RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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MCCC1 |
methylcrotonoyl-CoA carboxylase 1 |
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ISO |
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OMIM |
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NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
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MCCC2 |
methylcrotonoyl-CoA carboxylase 2 |
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ISO |
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OMIM |
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NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
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MCCC1 |
methylcrotonoyl-CoA carboxylase 1 |
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ISO |
ClinVar Annotator: match by term: 3-MCC Deficiency ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency |
ClinVar |
PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15359379 PMID:15868465 PMID:16010683 PMID:16835865 PMID:22264772 PMID:22642865 PMID:24033266 PMID:25356967 PMID:25382614 PMID:25741868 PMID:26566957 PMID:27601257 PMID:28492532 |
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NCBI chr 3:180,045,592...180,129,988
Ensembl chr 3:188,217,186...188,300,284
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MCCC2 |
methylcrotonoyl-CoA carboxylase 2 |
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ISO |
ClinVar Annotator: match by term: 3-MCC Deficiency ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency |
ClinVar |
PMID:11181649 PMID:16010683 PMID:16835865 PMID:17908719 PMID:20818363 PMID:20818383 PMID:21071250 PMID:22264772 PMID:22642865 PMID:25087612 PMID:25356967 PMID:25741868 PMID:26764160 PMID:27601257 PMID:28492532 |
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NCBI chr 5:43,650,993...43,724,877
Ensembl chr 5:44,298,650...44,369,106
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ACTA1 |
actin alpha 1, skeletal muscle |
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ISO |
ClinVar Annotator: match by term: Congenital myopathy with excess of thin filaments |
ClinVar |
PMID:9185179 PMID:10508519 PMID:10528865 PMID:11333380 PMID:11525890 PMID:12921789 PMID:15226407 PMID:15236405 PMID:15468086 PMID:16427282 PMID:16945536 PMID:17227580 PMID:17387733 PMID:17705262 PMID:18059071 PMID:18414213 PMID:19206168 PMID:19553121 PMID:19562689 PMID:20303757 PMID:20621480 PMID:21514153 PMID:21520333 PMID:22442437 PMID:22825594 PMID:23102861 PMID:23294764 PMID:23394784 PMID:23650303 PMID:24033266 PMID:24356988 PMID:24642510 PMID:24787270 PMID:24852243 PMID:25182138 PMID:25214167 PMID:25326635 PMID:25470062 PMID:25525159 PMID:25635128 PMID:25741868 PMID:26172852 PMID:26436962 PMID:26467025 PMID:27447704 PMID:27854218 PMID:28256728 PMID:28357410 PMID:28416349 PMID:28492532 PMID:29274205 PMID:29792937 PMID:30253894 PMID:30354303 |
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NCBI chr 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469
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LPIN1 |
lipin 1 |
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ISO |
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OMIM |
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NCBI chr2A:11,664,727...11,815,497
Ensembl chr2A:11,857,961...11,961,551
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APC |
APC regulator of WNT signaling pathway |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11816139 |
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NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
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CCN2 |
cellular communication network factor 2 |
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ISO |
mRNA:increased expression:tumor (human) |
RGD |
PMID:19366727 |
RGD:2314525 |
NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
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SERPINE1 |
serpin family E member 1 |
susceptibility |
ISO |
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) |
RGD |
PMID:17160433 |
RGD:13208596 |
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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TNF |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19944662 |
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NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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LARP7 |
La ribonucleoprotein 7, transcriptional regulator |
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ISO |
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OMIM |
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NCBI chr 4:105,128,335...105,149,498
Ensembl chr 4:115,698,093...115,711,003
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ATP2A1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
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ISO |
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RGD |
PMID:14506614 |
RGD:1581765 |
Ensembl chr16:29,265,516...29,290,807
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SLC16A2 |
solute carrier family 16 member 2 |
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ISO |
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OMIM |
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NCBI chr X:63,673,992...63,787,011
Ensembl chr X:73,791,200...73,903,727
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AQP4 |
aquaporin 4 |
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ISO |
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RGD |
PMID:20680636 |
RGD:5148026 |
NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
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EDAR |
ectodysplasin A receptor |
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ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 |
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NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398
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FANCI |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type) ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 |
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NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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POLG |
DNA polymerase gamma, catalytic subunit |
susceptibility |
ISO |
DNA:missense mutation:cds:p.P1073L (3218C>T) (human) |
OMIM RGD |
PMID:20142534 |
RGD:15039298 |
NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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RLBP1 |
retinaldehyde binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy |
ClinVar |
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NCBI chr15:67,901,276...67,913,911
Ensembl chr15:87,108,815...87,117,971
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APC |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma |
ClinVar |
PMID:11257105 PMID:16454848 PMID:18199528 PMID:21859464 PMID:24033266 PMID:25637381 PMID:25741868 PMID:26580448 PMID:27535533 PMID:28492532 PMID:28503720 |
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NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
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FOXO1 |
forkhead box O1 |
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OMIM |
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NCBI chr13:21,763,729...21,874,279
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PAX3 |
paired box 3 |
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OMIM |
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NCBI chr2B:109,441,938...109,541,449
Ensembl chr2B:228,022,453...228,121,874
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PAX7 |
paired box 7 |
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OMIM |
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NCBI chr 1:17,589,513...17,707,442
Ensembl chr 1:18,639,641...18,756,952
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TP73 |
tumor protein p73 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21245298 |
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NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
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WWTR1 |
WW domain containing transcription regulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31494105 |
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NCBI chr 3:146,536,564...146,678,847
Ensembl chr 3:154,114,034...154,254,490
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ASPSCR1 |
ASPSCR1 tether for SLC2A4, UBX domain containing |
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ISO |
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OMIM |
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NCBI chr17:76,381,000...76,422,189
Ensembl chr17:82,084,873...82,127,492
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MATR3 |
matrin 3 |
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ISO |
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OMIM |
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NCBI chr 5:134,664,893...134,702,566
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CREB1 |
cAMP responsive element binding protein 1 |
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ISO |
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OMIM |
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NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
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IL1B |
interleukin 1 beta |
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ISO |
ClinVar Annotator: match by term: Antisynthetase syndrome |
ClinVar |
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NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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RYR1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis |
ClinVar |
PMID:22526018 PMID:24195946 PMID:25741868 PMID:28492532 PMID:30611313 |
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NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
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LMNA |
lamin A/C |
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ISO |
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OMIM |
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NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
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ESR1 |
estrogen receptor 1 |
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ISO |
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
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SYNE1 |
spectrin repeat containing nuclear envelope protein 1 |
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ISO |
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OMIM |
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NCBI chr 6:149,936,306...150,454,822
Ensembl chr 6:154,627,904...155,144,076
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SYNE2 |
spectrin repeat containing nuclear envelope protein 2 |
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ISO |
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OMIM |
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NCBI chr14:44,438,851...44,807,710
Ensembl chr14:62,751,560...63,064,136
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TMEM43 |
transmembrane protein 43 |
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ISO |
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OMIM |
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NCBI chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587
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LOC100978529 |
myosin-7 |
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ISO |
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OMIM |
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NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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DNAJB6 |
DnaJ heat shock protein family (Hsp40) member B6 |
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ISO |
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OMIM |
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NCBI chr 7:148,952,823...149,034,578
Ensembl chr 7:160,646,321...160,726,447
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TNPO3 |
transportin 3 |
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ISO |
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OMIM |
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NCBI chr 7:120,906,238...121,008,216
Ensembl chr 7:133,430,490...133,531,774
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HNRNPDL |
heterogeneous nuclear ribonucleoprotein D like |
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ISO |
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OMIM |
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NCBI chr 4:41,771,512...41,777,135
Ensembl chr 4:47,621,973...47,628,885
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LOC100984344 |
calpain-3 |
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ISO |
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OMIM |
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NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820
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FANCI |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 |
ClinVar |
PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 |
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NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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POLG |
DNA polymerase gamma, catalytic subunit |
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ISO |
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OMIM |
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NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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TWNK |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 |
ClinVar |
PMID:25741868 |
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NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
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SLC25A4 |
solute carrier family 25 member 4 |
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ISO |
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OMIM |
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NCBI chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549
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TWNK |
twinkle mtDNA helicase |
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ISO |
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OMIM |
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NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
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MILR1 |
mast cell immunoglobulin like receptor 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 |
ClinVar |
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 |
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NCBI chr17:58,546,046...58,570,679
Ensembl chr17:63,638,549...63,663,193
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POLG2 |
DNA polymerase gamma 2, accessory subunit |
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ISO |
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OMIM |
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NCBI chr17:58,574,442...58,593,915
Ensembl chr17:63,667,246...63,686,503
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RRM2B |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
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OMIM |
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NCBI chr 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056
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DNA2 |
DNA replication helicase/nuclease 2 |
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ISO |
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OMIM |
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NCBI chr10:64,898,024...64,956,541
Ensembl chr10:67,207,261...67,264,257
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BIN1 |
bridging integrator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive centronuclear myopathy ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive |
CTD ClinVar |
