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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


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muscular disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:4126124 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11102975, PMID:18380285 NCBI chr 3:103,073,897...103,099,720
Ensembl chr 3:103,074,014...103,099,720
JBrowse link
G Arg1 arginase, liver ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr10:24,915,207...24,927,470
Ensembl chr10:24,915,221...24,927,484
JBrowse link
G Clu clusterin ISO RGD PMID:15912881 RGD:1626306 NCBI chr14:65,968,483...65,981,548
Ensembl chr14:65,968,483...65,981,547
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO variable myopathy, R503C
CTD Direct Evidence: marker/mechanism
CTD PMID:18380285, PMID:10873395 RGD:734814 NCBI chr 4:107,903,982...107,923,589
Ensembl chr 4:107,903,981...107,923,610
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chr12:36,380,575...36,689,503
Ensembl chr12:36,381,450...36,689,503
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699 NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G Ctsb cathepsin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:7099197 NCBI chr14:63,122,462...63,145,923
Ensembl chr14:63,122,462...63,145,923
JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr 2:118,388,583...118,475,234
Ensembl chr 2:118,388,618...118,475,234
JBrowse link
G Fabp3 fatty acid binding protein 3, muscle and heart ISO CTD Direct Evidence: marker/mechanism CTD PMID:18308699 NCBI chr 4:130,308,738...130,315,463
Ensembl chr 4:130,308,595...130,315,463
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29905857 NCBI chr 6:87,042,846...87,092,207
Ensembl chr 6:87,042,846...87,092,197
JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22961002 NCBI chr11:54,866,383...54,870,506
Ensembl chr11:54,866,383...54,870,501
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23953224, PMID:21360500 RGD:5508448 NCBI chr13:96,648,962...96,670,936
Ensembl chr13:96,648,967...96,670,936
JBrowse link
G Htr3b 5-hydroxytryptamine (serotonin) receptor 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17600820 NCBI chr 9:48,935,008...48,964,990
Ensembl chr 9:48,935,008...48,964,990
JBrowse link
G Htr7 5-hydroxytryptamine (serotonin) receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17600820 NCBI chr19:35,958,415...36,058,133
Ensembl chr19:35,958,734...36,057,507
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9184656 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: marker/mechanism CTD PMID:496411 NCBI chr 7:142,678,656...142,679,726
Ensembl chr 7:142,678,656...142,743,381
JBrowse link
G Itga7 integrin alpha 7 ISO RGD PMID:9590299 RGD:1600024 NCBI chr10:128,933,421...128,958,286
Ensembl chr10:128,933,818...128,958,282
JBrowse link
G Lpl lipoprotein lipase ISO RGD PMID:7635990 RGD:1302535 NCBI chr 8:68,880,555...68,906,932
Ensembl chr 8:68,880,491...68,907,448
JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15946989 NCBI chr  X:16,619,698...16,687,812
Ensembl chr  X:16,619,698...16,687,818
JBrowse link
G Megf10 multiple EGF-like-domains 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22101682 NCBI chr18:57,133,090...57,297,467
Ensembl chr18:57,133,090...57,297,467
JBrowse link
G Micu1 mitochondrial calcium uptake 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24336167 NCBI chr10:59,702,563...59,864,134
Ensembl chr10:59,702,477...59,864,132
JBrowse link
G mt-Rnr1 12S rRNA, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:12031626 NCBI chr MT:70...1,024
Ensembl chr MT:70...1,024
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19683050 NCBI chr15:85,734,910...85,806,851
Ensembl chr15:85,734,983...85,802,819
JBrowse link
G Prkcd protein kinase C, delta ISO associated with Diabetes Mellitus, Type 1;protein:increased expression:skeletal muscle RGD PMID:9458880 RGD:1642535 NCBI chr14:30,595,353...30,626,414
Ensembl chr14:30,595,354...30,626,210
JBrowse link
G Pygm muscle glycogen phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18380285 NCBI chr19:6,384,408...6,398,464
Ensembl chr19:6,384,399...6,398,459
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO CTD Direct Evidence: marker/mechanism CTD PMID:9668287 NCBI chr 2:91,035,472...91,045,729
Ensembl chr 2:91,035,620...91,045,729
JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:73,634,790...73,703,791
Ensembl chr18:73,639,009...73,703,780
JBrowse link
G Sox6 SRY (sex determining region Y)-box 6 IDA RGD PMID:10760285 RGD:1580857 NCBI chr 7:115,470,872...116,040,776
Ensembl chr 7:115,470,872...116,038,796
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21152098 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tnni2 troponin I, skeletal, fast 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19628585 NCBI chr 7:142,441,816...142,444,410
Ensembl chr 7:142,441,808...142,444,410
JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15802564 NCBI chr 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
