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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 EXP CTD Direct Evidence: therapeutic CTD PMID:4126124 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11102975, PMID:18380285 NCBI chr 1:114,673,098...114,695,618
Ensembl chr 1:114,673,090...114,695,618
JBrowse link
G ARG1 arginase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G CLU clusterin IDA RGD PMID:15912881 RGD:1626306 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP
EXP
variable myopathy, R503C
CTD Direct Evidence: marker/mechanism
CTD PMID:18380285, PMID:10873395 RGD:734814 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A EXP CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7543699 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CTSB cathepsin B EXP CTD Direct Evidence: marker/mechanism CTD PMID:7099197 NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,448
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
G FABP3 fatty acid binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18308699 NCBI chr 1:31,359,595...31,373,618
Ensembl chr 1:31,365,253...31,376,850
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29905857 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,769...69,387,254
Ensembl chr 2:69,319,769...69,387,254
JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22961002 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468
Ensembl chr 5:131,155,383...131,224,468
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase IDA
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:23953224, PMID:21360500 RGD:5508448 NCBI chr 5:75,336,334...75,362,116
Ensembl chr 5:75,336,329...75,362,101
JBrowse link
G HTR3B 5-hydroxytryptamine receptor 3B EXP CTD Direct Evidence: marker/mechanism CTD PMID:17600820 NCBI chr11:113,898,923...113,949,119
Ensembl chr11:113,904,677...113,949,078
JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17600820 NCBI chr10:90,738,693...90,858,039
Ensembl chr10:90,740,823...90,858,039
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:9184656 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G INS insulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:496411 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,341
Ensembl chr11:2,159,779...2,161,341
JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP RGD PMID:9590299 RGD:1600024 NCBI chr12:55,684,568...55,716,037
Ensembl chr12:55,684,568...55,716,043
JBrowse link
G LPL lipoprotein lipase IMP RGD PMID:7635990 RGD:1302535 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G MAOA monoamine oxidase A EXP CTD Direct Evidence: marker/mechanism CTD PMID:15946989 NCBI chr  X:43,655,006...43,746,817
Ensembl chr  X:43,654,907...43,746,824
JBrowse link
G MEGF10 multiple EGF like domains 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22101682 NCBI chr 5:127,229,519...127,461,222
Ensembl chr 5:127,290,796...127,465,737
JBrowse link
G MICU1 mitochondrial calcium uptake 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24336167 NCBI chr10:72,367,339...72,626,096
Ensembl chr10:72,367,327...72,626,191
JBrowse link
G MT-RNR1 mitochondrially encoded 12S rRNA EXP CTD Direct Evidence: marker/mechanism CTD PMID:12031626 NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:19683050 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,756
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 chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PYGM glycogen phosphorylase, muscle associated EXP CTD Direct Evidence: marker/mechanism CTD PMID:18380285 NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974
JBrowse link
G RAPSN receptor associated protein of the synapse EXP CTD Direct Evidence: marker/mechanism CTD PMID:9668287 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
JBrowse link
G SLCO1B1 solute carrier organic anion transporter family member 1B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15681900, PMID:18650507, PMID:19238167, PMID:19833260, PMID:21243006 NCBI chr12:21,131,194...21,239,796
Ensembl chr12:21,131,194...21,239,796
JBrowse link
G SMAD4 SMAD family member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SOX6 SRY-box transcription factor 6 ISO RGD PMID:10760285 RGD:1580857 NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591
JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21152098 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TNNI2 troponin I2, fast skeletal type EXP CTD Direct Evidence: marker/mechanism CTD PMID:19628585 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680
JBrowse link
G TTN titin EXP CTD Direct Evidence: marker/mechanism CTD PMID:15802564 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TUBG1 tubulin gamma 1 IDA RGD PMID:15912881 RGD:1626306 NCBI chr17:42,609,390...42,615,238
Ensembl chr17:42,609,683...42,615,238
JBrowse link
G XDH xanthine dehydrogenase treatment ISO RGD PMID:9789800 RGD:13209133 NCBI chr 2:31,334,320...31,414,777
Ensembl chr 2:31,334,321...31,414,742
JBrowse link
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCCC1 methylcrotonoyl-CoA carboxylase 1 IAGP ClinVar Annotator: match by term: 3 Methylcrotonyl-CoA carboxylase 1 deficiency
ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar
OMIM
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 3:183,015,218...183,099,587
Ensembl chr 3:183,015,218...183,116,075
JBrowse link
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCCC2 methylcrotonoyl-CoA carboxylase 2 IAGP ClinVar Annotator: match by term: 3-methylcrotonyl CoA carboxylase 2 deficiency ClinVar
OMIM
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 chr 5:71,587,340...71,658,706
Ensembl chr 5:71,587,288...71,658,706
JBrowse link
3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCCC1 methylcrotonoyl-CoA carboxylase 1 IAGP 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 3:183,015,218...183,099,587
Ensembl chr 3:183,015,218...183,116,075
JBrowse link
G MCCC2 methylcrotonoyl-CoA carboxylase 2 IAGP ClinVar Annotator: match by term: 3-MCC Deficiency ClinVar NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,587,288...71,658,706
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 IAGP 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 1:229,431,245...229,434,094
Ensembl chr 1:229,431,245...229,434,098
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 IAGP ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria
ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive
ClinVar Annotator: match by term: Myoglobinuria, recurrent, autosomal recessive
ClinVar
OMIM
PMID:18591397, PMID:18817903, PMID:20583302, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409
JBrowse link
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway EXP CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G CCN2 cellular communication network factor 2 IEP mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility IAGP associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARP7 La ribonucleoprotein 7, transcriptional regulator IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar
OMIM
PMID:22865833, PMID:25741868, PMID:30006060, PMID:30311386, PMID:32860008 NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,107...112,657,592
JBrowse link
G MIR302CHG miR-302/367 cluster host gene IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:22865833, PMID:25741868, PMID:30006060, PMID:30311386, PMID:32860008 NCBI chr 4:112,646,720...112,650,051
Ensembl chr 4:112,646,476...112,650,051
JBrowse link
