Ontify
⌘
S
⌘
S
ABC Transporter Disorders - Ontify
Share
ABC Transporter Disorders
Instance of the biological pathway in Homo sapiens with Reactome ID (R-HSA-5619084).
Statements about
ABC Transporter Disorders
Instance Of
Biological Pathway
Part Of
Disorders of Transmembrane Transporters
Has Part(s)
15 items
Defective CFTR Causes Cystic Fibrosis
Defective ABCC2 Causes DJS
Defective ABCA3 Causes SMDP3
Defective ABCG5 Causes Sitosterolemia
Defective ABCD4 Causes MAHCJ
Defective ABCG8 Causes GBD4 and Sitosterolemia
Exact Match
https://identifiers.org/reactome:R-H ...
Defective ABCB4 Causes PFIC3, ICP3 and GBD1
Defective ABCC9 Causes CMD10, ATFB12 and Cantu Syndrome
Defective ABCA12 Causes ARCI4B
Defective ABCB6 Causes MCOPCB7
Defective ABCB11 Causes PFIC2 and BRIC2
Defective ABCA1 Causes TGD
Defective ABCD1 Causes ALD
Defective ABCC8 Can Cause Hypo- and Hyper-Glycemias
Defective ABCC6 Causes PXE
WikidataWikidataWikidata