骨骼肌疾病
Skeletal muscle disease
ORPHA:98472疾病组
相关基因 60来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| ABCD3 | ATP binding cassette subfamily D member 3 | ORPHA:98897 |
| ACTA1 | actin alpha 1, skeletal muscle | ORPHA:171433 |
| ADSS1 | adenylosuccinate synthase 1 | ORPHA:482601 |
| ANO5 | anoctamin 5 | ORPHA:206549 |
| ATP2A1 | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 | ORPHA:53347 |
| B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | ORPHA:899 |
| B4GAT1 | beta-1,4-glucuronyltransferase 1 | ORPHA:899 |
| BAG3 | BAG cochaperone 3 | ORPHA:199340 |
| BIN1 | bridging integrator 1 | ORPHA:169189 |
| CAPN3 | calpain 3 | ORPHA:267 |
| CASQ1 | calsequestrin 1 | ORPHA:2593 |
| CCDC174 | coiled-coil domain containing 174 | ORPHA:467176 |
| CCDC78 | coiled-coil domain containing 78 | ORPHA:319160 |
| CFL2 | cofilin 2 | ORPHA:171436 |
| CHCHD10 | coiled-coil-helix-coiled-coil-helix domain containing 10 | ORPHA:457050 |
| CHKB | choline kinase beta | ORPHA:521305 |
| CNBP | CCHC-type zinc finger nucleic acid binding protein | ORPHA:606 |
| CNTN1 | contactin 1 | ORPHA:210163 |
| COA5 | cytochrome c oxidase assembly factor 5 | ORPHA:1561 |
| COA6 | cytochrome c oxidase assembly factor 6 | ORPHA:1561 |
| COL12A1 | collagen type XII alpha 1 chain | ORPHA:75840 |
| COL25A1 | collagen type XXV alpha 1 chain | ORPHA:45358 |
| COL6A1 | collagen type VI alpha 1 chain | ORPHA:75840 |
| COL6A2 | collagen type VI alpha 2 chain | ORPHA:75840 |
| COL6A3 | collagen type VI alpha 3 chain | ORPHA:75840 |
| COX15 | cytochrome c oxidase assembly factor COX15 | ORPHA:1561 |
| CRPPA | CDP-L-ribitol pyrophosphorylase A | ORPHA:899 |
| CRYAB | crystallin alpha B | ORPHA:280553 |
| DAG1 | dystroglycan 1 | ORPHA:899 |
| DES | desmin | ORPHA:98909 |
| DMD | dystrophin | ORPHA:206546 |
| DMPK | DM1 protein kinase | ORPHA:589824 |
| DNAJB6 | DnaJ heat shock protein family (Hsp40) member B6 | ORPHA:34516 |
| DNM2 | dynamin 2 | ORPHA:363409 |
| DPM2 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | ORPHA:329178 |
| DPM3 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | ORPHA:263494 |
| DYSF | dysferlin | ORPHA:199329 |
| EMD | emerin | ORPHA:98863 |
| FHL1 | four and a half LIM domains 1 | ORPHA:97239 |
| FKRP | fukutin related protein | ORPHA:899 |
| FKTN | fukutin | ORPHA:899 |
| FLNC | filamin C | ORPHA:171445 |
| GFER | growth factor, augmenter of liver regeneration | ORPHA:330054 |
| GIPC1 | GIPC PDZ domain containing family member 1 | ORPHA:98897 |
| GMPPB | GDP-mannose pyrophosphorylase B | ORPHA:370968 |
| GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | ORPHA:602 |
| GYG1 | glycogenin 1 | ORPHA:456369 |
| HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | ORPHA:746 |
| HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | ORPHA:746 |
| HMGCR | 3-hydroxy-3-methylglutaryl-CoA reductase | ORPHA:653725 |
| HNRNPA1 | heterogeneous nuclear ribonucleoprotein A1 | ORPHA:52430 |
| HNRNPA2B1 | heterogeneous nuclear ribonucleoprotein A2/B1 | ORPHA:52430 |
| HNRNPDL | heterogeneous nuclear ribonucleoprotein D like | ORPHA:55596 |
| INPP5K | inositol polyphosphate-5-phosphatase K | ORPHA:662184 |
| ISCU | iron-sulfur cluster assembly enzyme | ORPHA:43115 |
| ITGA7 | integrin subunit alpha 7 | ORPHA:34520 |
| KBTBD13 | kelch repeat and BTB domain containing 13 | ORPHA:171439 |
| KCNA1 | potassium voltage-gated channel subfamily A member 1 | ORPHA:972 |
| KIF21A | kinesin family member 21A | ORPHA:45358 |
| KLHL40 | kelch like family member 40 | ORPHA:171430 |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）