G MIR302D microRNA 302d IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 4:112,648,004...112,648,071
Ensembl chr 4:112,648,004...112,648,071
JBrowse link
G MIR367 microRNA 367 IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 4:112,647,874...112,647,941
Ensembl chr 4:112,647,874...112,647,941
JBrowse link
Alcohol Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO RGD PMID:14506614 RGD:1581765 NCBI chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,509
Ensembl chr16:28,878,405...28,904,509
JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC16A2 solute carrier family 16 member 2 IAGP ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome
ClinVar Annotator: match by term: MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
ClinVar
OMIM
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:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917
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 IEP RGD PMID:20680636 RGD:5148026 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G EDAR ectodysplasin A receptor IAGP ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241, PMID:18231121, PMID:20236127, PMID:20979233, PMID:25741868, PMID:28492532 NCBI chr 2:108,894,471...108,989,256
Ensembl chr 2:108,894,471...108,989,372
JBrowse link
G FANCI FA complementation group I IAGP 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 chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G MIR6766 microRNA 6766 IAGP ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868, PMID:28492532 NCBI chr15:89,326,739...89,326,810
Ensembl chr15:89,326,739...89,326,810
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility IAGP
EXP
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 chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G RLBP1 retinaldehyde binding protein 1 IAGP ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr15:89,209,869...89,223,179
Ensembl chr15:89,209,869...89,221,614
JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma ClinVar PMID:11257105, PMID:16454848, PMID:18199528, PMID:21859464, PMID:24033266, PMID:25637381, PMID:25741868, PMID:26580448, PMID:27535533, PMID:28492532, PMID:28503720 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G FOXO1 forkhead box O1 IAGP OMIM NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
JBrowse link
G PAX3 paired box 3 IAGP DNA:translocations: (human)
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma
ClinVar
OMIM
PMID:24033266, PMID:25741868, PMID:15313887 RGD:1580944 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,888...222,298,996
Ensembl chr 2:222,199,888...222,298,996
JBrowse link
G PAX7 paired box 7 IAGP ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 OMIM
ClinVar
PMID:25741868, PMID:31092906, PMID:32214227 NCBI chr 1:18,630,846...18,748,866
Ensembl chr 1:18,630,846...18,748,866
JBrowse link
G TP73 tumor protein p73 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
JBrowse link
G WWTR1 WW domain containing transcription regulator 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 3:149,517,235...149,724,788
Ensembl chr 3:149,517,235...149,736,714
JBrowse link
alveolar soft part sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing IAGP OMIM NCBI chr17:81,977,550...82,017,669
Ensembl chr17:81,976,807...82,017,406
JBrowse link
Amyopathic Dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IEP
IAGP
DNA:polymorphism: :HLA-DQA1*0501;
DNA:polymorphism (human)
RGD PMID:18671865, PMID:8666549, PMID:15067086 RGD:5147790, RGD:8547569, RGD:5147796 NCBI chr 6:32,637,406...32,654,846
Ensembl chr 6:32,628,179...32,647,062
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 IAGP ClinVar Annotator: match by term: Myopathy, distal, 2
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 21
ClinVar
OMIM
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 chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671
JBrowse link
G SNHG4 small nucleolar RNA host gene 4 IAGP ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 21 ClinVar NCBI chr 5:139,273,752...139,283,184
Ensembl chr 5:139,274,102...139,284,899
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 IAGP OMIM NCBI chr 2:207,529,943...207,605,988
Ensembl chr 2:207,529,737...207,605,988
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 IAGP ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20190753 NCBI chr14:77,426,675...77,457,727
Ensembl chr14:77,426,675...77,457,952
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP
EXP
ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr15:90,998,416...91,022,839
Ensembl chr15:90,998,416...91,022,603
Ensembl chr15:90,998,416...91,022,603
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 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:26004201, PMID:26752647 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:16826520, PMID:16826531 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:23236030, PMID:23261301, PMID:24782201, PMID:25099528, PMID:25708584, PMID:25741868 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,470...49,539,538
JBrowse link
G FOXG1 forkhead box G1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:30311386 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,766,787...28,770,277
Ensembl chr14:28,766,787...28,770,277
JBrowse link
G KIF1B kinesin family member 1B IAGP ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
JBrowse link
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 NCBI chr17:10,628,527...10,678,347
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G MYH8 myosin heavy chain 8 IAGP Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q RGD PMID:15282353 RGD:1600548 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950
JBrowse link
G MYOD1 myogenic differentiation 1 IAGP ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:31260566 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP 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 chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
Ensembl chr18:10,666,483...11,149,569
JBrowse link
G RYR1 ryanodine receptor 1 IAGP 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 chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:20220177, PMID:21291453, PMID:25741868, PMID:26392352, PMID:26794302, PMID:28492532, PMID:30311386 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP DNA:mutation:splice junction: RGD PMID:19542096 RGD:13209012 NCBI chr 6:152,121,684...152,637,395
Ensembl chr 6:152,121,684...152,637,801
JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita
ClinVar PMID:25741868, PMID:12592607 RGD:1599481 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680
JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868, PMID:28492532 NCBI chr11:1,919,551...1,938,704
Ensembl chr11:1,919,703...1,938,706
JBrowse link
G TPM2 tropomyosin 2 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:11738357, PMID:23757202, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr15:90,998,416...91,022,839
Ensembl chr15:90,998,416...91,022,603
Ensembl chr15:90,998,416...91,022,603
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018, PMID:24195946, PMID:25741868, PMID:28492532, PMID:30611313 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
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 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE ClinVar PMID:27782104 NCBI chr 6:151,654,148...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP 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 chr 6:152,121,684...152,637,395
Ensembl chr 6:152,121,684...152,637,801
JBrowse link