JBrowse link
G Tubg1 tubulin, gamma 1 ISO RGD PMID:15912881 RGD:1626306 NCBI chr11:101,119,904...101,126,423
Ensembl chr11:101,119,938...101,126,419
JBrowse link
G Xdh xanthine dehydrogenase treatment ISO RGD PMID:9789800 RGD:13209133 NCBI chr17:73,883,895...73,950,397
Ensembl chr17:73,883,895...73,950,196
JBrowse link
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonoyl-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:11170888, PMID:14680978, PMID:24033266, PMID:25356967, PMID:25741868, 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 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:12601110, PMID:12921789, PMID:15226407, PMID:15236405, PMID:15468086, PMID:16427282, PMID:16945536, PMID:16967490, PMID:17227580, PMID:17387733, PMID:17705262, PMID:18414213, PMID:19206168, PMID:19553121, PMID:19562689, PMID:20303757, PMID:20621480, PMID:21514153, PMID:21520333, PMID:22442437, PMID:23102861, PMID:23294764, PMID:23394784, PMID:23650303, PMID:24033266, PMID:24642510, PMID:24787270, PMID:24852243, PMID:25182138, PMID:25214167, PMID:25326635, PMID:25470062, PMID:25525159, PMID:25635128, PMID:25741868, PMID:25890230, PMID:26172852, PMID:26436962, PMID:26467025, PMID:26507755, PMID:27447704, PMID:27854218, PMID:28256728, PMID:28357410, PMID:28416349, PMID:28492532, PMID:29274205, PMID:29792937, PMID:30253894, PMID:30311386, PMID:30354303 NCBI chr 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:30311386, 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:2393019, PMID:8484404, PMID:12871948, PMID:14661163, PMID:15889350, PMID:15980113, PMID:18187543, PMID:18398436, PMID:18414213, PMID:20628049, PMID:20655035, PMID:21098685, PMID:21896621, PMID:22805248, PMID:23550058, PMID:23568789, PMID:24265446, PMID:24629861, PMID:24665922, PMID:24721225, PMID:25167861, PMID:25527620, PMID:25644381, PMID:25741868, PMID:27212794, PMID:27672545, 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:22176657, 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:27854218, 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:28815208, 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:30311386, 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
ARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO
IEA
CTD Direct Evidence: marker/mechanism
OMIM:208085 | OMIM:613404
CTD
MouseDO
PMID:20190753 NCBI chr12:87,238,875...87,266,378
Ensembl chr12:87,238,868...87,266,256
JBrowse link
G Vps33b vacuolar protein sorting 33B ISO
IEA
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD Direct Evidence: marker/mechanism
OMIM:208085 | OMIM:613404
ClinVar
CTD
MouseDO
PMID:25741868 NCBI chr 7:80,269,621...80,291,579
Ensembl chr 7:80,269,649...80,291,754
JBrowse link
Arthrogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg6 adhesion G protein-coupled receptor G6 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:26004201, PMID:26752647 NCBI chr10:14,402,583...14,545,723
Ensembl chr10:14,402,583...14,545,659
JBrowse link
G Chrng cholinergic receptor, nicotinic, gamma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16826520, PMID:16826531 NCBI chr 1:87,205,811...87,211,835
Ensembl chr 1:87,204,657...87,212,694
JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:23236030, PMID:23261301, PMID:24782201, PMID:25099528, PMID:25708584, PMID:25741868 NCBI chr 1:87,142,874...87,157,085
Ensembl chr 1:87,147,655...87,156,521
JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr14:32,513,291...32,580,990
Ensembl chr14:32,513,521...32,580,990
JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:30311386 NCBI chr12:49,382,883...49,386,867
Ensembl chr12:49,382,660...49,386,861
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:149,176,319...149,307,773
Ensembl chr 4:149,176,319...149,307,693
JBrowse link
G Myh3 myosin, heavy polypeptide 3, skeletal muscle, embryonic ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 NCBI chr11:67,078,273...67,102,291
Ensembl chr11:67,078,300...67,102,291
JBrowse link
G Myh8 myosin, heavy polypeptide 8, skeletal muscle, perinatal ISO Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q RGD PMID:15282353 RGD:1600548 NCBI chr11:67,277,124...67,308,634
Ensembl chr11:67,277,124...67,308,634
JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:31260566 NCBI chr 7:46,376,474...46,379,092
Ensembl chr 7:46,376,474...46,379,099
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:8423615, PMID:11152147, PMID:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:31680123 NCBI chr18:63,010,213...63,387,716
Ensembl chr18:63,010,213...63,387,183
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:20839240, PMID:21911697, PMID:22473935, PMID:25658027, PMID:25735680, PMID:25741868, PMID:28492532, PMID:30311386, PMID:31680123 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:20220177, PMID:21291453, PMID:25741868, PMID:26392352, PMID:26794302, PMID:28492532, PMID:30311386 NCBI chr18:61,952,928...62,015,719
Ensembl chr18:61,953,075...62,024,402
JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO DNA:mutation:splice junction: RGD PMID:19542096 RGD:13209012 NCBI chr10:5,020,192...5,550,692
Ensembl chr10:5,020,917...5,551,482
JBrowse link
G Tnni2 troponin I, skeletal, fast 2 ISO distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal
ClinVar PMID:25741868, PMID:12592607 RGD:1599481 NCBI chr 7:142,441,816...142,444,410
Ensembl chr 7:142,441,808...142,444,410
JBrowse link
G Tnnt3 troponin T3, skeletal, fast ISO distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita
ClinVar PMID:25741868, PMID:28492532, PMID:12865991 RGD:1599490 NCBI chr 7:142,498,771...142,516,213
Ensembl chr 7:142,498,836...142,516,009
JBrowse link
G Tpm2 tropomyosin 2, beta ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:11738357, PMID:23757202, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765
JBrowse link
G Vps33b vacuolar protein sorting 33B ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 7:80,269,621...80,291,579
Ensembl chr 7:80,269,649...80,291,754
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
Arthrogryposis Multiplex Congenita 3, Myogenic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 (alpha) ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE ClinVar PMID:27782104 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: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE
OMIM
ClinVar
PMID:19542096, PMID:24319099, PMID:25741868, PMID:26467025, PMID:27782104, PMID:28492532 NCBI chr10:5,020,192...5,550,692
Ensembl chr10:5,020,917...5,551,482
JBrowse link
Arthrogryposis Multiplex Congenita 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A (torsin A) ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 ClinVar
OMIM
PMID:25741868, PMID:28516161, PMID:29053766, PMID:30244176 NCBI chr 2:30,960,561...30,967,918
Ensembl chr 2:30,960,627...30,967,933
JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3, catalytic subunit, alpha isoform ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar
OMIM
PMID:29432562 NCBI chr 3:136,669,714...136,937,727
Ensembl chr 3:136,670,124...136,937,727
JBrowse link
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc35a3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3 ISO ClinVar Annotator: match by term: Arthrogryposis, mental retardation, and seizures
ClinVar Annotator: match by OMIM:615553
OMIM
ClinVar
PMID:24031089, PMID:25741868, PMID:28492532, PMID:28777481 NCBI chr 3:116,669,469...116,712,708
Ensembl chr 3:116,669,470...116,712,831
JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA (never in mitosis gene a)-related expressed kinase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy ClinVar
OMIM
PMID:26633546 NCBI chr12:85,299,514...85,339,362
Ensembl chr12:85,299,514...85,339,362
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868, PMID:31319225 NCBI chr12:87,238,875...87,266,378
Ensembl chr12:87,238,868...87,266,256
JBrowse link
G Vps33b vacuolar protein sorting 33B ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM
ClinVar
PMID:8151641, PMID:11668108, PMID:15052268, PMID:16896922, PMID:17994566, PMID:18853461, PMID:19274792, PMID:21851503, PMID:22753090, PMID:24782640, PMID:24917129, PMID:25741868, PMID:28492532, PMID:31479177 NCBI chr 7:80,269,621...80,291,579
Ensembl chr 7:80,269,649...80,291,754
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 ClinVar
OMIM
PMID:20190753, PMID:25741868, PMID:28492532 NCBI chr12:87,238,875...87,266,378
Ensembl chr12:87,238,868...87,266,256
JBrowse link
autosomal dominant centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:31260566 NCBI chr 7:46,376,474...46,379,092
Ensembl chr 7:46,376,474...46,379,099
JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank progressive ankylosis ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar Annotator: match by OMIM:123000
OMIM
ClinVar
PMID:2712793, PMID:11326272, PMID:11326338, PMID:19449425, PMID:20358596, PMID:26467025, PMID:28492532, PMID:30311386, PMID:11326272 RGD:734571 NCBI chr15:27,466,677...27,594,909
Ensembl chr15:27,466,677...27,594,909
JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar PMID:2712793, PMID:11326272, PMID:11326338, PMID:19449425, PMID:20358596, PMID:28492532 NCBI chr15:27,597,055...27,630,977
Ensembl chr15:27,542,635...27,630,693
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: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
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: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:30311386, 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:27197992, PMID:27305979, PMID:28017257, PMID:28074886, PMID:28178086, PMID:28492532, PMID:28750076, PMID:29625556, PMID:29961767, PMID:30029642, PMID:30275942, PMID:30311386, 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
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, PMID:30311386 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:30311386, PMID:30511546, PMID:30871747, PMID:31333075, 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 OMIM
