肌营养不良
Muscular dystrophy
ORPHA:98473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:447977 |
| ADSS1 | adenylosuccinate synthase 1 | ORPHA:482601 |
| ANO5 | anoctamin 5 | ORPHA:399096 |
| B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | ORPHA:588 |
| B4GAT1 | beta-1,4-glucuronyltransferase 1 | ORPHA:899 |
| CAV3 | caveolin 3 | ORPHA:488650 |
| CHKB | choline kinase beta | ORPHA:280671 |
| CNBP | CCHC-type zinc finger nucleic acid binding protein | ORPHA:606 |
| COL12A1 | collagen type XII alpha 1 chain | ORPHA:610 |
| COL25A1 | collagen type XXV alpha 1 chain | ORPHA:45358 |
| COL6A1 | collagen type VI alpha 1 chain | ORPHA:610 |
| COL6A2 | collagen type VI alpha 2 chain | ORPHA:610 |
| COL6A3 | collagen type VI alpha 3 chain | ORPHA:610 |
| CRPPA | CDP-L-ribitol pyrophosphorylase A | ORPHA:588 |
| CRYAB | crystallin alpha B | ORPHA:399058 |
| DAG1 | dystroglycan 1 | ORPHA:899 |
| DMD | dystrophin | ORPHA:206546 |
| DMPK | DM1 protein kinase | ORPHA:589824 |
| DPM2 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | ORPHA:329178 |
| DPM3 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | ORPHA:263494 |
| DYSF | dysferlin | ORPHA:45448 |
| EMD | emerin | ORPHA:98863 |
| FHL1 | four and a half LIM domains 1 | ORPHA:98863 |
| FKRP | fukutin related protein | ORPHA:588 |
| FKTN | fukutin | ORPHA:588 |
| FLNC | filamin C | ORPHA:63273 |
| GIPC1 | GIPC PDZ domain containing family member 1 | ORPHA:98897 |
| GMPPB | GDP-mannose pyrophosphorylase B | ORPHA:588 |
| HNRNPA1 | heterogeneous nuclear ribonucleoprotein A1 | ORPHA:399086 |
| INPP5K | inositol polyphosphate-5-phosphatase K | ORPHA:662184 |
| ITGA7 | integrin subunit alpha 7 | ORPHA:34520 |
| KIF21A | kinesin family member 21A | ORPHA:45358 |
| KLHL9 | kelch like family member 9 | ORPHA:399081 |
| LAMA2 | laminin subunit alpha 2 | ORPHA:565837 |
| LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | ORPHA:899 |
| LDB3 | LIM domain binding 3 | ORPHA:98912 |
| LMNA | lamin A/C | ORPHA:157973 |
| LRP12 | LDL receptor related protein 12 | ORPHA:98897 |
| MATR3 | matrin 3 | ORPHA:600 |
| MYH7 | myosin heavy chain 7 | ORPHA:59135 |
| MYOT | myotilin | ORPHA:98911 |
| NEB | nebulin | ORPHA:399103 |
| NOTCH2NLC | notch 2 N-terminal like C | ORPHA:98897 |
| NUTM2B-AS1 | NUTM2B antisense RNA 1 | ORPHA:98897 |
| 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:588 |
| POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | ORPHA:899 |
| POMK | protein O-mannose kinase | ORPHA:899 |
| POMT1 | protein O-mannosyltransferase 1 | ORPHA:588 |
| POMT2 | protein O-mannosyltransferase 2 | ORPHA:588 |
| RILPL1 | Rab interacting lysosomal protein like 1 | ORPHA:98897 |
| RXYLT1 | ribitol xylosyltransferase 1 | ORPHA:899 |
| SELENON | selenoprotein N | ORPHA:97244 |
| SMCHD1 | structural maintenance of chromosomes flexible hinge domain containing 1 | ORPHA:269 |
| SYNE1 | spectrin repeat containing nuclear envelope protein 1 | ORPHA:319332 |
| SYNE2 | spectrin repeat containing nuclear envelope protein 2 | ORPHA:98853 |
| TIA1 | TIA1 cytotoxic granule associated RNA binding protein | ORPHA:603 |
| TMEM43 | transmembrane protein 43 | ORPHA:98853 |
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）