G SYNE1-AS1 SYNE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE ClinVar PMID:25741868 NCBI chr 6:152,380,530...152,381,713
Ensembl chr 6:152,380,546...152,381,564
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 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 ClinVar
OMIM
PMID:25741868, PMID:28516161, PMID:29053766, PMID:30244176 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244
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 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar
OMIM
PMID:29432562 NCBI chr 4:101,023,418...101,348,295
Ensembl chr 4:101,023,409...101,348,278
JBrowse link
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC35A3 solute carrier family 35 member A3 IAGP ClinVar Annotator: match by term: Arthrogryposis, mental retardation, and seizures ClinVar
OMIM
PMID:24031089, PMID:25741868, PMID:28492532, PMID:28777481 NCBI chr 1:99,968,401...100,035,634
Ensembl chr 1:99,969,351...100,035,634
Ensembl chr 1:99,969,351...100,035,634
JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEK9 NIMA related kinase 9 IAGP ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy ClinVar
OMIM
PMID:26633546 NCBI chr14:75,079,353...75,127,637
Ensembl chr14:75,079,353...75,127,344
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 IAGP ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868, PMID:31319225 NCBI chr14:77,426,675...77,457,727
Ensembl chr14:77,426,675...77,457,952
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP 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 chr15:90,998,416...91,022,839
Ensembl chr15:90,998,416...91,022,603
Ensembl chr15:90,998,416...91,022,603
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 IAGP ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 ClinVar
OMIM
PMID:20190753, PMID:25741868, PMID:28492532 NCBI chr14:77,426,675...77,457,727
Ensembl chr14:77,426,675...77,457,952
JBrowse link
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:11222789, PMID:14985266, PMID:16534102, PMID:17661097, PMID:18200586, PMID:18799786, PMID:19841671, PMID:20186691, PMID:20981092, PMID:21623769, PMID:22554690, PMID:22571692, PMID:22964162, PMID:23065789, PMID:23269439, PMID:23733235, PMID:23812641, PMID:24033266, PMID:24727571, PMID:24731568, PMID:25133958, PMID:25497598, PMID:25525159, PMID:25681447, PMID:25714468, PMID:25741868, PMID:25976027, PMID:26094131, PMID:26260707, PMID:26374131, PMID:26467025, PMID:26506339, PMID:26626314, PMID:26671083, PMID:26756429, PMID:27016405, PMID:27084228, PMID:27165006, PMID:27181684, PMID:27217339, PMID:27260292, PMID:27957547, PMID:28362824, PMID:28492532, PMID:28608987, PMID:28832565, PMID:29026558, PMID:29057857, PMID:30311386, PMID:32581362 NCBI chr16:89,508,379...89,557,768
Ensembl chr16:89,490,719...89,557,766
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 IAGP ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:31260566 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar
OMIM
PMID:2712793, PMID:11326272, PMID:11326338, PMID:19449425, PMID:20358596, PMID:26467025, PMID:28492532, PMID:30311386, PMID:11326272 RGD:734571 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
JBrowse link
G LOC100130744 uncharacterized LOC100130744 IAGP ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar PMID:2712793, PMID:11326272, PMID:11326338, PMID:19449425, PMID:20358596, PMID:28492532 NCBI chr 5:14,712,694...14,716,529 JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP 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 chr 5:14,660,794...14,716,552
Ensembl chr 5:14,664,664...14,699,850
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C IAGP
ISO
DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B
ClinVar Annotator: match by term: 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)
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:10080180, PMID:17446932, PMID:17701980, PMID:10814726 RGD:12791020, RGD:2306094, RGD:12791273, RGD:11062274 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
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 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 6:151,654,148...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP 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 chr 6:152,121,684...152,637,395
Ensembl chr 6:152,121,684...152,637,801
JBrowse link
G SYNE1-AS1 SYNE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 6:152,380,530...152,381,713
Ensembl chr 6:152,380,546...152,381,564
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP 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 chr14:63,761,904...64,226,449
Ensembl chr14:63,761,899...64,226,433
Ensembl chr14:63,761,899...64,226,433
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 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant ClinVar
OMIM
PMID:21391237, PMID:21636032, PMID:23812740, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:14,125,006...14,143,680
Ensembl chr 3:14,124,940...14,143,679
Ensembl chr 3:14,124,940...14,143,679
JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Myosin storage myopathy
ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
ClinVar PMID:15358028, PMID:15556047, PMID:15757018, PMID:17125710, PMID:18414213, PMID:19150014, PMID:21127202, PMID:22765922, PMID:22958901, PMID:23074333, PMID:23299917, PMID:23794396, PMID:24033266, PMID:24093860, PMID:24793961, PMID:25342278, PMID:25637381, PMID:25741868, PMID:27247418, PMID:28356264, PMID:28492532, PMID:29300372, PMID:30311386, PMID:30871747 NCBI chr14:23,415,450...23,417,595 JBrowse link
G MYH7 myosin heavy chain 7 IAGP DNA:missense mutation: :p.R1845W (23014C>T) (human)
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
ClinVar
OMIM
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 chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1E ClinVar
OMIM
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 7:157,337,004...157,417,439
Ensembl chr 7:157,335,381...157,417,439
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F ClinVar
OMIM
PMID:11222786, PMID:23543484, PMID:23667635, PMID:25741868, PMID:28492532 NCBI chr 7:128,954,185...129,055,111
Ensembl chr 7:128,954,180...129,055,173
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G ClinVar
OMIM
PMID:15367920, PMID:24647604, PMID:25741868, PMID:28492532 NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,564...82,430,408
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 IAGP 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 chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
Ensembl chr15:42,359,498...42,412,949
JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I IAGP 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 chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
ClinVar
OMIM
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 chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ClinVar PMID:25741868 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A4 solute carrier family 25 member 4 IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ClinVar
OMIM
PMID:8644740, PMID:10364542, PMID:10926541, PMID:11756613, PMID:12112115, PMID:25741868, PMID:28492532 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
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 IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 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 chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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 IAGP 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 chr17:64,449,006...64,496,469
