Details of Disease | DrugMAP

General Information of Disease (ID: DISMUAH7)

Disease Name	Bile acid malabsorption, primary, 1
Synonyms	PBAM; Bile acid malabsorption, primary, 1; bile acid malabsorption, primary
Disease Hierarchy	DISYKSRF: Genetic disease DISMUAH7: Bile acid malabsorption, primary, 1
Disease Identifiers	MONDO ID MONDO_0013214 UMLS CUI C5561934 OMIM ID 613291 MedGen ID 1794144 Orphanet ID 449262

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC10A2	DT7JELC	Limited	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC10A2	OTIHSXO8	Limited	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.