ClinVar
PMID:9150160, PMID:10330340, PMID:18055493, PMID:19556129, PMID:22443334, PMID:26467025, PMID:27259757, 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:30311386, 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: 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: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 craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive type OMIM
ClinVar
PMID:11146471, PMID:23951358, PMID:25741868 NCBI chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
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: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, PMID:30311386 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:31333075, 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 Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:7720071, PMID:9266733, PMID:10330340, PMID:10679950, PMID:12461690, PMID:14578192, PMID:14981715, PMID:15221789, PMID:15351423, PMID:15689361, PMID:15725583, PMID:16100770, PMID:16141003, PMID:16650086, PMID:17318636, PMID:18055493, PMID:18414213, PMID:18854868, PMID:18854869, PMID:19835634, PMID:20635405, PMID:21204801, PMID:21984748, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27142102, PMID:28492532, PMID:30311386 NCBI chr 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, PMID:30311386 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:23861362, PMID:24001739, PMID:24033266, PMID:24721642, PMID:25741868, PMID:26467025, PMID:26602028, PMID:27896052, PMID:28492532, PMID:28679633, PMID:28785654, PMID:30311386 NCBI chr 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:15466003, PMID:17869517, PMID:17906881, PMID:19299310, PMID:22323514, PMID:22554691, PMID:23894383, PMID:25741868, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386 NCBI chr 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:15466003, PMID:17869517, PMID:17906881, PMID:19299310, PMID:22323514, PMID:22554691, PMID:23894383, PMID:25741868, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386 NCBI chr 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: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: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:30311386, 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 Tgfbr2 transforming growth factor, beta receptor II ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A ClinVar PMID:25326637, PMID:25741868 NCBI chr 9:116,087,695...116,175,363
Ensembl chr 9:116,084,293...116,175,360
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: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:24488599, PMID:24838345, PMID:25135358, PMID:25143362, PMID:25312915, PMID:25326637, PMID:25493284, 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:26404900, PMID:26436962, PMID:26467025, PMID:26579332, PMID:26671124, PMID:26806107, PMID:26916285, PMID:27066573, 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:30311386, 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: Duchenne-like autosomal recessive muscular dystrophy, type 2
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:30311386, 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: 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: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 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, PMID:30311386 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, PMID:30311386 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:17446099, PMID:17554798, PMID:17559086, PMID:17952692, PMID:17994539, 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: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:25048216, PMID:25560911, PMID:25741868, PMID:25987458, PMID:26363967, PMID:26436962, PMID:26467025, PMID:26574668, PMID:26833294, PMID:26923585, PMID:27439679, PMID:27671536, PMID:27848944, PMID:27854218, PMID:27884173, PMID:28454995, PMID:28492532, PMID:28688748, PMID:28931339, PMID:30003095, PMID:30311386, 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:17976239, 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: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: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: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: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:29361395, PMID:29386531, PMID:29447731, PMID:29540445, PMID:29691892, PMID:29970176, PMID:30311386, PMID:30371277, PMID:30429050, PMID:30535219, PMID:30615648, PMID:30924900, PMID:30993396, PMID:31127727 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, PMID:30311386 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:30311386, 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: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:30311386, 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 Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L ClinVar PMID:16835936, PMID:19006240, PMID:25326637, PMID:25525159, PMID:25741868, PMID:26038974, PMID:28492532 NCBI chr18:58,008,623...58,210,572