Ensembl chr17:64,449,037...64,468,643
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ClinVar
OMIM
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 chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5
ClinVar
OMIM
PMID:19664747, PMID:21646632, PMID:26467025, PMID:28492532, PMID:28812649 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
Ensembl chr 8:102,204,502...102,238,961
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 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 ClinVar
OMIM
PMID:23352259, PMID:25741868 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121
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 IAGP
EXP
ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive
ClinVar Annotator: match by term: Autosomal recessive centronuclear myopathy
CTD Direct Evidence: marker/mechanism
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 chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
JBrowse link
G LOC112806045 Sharpr-MPRA regulatory region 572 IAGP ClinVar Annotator: match by term: Autosomal recessive centronuclear myopathy ClinVar PMID:28492532 NCBI chr 2:127,064,773...127,065,067 JBrowse link
G SPEG striated muscle enriched protein kinase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:219,434,215...219,493,629
Ensembl chr 2:219,434,843...219,493,629
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 IAGP ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive type ClinVar
OMIM
PMID:11146471, PMID:23951358, PMID:25741868 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Emery-dreifuss muscular dystrophy, atypical, autosomal recessive
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 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
autosomal recessive hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH7 myosin heavy chain 7 IAGP 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 chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
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 IAGP 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 chr11:22,192,485...22,283,357
Ensembl chr11:21,799,934...22,283,357
JBrowse link
G ASTN2 astrotactin 2 IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 9:116,423,112...117,415,057
Ensembl chr 9:116,425,225...117,415,070
JBrowse link
G CAPN3 calpain 3 IAGP 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 chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
Ensembl chr15:42,359,498...42,412,949
JBrowse link
G CAV3 caveolin 3 IAGP 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 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
G DYSF dysferlin IAGP 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 2:71,453,154...71,686,763
Ensembl chr 2:71,453,722...71,686,768
JBrowse link
G FKRP fukutin related protein IAGP 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 chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G LMNA lamin A/C IAGP 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 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP 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 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:23757202, PMID:24033266, PMID:25741868 NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,902...131,523,806
JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP 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 chr14:77,274,956...77,320,885
Ensembl chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
JBrowse link
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr13:23,328,827...23,433,728
Ensembl chr13:23,328,826...23,433,740
JBrowse link
G SGCA sarcoglycan alpha IAGP 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 chr17:50,165,517...50,175,928
Ensembl chr17:50,164,214...50,175,928
JBrowse link
G SGCB sarcoglycan beta IAGP 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 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,482
Ensembl chr 4:52,020,706...52,038,482
JBrowse link
G SGCD sarcoglycan delta IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:10974018, PMID:12794684, PMID:18414213, PMID:23861362, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26968544, PMID:28401079, PMID:28492532 NCBI chr 5:155,728,636...156,767,788
Ensembl chr 5:155,870,344...156,767,788
JBrowse link
G SGCG sarcoglycan gamma IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
Ensembl chr13:23,180,979...23,325,162
JBrowse link
G TRIM32 tripartite motif containing 32 IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,302...116,701,300
JBrowse link
G TSPAN1 tetraspanin 1 IAGP 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 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:22335739, PMID:22526018, PMID:23396983, PMID:23861362, PMID:23975875, PMID:24033266, PMID:24503780, PMID:24892279, PMID:25163546, PMID:25589632, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28822653 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive
ClinVar PMID:23861362, PMID:23975875, PMID:24033266, PMID:24503780, PMID:24892279, PMID:25589632, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28822653 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA2 laminin subunit alpha 2 IAGP 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 chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
JBrowse link
G TRAPPC11 trafficking protein particle complex 11 IAGP 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 4:183,659,277...183,713,592
Ensembl chr 4:183,659,267...183,713,594
JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 ClinVar
OMIM
PMID:25741868, PMID:27066570 NCBI chr 3:43,079,229...43,106,085
Ensembl chr 3:43,079,232...43,106,079
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 BVES-AS1 BVES antisense RNA 1 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 ClinVar PMID:31610034 NCBI chr 6:105,137,687...105,169,945
Ensembl chr 6:105,136,308...105,169,952
JBrowse link
G POPDC3 popeye domain containing 3 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 OMIM
ClinVar
PMID:31610034 NCBI chr 6:105,157,900...105,180,014
Ensembl chr 6:105,157,900...105,180,014
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
IAGP
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
ClinVar
OMIM
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 chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
Ensembl chr15:42,359,498...42,412,949
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A ClinVar PMID:25326637, PMID:25741868 NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
Ensembl chr 3:30,606,601...30,694,142
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 IAGP ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868, PMID:31263448 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
Ensembl chr15:42,359,498...42,412,949
JBrowse link
G DYSF dysferlin IAGP
EXP
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
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 2:71,453,154...71,686,763
Ensembl chr 2:71,453,722...71,686,768
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868, PMID:31263448 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 ClinVar PMID:24033266, PMID:25741868, PMID:27854218, PMID:28492532, PMID:29300372 NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G VDR vitamin D receptor IEP protein:increased expression:muscle: RGD PMID:27558075 RGD:13210781 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SACS sacsin molecular chaperone IAGP 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 chr13:23,328,827...23,433,728
Ensembl chr13:23,328,826...23,433,740
