PMID:29341116 PMID:29474836 PMID:29482223 PMID:29588995 PMID:29992832 PMID:30255931 PMID:30290626 PMID:30373890 PMID:30843307 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
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 chr19:45,005,663...45,012,764
Ensembl chr19:45,005,663...45,012,762
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 (mitochondrial carrier, adenine nucleotide translocator), member 4 ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
ClinVar Annotator: match by OMIM:609283
OMIM
ClinVar
PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 PMID:16155110 PMID:25741868 PMID:28492532 NCBI chr 8:46,207,168...46,211,062
Ensembl chr 8:46,206,797...46,211,284
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 ClinVar Annotator: match by OMIM:609286
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
ClinVar
OMIM
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:15668446 PMID:17614277 PMID:19353676 PMID:19513767 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:28492532 PMID:28812649 PMID:29458409 NCBI chr19:45,005,663...45,012,764
Ensembl chr19:45,005,663...45,012,762
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 chr11:106,750,646...106,768,794
Ensembl chr11:106,751,226...106,768,794
JBrowse link
G Polg2 polymerase (DNA directed), gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
ClinVar Annotator: match by OMIM:610131
OMIM
ClinVar
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:28492532 NCBI chr11:106,768,204...106,779,537
Ensembl chr11:106,768,253...106,779,537
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 M2 B (TP53 inducible) ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
ClinVar Annotator: match by OMIM:613077
OMIM
ClinVar
PMID:19664747 PMID:21646632 PMID:26467025 PMID:28492532 PMID:28812649 NCBI chr15:37,923,952...37,961,119
Ensembl chr15:37,923,952...37,961,318
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 ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6
ClinVar Annotator: match by OMIM:615156
OMIM
ClinVar
PMID:23352259 PMID:25741868 NCBI chr10:62,946,983...62,974,188
Ensembl chr10:62,947,026...62,974,185
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 ClinVar Annotator: match by OMIM:255200
ClinVar Annotator: match by term: Autosomal recessive centronuclear myopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive
ClinVar
CTD
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 chr18:32,376,618...32,435,740
Ensembl chr18:32,377,230...32,435,737
JBrowse link
G Speg SPEG complex locus ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:75,375,297...75,432,320
Ensembl chr 1:75,375,297...75,432,320
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 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive
ClinVar
OMIM
PMID:2007407 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11136544 PMID:11792809 PMID:12927424 PMID:15205219 PMID:16181372 PMID:16364671 PMID:16415042 PMID:18414213 PMID:18728124 PMID:19011997 PMID:19201734 PMID:19418082 PMID:19859838 PMID:20130076 PMID:20625965 PMID:21465660 PMID:22224630 PMID:22266370 PMID:22431096 PMID:22464770 PMID:22700598 PMID:23183350 PMID:23313286 PMID:23427149 PMID:23853504 PMID:23861362 PMID:24033266 PMID:24503780 PMID:24846508 PMID:25741868 PMID:26467025 PMID:26602028 PMID:26662654 PMID:27532257 PMID:27585670 PMID:27723096 PMID:28492532 PMID:29149195 PMID:29237675 PMID:30165862 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
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 polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Myopathy, myosin storage, autosomal recessive OMIM
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:14659406 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:17372140 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:19336582 PMID:19880069 PMID:20031618 PMID:20350521 PMID:20513729 PMID:20800588 PMID:21239446 PMID:21310275 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22429680 PMID:22455086 PMID:22857948 PMID:22958901 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:25666907 PMID:25714468 PMID:25741868 PMID:25937619 PMID:26468400 PMID:26573135 PMID:26743238 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27066506 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27532257 PMID:27600940 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27974200 PMID:28125727 PMID:28138913 PMID:28193612 PMID:28241245 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28606303 PMID:28615295 PMID:28771489 PMID:28790153 PMID:28807990 PMID:28973424 PMID:29121657 PMID:29212898 PMID:29300372 PMID:30297972 PMID:30511546 PMID:31006259 PMID:31333075 PMID:31493341 PMID:31568572 NCBI chr14:54,970,684...54,994,626
Ensembl chr14:54,970,684...54,994,626
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 7:51,510,007...51,598,707
Ensembl chr 7:51,511,029...51,598,709
JBrowse link
G Astn2 astrotactin 2 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 4:65,380,803...66,404,537
Ensembl chr 4:65,380,803...66,404,611
JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, 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 NCBI chr 2:120,463,593...120,504,919
Ensembl chr 2:120,463,572...120,504,918
Ensembl chr 2:120,463,572...120,504,918
JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive ClinVar PMID:9536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 PMID:17060380 PMID:17210839 PMID:17275750 PMID:19380584 PMID:20472890 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26467025 PMID:26498160 PMID:27483260 PMID:27930701 PMID:28492532 PMID:29961767 PMID:30055862 NCBI chr 6:112,459,505...112,472,872
Ensembl chr 6:112,459,505...112,472,872
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 6:84,008,361...84,211,060
Ensembl chr 6:84,008,590...84,211,060
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 NCBI chr 7:16,809,267...16,816,732
Ensembl chr 7:16,809,246...16,816,732
JBrowse link
G Lmna lamin A 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:21465660 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24721642 PMID:25741868 PMID:26467025 PMID:26602028 PMID:27896052 PMID:28492532 PMID:28679633 PMID:28785654 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive
ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:23326386 PMID:23894383 PMID:25741868 PMID:26013959 PMID:28424332 PMID:28492532 PMID:28688748 NCBI chr 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
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 2:32,236,590...32,255,005
Ensembl chr 2:32,236,590...32,255,005
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
ClinVar PMID:17923109 RGD:11532762 NCBI chr12:87,106,861...87,147,968
Ensembl chr12:87,106,861...87,147,968
JBrowse link
G Sacs sacsin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr14:61,138,421...61,240,693
Ensembl chr14:61,138,457...61,240,695
JBrowse link
G Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) 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 chr11:94,962,777...94,976,327
Ensembl chr11:94,962,791...94,976,327
JBrowse link
G Sgcb sarcoglycan, beta (dystrophin-associated glycoprotein) 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 5:73,632,749...73,647,737
Ensembl chr 5:73,632,749...73,647,790
JBrowse link
G Sgcd sarcoglycan, delta (dystrophin-associated glycoprotein) 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 chr11:46,971,077...47,989,451
Ensembl chr11:46,896,253...47,988,969
JBrowse link
G Sgcg sarcoglycan, gamma (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:61,219,106...61,275,062
Ensembl chr14:61,219,115...61,258,490
JBrowse link
G Trim32 tripartite motif-containing 32 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 4:65,604,986...65,616,240
Ensembl chr 4:65,604,986...65,616,238
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:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:23326386 PMID:23894383 PMID:25741868 PMID:26013959 PMID:28424332 PMID:28492532 PMID:28688748 NCBI chr 4:116,161,881...116,167,621
Ensembl chr 4:116,161,869...116,167,601
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, 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:27066507 PMID:28492532 PMID:28822653 NCBI chr 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
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, alpha 2 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 ClinVar
OMIM
PMID:9158149 PMID:21953594 PMID:22166137 PMID:24957499 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27353517 PMID:27854218 PMID:28492532 NCBI chr10:26,981,285...27,617,191
Ensembl chr10:26,980,036...27,619,758
JBrowse link
G Trappc11 trafficking protein particle complex 11 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 ClinVar PMID:23830518 PMID:25741868 PMID:28492532 PMID:29158550 PMID:31575891 NCBI chr 8:47,490,128...47,533,470
Ensembl chr 8:47,490,115...47,533,470
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 beta 1,4-N-acetylglucosaminyltransferase 2 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 ClinVar
OMIM
PMID:25741868 PMID:27066570 NCBI chr 9:121,981,606...121,996,053
Ensembl chr 9:121,981,606...121,997,110
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 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 OMIM
ClinVar
PMID:31610034 NCBI chr10:45,289,305...45,318,450
Ensembl chr10:45,178,098...45,318,452
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
IEA
IMP
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A
ClinVar Annotator: match by term: Leyden-Moebius muscular dystrophy
ClinVar Annotator: match by term: Calpainopathy
OMIM:253600
ClinVar Annotator: match by OMIM:253600
OMIM
ClinVar
MouseDO
