中枢神经系统畸形
Central nervous system malformation
ORPHA:98044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 |
|---|---|---|
| ACD | ACD shelterin complex subunit and telomerase recruitment factor | ORPHA:3322 |
| AGTPBP1 | ATP/GTP binding carboxypeptidase 1 | ORPHA:2254 |
| AHI1 | Abelson helper integration site 1 | ORPHA:220493 |
| AKT3 | AKT serine/threonine kinase 3 | ORPHA:83473 |
| ALX4 | ALX homeobox 4 | ORPHA:60015 |
| AMPD2 | adenosine monophosphate deaminase 2 | ORPHA:369920 |
| B4GALT1 | beta-1,4-galactosyltransferase 1 | ORPHA:79332 |
| BRF1 | BRF1 general transcription factor IIIB subunit | ORPHA:444072 |
| CASK | calcium/calmodulin dependent serine protein kinase | ORPHA:163937 |
| CC2D2A | coiled-coil and C2 domain containing 2A | ORPHA:2318 |
| CCDC22 | CCC complex scaffolding subunit CCDC22 | ORPHA:7 |
| CCND2 | cyclin D2 | ORPHA:83473 |
| CEP120 | centrosomal protein 120 | ORPHA:220493 |
| CEP290 | centrosomal protein 290 | ORPHA:2318 |
| CEP41 | centrosomal protein 41 | ORPHA:220493 |
| CHMP1A | charged multivesicular body protein 1A | ORPHA:324569 |
| CLP1 | cleavage factor polyribonucleotide kinase subunit 1 | ORPHA:411493 |
| COASY | Coenzyme A synthase | ORPHA:611256 |
| CPLANE1 | ciliogenesis and planar polarity effector complex subunit 1 | ORPHA:2754 |
| DKC1 | dyskerin pseudouridine synthase 1 | ORPHA:3322 |
| DKK1 | dickkopf Wnt signaling pathway inhibitor 1 | ORPHA:268882 |
| DPYSL5 | dihydropyrimidinase like 5 | ORPHA:7 |
| EMC1 | ER membrane protein complex subunit 1 | ORPHA:480898 |
| EXOSC3 | exosome component 3 | ORPHA:2254 |
| EXOSC8 | exosome component 8 | ORPHA:2254 |
| EXOSC9 | exosome component 9 | ORPHA:2254 |
| FAM149B1 | family with sequence similarity 149 member B1 | ORPHA:2754 |
| FRMD4A | FERM domain containing 4A | ORPHA:466688 |
| FUZ | fuzzy planar cell polarity protein | ORPHA:3027 |
| GPKOW | G-patch domain and KOW motifs | ORPHA:2570 |
| INPP5E | inositol polyphosphate-5-phosphatase E | ORPHA:220493 |
| KIAA0753 | KIAA0753 | ORPHA:2754 |
| KIF14 | kinesin family member 14 | ORPHA:439897 |
| KIF7 | kinesin family member 7 | ORPHA:2754 |
| KPNA7 | karyopherin subunit alpha 7 | ORPHA:401959 |
| LAMA1 | laminin subunit alpha 1 | ORPHA:370022 |
| MAB21L1 | mab-21 like 1 | ORPHA:495875 |
| MKS1 | MKS transition zone complex subunit 1 | ORPHA:220493 |
| MSX2 | msh homeobox 2 | ORPHA:60015 |
| MTOR | mechanistic target of rapamycin kinase | ORPHA:457485 |
| NOTCH3 | notch receptor 3 | ORPHA:2789 |
| NPHP3 | nephrocystin 3 | ORPHA:3032 |
| OFD1 | OFD1 centriole and centriolar satellite protein | ORPHA:2754 |
| OPHN1 | oligophrenin 1 | ORPHA:137831 |
| PARN | poly(A)-specific ribonuclease | ORPHA:3322 |
| PCLO | piccolo presynaptic cytomatrix protein | ORPHA:97249 |
| PDE6D | phosphodiesterase 6D | ORPHA:2754 |
| PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | ORPHA:60040 |
| PIK3R2 | phosphoinositide-3-kinase regulatory subunit 2 | ORPHA:83473 |
| PTEN | phosphatase and tensin homolog | ORPHA:65285 |
| PTF1A | pancreas associated transcription factor 1a | ORPHA:65288 |
| RARS2 | arginyl-tRNA synthetase 2, mitochondrial | ORPHA:166073 |
| RPL10 | ribosomal protein L10 | ORPHA:459070 |
| RTEL1 | regulator of telomere elongation helicase 1 | ORPHA:3322 |
| SEPSECS | Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | ORPHA:2524 |
| SLC25A46 | solute carrier family 25 member 46 | ORPHA:2254 |
| SLC39A8 | solute carrier family 39 member 8 | ORPHA:468699 |
| SNX14 | sorting nexin 14 | ORPHA:397709 |
| TBXT | T-box transcription factor T | ORPHA:397927 |
| TCTN3 | tectonic family member 3 | ORPHA:2754 |
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）