JBrowse link
G SGCG sarcoglycan gamma IAGP 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
DNA:mutation:cds: c.787G>A (p.Glu263Lys)(human)
ClinVar
OMIM
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 chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
Ensembl chr13:23,180,979...23,325,162
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 IDA protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
JBrowse link
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr13:23,328,827...23,433,728
Ensembl chr13:23,328,826...23,433,740
JBrowse link
G SGCA sarcoglycan alpha treatment IAGP
IDA
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2D
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
OMIM
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 chr17:50,165,517...50,175,928
Ensembl chr17:50,164,214...50,175,928
JBrowse link
G SGCG sarcoglycan gamma IAGP ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
Ensembl chr13:23,180,979...23,325,162
JBrowse link
G TUBA1A tubulin alpha 1a IAGP ClinVar Annotator: match by term: ADHALINOPATHY, PRIMARY ClinVar PMID:18414213, PMID:18728072, PMID:20466733, PMID:25741868, PMID:30744660 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,795...49,189,080
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SGCB sarcoglycan beta treatment IAGP
IDA
ISO
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2E
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E
ClinVar Annotator: match by term: Beta-sarcoglycanopathy
ClinVar
OMIM
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 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,482
Ensembl chr 4:52,020,706...52,038,482
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 IAGP
EXP
ClinVar Annotator: match by term: Delta-sarcoglycanopathy
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F
ClinVar Annotator: match by term: Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2F
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2f, digenic
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscular dystrophy, limb girdle 2F
ClinVar
CTD
OMIM
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 chr 5:155,728,636...156,767,788
Ensembl chr 5:155,870,344...156,767,788
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2G
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2G
ClinVar
OMIM
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 chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554
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 IAGP 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 9:116,423,112...117,415,057
Ensembl chr 9:116,425,225...117,415,070
JBrowse link
G TRIM32 tripartite motif containing 32 IAGP ClinVar Annotator: match by term: Sarcotubular myopathy OMIM
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 9:116,687,305...116,701,299
Ensembl chr 9:116,687,302...116,701,300
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 IAGP
IMP
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
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
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 chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G STRN4 striatin 4 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED ClinVar PMID:25741868 NCBI chr19:46,719,509...46,746,475
Ensembl chr19:46,719,511...46,746,994
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
ClinVar
OMIM
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 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
ClinVar PMID:18414213, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24082139, PMID:24503780, PMID:25163546, PMID:25589632, PMID:25741868, PMID:26467025, PMID:26516846, PMID:28492532, PMID:29970176 NCBI chr 2:178,776,926...178,779,963
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J
ClinVar PMID:1745277, PMID:9804419, PMID:10462489, PMID:11717165, PMID:12145747, PMID:12669942, PMID:15802564, PMID:17344846, PMID:17444505, PMID:17976239, PMID:18414213, PMID:18948003, PMID:21520333, PMID:21617319, PMID:21810661, PMID:22335739, PMID:22820391, PMID:23299917, PMID:23396983, PMID:23418287, PMID:23486992, PMID:23518707, PMID:23675308, PMID:23757202, PMID:23861362, PMID:23975875, PMID:24033266, PMID:24055113, 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:25447171, PMID:25498755, PMID:25556389, PMID:25589632, PMID:25626705, PMID:25741868, PMID:25772186, PMID:25783436, PMID:25979592, PMID:26084686, PMID:26272908, PMID:26383259, PMID:26392295, PMID:26467025, PMID:26498160, PMID:26516846, PMID:26559152, PMID:26627873, PMID:26718681, PMID:26777568, PMID:27040692, PMID:27066507, PMID:27194543, PMID:27532257, PMID:27588451, PMID:27650965, PMID:27788187, PMID:27854218, PMID:27854229, 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:29099038, PMID:29221435, PMID:29361395, PMID:29386531, PMID:29540445, PMID:29691892, PMID:30311386, PMID:30371277, PMID:30535219, PMID:30615648, PMID:30993396 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:130,713,881...130,887,675
Ensembl chr 9:130,713,016...130,887,675
JBrowse link
G AIF1L allograft inflammatory factor 1 like IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,096,531...131,123,144
Ensembl chr 9:131,096,476...131,123,152
JBrowse link
G EXOSC2 exosome component 2 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,704,894
JBrowse link
G FAM78A family with sequence similarity 78 member A IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,258,078...131,281,928
Ensembl chr 9:131,258,076...131,276,510
JBrowse link
G FIBCD1 fibrinogen C domain containing 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:130,902,440...130,939,247
Ensembl chr 9:130,902,438...130,939,286
JBrowse link
G FKRP fukutin related protein IAGP 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 chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G LAMC3 laminin subunit gamma 3 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,009,174...131,094,473
Ensembl chr 9:131,009,174...131,094,473
JBrowse link
G NUP214 nucleoporin 214 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,586...131,234,663
JBrowse link
G PLPP7 phospholipid phosphatase 7 (inactive) IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,289,694...131,309,261
Ensembl chr 9:131,289,459...131,359,022
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 11
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED
ClinVar
OMIM
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 9:131,502,902...131,523,803
Ensembl chr 9:131,502,902...131,523,806
JBrowse link
G PRDM12 PR/SET domain 12 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:130,664,594...130,682,983
Ensembl chr 9:130,664,594...130,682,986
Ensembl chr 9:130,664,594...130,682,986
JBrowse link
G PRRC2B proline rich coiled-coil 2B IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:131,373,651...131,500,193
Ensembl chr 9:131,373,636...131,500,197
JBrowse link
G QRFP pyroglutamylated RFamide peptide IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 ClinVar PMID:28492532 NCBI chr 9:130,892,707...130,896,812
Ensembl chr 9:130,892,707...130,896,812
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 IAGP DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L
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)
ClinVar
OMIM
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:23606453, PMID:22742934, PMID:20096397 RGD:11066746, RGD:11570561, RGD:11570558 NCBI chr11:22,192,485...22,283,357
Ensembl chr11:21,799,934...22,283,357
JBrowse link