PMID:17676042 PMID:18414213 PMID:20142620 PMID:22912834 PMID:22960267 PMID:24033266 PMID:24549043 PMID:24755653 PMID:25262827 PMID:25741868 PMID:26101835 PMID:26467025 PMID:28492532 PMID:29103045 PMID:29950440 |
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NCBI chr2B:33,168,767...33,228,075
Ensembl chr2B:127,716,550...127,775,378
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SPEG |
striated muscle enriched protein kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr2B:106,692,222...106,750,922
Ensembl chr2B:225,282,676...225,339,910
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LMNA |
lamin A/C |
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ISO |
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OMIM |
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NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
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LOC100978529 |
myosin-7 |
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ISO |
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OMIM |
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NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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ANO5 |
anoctamin 5 |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive |
ClinVar |
PMID:18414213 PMID:23606453 PMID:24022920 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31395899 |
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NCBI chr11:22,201,694...22,295,781
Ensembl chr11:22,112,482...22,206,637
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ASTN2 |
astrotactin 2 |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
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NCBI chr 9:87,558,337...88,538,570
Ensembl chr 9:115,912,657...116,890,931
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CAV3 |
caveolin 3 |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive |
ClinVar |
PMID:9536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 PMID:17060380 PMID:17210839 PMID:17275750 PMID:19380584 PMID:20472890 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26467025 PMID:26498160 PMID:27483260 PMID:27930701 PMID:28492532 PMID:29961767 PMID:30055862 |
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NCBI chr 3:8,684,829...8,697,731
Ensembl chr 3:8,928,069...8,940,942
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DYSF |
dysferlin |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:12796534 PMID:14678801 PMID:15469449 PMID:17512949 PMID:18832576 PMID:18853459 PMID:19493611 PMID:20535123 PMID:22213072 PMID:22297152 PMID:24033266 PMID:24239059 PMID:24438169 PMID:24838345 PMID:25741868 PMID:25868377 PMID:25987458 PMID:26077327 PMID:26290895 PMID:26467025 PMID:27666772 PMID:28492532 |
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NCBI chr2A:71,495,573...71,730,073
Ensembl chr2A:72,994,888...73,228,846
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FKRP |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive |
ClinVar |
PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532 |
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NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
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LMNA |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:12920062 PMID:15205219 PMID:15475483 PMID:15998779 PMID:17377071 PMID:18414213 PMID:18549403 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19638735 PMID:21465660 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24721642 PMID:25741868 PMID:26467025 PMID:26602028 PMID:27896052 PMID:28492532 PMID:28679633 PMID:28785654 |
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NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
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LOC100984344 |
calpain-3 |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:12461690 PMID:14578192 PMID:14981715 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17318636 PMID:18055493 PMID:18414213 PMID:18854868 PMID:18854869 PMID:19835634 PMID:20635405 PMID:21204801 PMID:21984748 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27142102 PMID:28492532 |
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NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820
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POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive |
ClinVar |
PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:23326386 PMID:23894383 PMID:25741868 PMID:26013959 PMID:28424332 PMID:28492532 PMID:28688748 |
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NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
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POMT1 |
protein O-mannosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:23757202 PMID:24033266 PMID:25741868 |
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NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
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G |
POMT2 |
protein O-mannosyltransferase 2 |
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ISO |
DNA:missense mutation:exon:p.T184M, (c.551C>T) (human) ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
RGD ClinVar |
PMID:17923109 |
RGD:11532762 |
NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
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SACS |
sacsin molecular chaperone |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 |
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NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
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SGCA |
sarcoglycan alpha |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive |
ClinVar |
PMID:9032047 PMID:9192266 PMID:9585331 PMID:12746421 PMID:17994539 PMID:18285821 PMID:18421900 PMID:18996010 PMID:22095924 PMID:24033266 PMID:25135358 PMID:25741868 PMID:26404900 PMID:26453141 PMID:28492532 |
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NCBI chr17:44,255,807...44,266,182
Ensembl chr17:49,130,332...49,141,188
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SGCB |
sarcoglycan beta |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:7581449 PMID:9032047 PMID:10993494 PMID:15032976 PMID:15938573 PMID:19770540 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 4:71,924,051...71,942,642
Ensembl chr 4:78,476,969...78,491,156
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SGCD |
sarcoglycan delta |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:10974018 PMID:12794684 PMID:18414213 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26968544 PMID:28401079 PMID:28492532 |
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NCBI chr 5:151,131,909...152,164,077
Ensembl chr 5:157,719,540...158,139,633
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SGCG |
sarcoglycan gamma |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr13:4,471,680...4,638,419
Ensembl chr13:22,810,771...22,932,350
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G |
TRIM32 |
tripartite motif containing 32 |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive |
ClinVar |
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NCBI chr 9:87,819,723...87,838,684
Ensembl chr 9:116,183,746...116,185,707
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G |
TSPAN1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive |
ClinVar |
PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:22554691 PMID:23326386 PMID:23894383 PMID:25741868 PMID:26013959 PMID:28424332 PMID:28492532 PMID:28688748 |
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NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
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G |
TTN |
titin |
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ISO |
ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar Annotator: match by term: Limb-girdle muscular dystrophy autosomal recessive |
ClinVar |
PMID:22335739 PMID:22526018 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24503780 PMID:24892279 PMID:25163546 PMID:25589632 PMID:25741868 PMID:26467025 PMID:27066507 PMID:28492532 PMID:28822653 |
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NCBI chr2B:65,783,512...66,064,618
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LAMA2 |
laminin subunit alpha 2 |
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ISO |
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OMIM |
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NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337
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TRAPPC11 |
trafficking protein particle complex 11 |
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ISO |
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 |
ClinVar |
PMID:23830518 PMID:25741868 PMID:28492532 PMID:29158550 PMID:31575891 |
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NCBI chr 4:175,836,327...175,890,641
Ensembl chr 4:188,062,815...188,116,535
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G |
POMGNT2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
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ISO |
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OMIM |
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NCBI chr 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557
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POPDC3 |
popeye domain containing 3 |
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ISO |
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OMIM |
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NCBI chr 6:102,972,263...102,993,986
Ensembl chr 6:106,846,329...106,850,599
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G |
CBS |
cystathionine beta-synthase |
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ISO |
ClinVar Annotator: match by term: Calpainopathy |
ClinVar |
PMID:25326637 |
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NCBI chr21:29,361,519...29,385,610
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G |
FANCA |
FA complementation group A |
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ISO |
ClinVar Annotator: match by term: Calpainopathy |
ClinVar |
PMID:27854218 PMID:28492532 |
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NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
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G |
LOC100984344 |
calpain-3 |
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ISO |
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OMIM |
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NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820
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DYSF |
dysferlin |
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ISO |
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OMIM |
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NCBI chr2A:71,495,573...71,730,073
Ensembl chr2A:72,994,888...73,228,846
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LMNA |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B |
ClinVar |
PMID:25741868 PMID:31263448 |
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NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
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G |
LOC100978529 |
myosin-7 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 PMID:29300372 |
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NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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G |
LOC100984344 |
calpain-3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B |
ClinVar |
PMID:25741868 PMID:31263448 |
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NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820
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VDR |
vitamin D receptor |
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ISO |
protein:increased expression:muscle: |
RGD |
PMID:27558075 |
RGD:13210781 |
NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
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G |
SACS |
sacsin molecular chaperone |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
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G |
SGCG |
sarcoglycan gamma |
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ISO |
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OMIM |
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NCBI chr13:4,471,680...4,638,419
Ensembl chr13:22,810,771...22,932,350
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DAG1 |
dystroglycan 1 |
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ISO |
protein:increased degradation:skeletal muscle |
RGD |
PMID:15833425 |
RGD:11073211 |
NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
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G |
SACS |
sacsin molecular chaperone |
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ISO |
ClinVar Annotator: match by term: Sarcoglycanopathy |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 |
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NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
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G |
SGCA |
sarcoglycan alpha |
treatment |
ISO |
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OMIM RGD |
PMID:17653106 |
RGD:13605612 |
NCBI chr17:44,255,807...44,266,182
Ensembl chr17:49,130,332...49,141,188
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G |
SGCG |
sarcoglycan gamma |
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ISO |
ClinVar Annotator: match by term: Sarcoglycanopathy |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr13:4,471,680...4,638,419
Ensembl chr13:22,810,771...22,932,350
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G |
SGCB |
sarcoglycan beta |
treatment |
ISO |
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OMIM RGD |
PMID:28284983 |
RGD:13605613 |
NCBI chr 4:71,924,051...71,942,642
Ensembl chr 4:78,476,969...78,491,156
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G |
SGCD |
sarcoglycan delta |
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ISO |
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OMIM |
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NCBI chr 5:151,131,909...152,164,077
Ensembl chr 5:157,719,540...158,139,633
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G |
TCAP |
titin-cap |
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ISO |
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OMIM |
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NCBI chr17:17,622,318...17,625,252
Ensembl chr17:17,839,139...17,842,727
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G |
ASTN2 |
astrotactin 2 |
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ISO |
ClinVar Annotator: match by term: Sarcotubular myopathy |
ClinVar |
PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 PMID:17994549 PMID:19349376 PMID:21775502 PMID:22025579 PMID:22981120 PMID:23142638 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 9:87,558,337...88,538,570
Ensembl chr 9:115,912,657...116,890,931
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G |
TRIM32 |
tripartite motif containing 32 |
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ISO |
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OMIM |
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NCBI chr 9:87,819,723...87,838,684
Ensembl chr 9:116,183,746...116,185,707
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G |
FKRP |
fukutin related protein |
treatment |
ISO |
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OMIM RGD |
PMID:25048216 |
RGD:11667961 |
NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
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G |
STRN4 |
striatin 4 |
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ISO |
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED |
ClinVar |
PMID:25741868 |
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NCBI chr19:43,711,834...43,738,742
Ensembl chr19:52,240,880...52,260,241
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G |
TTN |
titin |
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ISO |
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OMIM |
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NCBI chr2B:65,783,512...66,064,618
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G |
ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
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G |
AIF1L |
allograft inflammatory factor 1 like |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:102,218,242...102,244,846