Ensembl chr18:58,008,623...58,210,487
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
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 Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14 ClinVar PMID:18487244, PMID:21301859, PMID:21880868, PMID:22000311, PMID:22114710, PMID:22357363, PMID:24033266, PMID:24508722, PMID:25203713, PMID:25741868, PMID:26095671, PMID:27854218, PMID:27987238, PMID:28337550, PMID:28492532 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
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: 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:30311386, PMID:30937090, PMID:30961548 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: 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:30311386, PMID:30937090, PMID:30961548 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:30311386, 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:21109228, PMID:25741868, PMID:28492532, PMID:30311386, 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:28914264, PMID:29437916, PMID:30060766, PMID:30257713, PMID:30311386, 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 with mitochondrial DNA deletions, autosomal recessive 1
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, 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: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:30311386, PMID:30373890, PMID:30843307 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
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: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
Axial Myopathy, Late-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Axial myopathy, late-onset ClinVar PMID:24033266, PMID:28492532 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
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:7981747, PMID:8223790, PMID:8279470, PMID:8281150, PMID:8301652, PMID:8322822, PMID:8401537, PMID:8504498, PMID:8652023, PMID:8840119, PMID:8902723, PMID:9170393, PMID:9224530, PMID:9410897, PMID:9544849, PMID:10832829, PMID:11039581, PMID:11053684, PMID:11404124, PMID:11710958, PMID:11879882, PMID:12522557, PMID:12632325, PMID:12754707, PMID:14600829, 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:23092449, PMID:23263593, 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:28580208, PMID:28859693, PMID:28878402, PMID:29581631, PMID:29641567, PMID:29973226 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:17259292, PMID:19937601, PMID:23757202, PMID:24033266, PMID:25447171, PMID:25741868, PMID:26467025, PMID:28492532 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
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
CTD
MouseDO
PMID:11865138, PMID:15689448, PMID:16130093, PMID:18414213, PMID:18852439, PMID:19949035, PMID:20302629, PMID:20981092, PMID:22426012, PMID:23040494, PMID:23564457, PMID:23757202, PMID:24033266, PMID:24038877, PMID:25741868, PMID:26467025, PMID:27884173, PMID:28492532, PMID:30311386, PMID:30564623 NCBI 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:10329467, PMID:10419498, 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:18852439, PMID:19344236, PMID:19564581, PMID:19884007, PMID:19949035, PMID:20301468, PMID:20302629, PMID:20576434, PMID:20882040, PMID:20976770, PMID:20981092, PMID:21280092, PMID:21520333, PMID:22075033, PMID:22426012, PMID:22975586, PMID:23040494, PMID:23326386, PMID:23564457, 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:30311386, 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: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:11381124, PMID:11865138, PMID:11932968, PMID:15563506, PMID:15689448, PMID:16935502, PMID:17537636, PMID:17785673, PMID:17886299, PMID:18366090, PMID:18378883, PMID:18414213, PMID:18825676, PMID:18852439, PMID:19344236, PMID:19564581, PMID:19949035, PMID:20976770, PMID:20981092, PMID:21280092, PMID:22995991, PMID:23040494, PMID:23175733, PMID:23564457, 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:30311386, 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 Fragility with Contractures, Arterial Rupture, and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness
ClinVar Annotator: match by OMIM:612394
OMIM
ClinVar
PMID:18834968, PMID:25741868, PMID:28492532 NCBI chr 5:136,987,019...136,996,646
Ensembl chr 5:136,987,019...136,996,648
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
Bruck syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FK506 binding protein 10 ISS
ISO
OMIM:259450 | OMIM:609220
ClinVar Annotator: match by term: Bruck Syndrome
MouseDO
ClinVar
PMID:25741868 NCBI chr11:100,415,694...100,424,840
Ensembl chr11:100,415,697...100,424,824
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISS OMIM:259450 | OMIM:609220 MouseDO NCBI chr 9:92,539,636...92,608,428
Ensembl chr 9:92,542,223...92,608,428
JBrowse link
Bruck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FK506 binding protein 10 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Bruck syndrome 1