PMID:1691480 PMID:7318636 PMID:7720071 PMID:7762565 PMID:7795603 PMID:8624690 PMID:9150160 PMID:9246005 PMID:9266733 PMID:9452114 PMID:9642272 PMID:9655129 PMID:9762961 PMID:9771675 PMID:9777948 PMID:10102422 PMID:10330340 PMID:10567047 PMID:10679950 PMID:11053681 PMID:11166169 PMID:11245732 PMID:11297944 PMID:11371436 PMID:11525884 PMID:11731278 PMID:12461690 PMID:12890817 PMID:14578192 PMID:14645990 PMID:14981715 PMID:15138196 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:15733273 PMID:15843148 PMID:15884399 PMID:16001438 PMID:16100770 PMID:16141003 PMID:16372320 PMID:16411092 PMID:16542520 PMID:16607617 PMID:16627476 PMID:16650086 PMID:16971480 PMID:17157502 PMID:17236769 PMID:17258832 PMID:17318636 PMID:17526799 PMID:17562833 PMID:17702496 PMID:17897828 PMID:17979987 PMID:17994539 PMID:18055493 PMID:18073330 PMID:18258189 PMID:18334579 PMID:18337726 PMID:18414213 PMID:18563459 PMID:18854868 PMID:18854869 PMID:19015733 PMID:19048948 PMID:19156839 PMID:19226146 PMID:19285864 PMID:19364062 PMID:19556129 PMID:19835634 PMID:20044116 PMID:20517216 PMID:20580976 PMID:20635405 PMID:20694146 PMID:21172462 PMID:21204801 PMID:21288883 PMID:21386772 PMID:21520333 PMID:21624972 PMID:21896784 PMID:21984748 PMID:22006685 PMID:22057634 PMID:22079131 PMID:22158424 PMID:22378277 PMID:22443334 PMID:22505582 PMID:22926650 PMID:23169433 PMID:23553538 PMID:23666804 PMID:23677060 PMID:23757202 PMID:23821418 PMID:23864287 PMID:24033266 PMID:24715573 PMID:24803842 PMID:24846670 PMID:25046369 PMID:25079074 PMID:25135358 PMID:25214167 PMID:25215589 PMID:25252031 PMID:25326637 PMID:25512505 PMID:25525159 PMID:25741868 PMID:25987458 PMID:26060040 PMID:26301378 PMID:26404900 PMID:26467025 PMID:26484845 PMID:26501342 PMID:26583491 PMID:26632398 PMID:26677118 PMID:26810512 PMID:26886200 PMID:27011640 PMID:27020652 PMID:27023906 PMID:27055500 PMID:27066545 PMID:27066551 PMID:27066573 PMID:27081656 PMID:27142102 PMID:27234031 PMID:27259757 PMID:27262448 PMID:27363342 PMID:27431290 PMID:27447704 PMID:27500519 PMID:27558075 PMID:27671536 PMID:27708273 PMID:27854218 PMID:27884173 PMID:28300015 PMID:28403181 PMID:28492532 PMID:28602176 PMID:28881388 PMID:28915917 PMID:29685414 PMID:29797799 PMID:29970176 PMID:30028523 PMID:30056071 PMID:30107846 PMID:30323756 PMID:30564623 PMID:30919934 PMID:205172126, PMID:10814721 RGD:734687 NCBI chr 2:120,463,593...120,504,919
Ensembl chr 2:120,463,572...120,504,918
Ensembl chr 2:120,463,572...120,504,918
JBrowse link
G Cbs cystathionine beta-synthase ISO ClinVar Annotator: match by term: Calpainopathy ClinVar PMID:25326637 NCBI chr17:31,612,623...31,637,233
Ensembl chr17:31,608,894...31,637,238
JBrowse link
G Fanca Fanconi anemia, complementation group A ISO ClinVar Annotator: match by term: Calpainopathy ClinVar PMID:27854218 PMID:28492532 NCBI chr 8:123,266,294...123,318,651
Ensembl chr 8:123,268,300...123,318,576
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 2:120,463,593...120,504,919
Ensembl chr 2:120,463,572...120,504,918
Ensembl chr 2:120,463,572...120,504,918
JBrowse link
G Dysf dysferlin ISO
IEA
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B
OMIM:253601
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:253601
OMIM
ClinVar
MouseDO
CTD
PMID:1483054 PMID:2764718 PMID:8808603 PMID:9731526 PMID:9731527 PMID:10196377 PMID:10766988 PMID:11053681 PMID:11468312 PMID:11532985 PMID:12471055 PMID:12796534 PMID:14673575 PMID:14678801 PMID:15293763 PMID:15469449 PMID:15477515 PMID:15535137 PMID:15827562 PMID:15835269 PMID:16010686 PMID:16087766 PMID:16100712 PMID:16606933 PMID:16705711 PMID:16891820 PMID:16934466 PMID:16996541 PMID:17070050 PMID:17287450 PMID:17331981 PMID:17562833 PMID:17698709 PMID:17825554 PMID:17828519 PMID:17897828 PMID:17994539 PMID:18276788 PMID:18294055 PMID:18306167 PMID:18392839 PMID:18832576 PMID:18853459 PMID:19015158 PMID:19084402 PMID:19154541 PMID:19493611 PMID:19528035 PMID:19953532 PMID:20301480 PMID:20497525 PMID:20535123 PMID:20544924 PMID:20558759 PMID:20623375 PMID:20817457 PMID:21173544 PMID:21520333 PMID:21522182 PMID:21816046 PMID:22057634 PMID:22174839 PMID:22194990 PMID:22246893 PMID:22297152 PMID:22318734 PMID:22616201 PMID:22849992 PMID:22995991 PMID:23185377 PMID:23243261 PMID:23254335 PMID:23406536 PMID:23519732 PMID:23530687 PMID:23641709 PMID:23757202 PMID:24033266 PMID:24123366 PMID:24239059 PMID:24438169 PMID:24488599 PMID:24838345 PMID:25135358 PMID:25143362 PMID:25312915 PMID:25326637 PMID:25493284 PMID:25525159 PMID:25574751 PMID:25591676 PMID:25591678 PMID:25741868 PMID:25783436 PMID:25807536 PMID:25821721 PMID:25868377 PMID:25898921 PMID:25900324 PMID:25987458 PMID:26000923 PMID:26060040 PMID:26088049 PMID:26273692 PMID:26290895 PMID:26404900 PMID:26436962 PMID:26467025 PMID:26579332 PMID:26671124 PMID:26806107 PMID:26916285 PMID:27066573 PMID:27195159 PMID:27229680 PMID:27290639 PMID:27363342 PMID:27447704 PMID:27602406 PMID:27641898 PMID:27647186 PMID:27666772 PMID:27821570 PMID:27854218 PMID:27858744 PMID:27884173 PMID:28104817 PMID:28403181 PMID:28492532 PMID:28600779 PMID:28877744 PMID:29138090 PMID:29382405 PMID:29797799 PMID:29970176 PMID:30098242 PMID:30107846 PMID:30292141 PMID:30366248 PMID:30564623 PMID:32860008 NCBI chr 6:84,008,361...84,211,060
Ensembl chr 6:84,008,590...84,211,060
JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868 PMID:31263448 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 ClinVar PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 PMID:29300372 NCBI chr14:54,970,684...54,994,626
Ensembl chr14:54,970,684...54,994,626
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO protein:increased expression:muscle: RGD PMID:27558075 RGD:13210781 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
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 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 chr14:61,138,421...61,240,693
Ensembl chr14:61,138,457...61,240,695
JBrowse link
G Sgcg sarcoglycan, gamma (dystrophin-associated glycoprotein) ISO
IEA
ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C
DNA:mutation:cds: c.787G>A (p.Glu263Lys)(human)
OMIM:253700
ClinVar Annotator: match by OMIM:253700
OMIM
ClinVar
MouseDO
PMID:1303286 PMID:7481775 PMID:8923014 PMID:8968757 PMID:9658457 PMID:9673983 PMID:9781048 PMID:10447257 PMID:10874299 PMID:10942431 PMID:12040521 PMID:12566530 PMID:14981741 PMID:15322984 PMID:15479193 PMID:16832103 PMID:18285821 PMID:18414213 PMID:18421900 PMID:19770540 PMID:20345928 PMID:20623375 PMID:22095924 PMID:22240777 PMID:23929688 PMID:24033266 PMID:24534832 PMID:24552312 PMID:25605665 PMID:25741868 PMID:25802879 PMID:26467025 PMID:27708273 PMID:28492532 PMID:32214227, PMID:25802879 RGD:13605619 NCBI chr14:61,219,106...61,275,062
Ensembl chr14:61,219,115...61,258,490
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr 9:108,204,861...108,263,977
Ensembl chr 9:108,204,634...108,263,958
JBrowse link
G Sacs sacsin ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr14:61,138,421...61,240,693
Ensembl chr14:61,138,457...61,240,695
JBrowse link
G Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) treatment ISO
IEA
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D
ClinVar Annotator: match by term: Sarcoglycanopathy
ClinVar Annotator: match by term: Sarcoglycanopathies
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2D
OMIM:608099
ClinVar Annotator: match by OMIM:608099
OMIM
ClinVar
MouseDO
PMID:7657792 PMID:7663524 PMID:7668821 PMID:8069911 PMID:8528203 PMID:8866424 PMID:9032047 PMID:9153448 PMID:9192266 PMID:9266733 PMID:9455986 PMID:9585331 PMID:10842281 PMID:10942431 PMID:10993494 PMID:11121445 PMID:11475588 PMID:11693784 PMID:12075495 PMID:12566530 PMID:12746421 PMID:14595658 PMID:15298081 PMID:15736300 PMID:15833425 PMID:16616845 PMID:16778590 PMID:16787395 PMID:17562833 PMID:17994539 PMID:18252745 PMID:18285821 PMID:18414213 PMID:18421900 PMID:18535179 PMID:18996010 PMID:19781108 PMID:19798725 PMID:21031578 PMID:21856579 PMID:22095924 PMID:22303798 PMID:24033266 PMID:24464767 PMID:24565866 PMID:24742800 PMID:25046369 PMID:25135358 PMID:25214167 PMID:25741868 PMID:26404900 PMID:26453141 PMID:26467025 PMID:26916285 PMID:26934379 PMID:26944168 PMID:27066551 PMID:27120200 PMID:27363342 PMID:28403181 PMID:28492532 PMID:29351619 PMID:30107846 PMID:30703231 PMID:30764848, PMID:17653106 RGD:13605612 NCBI chr11:94,962,777...94,976,327
Ensembl chr11:94,962,791...94,976,327
JBrowse link
G Sgcg sarcoglycan, gamma (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:61,219,106...61,275,062
Ensembl chr14:61,219,115...61,258,490
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 chr15:98,949,847...98,953,501
Ensembl chr15:98,949,837...98,953,703
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 (dystrophin-associated glycoprotein) treatment ISO
IMP
IEA
ClinVar Annotator: match by term: Beta-sarcoglycan limb-girdle muscular dystrophy
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2E
OMIM:604286
ClinVar Annotator: match by OMIM:604286
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:7581448 PMID:7581449 PMID:8968749 PMID:9032047 PMID:9565988 PMID:9631401 PMID:10660328 PMID:10662809 PMID:10874299 PMID:10942431 PMID:10993494 PMID:11166169 PMID:11369190 PMID:12566530 PMID:12868499 PMID:15032976 PMID:15938573 PMID:15938574 PMID:16524571 PMID:17994539 PMID:18285821 PMID:18996010 PMID:19770540 PMID:20071171 PMID:21480868 PMID:22095924 PMID:23349452 PMID:25135358 PMID:25337728 PMID:25525159 PMID:25741868 PMID:25862795 PMID:26206375 PMID:26404900 PMID:26467025 PMID:26990548 PMID:27671536 PMID:28403181 PMID:28492532 PMID:28687063 PMID:28883879 PMID:29970176, PMID:28284983, PMID:10678176 RGD:13605613, RGD:13605614 NCBI chr 5:73,632,749...73,647,737
Ensembl chr 5:73,632,749...73,647,790
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 (dystrophin-associated glycoprotein) ISO
IEA