Ensembl chr 9:130,863,031...130,891,744
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G |
EXOSC2 |
exosome component 2 |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:101,815,368...101,826,464
Ensembl chr 9:130,464,487...130,475,719
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G |
FAM78A |
family with sequence similarity 78 member A |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:102,380,073...102,399,992
Ensembl chr 9:131,024,410...131,042,975
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G |
FIBCD1 |
fibrinogen C domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:102,018,681...102,058,898
Ensembl chr 9:130,668,147...130,695,731
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G |
FKRP |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED |
ClinVar |
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532 |
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NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
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G |
LAMC3 |
laminin subunit gamma 3 |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:102,131,594...102,213,829
Ensembl chr 9:130,777,182...130,861,292
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G |
NUP214 |
nucleoporin 214 |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:102,246,575...102,355,291
Ensembl chr 9:130,893,110...131,001,305
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G |
PLPP7 |
phospholipid phosphatase 7 (inactive) |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:102,411,095...102,431,146
Ensembl chr 9:131,055,406...131,073,474
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G |
POMT1 |
protein O-mannosyltransferase 1 |
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ISO |
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OMIM |
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NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
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G |
PRDM12 |
PR/SET domain 12 |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:101,786,052...101,803,287
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G |
PRRC2B |
proline rich coiled-coil 2B |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:102,516,585...102,622,588
Ensembl chr 9:131,193,641...131,262,894
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G |
QRFP |
pyroglutamylated RFamide peptide |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:102,008,900...102,013,194
Ensembl chr 9:130,659,140...130,659,550
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G |
ANO5 |
anoctamin 5 |
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ISO |
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OMIM |
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NCBI chr11:22,201,694...22,295,781
Ensembl chr11:22,112,482...22,206,637
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G |
FKTN |
fukutin |
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ISO |
DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human) |
RGD |
PMID:17044012 |
RGD:11576328 |
NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422 Ensembl chr 9:104,849,496...104,925,422
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G |
MFN2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L |
ClinVar |
PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:19889647 PMID:21285398 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25326637 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31188717 |
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NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
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G |
FKTN |
fukutin |
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ISO |
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OMIM |
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NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422 Ensembl chr 9:104,849,496...104,925,422
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G |
POMT2 |
protein O-mannosyltransferase 2 |
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ISO |
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OMIM |
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NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
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G |
POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
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OMIM |
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NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
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G |
TSPAN1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED |
ClinVar |
PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:30937090 PMID:30961548 PMID:33175337 |
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NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
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G |
AMT |
aminomethyltransferase |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 |
ClinVar |
PMID:20234391 PMID:28492532 |
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NCBI chr 3:49,344,590...49,350,383
Ensembl chr 3:50,589,193...50,594,968
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G |
C3H3orf62 |
chromosome 3 C3orf62 homolog |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 |
ClinVar |
PMID:20234391 PMID:28492532 |
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NCBI chr 3:49,191,640...49,199,806
Ensembl chr 3:50,273,460...50,279,995
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G |
C3H3orf84 |
chromosome 3 C3orf84 homolog |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 |
ClinVar |
PMID:20234391 PMID:28492532 |
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NCBI chr 3:49,100,962...49,115,215
Ensembl chr 3:50,180,907...50,195,215
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CCDC71 |
coiled-coil domain containing 71 |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 |
ClinVar |
PMID:20234391 PMID:28492532 |
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NCBI chr 3:49,085,870...49,089,723
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DAG1 |
dystroglycan 1 |
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ISO |
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OMIM |
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NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
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GPX1 |
glutathione peroxidase 1 |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 |
ClinVar |
PMID:20234391 PMID:28492532 |
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NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
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IHO1 |
interactor of HORMAD1 1 |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 |
ClinVar |
PMID:20234391 PMID:28492532 |
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NCBI chr 3:49,122,120...49,181,228
Ensembl chr 3:50,239,250...50,259,890
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KLHDC8B |
kelch domain containing 8B |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 |
ClinVar |
PMID:20234391 PMID:28492532 |
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NCBI chr 3:49,094,203...49,099,818
Ensembl chr 3:50,174,393...50,179,759
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LAMB2 |
laminin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 |
ClinVar |
PMID:20234391 PMID:28492532 |
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NCBI chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074
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LOC100967331 |
ubiquitin carboxyl-terminal hydrolase 4 |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 |
ClinVar |
PMID:20234391 PMID:28492532 |
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NCBI chr 3:49,199,328...49,263,861
Ensembl chr 3:50,279,642...50,343,903
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NICN1 |
nicolin 1 |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 |
ClinVar |
PMID:20234391 PMID:28492532 |
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NCBI chr 3:49,350,753...49,357,161
Ensembl chr 3:50,595,232...50,601,612
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RHOA |
ras homolog family member A |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 |
ClinVar |
PMID:20234391 PMID:28492532 |
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NCBI chr 3:49,282,009...49,339,887
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TCTA |
T cell leukemia translocation altered |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 |
ClinVar |
PMID:20234391 PMID:28492532 |
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NCBI chr 3:49,340,010...49,344,288
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PLEC |
plectin |
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ISO |
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OMIM |
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NCBI chr 8:140,681,252...140,742,753
Ensembl chr 8:143,674,696...143,712,433
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TRAPPC11 |
trafficking protein particle complex 11 |
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ISO |
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OMIM |
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NCBI chr 4:175,836,327...175,890,641
Ensembl chr 4:188,062,815...188,116,535
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GMPPB |
GDP-mannose pyrophosphorylase B |
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ISO |
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OMIM |
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NCBI chr 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969
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CRPPA |
CDP-L-ribitol pyrophosphorylase A |
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ISO |
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OMIM |
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NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220
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GPR17 |
G protein-coupled receptor 17 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W |
ClinVar |
PMID:28492532 |
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NCBI chr2B:32,623,444...32,630,256
Ensembl chr2B:128,316,464...128,321,519
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LIMS2 |
LIM zinc finger domain containing 2 |
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ISO |
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OMIM |
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NCBI chr2B:32,594,330...32,637,697
Ensembl chr2B:128,304,799...128,347,951
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BVES |
blood vessel epicardial substance |
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ISO |
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OMIM |
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NCBI chr 6:102,915,148...102,951,141
Ensembl chr 6:106,787,615...106,822,050
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TOR1AIP1 |
torsin 1A interacting protein 1 |
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ISO |
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OMIM |
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NCBI chr 1:155,362,806...155,401,185
Ensembl chr 1:159,043,072...159,081,408
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TOR1AIP2 |
torsin 1A interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y |
ClinVar |
PMID:24856141 PMID:25193337 |
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NCBI chr 1:155,321,181...155,358,966
Ensembl chr 1:159,005,944...159,039,058
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POGLUT1 |
protein O-glucosyltransferase 1 |
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ISO |
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OMIM |
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NCBI chr 3:116,591,271...116,617,382
Ensembl chr 3:123,503,899...123,529,919
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FANCI |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 |
ClinVar |
PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 |
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NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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POLG |
DNA polymerase gamma, catalytic subunit |
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ISO |
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OMIM |
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NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 |
ClinVar |
PMID:22689196 PMID:22851605 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
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RNASEH1 |
ribonuclease H1 |
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ISO |
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OMIM |
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NCBI chr2A:3,550,303...3,578,161
Ensembl chr2A:3,482,772...3,496,978
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TK2 |
thymidine kinase 2 |
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ISO |
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OMIM |
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NCBI chr16:46,793,679...46,868,508
Ensembl chr16:65,928,102...65,970,315
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DGUOK |
deoxyguanosine kinase |
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ISO |
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OMIM |
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NCBI chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563
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TOP3A |
DNA topoisomerase III alpha |
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ISO |
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OMIM |
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NCBI chr17:32,814,448...32,858,076
Ensembl chr17:37,897,037...37,936,135
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FOXC1 |
forkhead box C1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630904 |
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NCBI chr 6:1,429,051...1,433,180
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PAX6 |
paired box 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630904 |
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NCBI chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474
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PITX2 |
paired like homeodomain 2 |
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ISO |
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OMIM |
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NCBI chr 4:103,112,624...103,137,356
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PRDM5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:26489929 |
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NCBI chr 4:112,896,606...113,127,400
Ensembl chr 4:124,036,911...124,252,928
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DMD |
dystrophin |
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ISO |
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OMIM |
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NCBI chr X:23,728,650...26,338,849
Ensembl chr X:31,282,415...33,492,733
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PKP2 |
plakophilin 2 |
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ISO |
ClinVar Annotator: match by term: Becker muscular dystrophy |
ClinVar |
PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 |
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NCBI chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998
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SNTA1 |
syntrophin alpha 1 |
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ISO |
ClinVar Annotator: match by term: Becker muscular dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr20:29,696,137...29,732,258
Ensembl chr20:30,810,787...30,844,476
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DMD |
dystrophin |
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ISO |
ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy |
ClinVar |