G FBN2 fibrillin 2 IAGP 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 chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
G FKTN fukutin IAGP DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human) RGD PMID:17044012 RGD:11576328 NCBI chr 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
Ensembl chr 9:105,558,122...105,653,820
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 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
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
OMIM
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 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLG DNA polymerase gamma, catalytic subunit IAGP 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 chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED
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
OMIM
PMID:17878207, PMID:17923109, PMID:18414213, PMID:18513969, PMID:19299310, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27854218, PMID:28492532, PMID:30060766 NCBI chr14:77,274,956...77,320,885
Ensembl chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP 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
OMIM
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 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G TSPAN1 tetraspanin 1 IAGP 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 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMT aminomethyltransferase IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 3:49,416,778...49,422,473
Ensembl chr 3:49,416,778...49,422,685
Ensembl chr 3:49,416,778...49,422,685
JBrowse link
G C3orf62 chromosome 3 open reading frame 62 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 3:49,268,596...49,277,232
Ensembl chr 3:49,268,596...49,277,232
JBrowse link
G C3orf84 chromosome 3 open reading frame 84 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 3:49,177,539...49,192,684
Ensembl chr 3:49,177,634...49,191,858
JBrowse link
G CCDC71 coiled-coil domain containing 71 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 3:49,162,535...49,166,331
Ensembl chr 3:49,162,535...49,166,331
JBrowse link
G DAG1 dystroglycan 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar
OMIM
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 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
JBrowse link
G GPX1 glutathione peroxidase 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,358
JBrowse link
G IHO1 interactor of HORMAD1 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 3:49,198,428...49,258,106
Ensembl chr 3:49,198,428...49,258,106
JBrowse link
G KLHDC8B kelch domain containing 8B IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 3:49,171,120...49,176,487
Ensembl chr 3:49,171,598...49,176,486
JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 3:49,121,114...49,133,066
Ensembl chr 3:49,121,114...49,133,118
JBrowse link
G NICN1 nicolin 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 3:49,422,333...49,429,324
Ensembl chr 3:49,422,946...49,429,326
Ensembl chr 3:49,422,946...49,429,326
JBrowse link
G RHOA ras homolog family member A IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,145...49,412,998
JBrowse link
G TCTA T cell leukemia translocation altered IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 3:49,412,206...49,416,476
Ensembl chr 3:49,412,206...49,416,475
JBrowse link
G USP4 ubiquitin specific peptidase 4 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 3:49,277,144...49,340,053
Ensembl chr 3:49,277,144...49,340,712
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2Q ClinVar
OMIM
PMID:21109228, PMID:25741868, PMID:28492532, PMID:30311386, PMID:31319225 NCBI chr 8:143,915,153...143,976,800
Ensembl chr 8:143,915,147...143,976,734
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2S
ClinVar Annotator: match by term: Autosomal recessive limb girdle muscular dystrophy type 2S
ClinVar
OMIM
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 4:183,659,277...183,713,592
Ensembl chr 4:183,659,267...183,713,594
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C14
ClinVar
OMIM
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 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,951
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 IAGP 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 chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
Ensembl chr 7:16,087,525...16,502,504
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W ClinVar PMID:28492532 NCBI chr 2:127,646,153...127,652,639
Ensembl chr 2:127,645,864...127,652,639
JBrowse link
G LIMS2 LIM zinc finger domain containing 2 IAGP 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 chr 2:127,638,421...127,681,786
Ensembl chr 2:127,638,381...127,681,786
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2X ClinVar
OMIM
PMID:25741868, PMID:26642364, PMID:31119192 NCBI chr 6:105,096,822...105,137,157
Ensembl chr 6:105,096,822...105,137,157
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 LOC112577517 Sharpr-MPRA regulatory region 13766 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y ClinVar PMID:24856141, PMID:25193337, PMID:28492532 NCBI chr 1:179,882,554...179,882,848 JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 IAGP 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 1:179,882,285...179,920,076
Ensembl chr 1:179,882,042...179,925,000
JBrowse link
G TOR1AIP2 torsin 1A interacting protein 2 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y ClinVar PMID:24856141, PMID:25193337 NCBI chr 1:179,839,976...179,877,803
Ensembl chr 1:179,839,967...179,877,803
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2z ClinVar
OMIM
PMID:27807076 NCBI chr 3:119,468,955...119,494,708
Ensembl chr 3:119,468,963...119,494,708
JBrowse link
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I IAGP 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 chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP 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 chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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 IAGP ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 ClinVar
OMIM
PMID:26094573 NCBI chr 2:3,531,813...3,558,367
Ensembl chr 2:3,541,430...3,558,333
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 IAGP 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 chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544
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 IAGP 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 2:73,926,827...73,958,961
Ensembl chr 2:73,926,826...73,958,961
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOP3A DNA topoisomerase III alpha IAGP ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 ClinVar
OMIM
PMID:25741868, PMID:29290614 NCBI chr17:18,269,958...18,314,996
Ensembl chr17:18,271,428...18,315,007
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G HMGN2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 1:26,472,440...26,476,642
Ensembl chr 1:26,472,440...26,476,642
JBrowse link
G PAX6 paired box 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PITX2 paired like homeodomain 2 IAGP
EXP
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PRDM5 PR/SET domain 5 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:120,684,906...120,922,849
Ensembl chr 4:120,684,919...120,922,870
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 IAGP ClinVar Annotator: match by term: Axial myopathy, late-onset ClinVar PMID:24033266, PMID:28492532 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
