骨骼肌疾病
Skeletal muscle disease
ORPHA:98472疾病组
相关基因 56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 |
|---|---|---|
| ACTA1 | actin alpha 1, skeletal muscle | ORPHA:171433 |
| ATP2A1 | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 | ORPHA:53347 |
| CASQ1 | calsequestrin 1 | ORPHA:88635 |
| CCDC174 | coiled-coil domain containing 174 | ORPHA:467176 |
| 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 |
| 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:289380 |
| COL6A3 | collagen type VI alpha 3 chain | ORPHA:75840 |
| CRPPA | CDP-L-ribitol pyrophosphorylase A | ORPHA:352479 |
| DMPK | DM1 protein kinase | ORPHA:589824 |
| DNM2 | dynamin 2 | ORPHA:363409 |
| FHL1 | four and a half LIM domains 1 | ORPHA:97239 |
| FKRP | fukutin related protein | ORPHA:34515 |
| FKTN | fukutin | ORPHA:206554 |
| GMPPB | GDP-mannose pyrophosphorylase B | ORPHA:363623 |
| GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | ORPHA:602 |
| GYG1 | glycogenin 1 | ORPHA:456369 |
| HNRNPA1 | heterogeneous nuclear ribonucleoprotein A1 | ORPHA:52430 |
| HNRNPA2B1 | heterogeneous nuclear ribonucleoprotein A2/B1 | ORPHA:52430 |
| ISCU | iron-sulfur cluster assembly enzyme | ORPHA:43115 |
| KCNA1 | potassium voltage-gated channel subfamily A member 1 | ORPHA:972 |
| KIF21A | kinesin family member 21A | ORPHA:45358 |
| KLHL41 | kelch like family member 41 | ORPHA:171433 |
| MEGF10 | multiple EGF like domains 10 | ORPHA:439212 |
| MICU1 | mitochondrial calcium uptake 1 | ORPHA:401768 |
| MYH2 | myosin heavy chain 2 | ORPHA:363677 |
| MYH7 | myosin heavy chain 7 | ORPHA:59135 |
| MYL1 | myosin light chain 1 | ORPHA:544602 |
| MYO18B | myosin XVIIIB | ORPHA:447974 |
| NEB | nebulin | ORPHA:171433 |
| ORAI1 | ORAI calcium release-activated calcium modulator 1 | ORPHA:2593 |
| PABPN1 | poly(A) binding protein nuclear 1 | ORPHA:270 |
| PHOX2A | paired like homeobox 2A | ORPHA:45358 |
| POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | ORPHA:206564 |
| POMT1 | protein O-mannosyltransferase 1 | ORPHA:86812 |
| POMT2 | protein O-mannosyltransferase 2 | ORPHA:206559 |
| RBCK1 | RANBP2-type and C3HC4-type zinc finger containing 1 | ORPHA:397937 |
| RYR1 | ryanodine receptor 1 | ORPHA:324581 |
| SCN4A | sodium voltage-gated channel alpha subunit 4 | ORPHA:684 |
| SELENON | selenoprotein N | ORPHA:84132 |
| SLC16A1 | solute carrier family 16 member 1 | ORPHA:171690 |
| STAC3 | SH3 and cysteine rich domain 3 | ORPHA:168572 |
| STIM1 | stromal interaction molecule 1 | ORPHA:2593 |
| TPM3 | tropomyosin 3 | ORPHA:171433 |
| TTN | titin | ORPHA:178464 |
| TUBA1A | tubulin alpha 1a | ORPHA:45358 |
| TUBB2B | tubulin beta 2B class IIb | ORPHA:45358 |
| TUBB3 | tubulin beta 3 class III | ORPHA:45358 |
| VCP | valosin containing protein | ORPHA:52430 |
| VMA21 | vacuolar ATPase assembly factor VMA21 | ORPHA:25980 |
| ZC4H2 | zinc finger C4H2-type containing | ORPHA:3454 |
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）