PMID:7881286 PMID:12632325 PMID:17259292 PMID:19206170 PMID:19793655 PMID:19937601 PMID:21396098 PMID:21399986 PMID:22910583 PMID:23757202 PMID:24033266 PMID:25447171 PMID:25637381 PMID:25741868 PMID:26467025 PMID:27708273 PMID:28492532 PMID:28878402 |
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NCBI chr X:23,728,650...26,338,849
Ensembl chr X:31,282,415...33,492,733
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PKP2 |
plakophilin 2 |
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ISO |
ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy |
ClinVar |
PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 |
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NCBI chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998
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SNTA1 |
syntrophin alpha 1 |
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ISO |
ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr20:29,696,137...29,732,258
Ensembl chr20:30,810,787...30,844,476
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COL12A1 |
collagen type XII alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:72,927,897...73,049,168
Ensembl chr 6:76,219,319...76,340,496
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COL6A1 |
collagen type VI alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Collagen VI-related myopathy |
CTD ClinVar |
PMID:7695699 PMID:8218237 PMID:11707460 PMID:15689448 PMID:16130093 PMID:18414213 PMID:19344236 PMID:20302629 PMID:20981092 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:30564623 |
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NCBI chr21:32,322,185...32,346,850
Ensembl chr21:45,584,096...45,607,240
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COL6A2 |
collagen type VI alpha 2 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar Annotator: match by term: Bethlem myopathy |
CTD ClinVar |
PMID:12840783 PMID:15689448 PMID:16130093 PMID: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 |
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NCBI chr21:32,442,859...32,478,076
Ensembl chr21:45,710,491...45,730,895
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COL6A3 |
collagen type VI alpha 3 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar Annotator: match by term: Muscular dystrophy, benign congenital |
CTD ClinVar |
PMID:15563506 PMID:15689448 PMID:16935502 PMID:17785673 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:20976770 PMID:20981092 PMID:22995991 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25214167 PMID:25224718 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26467025 PMID:26872670 PMID:27854218 PMID:28492532 PMID:28688748 PMID:29970176 PMID:30487145 PMID:30564623 |
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NCBI chr2B:124,554,478...124,644,482
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FTCD |
formimidoyltransferase cyclodeaminase |
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ISO |
ClinVar Annotator: match by term: Collagen VI-related myopathy |
ClinVar |
PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400
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ACKR3 |
atypical chemokine receptor 3 |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:28492532 |
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NCBI chr2B:123,795,664...123,810,067
Ensembl chr2B:242,666,173...242,667,261
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CLCN5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:14673707 PMID:25741868 |
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NCBI chr X:42,137,523...42,299,716
Ensembl chr X:49,854,165...50,006,363
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COL6A1 |
collagen type VI alpha 1 chain |
susceptibility |
ISO |
Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human) |
OMIM RGD |
PMID:8782832 |
RGD:1600934 |
NCBI chr21:32,322,185...32,346,850
Ensembl chr21:45,584,096...45,607,240
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COL6A2 |
collagen type VI alpha 2 chain |
susceptibility |
ISO |
Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human) |
OMIM RGD |
PMID:8782832 |
RGD:1600934 |
NCBI chr21:32,442,859...32,478,076
Ensembl chr21:45,710,491...45,730,895
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COL6A3 |
collagen type VI alpha 3 chain |
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ISO |
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OMIM |
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NCBI chr2B:124,554,478...124,644,482
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COPS8 |
COP9 signalosome subunit 8 |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:28492532 |
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NCBI chr2B:124,315,423...124,328,830
Ensembl chr2B:243,169,322...243,182,937
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FTCD |
formimidoyltransferase cyclodeaminase |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400
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COL12A1 |
collagen type XII alpha 1 chain |
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ISO |
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OMIM |
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NCBI chr 6:72,927,897...73,049,168
Ensembl chr 6:76,219,319...76,340,496
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LOC100970414 |
histone H3.3A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24162739 |
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NCBI chr 1:201,523,670...201,533,005
Ensembl chr 1:206,520,109...206,529,447
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ATP2A1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
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ISO |
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OMIM |
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Ensembl chr16:29,265,516...29,290,807
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ATXN2L |
ataxin 2 like |
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ISO |
ClinVar Annotator: match by term: Brody myopathy |
ClinVar |
PMID:17882224 PMID:24707176 PMID:28492532 |
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Ensembl chr16:29,209,115...29,226,239
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RABEP2 |
rabaptin, RAB GTPase binding effector protein 2 |
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ISO |
ClinVar Annotator: match by term: Brody myopathy |
ClinVar |
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Ensembl chr16:29,289,949...29,314,177
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SH2B1 |
SH2B adaptor protein 1 |
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ISO |
ClinVar Annotator: match by term: Brody myopathy |
ClinVar |
PMID:17882224 PMID:24707176 PMID:28492532 |
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Ensembl chr16:29,249,597...29,263,334
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TUFM |
Tu translation elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Brody myopathy |
ClinVar |
PMID:17882224 PMID:24707176 PMID:28492532 |
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Ensembl chr16:29,227,852...29,233,513
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SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: Carney triad ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
ClinVar |
PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID: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 |
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NCBI chr 5:192,786...234,089
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SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
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ISO |
ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
ClinVar |
PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 PMID:17200167 PMID:17667967 PMID:17884808 PMID:19001511 PMID:19215943 PMID:19802898 PMID:21820839 PMID:23282968 PMID:24033266 PMID:25371406 PMID:25683602 PMID:25741868 PMID:25972245 PMID:26173966 PMID:26467025 PMID:26916530 PMID:28070496 PMID:28152038 PMID:28349240 PMID:28374168 PMID:28492532 PMID:28738844 PMID:29386252 |
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NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509
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SDHC |
succinate dehydrogenase complex subunit C |
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ISO |
ClinVar Annotator: match by term: Carney triad |
ClinVar |
PMID:12658451 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:21822798 PMID:24402737 PMID:26173966 PMID:28492532 |
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NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736
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ANTXR2 |
ANTXR cell adhesion molecule 2 |
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ISO |
ClinVar Annotator: match by term: Central core myopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 4:44,124,282...44,284,949
Ensembl chr 4:49,972,472...50,132,738
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ATP13A4 |
ATPase 13A4 |
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ISO |
ClinVar Annotator: match by term: Central core myopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 3:190,695,422...190,890,175
Ensembl chr 3:201,017,018...201,169,286
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G |
CLN8 |
CLN8 transmembrane ER and ERGIC protein |
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ISO |
ClinVar Annotator: match by term: Central core myopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:5,587,875...5,606,883
Ensembl chr 8:1,658,694...1,700,754
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G |
CRX |
cone-rod homeobox |
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ISO |
ClinVar Annotator: match by term: Central core myopathy |
ClinVar |
PMID:11139241 PMID:16123401 PMID:17964524 PMID:23049240 PMID:25741868 PMID:28492532 |
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NCBI chr19:44,828,119...44,856,284
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G |
MEFV |
MEFV innate immuity regulator, pyrin |
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ISO |
ClinVar Annotator: match by term: Central core myopathy |
ClinVar |
PMID:25741868 |
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NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970
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G |
PPT1 |
palmitoyl-protein thioesterase 1 |
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ISO |
ClinVar Annotator: match by term: Shy-Magee syndrome |
ClinVar |
PMID:18414213 PMID:21990111 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:39,358,424...39,383,087
Ensembl chr 1:40,683,841...40,708,609
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RYR1 |
ryanodine receptor 1 |
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ISO |
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OMIM |
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NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
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DNM2 |
dynamin 2 |
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ISO |
ClinVar Annotator: match by term: Myopathy, centronuclear |
ClinVar |
PMID:16227997 PMID:17008356 PMID:17932957 PMID:18414213 PMID:19130742 PMID:20227276 PMID:20529869 PMID:20700106 PMID:20817456 PMID:20858595 PMID:20927630 PMID:21221624 PMID:21762456 PMID:22096584 PMID:22369075 PMID:22396310 PMID:22613877 PMID:23338057 PMID:23394783 PMID:24016602 PMID:24088041 PMID:24135484 PMID:24366529 PMID:24465259 PMID:25262827 PMID:25326635 PMID:25492887 PMID:25501959 PMID:25741868 PMID:25957634 PMID:26199319 PMID:26273216 PMID:26467025 PMID:26633545 PMID:26842864 PMID:26908122 PMID:27343996 PMID:28492532 PMID:28676641 PMID:32860008 |
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NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478
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MTM1 |
myotubularin 1 |
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ISO |
ClinVar Annotator: match by term: Myotubular myopathy |
ClinVar |
PMID:18414213 |
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NCBI chr X:140,218,742...140,323,495
Ensembl chr X:150,174,758...150,255,381
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RYR1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Myotubular myopathy ClinVar Annotator: match by term: Centronuclear myopathy |
ClinVar |
PMID:22473935 PMID:25741868 PMID:28492532 |
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NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
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TTN |
titin |
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ISO |
ClinVar Annotator: match by term: Myotubular myopathy ClinVar Annotator: match by term: Centronuclear myopathy |
ClinVar |
PMID:22335739 PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 PMID:26701604 PMID:28492532 |
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NCBI chr2B:65,783,512...66,064,618
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DNM2 |
dynamin 2 |
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ISO |
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OMIM |
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NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478
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MTM1 |
myotubularin 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, centronuclear, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr X:140,218,742...140,323,495
Ensembl chr X:150,174,758...150,255,381
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MTMR14 |
myotubularin related protein 14 |
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ISO |
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OMIM |
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NCBI chr 3:9,600,866...9,653,860
Ensembl chr 3:9,839,821...9,892,055
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MYF6 |
myogenic factor 6 |
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ISO |
ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant ClinVar Annotator: match by term: Myopathy, centronuclear, 3 |
ClinVar |
PMID:11053684 PMID:25741868 PMID:28492532 |
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NCBI chr12:78,226,562...78,229,470
Ensembl chr12:81,338,339...81,340,176
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MYOD1 |
myogenic differentiation 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, centronuclear, 1 |
ClinVar |
PMID:31260566 |
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NCBI chr11:17,772,317...17,774,884
Ensembl chr11:17,456,124...17,458,690
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OTOGL |
otogelin like |
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ISO |
ClinVar Annotator: match by term: Myopathy, centronuclear, 3 |
ClinVar |
PMID:28492532 |
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NCBI chr12:77,630,854...77,894,894
Ensembl chr12:80,845,643...81,005,480
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PPP1R12A |
protein phosphatase 1 regulatory subunit 12A |
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ISO |
ClinVar Annotator: match by term: Myopathy, centronuclear, 3 |
ClinVar |
PMID:28492532 |
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NCBI chr12:77,306,155...77,459,455
Ensembl chr12:80,155,702...80,314,601
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PTPRQ |
protein tyrosine phosphatase receptor type Q |
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ISO |
ClinVar Annotator: match by term: Myopathy, centronuclear, 3 |
ClinVar |
PMID:28492532 |
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NCBI chr12:77,957,758...78,200,206
Ensembl chr12:81,068,545...81,310,857
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BIN1 |
bridging integrator 1 |
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ISO |
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OMIM |
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NCBI chr2B:33,168,767...33,228,075
Ensembl chr2B:127,716,550...127,775,378
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CCDC78 |
coiled-coil domain containing 78 |
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ISO |
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OMIM |
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Ensembl chr16:735,974...739,572