Becker muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin IAGP 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
ClinVar Annotator: match by term: Muscular dystrophy, Becker
ClinVar
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:31,119,219...33,339,460
Ensembl chr  X:31,097,677...33,339,441
JBrowse link
G PKP2 plakophilin 2 IAGP 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 chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,840
Ensembl chr12:32,790,745...32,896,840
JBrowse link
G SNTA1 syntrophin alpha 1 IAGP ClinVar Annotator: match by term: Becker muscular dystrophy ClinVar PMID:25741868 NCBI chr20:33,407,957...33,443,853
Ensembl chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763
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 IAGP 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:31,119,219...33,339,460
Ensembl chr  X:31,097,677...33,339,441
JBrowse link
G PKP2 plakophilin 2 IAGP 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 chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,840
Ensembl chr12:32,790,745...32,896,840
JBrowse link
G SNTA1 syntrophin alpha 1 IAGP ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:25741868 NCBI chr20:33,407,957...33,443,853
Ensembl chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763
JBrowse link
Bethlem myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:75,084,326...75,206,262
Ensembl chr 6:75,084,326...75,206,053
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP
EXP
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 chr21:45,981,770...46,005,048
Ensembl chr21:45,981,769...46,005,050
Ensembl chr21:45,981,769...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP
EXP
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Bethlem 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 chr21:46,098,071...46,132,849
Ensembl chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP
EXP
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
CTD Direct Evidence: marker/mechanism
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 2:237,324,018...237,434,822
Ensembl chr 2:237,324,003...237,414,207
Ensembl chr 2:237,324,003...237,414,207
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:18414213, PMID:24801232, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr21:46,135,981...46,156,482
Ensembl chr21:46,136,262...46,155,579
JBrowse link
Bethlem Myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC105760.1 novel transcript IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:237,048,599...237,056,167
Ensembl chr 2:237,048,599...237,056,167
JBrowse link
G ACKR3 atypical chemokine receptor 3 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:236,537,131...236,582,358
Ensembl chr 2:236,567,787...236,582,354
JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707, PMID:25741868 NCBI chr  X:49,922,596...50,099,231
Ensembl chr  X:49,922,596...50,099,235
JBrowse link
G COL6A1 collagen type VI alpha 1 chain susceptibility IAGP 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 chr21:45,981,770...46,005,048
Ensembl chr21:45,981,769...46,005,050
Ensembl chr21:45,981,769...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain susceptibility IAGP 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 chr21:46,098,071...46,132,849
Ensembl chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP 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 2:237,324,018...237,434,822
Ensembl chr 2:237,324,003...237,414,207
Ensembl chr 2:237,324,003...237,414,207
JBrowse link
G COPS8 COP9 signalosome subunit 8 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:237,085,889...237,100,474
Ensembl chr 2:237,085,882...237,100,474
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:24801232, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr21:46,135,981...46,156,482
Ensembl chr21:46,136,262...46,155,579
JBrowse link
G LOC110121230 VISTA enhancer hs1951 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:237,313,177...237,316,630 JBrowse link
G LOC112840913 Sharpr-MPRA regulatory region 9900 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:236,968,106...236,968,400 JBrowse link
Bethlem Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain IAGP ClinVar Annotator: match by term: Bethlem myopathy 2 ClinVar
OMIM
PMID:24334604, PMID:24334769, PMID:25741868, PMID:28492532 NCBI chr 6:75,084,326...75,206,262
Ensembl chr 6:75,084,326...75,206,053
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 IAGP ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness ClinVar
OMIM
PMID:18834968, PMID:25741868, PMID:28492532 NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420
JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3-3A H3.3 histone A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,073,212
Ensembl chr 1:226,061,851...226,073,212
JBrowse link
Brody myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 IAGP ClinVar Annotator: match by term: Brody myopathy ClinVar
OMIM
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 chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,509
Ensembl chr16:28,878,405...28,904,509
JBrowse link
G ATP2A1-AS1 ATP2A1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193, PMID:17882224, PMID:24707176, PMID:26467025, PMID:28492532 NCBI chr16:28,878,957...28,879,921
Ensembl chr16:28,878,957...28,879,920
JBrowse link
G ATXN2L ataxin 2 like IAGP ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224, PMID:24707176, PMID:28492532 NCBI chr16:28,823,048...28,837,237
Ensembl chr16:28,823,035...28,837,237
JBrowse link
G LOC112340393 Sharpr-MPRA regulatory region 4004 IAGP ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224, PMID:24707176, PMID:28492532 NCBI chr16:28,863,268...28,863,562 JBrowse link
G MIR4721 microRNA 4721 IAGP ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224, PMID:24707176, PMID:28492532 NCBI chr16:28,843,919...28,844,007
Ensembl chr16:28,843,919...28,844,007
JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 IAGP ClinVar Annotator: match by term: Brody myopathy ClinVar NCBI chr16:28,904,421...28,925,238
Ensembl chr16:28,904,421...28,936,526
JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224, PMID:24707176, PMID:28492532 NCBI chr16:28,846,606...28,874,213
Ensembl chr16:28,846,600...28,874,212
JBrowse link
G TUFM Tu translation elongation factor, mitochondrial IAGP ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224, PMID:24707176, PMID:28492532 NCBI chr16:28,842,411...28,846,348
Ensembl chr16:28,842,411...28,846,348
JBrowse link
Bruck syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKBP10 FKBP prolyl isomerase 10 IEA
IAGP
OMIM:259450 | OMIM:609220
ClinVar Annotator: match by term: Bruck Syndrome
MouseDO
ClinVar
PMID:25741868 NCBI chr17:41,812,938...41,823,215
Ensembl chr17:41,812,680...41,823,213
Ensembl chr17:41,812,680...41,823,213
JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IEA OMIM:259450 | OMIM:609220 MouseDO NCBI chr 3:146,069,437...146,161,184
Ensembl chr 3:146,069,440...146,163,653
JBrowse link
Bruck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKBP10 FKBP prolyl isomerase 10 IAGP ClinVar Annotator: match by term: Bruck syndrome 1
ClinVar Annotator: match by term: Kuskokwim disease
ClinVar
OMIM
PMID:9129737, PMID:9481655, PMID:9927692, PMID:20362275, PMID:20696291, PMID:20839288, PMID:21567934, PMID:22949511, PMID:23712425, PMID:25741868 NCBI chr17:41,812,938...41,823,215
Ensembl chr17:41,812,680...41,823,213
Ensembl chr17:41,812,680...41,823,213
