罕见病知识库 RareSeen

代谢物吸收-转运障碍

Disorder of metabolite absorption and transport

ORPHA:309824疾病组

相关基因 27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
AMNamnion associated transmembrane proteinORPHA:35858
AP1B1adaptor related protein complex 1 subunit beta 1ORPHA:171851
AP1S1adaptor related protein complex 1 subunit sigma 1ORPHA:171851
ATP7AATPase copper transporting alphaORPHA:198
ATP7BATPase copper transporting betaORPHA:905
BCO1beta-carotene oxygenase 1ORPHA:199285
CBLIFcobalamin binding intrinsic factorORPHA:332
CD320CD320 moleculeORPHA:280183
CPceruloplasminORPHA:48818
CUBNcubilinORPHA:35858
DHFRdihydrofolate reductaseORPHA:319651
FOLR1folate receptor 1ORPHA:217382
FTCDformimidoyltransferase cyclodeaminaseORPHA:51208
FTLferritin light chainORPHA:157846
MTHFRmethylenetetrahydrofolate reductaseORPHA:395
MTHFSmethenyltetrahydrofolate synthetaseORPHA:597874
SCO2synthesis of cytochrome C oxidase 2ORPHA:521411
SLC11A2solute carrier family 11 member 2ORPHA:83642
SLC19A1solute carrier family 19 member 1ORPHA:661412
SLC30A10solute carrier family 30 member 10ORPHA:309854
SLC39A14solute carrier family 39 member 14ORPHA:521406
SLC39A4solute carrier family 39 member 4ORPHA:37
SLC46A1solute carrier family 46 member 1ORPHA:90045
SLC52A1solute carrier family 52 member 1ORPHA:411712
TCN1transcobalamin 1ORPHA:2967
TCN2transcobalamin 2ORPHA:859
TFtransferrinORPHA:1195

外部标识与链接

发现这一页有错误?告诉我 · 邮件主题会自动带上本页的 ORPHA 编号

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)