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CYP1B1 |
cytochrome P450 family 1 subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, centronuclear, 5 |
ClinVar |
PMID:10655546 PMID:11774072 PMID:11980847 PMID:14507861 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18622259 PMID:19204079 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:23028769 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25978063 PMID:27408750 PMID:27508083 PMID:27535533 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 |
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NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
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NF1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, centronuclear, 5 |
ClinVar |
PMID:10862084 PMID:12552569 PMID:15060124 PMID:15863657 PMID:16944272 PMID:17726231 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
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SPEG |
striated muscle enriched protein kinase |
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ISO |
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OMIM |
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NCBI chr2B:106,692,222...106,750,922
Ensembl chr2B:225,282,676...225,339,910
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MAP3K20 |
mitogen-activated protein kinase kinase kinase 20 |
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ISO |
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OMIM |
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NCBI chr2B:60,362,635...60,555,445
Ensembl chr2B:177,818,344...178,010,556
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CD99L2 |
CD99 molecule like 2 |
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ISO |
ClinVar Annotator: match by term: Severe X-linked myotubular myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr X:140,416,510...140,548,193
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G |
DNM2 |
dynamin 2 |
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ISO |
ClinVar Annotator: match by term: Severe X-linked myotubular myopathy |
ClinVar |
PMID:17932957 PMID:18414213 PMID:20227276 PMID:20700106 PMID:22396310 PMID:23338057 PMID:24135484 PMID:25741868 PMID:25957634 PMID:26199319 PMID:28492532 PMID:32860008 |
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NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478
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GPR50 |
G protein-coupled receptor 50 |
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ISO |
ClinVar Annotator: match by term: Severe X-linked myotubular myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr X:140,785,028...140,791,325
Ensembl chr X:150,742,959...150,749,652
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HMGB3 |
high mobility group box 3 |
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ISO |
ClinVar Annotator: match by term: Severe X-linked myotubular myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr X:140,632,163...140,639,774
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G |
MTM1 |
myotubularin 1 |
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ISO |
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OMIM |
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NCBI chr X:140,218,742...140,323,495
Ensembl chr X:150,174,758...150,255,381
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G |
MTMR1 |
myotubularin related protein 1 |
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ISO |
ClinVar Annotator: match by term: Severe X-linked myotubular myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr X:140,343,740...140,415,134
Ensembl chr X:150,279,183...150,346,900
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VMA21 |
vacuolar ATPase assembly factor VMA21 |
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ISO |
ClinVar Annotator: match by term: Severe X-linked myotubular myopathy |
ClinVar |
PMID:28492532 |
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NCBI chr X:140,995,525...141,008,351
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G |
FANCI |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 |
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NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28284481 PMID:28337550 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29474836 PMID:29482223 PMID:29588995 PMID:30255931 PMID:30290626 PMID:30373890 PMID:30843307 |
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NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia |
ClinVar |
PMID:22689196 PMID:22851605 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
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G |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
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OMIM |
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NCBI chr X:96,720,988...96,743,594
Ensembl chr X:107,094,898...107,117,117
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G |
LOC100988671 |
histone H3.3A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24162739 |
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NCBI chr17:69,728,165...69,730,519
Ensembl chr17:75,277,614...75,281,106
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G |
IL1A |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
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G |
IL1B |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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G |
MILR1 |
mast cell immunoglobulin like receptor 1 |
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ISO |
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions |
ClinVar |
PMID:21555342 PMID:25741868 PMID:28492532 |
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NCBI chr17:58,546,046...58,570,679
Ensembl chr17:63,638,549...63,663,193
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G |
MYF5 |
myogenic factor 5 |
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ISO |
ClinVar Annotator: match by term: Chronic progressive external ophthalmoplegia |
ClinVar |
PMID:10844060 PMID:29887215 |
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NCBI chr12:78,236,945...78,239,701
Ensembl chr12:81,347,324...81,350,389
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:mutations:cds: DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human) DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human) DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human) |
CTD RGD |
PMID:11431686 PMID:12565911 PMID:12975295 PMID:16401742 PMID:17420318 PMID:17923349 |
RGD:737726 RGD:8694163 RGD:8694170 RGD:8694183 RGD:8694204 |
NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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G |
POLG2 |
DNA polymerase gamma 2, accessory subunit |
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ISO |
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions |
ClinVar |
PMID:21555342 PMID:25741868 PMID:28492532 |
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NCBI chr17:58,574,442...58,593,915
Ensembl chr17:63,667,246...63,686,503
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G |
RRM2B |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions |
ClinVar |
PMID:21646632 PMID:21951382 |
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NCBI chr 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056
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G |
SLC25A4 |
solute carrier family 25 member 4 |
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ISO |
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions |
RGD ClinVar |
PMID:12565915 PMID:15792871 |
RGD:1580620 RGD:1580622 |
NCBI chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549
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G |
SOD1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11907800 |
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NCBI chr21:18,029,831...18,037,526
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G |
SOD2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11907800 PMID:14680979 |
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NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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G |
TWNK |
twinkle mtDNA helicase |
susceptibility |
ISO |
DNA:mutations ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar Annotator: match by term: Progressive external ophthalmoplegia |
RGD ClinVar |
PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 PMID:19513767 PMID:20479361 PMID:20659899 PMID:20880070 PMID:25741868 PMID:26467025 PMID:28812649 |
RGD:1600544 |
NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
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G |
AVIL |
advillin |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 |
ClinVar |
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NCBI chr12:31,108,569...31,129,307
Ensembl chr12:31,369,872...31,389,847
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G |
AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
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ISO |
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OMIM |
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NCBI chr X:119,256,425...119,292,612
Ensembl chr X:129,550,287...129,586,271
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G |
RAB33A |
RAB33A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 |
ClinVar |
PMID:20362274 PMID:22019070 PMID:25583628 PMID:25741868 PMID:26173962 PMID:26467025 PMID:28492532 |
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NCBI chr X:119,298,428...119,311,625
Ensembl chr X:129,591,222...129,605,214
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G |
MPHOSPH9 |
M-phase phosphoprotein 9 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 |
ClinVar |
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NCBI chr12:120,755,760...120,831,536
Ensembl chr12:124,991,210...125,065,203
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G |
MTRFR |
mitochondrial translation release factor in rescue |
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ISO |
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OMIM |
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NCBI chr12:120,831,264...120,856,215
Ensembl chr12:125,064,881...125,089,615
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G |
CNTN1 |
contactin 1 |
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ISO |
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OMIM |
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NCBI chr12:47,630,295...48,014,766
Ensembl chr12:48,492,564...48,670,126
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G |
FBN2 |
fibrillin 2 |
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ISO |
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OMIM |
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NCBI chr 5:123,673,209...123,953,741
Ensembl chr 5:129,435,248...129,715,711
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G |
DPM3 |
dolichyl-phosphate mannosyltransferase subunit 3, regulatory |
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ISO |
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OMIM |
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NCBI chr 1:130,487,584...130,488,330
Ensembl chr 1:134,096,219...134,096,587
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G |
ACTA1 |
actin alpha 1, skeletal muscle |
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ISO |
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OMIM |
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NCBI chr 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469
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G |
LOC100978529 |
myosin-7 |
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ISO |
ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion |
ClinVar |
PMID:1430197 PMID:1472461 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 PMID:7581410 PMID:7662452 PMID:7731997 PMID:7848420 PMID:8186698 PMID:8254035 PMID:8268932 PMID:8490051 PMID:9105042 PMID:9140839 PMID:9826622 PMID:9835779 PMID:10024460 PMID:10065021 PMID:10328076 PMID:10521296 PMID:10725281 PMID:10750581 PMID:10882745 PMID:11133230 PMID:11186938 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11861410 PMID:11861413 PMID:11968089 PMID:12081993 PMID:12707239 PMID:12818575 PMID:12820698 PMID:12975413 PMID:15010274 PMID:15136674 PMID:15358028 PMID:15483641 PMID:15528230 PMID:15563892 PMID:15757018 PMID:15856146 PMID:15858117 PMID:16199542 PMID:16267253 PMID:16630449 PMID:16858239 PMID:16918501 PMID:16938236 PMID:17125710 PMID:17438619 PMID:17560888 PMID:17612745 PMID:18029407 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18761664 PMID:19149795 PMID:19150014 PMID:19880069 PMID:20031618 PMID:20350521 PMID:20359594 PMID:20800588 PMID:20975235 PMID:21127202 PMID:21239446 PMID:21310275 PMID:21750094 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22429680 PMID:22455086 PMID:22464770 PMID:22765922 PMID:22857948 PMID:22958901 PMID:23054336 PMID:23074333 PMID:23197161 PMID:23233322 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23396983 PMID:23403236 PMID:23549607 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23751935 PMID:23785128 PMID:23794396 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24691700 PMID:24704860 PMID:24749114 PMID:24793961 PMID:25031304 PMID:25086479 PMID:25132132 PMID:25342278 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25714468 PMID:25741868 PMID:25937619 PMID:26187847 PMID:26573135 PMID:26743238 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27532257 PMID:27600940 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27885498 PMID:27974200 PMID:28138913 PMID:28193612 PMID:28241245 PMID:28356264 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28498465 PMID:28518168 PMID:28606303 PMID:28615295 PMID:28790153 PMID:29121657 PMID:29212898 PMID:29300372 PMID:30297972 PMID:30511546 PMID:30871747 PMID:31006259 PMID:31333075 PMID:31493341 PMID:31568572 PMID:32381727 |
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NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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G |
RYR1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion ClinVar Annotator: match by term: Congenital fiber-type disproportion |
ClinVar |
PMID:16940 PMID:18253 PMID:1743490 PMID:4149045 PMID:7299413 PMID:8661021 PMID:9199552 PMID:10097181 PMID:11274444 PMID:11575529 PMID:11709545 PMID:11741831 PMID:12123492 PMID:12642598 PMID:15175001 PMID:15210166 PMID:15221887 PMID:15448513 PMID:16084090 PMID:16163667 PMID:16380615 PMID:16621918 PMID:16732084 PMID:16917943 PMID:16940308 PMID:17033962 PMID:17081152 PMID:17365175 PMID:17483490 PMID:18171678 PMID:18253926 PMID:18414213 PMID:18564801 PMID:18765655 PMID:19191333 PMID:19648156 PMID:19685112 PMID:19825159 PMID:20142353 PMID:20583297 PMID:20681998 PMID:20839240 PMID:20888934 PMID:21062345 PMID:21157159 PMID:21674524 PMID:21825032 PMID:21911697 PMID:22203976 PMID:22415532 PMID:22473935 PMID:22992668 PMID:23329375 PMID:23394784 PMID:23553484 PMID:23553787 PMID:23558838 PMID:23826317 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24361844 PMID:24433488 PMID:24561095 PMID:24950660 PMID:25084811 PMID:25214167 PMID:25256590 PMID:25326635 PMID:25637381 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:25747005 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25989378 PMID:26381711 PMID:26633545 PMID:27854218 PMID:27857962 PMID:28224104 PMID:28259615 PMID:28357410 PMID:28403410 PMID:28492532 PMID:28818389 PMID:29172004 PMID:29293505 PMID:30155738 PMID:30236257 PMID:30611313 PMID:30788618 PMID:31055738 PMID:31680123 |
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NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
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SCN4A |
sodium voltage-gated channel alpha subunit 4 |
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ISO |
ClinVar Annotator: match by term: Severe neonatal hypotonia improving with age |
ClinVar |
PMID:25326635 PMID:25741868 |
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NCBI chr17:58,034,146...58,066,644
Ensembl chr17:63,128,550...63,161,043
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G |
SELENON |
selenoprotein N |
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ISO |
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OMIM |
