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Schema
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Pathway
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Entries
ABC transporter disorders
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authored
[InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
created
[InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
dbId
5619084
disease
[Disease:5662932] disease
displayName
ABC transporter disorders
doi
10.3180/r-hsa-5619084.3
edited
[InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
eventOf
[Pathway:R-HSA-5619115] Disorders of transmembrane transporters - Homo sapiens
figure
[Figure:9698283] /figures/ehld/R-HSA-5619084.svg
hasDiagram
true
hasEHLD
true
hasEvent
[Pathway:R-HSA-5678895] Defective CFTR causes cystic fibrosis - Homo sapiens
[Pathway:R-HSA-5678771] Defective ABCB4 causes PFIC3, ICP3 and GBD1 - Homo sapiens
[Pathway:R-HSA-5683371] Defective ABCB6 causes MCOPCB7 - Homo sapiens
[Pathway:R-HSA-5678520] Defective ABCB11 causes PFIC2 and BRIC2 - Homo sapiens
[Pathway:R-HSA-5678420] Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome - Homo sapiens
[Pathway:R-HSA-5682113] Defective ABCA1 causes TGD - Homo sapiens
[Pathway:R-HSA-5682294] Defective ABCA12 causes ARCI4B - Homo sapiens
[Pathway:R-HSA-5683678] Defective ABCA3 causes SMDP3 - Homo sapiens
[Pathway:R-HSA-5679001] Defective ABCC2 causes DJS - Homo sapiens
[Pathway:R-HSA-5690338] Defective ABCC6 causes PXE - Homo sapiens
[Pathway:R-HSA-5683177] Defective ABCC8 can cause hypo- and hyper-glycemias - Homo sapiens
[Pathway:R-HSA-5684045] Defective ABCD1 causes ALD - Homo sapiens
[Pathway:R-HSA-5683329] Defective ABCD4 causes MAHCJ - Homo sapiens
[Pathway:R-HSA-5679096] Defective ABCG5 causes sitosterolemia - Homo sapiens
[Pathway:R-HSA-5679090] Defective ABCG8 causes GBD4 and sitosterolemia - Homo sapiens
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:5683649] Role of ABC transporters in lipid transport and human disease
[LiteratureReference:5684051] The genetics of ATP-binding cassette transporters
[LiteratureReference:5684050] Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance
[LiteratureReference:5684048] ABCG transporters and disease
[LiteratureReference:5684037] ABC proteins protect the human body and maintain optimal health
[LiteratureReference:5684046] Multidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseases
modified
[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name
ABC transporter disorders
releaseDate
2015-06-17
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5690296] Moitra, Karobi, 2015-04-28
[InstanceEdit:6797619] Shukla, Suneet, 2015-09-15
schemaClass
Pathway
species
[Species:48887] Homo sapiens
stId
R-HSA-5619084
summation
[Summation:5684044] The ATP-binding cassette (ABC) transporters form a large fam...
Referrals
(hasEvent)
[Pathway:R-HSA-5619115] Disorders of transmembrane transporters
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