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2F
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2f, digenic
OMIM:601287
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601287
OMIM
ClinVar
MouseDO
CTD
PMID:8841194 PMID:9832045 PMID:10735275 PMID:10838250 PMID:10974018 PMID:12794684 PMID:14564412 PMID:16432241 PMID:17164264 PMID:17994539 PMID:18285821 PMID:18414213 PMID:19259135 PMID:19770540 PMID:19771157 PMID:20675662 PMID:22095924 PMID:22337857 PMID:23695275 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25637381 PMID:25741868 PMID:26077850 PMID:26084686 PMID:26467025 PMID:26633542 PMID:26968544 PMID:27532257 PMID:28401079 PMID:28492532 PMID:28687063 NCBI chr11:46,971,077...47,989,451
Ensembl chr11:46,896,253...47,988,969
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
IEA
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2G
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2G
OMIM:601954
ClinVar Annotator: match by OMIM:601954
OMIM
ClinVar
MouseDO
PMID:10655062 PMID:15582318 PMID:16911908 PMID:18414213 PMID:18585512 PMID:19035361 PMID:19412328 PMID:20215591 PMID:20474083 PMID:22194935 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24037902 PMID:24503780 PMID:25326637 PMID:25741868 PMID:26332198 PMID:26350513 PMID:26467025 PMID:27532257 PMID:28492532 PMID:30871747 PMID:31303467 NCBI chr11:98,383,811...98,384,953
Ensembl chr11:98,383,811...98,384,953
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 NCBI chr 4:65,380,803...66,404,537
Ensembl chr 4:65,380,803...66,404,611
JBrowse link
G Trim32 tripartite motif-containing 32 ISO
IEA
ClinVar Annotator: match by term: Sarcotubular myopathy
OMIM:254110
ClinVar Annotator: match by OMIM:254110
OMIM
ClinVar
MouseDO
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 NCBI chr 4:65,604,986...65,616,240
Ensembl chr 4:65,604,986...65,616,238
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
IEA
DNA:deletion, missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
OMIM:607155
DNA:deletion, missense mutations:exon:p.L319R (c.956T>G), p.P442L (c.1325C>T), c.1136delG (human)
DNA:missense mutation:exon:p.L276I (826C>A) (human)
DNA:missense mutation: :pP89A (human)
DNA:duplications, missense mutations:exon:multiple
DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human)
DNA:missense mutations: :1364C>A, 1486T>A (human)
ClinVar Annotator: match by OMIM:607155
ClinVar
MouseDO
OMIM
PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14523375 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833426 PMID:15833432 PMID:15886712 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17055682 PMID:17113772 PMID:17336067 PMID:17446099 PMID:17554798 PMID:17559086 PMID:17952692 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18160674 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:18691338 PMID:18752264 PMID:18832576 PMID:19155270 PMID:19244252 PMID:19299310 PMID:19820980 PMID:19833706 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20623375 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21296577 PMID:21816046 PMID:22264518 PMID:22908982 PMID:22981120 PMID:22983245 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24139536 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26363967 PMID:26436962 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:26990548 PMID:27439679 PMID:27671536 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28454995 PMID:28492532 PMID:28688748 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30564623 PMID:31041397 PMID:31671740, PMID:11741828, PMID:17994539, PMID:15580560, PMID:17113772, PMID:16634037, PMID:21296577, PMID:18671187, PMID:25048216 RGD:1598944, RGD:11063285, RGD:11667967, RGD:11667966, RGD:11667965, RGD:11667964, RGD:11667963, RGD:11667961 NCBI chr 7:16,809,267...16,816,732
Ensembl chr 7:16,809,246...16,816,732
JBrowse link
G Strn4 striatin, calmodulin binding protein 4 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED ClinVar PMID:25741868 NCBI chr 7:16,815,889...16,840,931
Ensembl chr 7:16,815,889...16,840,931
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttn titin ISO
IEA
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
OMIM:608807
OMIM
ClinVar
MouseDO
PMID:1745277 PMID:9804419 PMID:10053013 PMID:10462489 PMID:11717165 PMID:11846417 PMID:12145747 PMID:12669942 PMID:15802564 PMID:17344846 PMID:17444505 PMID:18414213 PMID:18948003 PMID:19608031 PMID:20890277 PMID:21520333 PMID:21617319 PMID:21810661 PMID:22335739 PMID:22526018 PMID:22820391 PMID:23299917 PMID:23396983 PMID:23418287 PMID:23478172 PMID:23486992 PMID:23518707 PMID:23675308 PMID:23757202 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24105469 PMID:24119082 PMID:24231549 PMID:24271327 PMID:24315344 PMID:24395473 PMID:24440382 PMID:24459294 PMID:24503780 PMID:24558114 PMID:24569025 PMID:24578547 PMID:24667040 PMID:24892279 PMID:24980681 PMID:25016126 PMID:25145518 PMID:25163546 PMID:25214167 PMID:25363768 PMID:25447171 PMID:25498755 PMID:25556389 PMID:25589632 PMID:25626705 PMID:25741868 PMID:25772186 PMID:25783436 PMID:25889363 PMID:25979592 PMID:26076356 PMID:26084686 PMID:26272908 PMID:26383259 PMID:26392295 PMID:26467025 PMID:26498160 PMID:26516846 PMID:26559152 PMID:26627873 PMID:26701604 PMID:26718681 PMID:26777568 PMID:27040692 PMID:27066507 PMID:27194543 PMID:27273923 PMID:27321809 PMID:27400856 PMID:27532257 PMID:27585509 PMID:27588451 PMID:27650965 PMID:27788187 PMID:27813223 PMID:27854218 PMID:27854229 PMID:27868399 PMID:27886618 PMID:27930701 PMID:28045975 PMID:28138913 PMID:28166282 PMID:28256728 PMID:28492532 PMID:28578331 PMID:28600387 PMID:28704380 PMID:28750076 PMID:28771489 PMID:28822653 PMID:28831623 PMID:28857138 PMID:29099038 PMID:29179779 PMID:29221435 PMID:29263846 PMID:29361395 PMID:29386531 PMID:29447731 PMID:29540445 PMID:29590070 PMID:29691892 PMID:29892087 PMID:29961767 PMID:29970176 PMID:30086531 PMID:30371277 PMID:30429050 PMID:30535219 PMID:30615648 PMID:30847666 PMID:30924900 PMID:30985088 PMID:30993396 PMID:31127727 PMID:31215789 PMID:31317183 PMID:31795264 PMID:31983221 NCBI chr 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
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 c-abl oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 2:31,688,244...31,807,093
Ensembl chr 2:31,688,376...31,804,227
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 2:31,950,303...31,973,442
Ensembl chr 2:31,950,139...31,973,442
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 2:31,670,715...31,681,352
Ensembl chr 2:31,670,715...31,681,349
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 2:32,045,969...32,087,472
Ensembl chr 2:32,050,055...32,084,857
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 2:31,813,290...31,846,964
Ensembl chr 2:31,813,290...31,846,005
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 NCBI chr 7:16,809,267...16,816,732
Ensembl chr 7:16,809,246...16,816,732
JBrowse link
G Lamc3 laminin gamma 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 2:31,887,281...31,949,083
Ensembl chr 2:31,887,291...31,946,539
JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 2:31,974,408...32,053,975
Ensembl chr 2:31,974,436...32,053,975
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 2:32,095,528...32,110,815
Ensembl chr 2:32,095,528...32,110,820
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 11
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
ClinVar Annotator: match by OMIM:609308
OMIM
ClinVar
PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16575835 PMID:16717220 PMID:17559086 PMID:17869517 PMID:17878207 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19222032 PMID:19299310 PMID:20816175 PMID:21102627 PMID:22323514 PMID:22522420 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25326635 PMID:25741868 PMID:26467025 PMID:28116189 PMID:28182637 PMID:28492532 PMID:28556411 PMID:30060766 PMID:32860008 NCBI chr 2:32,236,590...32,255,005
Ensembl chr 2:32,236,590...32,255,005
JBrowse link
G Prdm12 PR domain containing 12 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 2:31,635,026...31,655,795
Ensembl chr 2:31,640,037...31,655,795
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 2:32,151,031...32,234,537
Ensembl chr 2:32,151,082...32,234,537
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 2:31,806,168...31,810,580
Ensembl chr 2:31,806,166...31,810,580
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
IEA
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L
OMIM:611307
ClinVar Annotator: match by OMIM:611307
DNA:duplications, nonsense mutation, missense mutation:exon:multiple
DNA:duplication, missense mutation, splice-site mutation:exon:c.191dupA, c.1295C>G, p.G231V (c.692G>T) (human)
DNA:mutations:exon, intron:multiple
OMIM
ClinVar
MouseDO
PMID:9673985 PMID:17008331 PMID:17132147 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 PMID:22194990 PMID:22336395 PMID:22402862 PMID:22499103 PMID:22742934 PMID:22980763 PMID:23041008 PMID:23530687 PMID:23606453 PMID:23607914 PMID:23663589 PMID:23670307 PMID:23757202 PMID:24022920 PMID:24033266 PMID:24232312 PMID:24803842 PMID:24843231 PMID:25135358 PMID:25326637 PMID:25741868 PMID:25864073 PMID:25891276 PMID:26467025 PMID:26810512 PMID:26911675 PMID:27708273 PMID:27854218 PMID:27862037 PMID:27884173 PMID:27911336 PMID:28492532 PMID:31395899, PMID:22742934, PMID:20096397, PMID:23606453 RGD:11570561, RGD:11570558, RGD:11066746 NCBI chr 7:51,510,007...51,598,707
Ensembl chr 7:51,511,029...51,598,709
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 4:53,714,107...53,765,785
Ensembl chr 4:53,713,998...53,777,890
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:19889647 PMID:21285398 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25326637 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31188717 NCBI chr 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