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NCBI chr 1:25,058,907...25,076,817
Ensembl chr 1:26,127,125...26,141,745
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G |
TPM2 |
tropomyosin 2 |
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ISO |
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion |
ClinVar |
PMID:25741868 |
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NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394
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G |
TPM3 |
tropomyosin 3 |
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ISO |
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OMIM |
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NCBI chr 1:129,511,914...129,538,703
Ensembl chr 1:133,126,641...133,161,894
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G |
BCHE |
butyrylcholinesterase |
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ISO |
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RGD |
PMID:12383920 |
RGD:5688132 |
NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481
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G |
LAMA2 |
laminin subunit alpha 2 |
treatment |
ISO |
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OMIM RGD |
PMID:28714989 |
RGD:13605609 |
NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337
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G |
MFN2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy |
ClinVar |
PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:19889647 PMID:21285398 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25326637 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31188717 |
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NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
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G |
CRPPA |
CDP-L-ribitol pyrophosphorylase A |
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ISO |
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29260090 PMID:29382405 |
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NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220
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G |
FKBP14 |
FKBP prolyl isomerase 14 |
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ISO |
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related |
ClinVar |
PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:28492532 PMID:28617417 PMID:31132235 |
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NCBI chr 7:30,641,413...30,656,507
Ensembl chr 7:30,758,165...30,772,640
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G |
LAMA2 |
laminin subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
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NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337
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G |
LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related |
ClinVar |
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NCBI chr22:14,077,463...14,929,250
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G |
LMNA |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
PMID:15770669 PMID:25741868 PMID:26467025 PMID:26900797 PMID:28492532 |
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NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
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G |
LOC100984344 |
calpain-3 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17318636 PMID:20635405 PMID:21204801 PMID:21984748 PMID:25741868 PMID:26467025 PMID:27142102 PMID:28492532 |
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NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820
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G |
NEB |
nebulin |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr2B:38,796,991...39,038,824
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G |
POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
PMID:15466003 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:24033266 PMID:24123366 PMID:25326635 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30961548 |
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NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
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G |
POMT1 |
protein O-mannosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
PMID:23757202 PMID:24033266 |
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NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
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G |
POMT2 |
protein O-mannosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
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NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
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G |
RIF1 |
replication timing regulatory factor 1 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr2B:38,721,658...38,818,488
Ensembl chr2B:155,985,960...156,052,926
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G |
RYR1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 PMID:23329375 PMID:23394784 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27058611 PMID:27147545 PMID:27153395 PMID:28492532 |
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NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
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G |
TSPAN1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
PMID:15466003 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:24033266 PMID:24123366 PMID:25326635 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30961548 |
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NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
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G |
TTN |
titin |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr2B:65,783,512...66,064,618
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G |
CRPPA |
CDP-L-ribitol pyrophosphorylase A |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220
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G |
ITGA7 |
integrin subunit alpha 7 |
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ISO |
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OMIM |
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NCBI chr12:33,195,602...33,226,796
Ensembl chr12:33,923,549...33,950,886
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G |
LMNA |
lamin A/C |
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ISO |
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OMIM |
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NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
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G |
LAMA2 |
laminin subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency |
ClinVar |
PMID:8957020 PMID:9158149 PMID:9541105 PMID:9674786 PMID:10611118 PMID:10852549 PMID:11071490 PMID:12100448 PMID:12552556 PMID:18414213 PMID:20207543 PMID:21520333 PMID:21896784 PMID:21953594 PMID:22166137 PMID:22426012 PMID:23326386 PMID:24082139 PMID:24223650 PMID:24225367 PMID:24611677 PMID:24957499 PMID:25525159 PMID:25587058 PMID:25741868 PMID:26467025 PMID:26607181 PMID:27159402 PMID:27353517 PMID:27854218 PMID:27896284 PMID:28182637 PMID:28492532 PMID:28688748 PMID:29706646 PMID:30055037 PMID:30301903 PMID:30827497 |
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NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337
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G |
INPP5K |
inositol polyphosphate-5-phosphatase K |
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ISO |
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OMIM |
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NCBI chr17:1,477,511...1,499,765
Ensembl chr17:1,377,312...1,399,373
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G |
FKTN |
fukutin |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement |
ClinVar |
PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26923585 PMID:27065010 PMID:28492532 PMID:30060766 |
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NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422 Ensembl chr 9:104,849,496...104,925,422
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TRIP4 |
thyroid hormone receptor interactor 4 |
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ISO |
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OMIM |
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NCBI chr15:43,332,107...43,400,522
Ensembl chr15:61,623,584...61,692,963
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G |
GMPPB |
GDP-mannose pyrophosphorylase B |
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ISO |
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OMIM |
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NCBI chr 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969
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G |
ANKMY2 |
ankyrin repeat and MYND domain containing 2 |
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ISO |
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED |
ClinVar |
PMID:28492532 |
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NCBI chr 7:17,255,793...17,301,997
Ensembl chr 7:16,581,308...16,628,359
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G |
BZW2 |
basic leucine zipper and W2 domains 2 |
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ISO |
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED |
ClinVar |
PMID:28492532 |
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NCBI chr 7:17,302,322...17,362,737
Ensembl chr 7:16,628,679...16,688,982
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G |
CRPPA |
CDP-L-ribitol pyrophosphorylase A |
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ISO |
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OMIM |
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NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220
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G |
LRRC72 |
leucine rich repeat containing 72 |
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ISO |
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED |
ClinVar |
PMID:28492532 |
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NCBI chr 7:17,180,011...17,238,810
Ensembl chr 7:16,507,468...16,564,320
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G |
SOSTDC1 |
sclerostin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED |
ClinVar |
PMID:28492532 |
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NCBI chr 7:17,116,828...17,121,142
Ensembl chr 7:16,443,703...16,448,076
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G |
POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies |
ClinVar |
PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 |
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NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
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G |
TSPAN1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies |
ClinVar |
PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 |
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NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
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G |
B4GAT1 |
beta-1,4-glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 |
ClinVar |
PMID:23877401 PMID:25558065 |
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NCBI chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678
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G |
DAG1 |
dystroglycan 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
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G |
FKRP |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ClinVar Annotator: match by term: HARD syndrome |
ClinVar |
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:18036232 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:19155270 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19955119 PMID:21220724 PMID:21228398 PMID:21296577 PMID:22264518 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:27848944 PMID:28454995 PMID:28492532 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30564623 PMID:31041397 PMID:31671740 |
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NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
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G |
FKTN |
fukutin |
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ISO |
ClinVar Annotator: match by term: HARD syndrome ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 |
ClinVar |
PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26636822 PMID:26923585 PMID:27065010 PMID:28492532 PMID:28785732 PMID:30060766 |
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NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422 Ensembl chr 9:104,849,496...104,925,422
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POMT1 |
protein O-mannosyltransferase 1 |
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ISO |
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OMIM |
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NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
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POMT2 |
protein O-mannosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 |
ClinVar |
PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 |
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NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
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RXYLT1 |
ribitol xylosyltransferase 1 |
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ISO |
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OMIM |
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NCBI chr12:25,101,865...25,131,886
Ensembl chr12:25,599,173...25,628,872
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B3GALNT2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
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ISO |
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OMIM |
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NCBI chr 1:211,006,939...211,064,445
Ensembl chr 1:216,018,886...216,076,060
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TBCE |
tubulin folding cofactor E |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 |
ClinVar |
PMID:23453667 PMID:28492532 |
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NCBI chr 1:210,881,078...211,008,686
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FNTA |
farnesyltransferase, CAAX box, alpha |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:42,303,987...42,333,743
Ensembl chr 8:39,743,768...39,774,031
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HOOK3 |
hook microtubule tethering protein 3 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:42,145,427...42,278,727
Ensembl chr 8:39,595,762...39,711,043
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POMK |
protein O-mannose kinase |
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ISO |
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OMIM |
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NCBI chr 8:42,340,500...42,371,426
Ensembl chr 8:39,790,758...39,811,239
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RNF170 |
ring finger protein 170 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:42,097,900...42,145,327
Ensembl chr 8:39,541,479...39,588,163
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THAP1 |
THAP domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:42,084,934...42,092,044
Ensembl chr 8:39,528,366...39,535,207
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B4GAT1 |
beta-1,4-glucuronyltransferase 1 |
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ISO |
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OMIM |
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NCBI chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678
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POMT2 |
protein O-mannosyltransferase 2 |
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ISO |
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OMIM |
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NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
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POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
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OMIM |
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NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