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 IAGP ClinVar Annotator: match by term: Bruck syndrome 2 ClinVar
OMIM
PMID:9927692, PMID:12881513, PMID:15523624, PMID:22689593, PMID:25086671, PMID:25741868, PMID:28492532, PMID:29178448 NCBI chr 3:146,069,437...146,161,184
Ensembl chr 3:146,069,440...146,163,653
JBrowse link
Camptocormia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH7 myosin heavy chain 7 IAGP 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 chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP 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 chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:17486094, PMID:21378381 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
Ensembl chr 8:102,204,502...102,238,961
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 IAGP 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 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP 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 chr 5:218,309...264,816
Ensembl chr 5:218,241...257,082
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP 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 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP 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 1:161,314,381...161,375,340
Ensembl chr 1:161,314,257...161,375,340
Ensembl chr 1:161,314,257...161,375,340
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 IAGP ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness ClinVar
OMIM
PMID:22422768, PMID:24033266, PMID:25326635, PMID:25741868, PMID:25922419, PMID:26200674, PMID:28492532 NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,093
JBrowse link
central core myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
JBrowse link
G ATP13A4 ATPase 13A4 IAGP ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr 3:193,398,967...193,593,114
Ensembl chr 3:193,398,967...193,593,111
JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein IAGP ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr 8:1,755,778...1,786,570
Ensembl chr 8:1,755,778...1,801,711
JBrowse link
G CRX cone-rod homeobox IAGP ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:11139241, PMID:16123401, PMID:17964524, PMID:23049240, PMID:25741868, PMID:28492532 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin IAGP ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr16:3,242,027...3,256,776
Ensembl chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 IAGP ClinVar Annotator: match by term: Shy-Magee syndrome ClinVar PMID:18414213, PMID:21990111, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:40,071,461...40,097,252
Ensembl chr 1:40,072,710...40,097,260
Ensembl chr 1:40,072,710...40,097,260
JBrowse link
G RYR1 ryanodine receptor 1 IAGP
EXP
ClinVar Annotator: match by term: Myopathy, Central Core
ClinVar Annotator: match by term: Central core myopathy
ClinVar Annotator: match by term: Shy-Magee syndrome
ClinVar Annotator: match by term: Central core disease
ClinVar Annotator: match by term: Congenital myopathy with cores
ClinVar Annotator: match by term: Central core disease, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM2 dynamin 2 IAGP
ISS
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 chr19:10,718,079...10,831,903
Ensembl chr19:10,718,079...10,833,488
JBrowse link
G KLHL31 kelch like family member 31 ISS OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 MouseDO NCBI chr 6:53,647,916...53,665,854
Ensembl chr 6:53,647,916...53,665,756
JBrowse link
G MTM1 myotubularin 1 IAGP
ISS
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:150,562,658...150,673,143
Ensembl chr  X:150,568,619...150,673,322
Ensembl chr  X:150,568,619...150,673,322
JBrowse link
G PLN phospholamban ISS OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 MouseDO NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Myotubular myopathy
ClinVar Annotator: match by term: Centronuclear myopathy
ClinVar PMID:22473935, PMID:25741868, PMID:28492532 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
G TTN titin IAGP 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 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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 IAGP ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant
ClinVar Annotator: match by term: Myopathy, centronuclear, 1
ClinVar
OMIM
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 chr19:10,718,079...10,831,903
Ensembl chr19:10,718,079...10,833,488
JBrowse link
G MTM1 myotubularin 1 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:25741868 NCBI chr  X:150,562,658...150,673,143
Ensembl chr  X:150,568,619...150,673,322
Ensembl chr  X:150,568,619...150,673,322
JBrowse link
G MTMR14 myotubularin related protein 14 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 1 OMIM
ClinVar
PMID:17008356, PMID:25741868 NCBI chr 3:9,649,465...9,702,393
Ensembl chr 3:9,649,433...9,702,393
JBrowse link
G MYF6 myogenic factor 6 IAGP 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 chr12:80,707,634...80,709,474
Ensembl chr12:80,707,634...80,709,474
JBrowse link
G MYOD1 myogenic differentiation 1 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:31260566 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
JBrowse link
G OTOGL otogelin like IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr12:80,099,537...80,380,880
Ensembl chr12:80,099,537...80,380,879
JBrowse link
G PPP1R12A protein phosphatase 1 regulatory subunit 12A IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr12:79,773,563...79,935,460
Ensembl chr12:79,773,563...79,935,460
JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr12:80,424,261...80,680,273
Ensembl chr12:80,402,178...80,680,273
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 IAGP OMIM NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
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 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 4 ClinVar
OMIM
PMID:18414213, PMID:22818856, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr16:722,578...726,880
Ensembl chr16:722,582...726,954
JBrowse link
centronuclear myopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASIC4-AS1 ASIC4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:25087613, PMID:25741868, PMID:28492532 NCBI chr 2:219,481,732...219,517,086 JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10655546, PMID:11774072, PMID:11980847, PMID:14507861, PMID:16688110, PMID:16735991, PMID:16735994, PMID:17563717, PMID:17591938, PMID:17718864, PMID:18622259, PMID:19204079, PMID:19236111, PMID:19536304, PMID:19597567, PMID:19643970, PMID:19744731, PMID:19793111, PMID:21081970, PMID:21168818, PMID:23028769, PMID:24033266, PMID:24123366, PMID:24281366, PMID:25091052, PMID:25333069, PMID:25741868, PMID:25978063, PMID:27408750, PMID:27508083, PMID:27535533, PMID:28384041, PMID:28492532, PMID:28620713, PMID:29556725, PMID:30311386 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G NF1 neurofibromin 1 IAGP 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 chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G SPEG striated muscle enriched protein kinase IAGP ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar
OMIM
PMID:25087613, PMID:25741868, PMID:28492532 NCBI chr 2:219,434,215...219,493,629
Ensembl chr 2:219,434,843...219,493,629
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 IAGP ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION ClinVar
OMIM
PMID:16760198, PMID:27816943 NCBI chr 2:173,075,435...173,268,015
Ensembl chr 2:173,075,435...173,268,015
JBrowse link