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 ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 13
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
ClinVar Annotator: match by OMIM:611588
OMIM
ClinVar
PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:20961758 PMID:22275357 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26467025 PMID:26923585 PMID:27065010 PMID:28492532 PMID:30060766 NCBI chr 4:53,714,107...53,765,785
Ensembl chr 4:53,713,998...53,777,890
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 Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
ClinVar Annotator: match by OMIM:613158
OMIM
ClinVar
PMID:17878207 PMID:17923109 PMID:18414213 PMID:18513969 PMID:19299310 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 PMID:30060766 NCBI chr12:87,106,861...87,147,968
Ensembl chr12:87,106,861...87,147,968
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 beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15
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 Annotator: match by OMIM:613157
OMIM
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:22419172 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:30937090 PMID:30961548 PMID:33175337 NCBI chr 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
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:30937090 PMID:30961548 PMID:33175337 NCBI chr 4:116,161,881...116,167,621
Ensembl chr 4:116,161,869...116,167,601
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 1700102P08Rik RIKEN cDNA 1700102P08 gene ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 9:108,392,824...108,411,440
Ensembl chr 9:108,392,805...108,410,934
JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 9:108,296,905...108,302,302
Ensembl chr 9:108,296,853...108,302,302
JBrowse link
G BC048562 cDNA sequence BC048562 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 9:108,436,482...108,446,083
Ensembl chr 9:108,436,482...108,446,086
JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 9:108,452,502...108,465,946
Ensembl chr 9:108,460,527...108,465,938
JBrowse link
G Dag1 dystroglycan 1 ISO
IEA
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9
OMIM:613818
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P
ClinVar Annotator: match by OMIM:613818
OMIM
ClinVar
MouseDO
PMID:14678799 PMID:20234391 PMID:21388311 PMID:24033266 PMID:24052401 PMID:25503980 PMID:25671699 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29036200 PMID:29134705 PMID:29337005 PMID:31097590 NCBI chr 9:108,204,861...108,263,977
Ensembl chr 9:108,204,634...108,263,958
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 9:108,339,080...108,340,342
Ensembl chr 9:108,338,903...108,340,343
JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 9:108,403,492...108,431,841
Ensembl chr 9:108,403,611...108,428,484
JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 9:108,447,635...108,461,581
Ensembl chr 9:108,447,636...108,461,581
JBrowse link
G Lamb2 laminin, beta 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 9:108,479,847...108,490,530
Ensembl chr 9:108,479,736...108,490,530
JBrowse link
G Nicn1 nicolin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 9:108,290,443...108,296,498
Ensembl chr 9:108,290,429...108,296,498
JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 9:108,306,160...108,337,943
Ensembl chr 9:108,306,129...108,337,934
JBrowse link
G Tcta T cell leukemia translocation altered gene ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 9:108,302,955...108,306,159
Ensembl chr 9:108,302,958...108,306,160
JBrowse link
G Usp4 ubiquitin specific peptidase 4 (proto-oncogene) ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 9:108,346,564...108,392,545
Ensembl chr 9:108,347,853...108,392,545
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 ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2Q
ClinVar Annotator: match by OMIM:613723
OMIM
ClinVar
PMID:15810881 PMID:21109228 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31319225 NCBI chr15:76,170,974...76,231,378
Ensembl chr15:76,170,974...76,232,574
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 ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2S
ClinVar Annotator: match by OMIM:615356
OMIM
ClinVar
PMID:23830518 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26322222 PMID:26467025 PMID:26912795 PMID:27707803 PMID:27862579 PMID:28482373 PMID:28492532 PMID:29158550 PMID:29855340 PMID:31575891 NCBI chr 8:47,490,128...47,533,470
Ensembl chr 8:47,490,115...47,533,470
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 ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C14
ClinVar Annotator: match by OMIM:615352
OMIM
ClinVar
PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 PMID:25326637 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30257713 PMID:30684953 NCBI chr 9:108,049,239...108,051,923
Ensembl chr 9:108,049,242...108,052,801
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 ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C7
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7
ClinVar
OMIM
PMID:22522421 PMID:23288328 PMID:23390185 PMID:25741868 NCBI chr12:36,380,575...36,689,503
Ensembl chr12:36,381,450...36,689,503
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 chr18:31,942,999...31,949,890
Ensembl chr18:31,942,997...31,949,636
JBrowse link
G Lims2 LIM and senescent cell antigen like domains 2 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2w
ClinVar
OMIM
PMID:25589244 PMID:25741868 PMID:28492532 NCBI chr18:31,922,293...31,958,620
Ensembl chr18:31,922,290...31,958,619
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 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2X
ClinVar
OMIM
PMID:25741868 PMID:26642364 PMID:31119192 NCBI chr10:45,335,735...45,372,484
Ensembl chr10:45,335,772...45,372,479
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 A interacting protein 1 ISO ClinVar Annotator: match by OMIM:617072
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y
ClinVar
OMIM
PMID:4856141 PMID:24856141 PMID:25193337 PMID:25741868 PMID:27342937 PMID:28492532 NCBI chr 1:156,004,599...156,036,480
Ensembl chr 1:156,004,599...156,036,480
JBrowse link
G Tor1aip2 torsin A interacting protein 2 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y ClinVar PMID:24856141 PMID:25193337 NCBI chr 1:156,035,664...156,068,861
Ensembl chr 1:156,035,403...156,068,861
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 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Z ClinVar
OMIM
PMID:27807076 NCBI chr16:38,525,058...38,550,257
Ensembl chr16:38,525,137...38,550,258
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 Fanconi anemia, 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 7:79,392,312...79,450,266
Ensembl chr 7:79,391,929...79,450,264
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
OMIM
ClinVar
PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 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:16639411 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195149 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:20601675 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20883824 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:22000311 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:24288107 PMID:24331360 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25914719 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:30373890 PMID:30843307 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:22689196 PMID:22851605 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:114,622,152...114,658,435
Ensembl chr 5:114,622,152...114,658,421
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 ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 ClinVar
OMIM
PMID:26094573 NCBI chr12:28,649,601...28,659,592
Ensembl chr12:28,649,602...28,659,589
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, mitochondrial ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 ClinVar
OMIM
PMID:15907288 PMID:21937588 PMID:25326635 PMID:25741868 NCBI chr 8:104,226,691...104,248,592
Ensembl chr 8:104,226,685...104,248,558
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 ClinVar Annotator: match by OMIM:617070
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
ClinVar
OMIM
PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 PMID:18205204 PMID:23043144 PMID:25741868 PMID:26874653 NCBI chr 6:83,480,214...83,506,969
Ensembl chr 6:83,480,217...83,506,969
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 topoisomerase (DNA) III alpha ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 ClinVar
OMIM
PMID:25741868 PMID:29290614 NCBI chr11:60,738,209...60,777,365
Ensembl chr11:60,740,058...60,777,365
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 chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 IEA OMIM:180500 MouseDO NCBI chr 4:133,964,739...133,967,991
Ensembl chr 4:133,964,738...133,968,650
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO
IEA
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
MouseDO
CTD
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15728254 PMID:15895993 PMID:16498627 PMID:18045789 PMID:18723525 PMID:19052653 PMID:20881294 PMID:22569110 PMID:25741868 PMID:26220699 PMID:28492532 PMID:29100920 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
JBrowse link
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 6:65,777,656...65,937,622
Ensembl chr 6:65,778,988...65,937,010
JBrowse link
Becker muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin, muscular dystrophy ISO
IEA
ClinVar Annotator: match by term: Becker muscular dystrophy
ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type