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TSPAN1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 |
ClinVar |
PMID:11709191 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17906881 PMID:19299310 PMID:20215985 PMID:21361872 PMID:22323514 PMID:22522420 PMID:25390965 PMID:25741868 PMID:26467025 PMID:27493216 PMID:28492532 |
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NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
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FKRP |
fukutin related protein |
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ISO |
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OMIM |
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NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
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LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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ISO |
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OMIM |
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NCBI chr22:14,077,463...14,929,250
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POMGNT2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
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ISO |
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OMIM |
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NCBI chr 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557
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DAG1 |
dystroglycan 1 |
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ISO |
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OMIM |
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NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
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DNA2 |
DNA replication helicase/nuclease 2 |
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ISO |
ClinVar Annotator: match by term: Congenital myopathy |
ClinVar |
PMID:25741868 |
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NCBI chr10:64,898,024...64,956,541
Ensembl chr10:67,207,261...67,264,257
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FXR1 |
FMR1 autosomal homolog 1 |
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ISO |
ClinVar Annotator: match by term: Congenital myopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 3:177,948,040...178,012,705
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LOC100978529 |
myosin-7 |
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ISO |
ClinVar Annotator: match by term: Congenital myopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:25786579 PMID:27854218 PMID:28492532 |
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NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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RYR1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, congenital ClinVar Annotator: match by term: Batten Turner congenital myopathy ClinVar Annotator: match by term: Congenital myopathy |
ClinVar |
PMID:16084090 PMID:18414213 PMID:20080402 PMID:20839240 PMID:21911697 PMID:22473935 PMID:23035052 PMID:23394784 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24055113 PMID:24195946 PMID:25637381 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:26332594 PMID:28492532 PMID:28818389 PMID:30122538 PMID:30325262 PMID:30724636 PMID:31680123 |
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NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
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TTN |
titin |
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ISO |
ClinVar Annotator: match by term: Congenital myopathy |
ClinVar |
PMID:25741868 |
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NCBI chr2B:65,783,512...66,064,618
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HRAS |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Myopathy, congenital, with excess of muscle spindles |
ClinVar |
PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 PMID:8960317 PMID:11150980 PMID:15843272 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17384584 PMID:17412879 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19255327 PMID:19371735 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20979192 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:23406027 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24224811 PMID:25157968 PMID:25668678 PMID:25741868 PMID:25914166 PMID:26619011 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31775759 |
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NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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LRRC56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Myopathy, congenital, with excess of muscle spindles |
ClinVar |
PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 PMID:8960317 PMID:11150980 PMID:15843272 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17384584 PMID:17412879 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19255327 PMID:19371735 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20979192 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:23406027 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24224811 PMID:25157968 PMID:25668678 PMID:25741868 PMID:25914166 PMID:26619011 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31775759 |
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NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
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MYL1 |
myosin light chain 1 |
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ISO |
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OMIM |
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NCBI chr2B:97,548,013...97,573,336
Ensembl chr2B:215,950,087...215,974,852
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ACTN2 |
actinin alpha 2 |
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ISO |
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OMIM |
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NCBI chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103
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MYBPC1 |
myosin binding protein C1 |
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ISO |
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OMIM |
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NCBI chr12:99,179,611...99,269,521
Ensembl chr12:102,578,014...102,669,618
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RYR1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber |
ClinVar |
PMID:11709545 PMID:11741831 PMID:12565913 PMID:14732627 PMID:14985404 PMID:16084090 PMID:16163667 PMID:16372898 PMID:16380615 PMID:16621918 PMID:16732084 PMID:16835904 PMID:16917943 PMID:16940308 PMID:17081152 PMID:17226826 PMID:17365175 PMID:17483490 PMID:17538032 PMID:18171678 PMID:18414213 PMID:18719443 PMID:19191329 PMID:19191333 PMID:19346234 PMID:19513315 PMID:19807743 PMID:20142353 PMID:20681998 PMID:20839240 PMID:20981092 PMID:21455645 PMID:21514828 PMID:21795085 PMID:21965348 PMID:22415532 PMID:22473935 PMID:22705209 PMID:22734812 PMID:22913516 PMID:22992668 PMID:22995991 PMID:23204524 PMID:23329375 PMID:23394784 PMID:23460944 PMID:23553787 PMID:23558838 PMID:23628358 PMID:24033266 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25461839 PMID:25521991 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:25960145 PMID:25985138 PMID:25989378 PMID:26332594 PMID:26467025 PMID:27147545 PMID:27153395 PMID:27555149 PMID:28492532 PMID:29178655 PMID:29382405 PMID:30122538 PMID:30325262 PMID:30724636 PMID:31135626 |
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NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
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FXR1 |
FMR1 autosomal homolog 1 |
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ISO |
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OMIM |
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NCBI chr 3:177,948,040...178,012,705
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ACTA1 |
actin alpha 1, skeletal muscle |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469
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ANKRD1 |
ankyrin repeat domain 1 |
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ISO |
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RGD |
PMID:14516314 |
RGD:1578366 |
NCBI chr10:87,652,254...87,661,173
Ensembl chr10:91,180,034...91,188,165
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BIN1 |
bridging integrator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17676042 |
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NCBI chr2B:33,168,767...33,228,075
Ensembl chr2B:127,716,550...127,775,378
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CCDC78 |
coiled-coil domain containing 78 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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Ensembl chr16:735,974...739,572
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DNM2 |
dynamin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17376685 |
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NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478
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LDB3 |
LIM domain binding 3 |
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ISO |
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RGD |
PMID:11696561 |
RGD:1581815 |
NCBI chr10:83,095,625...83,164,297
Ensembl chr10:86,654,737...86,722,148 Ensembl chr10:86,654,737...86,722,148
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LOC100978529 |
myosin-7 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy |
CTD ClinVar |
PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 PMID:7581410 PMID:7662452 PMID:7731997 PMID:7848420 PMID:8186698 PMID:8254035 PMID:8268932 PMID:9105042 PMID:9140839 PMID:9826622 PMID:9835779 PMID:10024460 PMID:10065021 PMID:10328076 PMID:10521296 PMID:10725281 PMID:10750581 PMID:10882745 PMID:11133230 PMID:11186938 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11861410 PMID:11861413 PMID:11968089 PMID:12081993 PMID:12707239 PMID:12818575 PMID:12820698 PMID:12975413 PMID:15010274 PMID:15136674 PMID:15358028 PMID:15483641 PMID:15528230 PMID:15563892 PMID:15757018 PMID:15856146 PMID:15858117 PMID:16199542 PMID:16267253 PMID:16630449 PMID:16858239 PMID:16918501 PMID:17125710 PMID:17438619 PMID:17560888 PMID:17612745 PMID:18029407 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18761664 PMID:19150014 PMID:19880069 PMID:20031618 PMID:20350521 PMID:20800588 PMID:21127202 PMID:21239446 PMID:21310275 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22429680 PMID:22455086 PMID:22765922 PMID:22857948 PMID:22958901 PMID:23054336 PMID:23074333 PMID:23197161 PMID:23233322 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23396983 PMID:23403236 PMID:23549607 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23751935 PMID:23785128 PMID:23794396 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24691700 PMID:24704860 PMID:24793961 PMID:25031304 PMID:25132132 PMID:25342278 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25714468 PMID:25741868 PMID:25937619 PMID:26573135 PMID:26743238 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27885498 PMID:27974200 PMID:28138913 PMID:28193612 PMID:28241245 PMID:28356264 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28606303 PMID:28615295 PMID:28790153 PMID:29121657 PMID:29212898 PMID:29300372 PMID:30297972 PMID:30511546 PMID:30871747 PMID:31006259 PMID:31333075 PMID:31493341 PMID:31568572 PMID:32381727 |
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NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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MTM1 |
myotubularin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism myotubular myopathy, OMIM:310400, DNA:point mutation:exon:p.N207S (human) |
CTD RGD |
PMID:8640223 PMID:17376685 |
RGD:1600519 |
NCBI chr X:140,218,742...140,323,495
Ensembl chr X:150,174,758...150,255,381
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MTMR14 |
myotubularin related protein 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:9,600,866...9,653,860
Ensembl chr 3:9,839,821...9,892,055
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MYF6 |
myogenic factor 6 |
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ISO |
centronuclear myopathy, OMIM:160150, DNA:point mutation:exon:A112S |
RGD |
PMID:11053684 |
RGD:1600529 |
NCBI chr12:78,226,562...78,229,470
Ensembl chr12:81,338,339...81,340,176
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ORAI1 |
ORAI calcium release-activated calcium modulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr12:119,229,069...119,243,435
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RYR1 |
ryanodine receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy ClinVar Annotator: match by term: Myotubular myopathy |
CTD ClinVar |
PMID:16940 PMID:1743490 PMID:4149045 PMID:8661021 PMID:9199552 PMID:10097181 PMID:11274444 PMID:11575529 PMID:11709545 PMID:11741831 PMID:12123492 PMID:12642598 PMID:15175001 PMID:15210166 PMID:15221887 PMID:15448513 PMID:16084090 PMID:16163667 PMID:16380615 PMID:16621918 PMID:16732084 PMID:16917943 PMID:16940308 PMID:17033962 PMID:17081152 PMID:17376685 PMID:17483490 PMID:18171678 PMID:18253926 PMID:18414213 PMID:18564801 PMID:18765655 PMID:19191333 PMID:19648156 PMID:19685112 PMID:19825159 PMID:20142353 PMID:20583297 PMID:20681998 PMID:20839240 PMID:20888934 PMID:21062345 PMID:21157159 PMID:21674524 PMID:21825032 PMID:21911697 PMID:22203976 PMID:22473935 PMID:22992668 PMID:23329375 PMID:23394784 PMID:23553484 PMID:23553787 PMID:23558838 PMID:23826317 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24361844 PMID:24433488 PMID:24561095 PMID:24950660 PMID:25084811 PMID:25214167 PMID:25256590 PMID:25326635 PMID:25637381 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:25747005 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25989378 PMID:26381711 PMID:26633545 PMID:27854218 PMID:27857962 PMID:28224104 PMID:28259615 PMID:28357410 PMID:28403410 PMID:28492532 PMID:28818389 PMID:29172004 PMID:29293505 PMID:30155738 PMID:30236257 PMID:30611313 PMID:30788618 PMID:31055738 PMID:31680123 |
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NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
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SELENON |
selenoprotein N |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:25,058,907...25,076,817
Ensembl chr 1:26,127,125...26,141,745
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STIM1 |
stromal interaction molecule 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr11:3,726,501...3,954,951
Ensembl chr11:3,840,513...4,065,224
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TPM2 |
tropomyosin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394
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TPM3 |
tropomyosin 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:129,511,914...129,538,703
Ensembl chr 1:133,126,641...133,161,894
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MYH3 |
myosin heavy chain 3 |
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ISO |
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OMIM |
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NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735
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MYH3 |
myosin heavy chain 3 |
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ISO |
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OMIM |
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NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735
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C2 |
complement C2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3501473 |
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NCBI chr 6:31,590,135...31,606,368
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C9 |
complement C9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11359403 |
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NCBI chr 5:71,011,961...71,090,243
Ensembl chr 5:76,051,911...76,130,725
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CCR2 |
C-C motif chemokine receptor 2 |
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ISO |
protein:increased expression:limb muscle: |
RGD |
PMID:15772970 |
RGD:8661727 |
NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
