表皮疾病
Epidermal disease
ORPHA:79353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 |
|---|---|---|
| AAGAB | alpha and gamma adaptin binding protein | ORPHA:79501 |
| ADAM17 | ADAM metallopeptidase domain 17 | ORPHA:294023 |
| AP1B1 | adaptor related protein complex 1 subunit beta 1 | ORPHA:171851 |
| AP1S1 | adaptor related protein complex 1 subunit sigma 1 | ORPHA:171851 |
| AP1S3 | adaptor related protein complex 1 subunit sigma 3 | ORPHA:163927 |
| AQP5 | aquaporin 5 | ORPHA:2337 |
| ATP2A2 | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | ORPHA:218 |
| ATP2C1 | ATPase secretory pathway Ca2+ transporting 1 | ORPHA:2841 |
| CCDC91 | coiled-coil domain containing 91 | ORPHA:38 |
| CD151 | CD151 molecule (Raph blood group) | ORPHA:300333 |
| CLDN1 | claudin 1 | ORPHA:59303 |
| COG6 | component of oligomeric golgi complex 6 | ORPHA:363523 |
| COL17A1 | collagen type XVII alpha 1 chain | ORPHA:79406 |
| COL7A1 | collagen type VII alpha 1 chain | ORPHA:79411 |
| CTSC | cathepsin C | ORPHA:678 |
| DSG1 | desmoglein 1 | ORPHA:369999 |
| DSP | desmoplakin | ORPHA:293165 |
| DST | dystonin | ORPHA:412181 |
| ELOVL4 | ELOVL fatty acid elongase 4 | ORPHA:1955 |
| EXPH5 | exophilin 5 | ORPHA:412189 |
| FAM111B | FAM111 trypsin like peptidase B | ORPHA:221043 |
| FDPS | farnesyl diphosphate synthase | ORPHA:79152 |
| FERMT1 | FERM domain containing kindlin 1 | ORPHA:2908 |
| GJA1 | gap junction protein alpha 1 | ORPHA:317 |
| GJB2 | gap junction protein beta 2 | ORPHA:2202 |
| GJB3 | gap junction protein beta 3 | ORPHA:317 |
| GJB4 | gap junction protein beta 4 | ORPHA:317 |
| GJB6 | gap junction protein beta 6 | ORPHA:189 |
| GRHL2 | grainyhead like transcription factor 2 | ORPHA:423454 |
| IL36RN | interleukin 36 receptor antagonist | ORPHA:404546 |
| ITGA3 | integrin subunit alpha 3 | ORPHA:306504 |
| ITGA6 | integrin subunit alpha 6 | ORPHA:79403 |
| ITGB4 | integrin subunit beta 4 | ORPHA:158684 |
| KANK2 | KN motif and ankyrin repeat domains 2 | ORPHA:420686 |
| KDSR | 3-ketodihydrosphingosine reductase | ORPHA:317 |
| KLHL24 | kelch like family member 24 | ORPHA:508529 |
| KRT1 | keratin 1 | ORPHA:2199 |
| KRT14 | keratin 14 | ORPHA:86920 |
| KRT16 | keratin 16 | ORPHA:448264 |
| KRT17 | keratin 17 | ORPHA:2309 |
| KRT5 | keratin 5 | ORPHA:79399 |
| KRT6A | keratin 6A | ORPHA:2309 |
| KRT6B | keratin 6B | ORPHA:2309 |
| KRT6C | keratin 6C | ORPHA:402003 |
| KRT9 | keratin 9 | ORPHA:2199 |
| LAMA3 | laminin subunit alpha 3 | ORPHA:79404 |
| LAMB3 | laminin subunit beta 3 | ORPHA:79404 |
| LAMC2 | laminin subunit gamma 2 | ORPHA:79404 |
| LORICRIN | loricrin cornified envelope precursor protein | ORPHA:79395 |
| LRP1 | LDL receptor related protein 1 | ORPHA:2340 |
| LSS | lanosterol synthase | ORPHA:1366 |
| MBTPS2 | membrane bound transcription factor peptidase, site 2 | ORPHA:2340 |
| MT-TS1 | mitochondrially encoded tRNA-Ser (UCN) 1 | ORPHA:2202 |
| MVD | mevalonate diphosphate decarboxylase | ORPHA:79152 |
| MVK | mevalonate kinase | ORPHA:735 |
| NLRP1 | NLR family pyrin domain containing 1 | ORPHA:352662 |
| PERP | p53 apoptosis effector related to PMP22 | ORPHA:659 |
| PLEC | plectin | ORPHA:79401 |
| PMVK | phosphomevalonate kinase | ORPHA:735 |
| POMP | proteasome maturation protein | ORPHA:281201 |
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）