ClinVar Annotator: match by term: Becker muscular dystrophy, atypical
OMIM:300376
ClinVar Annotator: match by term: Muscular dystrophy, Becker
ClinVar
MouseDO
OMIM
PMID:1047858 PMID:1549596 PMID:1577476 PMID:1632439 PMID:1757094 PMID:1996328 PMID:2677830 PMID:7611292 PMID:7881286 PMID:7951253 PMID:8279470 PMID:8281150 PMID:8301652 PMID:8322822 PMID:8401537 PMID:8504498 PMID:8840119 PMID:9410897 PMID:9544849 PMID:10832829 PMID:11039581 PMID:11053684 PMID:11710958 PMID:12522557 PMID:12632325 PMID:12754707 PMID:15351422 PMID:15643612 PMID:16770791 PMID:17041906 PMID:17259292 PMID:17854090 PMID:18583217 PMID:18652600 PMID:19074751 PMID:19206170 PMID:19367636 PMID:19409785 PMID:19530190 PMID:19602481 PMID:19793655 PMID:19937601 PMID:19959795 PMID:20485447 PMID:21104870 PMID:21396098 PMID:21399986 PMID:21515508 PMID:21525508 PMID:21681106 PMID:22223181 PMID:22910583 PMID:23453023 PMID:23536893 PMID:23756440 PMID:23757202 PMID:24033266 PMID:24292997 PMID:24349052 PMID:25007885 PMID:25447171 PMID:25525159 PMID:25612904 PMID:25637381 PMID:25741868 PMID:25972034 PMID:26467025 PMID:26743743 PMID:26911353 PMID:27593222 PMID:27708273 PMID:27930565 PMID:28116794 PMID:28492532 PMID:28859693 PMID:28878402 PMID:29581631 PMID:29641567 PMID:29973226 PMID:30833962 NCBI chr  X:82,814,664...85,205,050
Ensembl chr  X:82,948,870...85,206,141
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 chr16:16,213,345...16,272,712
Ensembl chr16:16,213,318...16,272,712
JBrowse link
G Snta1 syntrophin, acidic 1 ISO ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:25741868 NCBI chr 2:154,376,313...154,408,107
Ensembl chr 2:154,376,313...154,408,099
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, muscular dystrophy ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:7881286 PMID:12632325 PMID:17259292 PMID:19206170 PMID:19793655 PMID:19937601 PMID:21396098 PMID:21399986 PMID:22910583 PMID:23757202 PMID:24033266 PMID:25447171 PMID:25637381 PMID:25741868 PMID:26467025 PMID:27708273 PMID:28492532 PMID:28878402 NCBI chr  X:82,814,664...85,205,050
Ensembl chr  X:82,948,870...85,206,141
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 chr16:16,213,345...16,272,712
Ensembl chr16:16,213,318...16,272,712
JBrowse link
G Snta1 syntrophin, acidic 1 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:25741868 NCBI chr 2:154,376,313...154,408,107
Ensembl chr 2:154,376,313...154,408,099
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 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:79,598,987...79,721,141
Ensembl chr 9:79,598,991...79,718,831
JBrowse link
G Col6a1 collagen, type VI, alpha 1 ISO
IEA
ClinVar Annotator: match by OMIM:158810
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
CTD
MouseDO
PMID:7695699 PMID:8218237 PMID:11707460 PMID:15689448 PMID:16130093 PMID:18414213 PMID:19344236 PMID:20302629 PMID:20981092 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:30564623 NCBI chr10:76,708,792...76,726,044
Ensembl chr10:76,708,792...76,726,168
JBrowse link
G Col6a2 collagen, type VI, alpha 2 ISO ClinVar Annotator: match by OMIM:158810
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12840783 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19309692 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:22992134 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24314752 PMID:24801232 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:29419890 PMID:30564623 NCBI chr10:76,595,756...76,623,630
Ensembl chr10:76,595,762...76,623,630
JBrowse link
G Col6a3 collagen, type VI, alpha 3 ISO ClinVar Annotator: match by OMIM:158810
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
CTD
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 chr 1:90,766,860...90,844,001
Ensembl chr 1:90,765,923...90,843,971
JBrowse link
G Ftcd formiminotransferase cyclodeaminase ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:76,575,648...76,590,338
Ensembl chr10:76,575,648...76,590,338
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 chr 1:90,203,980...90,215,724
Ensembl chr 1:90,203,980...90,216,751
JBrowse link
G Clcn5 chloride channel, voltage-sensitive 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 NCBI chr  X:7,153,810...7,319,358
Ensembl chr  X:7,153,810...7,319,358
JBrowse link
G Col6a1 collagen, type VI, alpha 1 susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
OMIM
PMID:7695699 PMID:7881296 PMID:8218237 PMID:8268929 PMID:8782832 PMID:9580662 PMID:9724608 PMID:10329467 PMID:10419498 PMID:11707460 PMID:11865138 PMID:11932968 PMID:12840783 PMID:15689448 PMID:15955946 PMID:16130093 PMID:16141002 PMID:16935502 PMID:17785673 PMID:17785674 PMID:17886299 PMID:18160674 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18642359 PMID:18825676 PMID:19204719 PMID:19344236 PMID:19564581 PMID:19884007 PMID:20301468 PMID:20302629 PMID:20576434 PMID:20882040 PMID:20976770 PMID:20981092 PMID:21280092 PMID:21520333 PMID:22075033 PMID:22975586 PMID:23040494 PMID:23326386 PMID:23572247 PMID:23661642 PMID:24033266 PMID:24038877 PMID:24223098 PMID:24271325 PMID:24801232 PMID:24959844 PMID:25535305 PMID:25635128 PMID:25741868 PMID:25749816 PMID:25978941 PMID:26436962 PMID:26467025 PMID:26867126 PMID:27246988 PMID:27363342 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27884173 PMID:28182637 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28771251 PMID:28877744 PMID:28984114 PMID:29406609 PMID:29417091 PMID:29419890 PMID:30564623 PMID:30706156, PMID:8782832 RGD:1600934 NCBI chr10:76,708,792...76,726,044
Ensembl chr10:76,708,792...76,726,168
JBrowse link
G Col6a2 collagen, type VI, alpha 2 susceptibility ISO Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE
ClinVar
OMIM
PMID:1788629 PMID:4271325 PMID:7695699 PMID:7785673 PMID:8218237 PMID:8782832 PMID:9334230 PMID:11865138 PMID:12840783 PMID:15563506 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17785673 PMID:17886299 PMID:18160674 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:18852439 PMID:19309692 PMID:19344236 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20106987 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:21520333 PMID:22075033 PMID:23040494 PMID:23138527 PMID:23170014 PMID:23326386 PMID:23757202 PMID:23940025 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24314752 PMID:24801232 PMID:25204870 PMID:25326637 PMID:25380242 PMID:25533456 PMID:25535305 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27159402 PMID:27363342 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:28688748 PMID:28831785 PMID:29172004 PMID:29419890 PMID:30564623 PMID:32860008, PMID:8782832 RGD:1600934 NCBI chr10:76,595,756...76,623,630
Ensembl chr10:76,595,762...76,623,630
JBrowse link
G Col6a3 collagen, type VI, alpha 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:9536084 PMID:15563506 PMID:15689448 PMID:16935502 PMID:17785673 PMID:17886299 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19344236 PMID:19564581 PMID:20976770 PMID:20981092 PMID:21280092 PMID:22995991 PMID:23040494 PMID:23175733 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24907562 PMID:25214167 PMID:25224718 PMID:25326635 PMID:25380242 PMID:25535305 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26436962 PMID:26467025 PMID:26752647 PMID:26872670 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27854218 PMID:28097933 PMID:28492532 PMID:28688748 PMID:29970176 PMID:30467950 PMID:30487145 PMID:30564623 PMID:31044083 NCBI chr 1:90,766,860...90,844,001
Ensembl chr 1:90,765,923...90,843,971
JBrowse link
G Cops8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 1:90,602,960...90,613,341
Ensembl chr 1:90,602,981...90,613,341
JBrowse link
G Ftcd formiminotransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:76,575,648...76,590,338
Ensembl chr10:76,575,648...76,590,338
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 ISO ClinVar Annotator: match by term: Bethlem myopathy 2 ClinVar
OMIM
PMID:24334604 PMID:24334769 PMID:25741868 PMID:28492532 NCBI chr 9:79,598,987...79,721,141
Ensembl chr 9:79,598,991...79,718,831
JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3a H3.3 histone A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 1:180,802,560...180,813,605
Ensembl chr 1:180,800,832...180,813,943
JBrowse link
Brody myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 ISO ClinVar Annotator: match by term: Brody myopathy
ClinVar Annotator: match by OMIM:601003
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:8841193 PMID:9367679 PMID:10914677 PMID:17882224 PMID:19763152 PMID:20307669 PMID:22406018 PMID:23757202 PMID:23911890 PMID:24033266 PMID:24707176 PMID:25614869 PMID:26248958 PMID:26467025 PMID:28492532, PMID:8841193 RGD:734618 NCBI chr 7:126,445,858...126,463,103
Ensembl chr 7:126,445,858...126,463,108
JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 7:126,491,708...126,507,819
Ensembl chr 7:126,491,708...126,503,437
JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar NCBI chr 7:126,428,423...126,445,907
Ensembl chr 7:126,428,759...126,449,245
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 7:126,466,993...126,476,650
Ensembl chr 7:126,466,994...126,475,424
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 7:126,487,271...126,490,731
Ensembl chr 7:126,487,361...126,490,731
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, subunit A, flavoprotein (Fp) ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA 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 NCBI chr13:74,322,255...74,350,240
Ensembl chr13:74,322,254...74,350,280
JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 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 4:140,961,271...140,979,198
Ensembl chr 4:140,961,203...140,979,193
JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:12658451 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:21822798 PMID:24402737 PMID:26173966 PMID:28492532 NCBI chr 1:171,129,157...171,150,640
Ensembl chr 1:171,127,165...171,150,603
JBrowse link
central core myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 anthrax toxin receptor 2 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr 5:97,884,688...98,031,017
Ensembl chr 5:97,882,783...98,031,043
JBrowse link
G Atp13a4 ATPase type 13A4 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr16:29,389,103...29,544,864
Ensembl chr16:29,395,853...29,544,864
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 chr 8:14,881,335...14,901,720
Ensembl chr 8:14,881,335...14,901,720
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 7:15,865,947...15,879,955
Ensembl chr 7:15,865,947...15,879,968
JBrowse link
G Mefv Mediterranean fever ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr16:3,706,974...3,718,211
Ensembl chr16:3,707,218...3,718,097
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 4:122,836,077...122,859,175
Ensembl chr 4:122,836,242...122,859,175
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO
IEA
ClinVar Annotator: match by term: Shy-Magee syndrome
ClinVar Annotator: match by term: Central core myopathy
ClinVar Annotator: match by term: Central core disease
ClinVar Annotator: match by term: Congenital myopathy with cores
ClinVar Annotator: match by term: Central core disease, autosomal recessive
ClinVar Annotator: match by term: Myopathy, Central Core
CTD Direct Evidence: marker/mechanism
OMIM:117000
ClinVar Annotator: match by OMIM:117000
OMIM
ClinVar
CTD
MouseDO
PMID:12434 PMID:1256913 PMID:1743490 PMID:4149045 PMID:7547049 PMID:7586638 PMID:7829078 PMID:7889656 PMID:8220422 PMID:8220423 PMID:8592342 PMID:8661021 PMID:9030597 PMID:9199552 PMID:9334205 PMID:9497245 PMID:9873004 PMID:10051009 PMID:10097181 PMID:10484775 PMID:10612851 PMID:10823104 PMID:11063719 PMID:11113224 PMID:11274444 PMID:11448278 PMID:11524458 PMID:11575529 PMID:11709545 PMID:11741831 PMID:12059893 PMID:12112081 PMID:12123492 PMID:12124989 PMID:12136074 PMID:12151923 PMID:12208234 PMID:12411786 PMID:12411788 PMID:12434264 PMID:12467748 PMID:12565913 PMID:12566385 PMID:12642598 PMID:12709367 PMID:12937085 PMID:14570802 PMID:14670767 PMID:14708096 PMID:14732627 PMID:14985404 PMID:15108991 PMID:15175001 PMID:15210166 PMID:15221887 PMID:15299003 PMID:15448513 PMID:15731587 PMID:16084090 PMID:16163667 PMID:16272262 PMID:16284304 PMID:16372898 PMID:16380615 PMID:16621918 PMID:16732084 PMID:16835904 PMID:16917943 PMID:16940308 PMID:16958053 PMID:16958617 PMID:17033962 PMID:17081152 PMID:17122579 PMID:17204054 PMID:17204937 PMID:17226826 PMID:17365175 PMID:17483490 PMID:17538032 PMID:17710899 PMID:18171678 PMID:18253926 PMID:18414213 PMID:18564801 PMID:18719443 PMID:18765655 PMID:19015156 PMID:19020143 PMID:19191329 PMID:19191333 PMID:19223216 PMID:19346234 PMID:19513315 PMID:19648156 PMID:19658156 PMID:19685112 PMID:19807743 PMID:19825159 PMID:19931341 PMID:20080402 PMID:20142353 PMID:20583297 PMID:20681998 PMID:20839240 PMID:20888934 PMID:20981092 PMID:21062345 PMID:21156754 PMID:21157159 PMID:21455645 PMID:21514828 PMID:21674524 PMID:21795085 PMID:21825032 PMID:21911697 PMID:21965348 PMID:21989361 PMID:22030266 PMID:22203976 PMID:22415532 PMID:22473935 PMID:22550088 PMID:22705209 PMID:22734812 PMID:22913516 PMID:22992668 PMID:22995991 PMID:23035052 PMID:23069638 PMID:23127960 PMID:23159934 PMID:23183335 PMID:23204524 PMID:23308296 PMID:23329375 PMID:23394784 PMID:23459219 PMID:23460944 PMID:23476141 PMID:23553484 PMID:23553787 PMID:23558838 PMID:23628358 PMID:23826317 PMID:23842196 PMID:23919265 PMID:24013571 PMID:24033266 PMID:24055113 PMID:24088041 PMID:24195946 PMID:24361844 PMID:24433488 PMID:24561095 PMID:24627108 PMID:24950660 PMID:24951453 PMID:25084811 PMID:25086907 PMID:25214167 PMID:25256590 PMID:25326635 PMID:25461839 PMID:25476234 PMID:25521991 PMID:25628744 PMID:25637381 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:25747005 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25985138 PMID:25989378 PMID:26332594 PMID:26381711 PMID:26467025 PMID:26633545 PMID:26684984 PMID:26951757 PMID:27147545 PMID:27153395 PMID:27382027 PMID:27447704 PMID:27555149 PMID:27586648 PMID:27663056 PMID:27854218 PMID:27857962 PMID:28224104 PMID:28259615 PMID:28326467 PMID:28403410 PMID:28492532 PMID:28527222 PMID:28687594 PMID:28818389 PMID:29169929 PMID:29172004 PMID:29178655 PMID:29382405 PMID:29635721 PMID:30122538 PMID:30155738 PMID:30236257 PMID:30325262 PMID:30499100 PMID:30611313 PMID:30724636 PMID:30788618 PMID:31055738 PMID:31135626 PMID:31680123 PMID:31680349 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
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
IEA
ClinVar Annotator: match by term: Myopathy, centronuclear
OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959
ClinVar
MouseDO
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 9:21,424,908...21,507,759
Ensembl chr 9:21,424,908...21,507,759
JBrowse link
G Klhl31 kelch-like 31 IEA OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 MouseDO NCBI chr 9:77,636,732...77,660,125
Ensembl chr 9:77,636,500...77,660,127
JBrowse link
G Mtm1 X-linked myotubular myopathy gene 1 ISO
IEA
ClinVar Annotator: match by term: Myotubular myopathy
OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959
ClinVar
MouseDO
PMID:18414213 NCBI chr  X:71,210,767...71,315,413
Ensembl chr  X:71,210,767...71,315,691
JBrowse link
G Pln phospholamban IEA OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 MouseDO NCBI chr10:53,337,686...53,345,999
Ensembl chr10:53,337,667...53,345,987
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Myotubular myopathy
ClinVar Annotator: match by term: Centronuclear myopathy
ClinVar PMID:22473935 PMID:25741868 PMID:28492532 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
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 chr 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
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 ClinVar Annotator: match by term: Myopathy, centronuclear, 1
ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant
OMIM
ClinVar
PMID:16227997 PMID:17008356 PMID:17932957 PMID:18414213 PMID:19130742 PMID:19623537 PMID:19932619 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:24033266 PMID:24088041 PMID:24135484 PMID:24366529 PMID:24465259 PMID:24728327 PMID:25214167 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:27854218 PMID:28492532 PMID:28676641 PMID:32860008 NCBI chr 9:21,424,908...21,507,759
Ensembl chr 9:21,424,908...21,507,759
JBrowse link
G Mtm1 X-linked myotubular myopathy gene 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:25741868 NCBI chr  X:71,210,767...71,315,413
Ensembl chr  X:71,210,767...71,315,691
JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 OMIM
ClinVar
PMID:17008356 PMID:25741868 NCBI chr 6:113,237,635...113,281,392
Ensembl chr 6:113,237,843...113,281,392
JBrowse link
G Myf6 myogenic factor 6 ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant
ClinVar Annotator: match by term: Myopathy, centronuclear, 3
ClinVar PMID:11053684 PMID:25741868 PMID:28492532 NCBI chr10:107,492,848...107,494,723
Ensembl chr10:107,492,853...107,494,737
JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:31260566 NCBI chr 7:46,376,474...46,379,092
Ensembl chr 7:46,376,474...46,379,099
JBrowse link
G Otogl otogelin-like ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr10:107,760,530...107,912,379
Ensembl chr10:107,760,531...107,912,134
JBrowse link
G Ppp1r12a protein phosphatase 1, regulatory subunit 12A ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr10:108,162,092...108,279,985
Ensembl chr10:108,162,193...108,284,475
JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr10:107,514,363...107,720,098
Ensembl chr10:107,517,049...107,720,051
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 chr18:32,376,618...32,435,740
Ensembl chr18:32,377,230...32,435,737
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 ClinVar Annotator: match by term: Myopathy, centronuclear, 4
ClinVar Annotator: match by OMIM:614807
OMIM
ClinVar
PMID:18414213 PMID:22818856 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:25,786,580...25,790,513
Ensembl chr17:25,786,580...25,790,513
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, polypeptide 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 NCBI chr17:79,706,940...79,715,061
Ensembl chr17:79,701,537...79,715,061
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 chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link
G Speg SPEG complex locus ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 OMIM
ClinVar
PMID:25087613 PMID:25741868 PMID:28492532 NCBI chr 1:75,375,297...75,432,320
Ensembl chr 1:75,375,297...75,432,320
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 ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION ClinVar
OMIM
PMID:16760198 PMID:27816943 NCBI chr 2:72,285,637...72,442,610
Ensembl chr 2:72,285,637...72,442,610
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 antigen-like 2 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr  X:71,420,060...71,492,866
Ensembl chr  X:71,420,060...71,492,849
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Myotubular myopathy, X-linked
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 9:21,424,908...21,507,759
Ensembl chr 9:21,424,908...21,507,759
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:71,663,667...71,669,257
Ensembl chr  X:71,663,667...71,669,257
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:71,555,917...71,560,673
Ensembl chr  X:71,555,918...71,560,676
JBrowse link