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CD36 |
CD36 molecule |
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ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:17572512 |
RGD:6893508 |
NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
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CD40 |
CD40 molecule |
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ISO |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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CD40LG |
CD40 ligand |
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ISO |
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RGD |
PMID:18050371 |
RGD:8547765 |
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CX3CL1 |
C-X3-C motif chemokine ligand 1 |
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ISO |
protein:expression:serum |
RGD |
PMID:22394569 |
RGD:9491763 |
NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760
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FAS |
Fas cell surface death receptor |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:9182923 |
RGD:8662437 |
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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HGF |
hepatocyte growth factor |
disease_progression |
ISO |
protein:increased expression:serum: |
RGD |
PMID:8952317 |
RGD:8548628 |
NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
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IFNG |
interferon gamma |
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ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:19953283 |
RGD:7794747 |
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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IL18 |
interleukin 18 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:20601655 |
RGD:4889547 |
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
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IL1A |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19035492 |
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NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
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IL1B |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19035492 |
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NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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IL4 |
interleukin 4 |
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ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:19953283 |
RGD:7794747 |
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
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LOC100982859 |
patr class I histocompatibility antigen, B-2 alpha chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3501473 |
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NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067
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MBL2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:polymorphisms:cds:p.G54D,G57E(human) |
RGD |
PMID:12485445 |
RGD:8693750 |
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
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MMP9 |
matrix metallopeptidase 9 |
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ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:11157561 |
RGD:8547876 |
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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PMS1 |
PMS1 homolog 1, mismatch repair system component |
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ISO |
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RGD |
PMID:15856462 |
RGD:2324870 |
NCBI chr2B:77,090,215...77,180,724
Ensembl chr2B:195,010,233...195,100,492
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STAT4 |
signal transducer and activator of transcription 4 |
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ISO |
DNA:SNP: :rs7574865 (human) |
RGD |
PMID:22402141 |
RGD:8661693 |
NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
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THBD |
thrombomodulin |
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ISO |
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RGD |
PMID:17899683 |
RGD:5685006 |
NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812
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TLR2 |
toll like receptor 2 |
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ISO |
mRNA,protein:increased expression:muscle |
RGD |
PMID:19953283 |
RGD:7794747 |
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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TLR4 |
toll like receptor 4 |
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ISO |
mRNA,protein:increased expression:muscle |
RGD |
PMID:19953283 |
RGD:7794747 |
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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TNF |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19035492 |
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NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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MTAP |
methylthioadenosine phosphorylase |
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ISO |
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OMIM |
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NCBI chr 9:21,637,543...21,769,698
Ensembl chr 9:22,266,376...22,382,218
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KLHL7 |
kelch like family member 7 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:18414213 PMID:25741868 PMID:29074562 |
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NCBI chr 7:23,788,760...23,858,965
Ensembl chr 7:23,399,135...23,467,919
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MYBPC1 |
myosin binding protein C1 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
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NCBI chr12:99,179,611...99,269,521
Ensembl chr12:102,578,014...102,669,618
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G |
MYH3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
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NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735
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MYLPF |
myosin light chain, phosphorylatable, fast skeletal muscle |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:32707087 |
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NCBI chr16:24,591,731...24,598,807
Ensembl chr16:30,747,060...30,751,165
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RYR1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
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NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
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TNNI2 |
troponin I2, fast skeletal type |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:12592607 PMID:17101001 PMID:25741868 |
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NCBI chr11:1,874,633...1,878,343
Ensembl chr11:1,902,554...1,910,084
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TNNT3 |
troponin T3, fast skeletal type |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr11:1,936,614...1,955,784
Ensembl chr11:1,968,184...1,987,849
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USH2A |
usherin |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:22581970 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 |
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NCBI chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216
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CNTNAP1 |
contactin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 1A |
ClinVar |
PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 |
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NCBI chr17:14,618,294...14,635,193
Ensembl chr17:14,842,577...14,858,896
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MET |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 1A |
ClinVar |
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NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
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G |
MYH3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 1A |
ClinVar |
PMID:25741868 |
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NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735
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MYH8 |
myosin heavy chain 8 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 1A |
ClinVar |
PMID:25741868 |
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NCBI chr17:41,231,081...41,262,671
Ensembl chr17:45,978,472...46,010,038
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TPM2 |
tropomyosin 2 |
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ISO |
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OMIM |
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NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394
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MYBPC1 |
myosin binding protein C1 |
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ISO |
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OMIM |
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NCBI chr12:99,179,611...99,269,521
Ensembl chr12:102,578,014...102,669,618
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MYLPF |
myosin light chain, phosphorylatable, fast skeletal muscle |
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ISO |
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OMIM |
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NCBI chr16:24,591,731...24,598,807
Ensembl chr16:30,747,060...30,751,165
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MYH3 |
myosin heavy chain 3 |
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ISO |
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OMIM |
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NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735
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MYH3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 2B DNA:missense mutation:exon:p.A234T (769C>T) (human) ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities |
ClinVar RGD |
PMID:16642020 PMID:18414213 PMID:18695058 PMID:19142688 PMID:25741868 PMID:28492532 PMID:28779239 PMID:29805041 |
RGD:12792960 |
NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735
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TNNI2 |
troponin I2, fast skeletal type |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Distal arthrogryposis type 2B |
CTD ClinVar |
PMID:12592607 PMID:17101001 PMID:23850728 PMID:25741868 PMID:28492532 |
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NCBI chr11:1,874,633...1,878,343
Ensembl chr11:1,902,554...1,910,084
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G |
TNNT3 |
troponin T3, fast skeletal type |
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ISO |
DNA:missense mutation:cds;p.Arg63His(human) ClinVar Annotator: match by term: Distal arthrogryposis type 2B ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B |
RGD ClinVar |
PMID:10525521 PMID:12865991 PMID:18414213 PMID:19142688 PMID:21402185 PMID:25337069 PMID:25741868 PMID:28492532 |
RGD:1599490 |
NCBI chr11:1,936,614...1,955,784
Ensembl chr11:1,968,184...1,987,849
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TPM2 |
tropomyosin 2 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 2B |
ClinVar |
PMID:25741868 |
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NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394
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G |
MYH3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 |
ClinVar |
PMID:25741868 |
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NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735
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G |
TNNI2 |
troponin I2, fast skeletal type |
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ISO |
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OMIM |
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NCBI chr11:1,874,633...1,878,343
Ensembl chr11:1,902,554...1,910,084
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TNNT3 |
troponin T3, fast skeletal type |
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ISO |
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OMIM |
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NCBI chr11:1,936,614...1,955,784
Ensembl chr11:1,968,184...1,987,849
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G |
MYH3 |
myosin heavy chain 3 |
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ISO |
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OMIM |
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NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735
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G |
TPM2 |
tropomyosin 2 |
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ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B4 |
ClinVar |
PMID:17339586 PMID:23678273 PMID:27726070 PMID:30285720 |
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NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394
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PIEZO2 |
piezo type mechanosensitive ion channel component 2 |
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ISO |
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OMIM |
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NCBI chr18:3,141,285...3,619,885
Ensembl chr18:5,407,467...5,882,928
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G |
PIEZO2 |
piezo type mechanosensitive ion channel component 2 |
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ISO |
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OMIM |
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NCBI chr18:3,141,285...3,619,885
Ensembl chr18:5,407,467...5,882,928
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ECEL1 |
endothelin converting enzyme like 1 |
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ISO |
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OMIM |
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NCBI chr2B:119,711,355...119,719,378
Ensembl chr2B:238,630,731...238,637,233
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FBN2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Beals-Hecht syndrome ClinVar Annotator: match by term: Hecht syndrome |
ClinVar |
PMID:3495735 PMID:4750422 PMID:8653794 PMID:11754102 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:22325249 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:28492532 PMID:29926239 |
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NCBI chr 5:123,673,209...123,953,741
Ensembl chr 5:129,435,248...129,715,711
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G |
MYH8 |
myosin heavy chain 8 |
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ISO |
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OMIM |
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NCBI chr17:41,231,081...41,262,671
Ensembl chr17:45,978,472...46,010,038
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G |
PIEZO2 |
piezo type mechanosensitive ion channel component 2 |
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ISO |
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OMIM |
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NCBI chr18:3,141,285...3,619,885
Ensembl chr18:5,407,467...5,882,928
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G |
ADCY5 |
adenylate cyclase 5 |
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ISO |
ClinVar Annotator: match by term: Myopathy, distal, 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:120,380,094...120,545,725
Ensembl chr 3:127,283,921...127,446,508
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G |
FRMD1 |
FERM domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, distal, 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 6:166,017,245...166,058,694
Ensembl chr 6:170,976,006...171,014,550
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G |
LOC100991254 |
filamin-C |
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ISO |
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OMIM |
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NCBI chr 7:120,782,584...120,811,504
Ensembl chr 7:133,307,041...133,335,896
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