ClinVar Annotator: match by term: Kuskokwim disease
ClinVar Annotator: match by OMIM:259450
ClinVar
OMIM
PMID:9129737, PMID:9481655, PMID:9927692, PMID:20362275, PMID:20696291, PMID:20839288, PMID:21567934, PMID:22949511, PMID:23712425, PMID:25741868 NCBI chr11:100,415,694...100,424,840
Ensembl chr11:100,415,697...100,424,824
JBrowse link
Bruck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Bruck syndrome 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609220
OMIM
ClinVar
PMID:9927692, PMID:12881513, PMID:15523624, PMID:22689593, PMID:25086671, PMID:25741868, PMID:28492532, PMID:29178448 NCBI chr 9:92,539,636...92,608,428
Ensembl chr 9:92,542,223...92,608,428
JBrowse link
Camptocormia 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: Bent Spine Syndrome ClinVar PMID:12707239, PMID:23861362, PMID:24033266, PMID:24793961, PMID:25467552, PMID:25741868, PMID:25961035, PMID:26627873, PMID:26969127, PMID:27247418, PMID:27532257, PMID:28492532, PMID:29300372 NCBI chr14:54,970,684...54,994,626
Ensembl chr14:54,970,684...54,994,626
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Camptocormism ClinVar PMID:16621917, PMID:17452231, PMID:18546365, PMID:19189930, PMID:19578034, PMID:19752458, PMID:19815814, PMID:20227526, PMID:20803511, PMID:21856450, PMID:21880868, PMID:22647225, PMID:22727047, PMID:23808377, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27271921, PMID:28130605, PMID:28492532 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Rrm2b ribonucleotide reductase M2 B (TP53 inducible) ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:17486094, PMID:21378381 NCBI chr15:37,923,952...37,961,119
Ensembl chr15:37,923,952...37,961,318
JBrowse link
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences ClinVar
OMIM
PMID:7131178, PMID:25741868, PMID:28681861, PMID:29560417, PMID:30016436 NCBI chr 2:27,061,636...27,072,161
Ensembl chr 2:27,061,636...27,072,179
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 Annotator: match by term: Carney triad
ClinVar PMID:20484225, PMID:21505157, PMID:21752896, PMID:22955521, PMID:23174939, PMID:23252569, PMID:23612575, PMID:23666964, PMID:23730622, PMID:24781757, PMID:25494863, PMID:25741868, PMID:26113600, PMID:26173966, PMID:26259135, PMID:26269449, PMID:26490314, PMID:27895137, PMID:28384794, PMID:28492532, PMID:28500238, PMID:28819017, PMID:29872718, PMID:30068732, PMID:30311386 NCBI 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: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
catecholaminergic polymorphic ventricular tachycardia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trdn triadin ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
ClinVar Annotator: match by OMIM:615441
OMIM
ClinVar
PMID:22422768, PMID:24033266, PMID:25326635, PMID:25741868, PMID:25922419, PMID:26200674, PMID:28492532 NCBI chr10:33,083,483...33,476,709
Ensembl chr10:33,080,554...33,476,709
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 disease
ClinVar Annotator: match by term: Central core myopathy
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: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: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:30311386, 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: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, PMID:30311386 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, PMID:30311386 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: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: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: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:30311386, PMID:30373890, PMID:30843307 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ISO DNA:missense mutations:p.R616W, p.D681N (human)
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
ClinVar Annotator: match by OMIM:610756
ClinVar
OMIM
PMID:7585650, PMID:7920640, PMID:8571952, PMID:9101292, PMID:9238033, PMID:11156600, PMID:11443545, PMID:11710928, PMID:12820975, PMID:15494306, PMID:18470933, PMID:18603627, PMID:18628313, PMID:18637129, PMID:20944642, PMID:22826098, PMID:23221806, PMID:23232694, PMID:23800062, PMID:24033266, PMID:24252196, PMID:24448499, PMID:24728327, PMID:25620205, PMID:25716912, PMID:25741868, PMID:26556299, PMID:27004399, PMID:27745642, PMID:29478780, PMID:11443545 RGD:1601070 NCBI chr 7:19,382,017...19,395,694
Ensembl chr 7:19,382,010...19,395,694
JBrowse link
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd3eap CD3E antigen, epsilon polypeptide associated protein ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:19,356,007...19,359,483
Ensembl chr 7:19,356,014...19,359,483
JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4
ClinVar Annotator: match by OMIM:610758
OMIM
ClinVar
PMID:17273966, PMID:23623389, PMID:25741868, PMID:28492532 NCBI chr 7:19,344,067...19,356,524
Ensembl chr 7:19,344,778...19,356,524
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CTS telomere maintenance complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
P