G Mtm1 X-linked myotubular myopathy gene 1 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy
ClinVar Annotator: match by term: Myotubular myopathy, X-linked
ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY 1
ClinVar Annotator: match by OMIM:310400
OMIM
ClinVar
PMID:2352255 PMID:7611280 PMID:8640223 PMID:9199578 PMID:9285787 PMID:9305655 PMID:9450905 PMID:9829274 PMID:9858861 PMID:10063835 PMID:10215413 PMID:10449925 PMID:10502779 PMID:10714588 PMID:10726846 PMID:10790201 PMID:10900271 PMID:11552027 PMID:11793470 PMID:12031625 PMID:12118066 PMID:12467733 PMID:12522554 PMID:12646134 PMID:12707446 PMID:12859411 PMID:15725586 PMID:15883335 PMID:17005396 PMID:17537630 PMID:17973976 PMID:18414213 PMID:18817572 PMID:19084976 PMID:20358311 PMID:20434914 PMID:20500434 PMID:21135508 PMID:22520358 PMID:23071445 PMID:23917616 PMID:24033266 PMID:24381816 PMID:25741868 PMID:25957634 PMID:26338224 PMID:26467025 PMID:26938784 PMID:27017278 PMID:28492532 PMID:28685322 PMID:29567349 PMID:30047259 PMID:30884204 PMID:32805447 NCBI chr  X:71,210,767...71,315,413
Ensembl chr  X:71,210,767...71,315,691
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:71,364,760...71,419,196
Ensembl chr  X:71,364,760...71,419,196
JBrowse link
G Vma21 VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr  X:71,812,752...71,824,706
Ensembl chr  X:71,815,924...71,839,757
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 Fanconi anemia, 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 7:79,392,312...79,450,266
Ensembl chr 7:79,391,929...79,450,264
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28284481 PMID:28337550 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29474836 PMID:29482223 PMID:29588995 PMID:30255931 PMID:30290626 PMID:30373890 PMID:30843307 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:22689196 PMID:22851605 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:114,622,152...114,658,435
Ensembl chr 5:114,622,152...114,658,421
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 ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 5
ClinVar Annotator: match by OMIM:311070
OMIM
ClinVar
PMID:17701900 PMID:24285972 PMID:25182139 PMID:25491489 PMID:28492532 NCBI chr  X:140,456,603...140,476,140
Ensembl chr  X:140,456,613...140,476,140
JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3b H3.3 histone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr11:116,021,961...116,026,039
Ensembl chr11:116,021,912...116,027,962
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 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Milr1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr11:106,750,646...106,768,794
Ensembl chr11:106,751,226...106,768,794
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia, proximal myopathy, and sudden death ClinVar PMID:8265770 PMID:8786060 PMID:31965079 NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia ClinVar PMID:29398297 NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938
JBrowse link
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: Chronic progressive external ophthalmoplegia ClinVar PMID:10844060 PMID:29887215 NCBI chr10:107,482,908...107,486,927
Ensembl chr10:107,482,908...107,486,134
JBrowse link
G Polg polymerase (DNA directed), gamma ISO DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
DNA:mutations:cds:
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
CTD PMID:17923349, PMID:11431686, PMID:17420318, PMID:16401742, PMID:12565911, PMID:12975295 RGD:737726, RGD:8694204, RGD:8694183, RGD:8694170, RGD:8694163 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Polg2 polymerase (DNA directed), 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 chr11:106,768,204...106,779,537
Ensembl chr11:106,768,253...106,779,537
JBrowse link
G Rrm2b ribonucleotide reductase M2 B (TP53 inducible) ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar PMID:21646632 PMID:21951382 NCBI chr15:37,923,952...37,961,119
Ensembl chr15:37,923,952...37,961,318
JBrowse link
G Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar PMID:12565915, PMID:15792871 RGD:1580622, RGD:1580620 NCBI chr 8:46,207,168...46,211,062
Ensembl chr 8:46,206,797...46,211,284
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Twnk twinkle mtDNA helicase susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Progressive external ophthalmoplegia
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 PMID:19513767 PMID:20479361 PMID:20659899 PMID:20880070 PMID:25741868 PMID:26467025 PMID:28812649, PMID:11431692 RGD:1600544 NCBI chr19:45,005,663...45,012,764
Ensembl chr19:45,005,663...45,012,762
JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 ClinVar NCBI chr10:127,000,065...127,020,994
Ensembl chr10:127,000,709...127,020,994
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 PMID:22277967 PMID:22499341 PMID:25037205 PMID:25741868 PMID:28492532 NCBI chr10:127,022,332...127,030,814
Ensembl chr10:127,011,572...127,030,840
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, mitochondrion-associated 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:20362274 PMID:22019070 PMID:25583628 PMID:25741868 PMID:26173962 PMID:26467025 PMID:28492532 NCBI chr  X:48,474,944...48,513,563
Ensembl chr  X:48,474,944...48,513,563
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:48,513,663...48,530,240
Ensembl chr  X:48,519,285...48,530,232
JBrowse link
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2810006K23Rik RIKEN cDNA 2810006K23 gene ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 OMIM
ClinVar
PMID:20598281 PMID:24033266 PMID:24284555 PMID:24424123 PMID:25326635 PMID:25741868 PMID:26539891 PMID:27858754 PMID:28492532 PMID:32581362 NCBI chr 5:124,328,089...124,341,852
Ensembl chr 5:124,328,089...124,341,844
JBrowse link
G Mphosph9 M-phase phosphoprotein 9 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar NCBI chr 5:124,250,959...124,329,397
Ensembl chr 5:124,250,959...124,327,972
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
IEA
ClinVar Annotator: match by term: Myopathy, congenital, compton-north
OMIM:612540
ClinVar Annotator: match by OMIM:612540
OMIM
ClinVar
MouseDO
PMID:18414213 PMID:19026398 PMID:22242131 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:92,051,152...92,341,967
Ensembl chr15:92,051,165...92,341,967
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 ClinVar Annotator: match by term: Congenital contractural arachnodactyly
ClinVar Annotator: match by OMIM:121050
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 PMID:8900230 PMID:9106527 PMID:9199560 PMID:9737771 PMID:10612827 PMID:10797416 PMID:11285249 PMID:11470817 PMID:11754102 PMID:15121784 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:20301560 PMID:20799338 PMID:22325249 PMID:22438950 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25326635 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:27196565 PMID:28492532 PMID:29907982 PMID:29926239 PMID:30675029 PMID:31316167, PMID:11754102 RGD:1300364 NCBI chr18:58,008,623...58,210,572
Ensembl chr18:58,008,623...58,210,487
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 polypeptide 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O
ClinVar Annotator: match by OMIM:612937
OMIM
ClinVar
PMID:19576565 PMID:28492532 PMID:28803818 PMID:29246662 PMID:31266720 PMID:31469168 NCBI chr 3:89,257,065...89,267,079
Ensembl chr 3:89,259,358...89,267,079
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 ClinVar Annotator: match by term: Congenital fiber-type disproportion
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar
OMIM
PMID:10528865 PMID:15468086 PMID:17387733 PMID:18414213 PMID:19562689 PMID:21520333 PMID:23757202 PMID:24033266 PMID:24642510 PMID:25741868 PMID:26172852 PMID:26467025 PMID:27447704 PMID:28492532 NCBI chr 8:123,891,758...123,894,775
Ensembl chr 8:123,891,769...123,894,751
JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISS
ISO
OMIM:255310 | OMIM:300580
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion
MouseDO
ClinVar
PMID:1430197 PMID:1472461 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 PMID:7581410 PMID:7662452 PMID:7731997 PMID:7848420 PMID:8186698 PMID:8254035 PMID:8268932 PMID:8490051 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:15757018 PMID:15856146 PMID:15858117 PMID:16199542 PMID:16267253 PMID:16630449 PMID:16858239 PMID:16918501 PMID:16938236 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:19149795 PMID:19150014 PMID:19880069 PMID:20031618 PMID:20350521 PMID:20359594 PMID:20800588 PMID:20975235 PMID:21127202 PMID:21239446 PMID:21310275 PMID:21750094 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22429680 PMID:22455086 PMID:22464770 PMID:22765922 PMID:22857948 PMID:22958901 PMID:23054336 PMID:23074333 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:23794396 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24691700 PMID:24704860 PMID:24749114 PMID:24793961 PMID:25031304 PMID:25086479 PMID:25132132 PMID:25342278 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25714468 PMID:25741868 PMID:25937619 PMID:26187847 PMID:26573135 PMID:26743238 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27532257 PMID:27600940 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27885498 PMID:27974200 PMID:28138913 PMID:28193612 PMID:28241245 PMID:28356264 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28498465 PMID:28518168 PMID:28606303 PMID:28615295 PMID:28790153 PMID:29121657 PMID:29212898 PMID:29300372 PMID:30297972 PMID:30511546 PMID:30871747 PMID:31006259 PMID:31333075 PMID:31493341 PMID:31568572 PMID:32381727 NCBI chr14:54,970,684...54,994,626
Ensembl chr14:54,970,684...54,994,626
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISS
ISO
OMIM:255310 | OMIM:300580
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion
ClinVar Annotator: match by term: Congenital fiber-type disproportion
MouseDO
ClinVar
PMID:16940 PMID:18253 PMID:1743490 PMID:4149045 PMID:7299413 PMID:8661021 PMID:9199552 PMID:10097181 PMID:11274444 PMID:11575529 PMID:11709545 PMID:11741831 PMID:12123492 PMID:12642598 PMID:15175001 PMID:15210166 PMID:15221887 PMID:15448513 PMID:16084090 PMID:16163667 PMID:16380615 PMID:16621918 PMID:16732084 PMID:16917943 PMID:16940308 PMID:17033962 PMID:17081152 PMID:17365175 PMID:17483490 PMID:18171678 PMID:18253926 PMID:18414213 PMID:18564801 PMID:18765655 PMID:19191333 PMID:19648156 PMID:19685112 PMID:19825159 PMID:20142353 PMID:20583297 PMID:20681998 PMID:20839240 PMID:20888934 PMID:21062345 PMID:21157159 PMID:21674524 PMID:21825032 PMID:21911697 PMID:22203976 PMID:22415532 PMID:22473935 PMID:22992668 PMID:23329375 PMID:23394784 PMID:23553484 PMID:23553787 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:25637381 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:25747005 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25989378 PMID:26381711 PMID:26633545 PMID:27854218 PMID:27857962 PMID:28224104 PMID:28259615 PMID:28357410 PMID:28403410 PMID:28492532 PMID:28818389 PMID:29172004 PMID:29293505 PMID:30155738 PMID:30236257 PMID:30611313 PMID:30788618 PMID:31055738 PMID:31680123 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
JBrowse link
G Scn4a sodium channel, voltage-gated, type IV, alpha ISO ClinVar Annotator: match by term: Severe neonatal hypotonia improving with age ClinVar PMID:25326635 PMID:25741868 NCBI chr11:106,317,545...106,365,559
Ensembl chr11:106,318,592...106,353,288
JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar Annotator: match by term: SEPN1-Related Disorders
ClinVar
OMIM
PMID:11079538 PMID:11528383 PMID:12192640 PMID:12207930 PMID:15668457 PMID:15792869 PMID:16365872 PMID:17365175 PMID:17951086 PMID:18313359 PMID:18414213 PMID:18713863 PMID:19067361 PMID:20623375 PMID:21670436 PMID:23394784 PMID:24033266 PMID:24988964 PMID:25182138 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28688748 PMID:30921636 NCBI chr 4:134,537,892...134,552,166
Ensembl chr 4:134,537,892...134,552,166
JBrowse link
G Tpm2 tropomyosin 2, beta ISS
ISO
OMIM:255310 | OMIM:300580
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
MouseDO
ClinVar
PMID:25741868 NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765
JBrowse link
G Tpm3 tropomyosin 3, gamma ISO ClinVar Annotator: match by term: Congenital fiber-type disproportion
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar
OMIM
PMID:1221488 PMID:12163190 PMID:12467750 PMID:17376686 PMID:18300303 PMID:19487656 PMID:19553118 PMID:19953533 PMID:20179953 PMID:20554445 PMID:20951040 PMID:21357678 PMID:22749829 PMID:22798622 PMID:23886664 PMID:24033266 PMID:24095155 PMID:24507666 PMID:24642510 PMID:24692096 PMID:25741868 PMID:26307083 PMID:26467025 PMID:27363342 PMID:27854218 PMID:28492532 NCBI chr 3:90,072,651...90,100,902
Ensembl chr 3:90,072,649...90,100,902
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 IEP RGD PMID:12383920 RGD:5688132 NCBI chr 3:73,635,805...73,708,436
Ensembl chr 3:73,635,808...73,708,415
JBrowse link
G Lama2 laminin, alpha 2 treatment ISO
IMP
IEA
ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy
ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy
OMIM:607855
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related
ClinVar Annotator: match by OMIM:607855
OMIM
ClinVar
MouseDO
PMID:0055037 PMID:1061118 PMID:2152033 PMID:7550355 PMID:8957020 PMID:9158149 PMID:9185182 PMID:9541105 PMID:9674786 PMID:9829280 PMID:10022829 PMID:10611118 PMID:10619025 PMID:10694916 PMID:10747011 PMID:10852549 PMID:11071490 PMID:11287370 PMID:11369186 PMID:11591858 PMID:11938437 PMID:12100448 PMID:12552556 PMID:12601554 PMID:16216942 PMID:17949279 PMID:18414213 PMID:18700894 PMID:19294599 PMID:19388593 PMID:20207543 PMID:21520333 PMID:21896784 PMID:21922472 PMID:21953594 PMID:22166137 PMID:22426012 PMID:22675738 PMID:23326386 PMID:23757202 PMID:23911319 PMID:24033266 PMID:24082139 PMID:24223650 PMID:24225367 PMID:24534542 PMID:24611677 PMID:24957499 PMID:25124546 PMID:25214167 PMID:25326637 PMID:25332755 PMID:25525159 PMID:25663498 PMID:25741868 PMID:26104111 PMID:26304763 PMID:26436962 PMID:26467025 PMID:26607181 PMID:26633542 PMID:27159402 PMID:27353517 PMID:27447704 PMID:27708273 PMID:27854218 PMID:27858741 PMID:27858771 PMID:27896284 PMID:27932089 PMID:28182637 PMID:28445022 PMID:28492532 PMID:28554332 PMID:28688748 PMID:28877744 PMID:29706646 PMID:30055037 PMID:30147969 PMID:30301903 PMID:30373198 PMID:30827497 PMID:32860008, PMID:28714989 RGD:13605609 NCBI chr10:26,981,285...27,617,191
Ensembl chr10:26,980,036...27,619,758
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:19889647 PMID:21285398 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25326637 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31188717 NCBI chr 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
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 NCBI chr 2:120,463,593...120,504,919
Ensembl chr 2:120,463,572...120,504,918
Ensembl chr 2:120,463,572...120,504,918
JBrowse link
G Col6a3 collagen, type VI, alpha 3 IEA OMIM:254100 MouseDO NCBI chr 1:90,766,860...90,844,001
Ensembl chr 1:90,765,923...90,843,971
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 chr12:36,380,575...36,689,503
Ensembl chr12:36,381,450...36,689,503
JBrowse link
G Fkbp14 FK506 binding protein 14 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:28492532 PMID:28617417 PMID:31132235 NCBI chr 6:54,577,602...54,597,344
Ensembl chr 6:54,577,604...54,597,308
JBrowse link
G Lama2 laminin, alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr10:26,981,285...27,617,191
Ensembl chr10:26,980,036...27,619,758
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar NCBI chr 8:72,814,598...73,353,721
Ensembl chr 8:72,814,599...73,353,540
JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:15770669 PMID:25741868 PMID:26467025 PMID:26900797 PMID:28492532 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:52,136,640...52,338,798
Ensembl chr 2:52,136,647...52,378,474
JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Congenital muscular dystrophy
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
ClinVar Annotator: match by term: Muscular dystrophy, congenital
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:30961548 NCBI chr 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:23757202 PMID:24033266 NCBI chr 2:32,236,590...32,255,005
Ensembl chr 2:32,236,590...32,255,005
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr12:87,106,861...87,147,968
Ensembl chr12:87,106,861...87,147,968
JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:52,072,815...52,126,769
Ensembl chr 2:52,072,832...52,122,383
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle 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 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
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:30961548 NCBI chr 4:116,161,881...116,167,621
Ensembl chr 4:116,161,869...116,167,601
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
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 chr12:36,380,575...36,689,503
Ensembl chr12:36,381,450...36,689,503
JBrowse link
G Itga7 integrin alpha 7 ISO
IMP
IEA
ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
OMIM:613204
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related
ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to ITGA7 deficiency
ClinVar Annotator: match by OMIM:613204
OMIM
ClinVar
MouseDO
PMID:9590299 PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532, PMID:9354797 RGD:13601979 NCBI chr10:128,933,421...128,958,286
Ensembl chr10:128,933,818...128,958,282
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 ISO
IEA
ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related
OMIM:613205
associated with Dropped Head Syndromes;DNA:missense mutations:cds:p.N39S, p.R249W, p.E358K (human)
ClinVar Annotator: match by OMIM:613205
OMIM
ClinVar
MouseDO
PMID:10612827 PMID:10655060 PMID:10939567 PMID:11503164 PMID:11792809 PMID:12057196 PMID:12467752 PMID:12629077 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14749366 PMID:15140538 PMID:15148145 PMID:15205219 PMID:15372542 PMID:15475483 PMID:15622532 PMID:15961312 PMID:15998779 PMID:16174718 PMID:16440304 PMID:17274801 PMID:17377071 PMID:17881656 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18551513 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20848652 PMID:20886652 PMID:20980393 PMID:21465660 PMID:21520333 PMID:21535365 PMID:21632249 PMID:21653823 PMID:22090424 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22491857 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23427149 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24375749 PMID:24503780 PMID:24508248 PMID:24642510 PMID:24656463 PMID:24721642 PMID:24768879 PMID:24806962 PMID:24846508 PMID:25214167 PMID:25326635 PMID:25637381 PMID:25741868 PMID:26098624 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27876398 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29791652 PMID:29893365 PMID:30055862 PMID:30165862, PMID:24508248 RGD:12791283 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
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, 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 chr10:26,981,285...27,617,191
Ensembl chr10:26,980,036...27,619,758
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 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY ClinVar
OMIM
PMID:28190456 PMID:28190459 NCBI chr11:75,629,067...75,648,865
Ensembl chr11:75,630,988...75,648,871
JBrowse link
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s)