Details of Disease | DrugMAP

General Information of Disease (ID: DISYOIXT)

Disease Name	Hepatorenocardiac degenerative fibrosis
Disease Hierarchy	DISYKSRF: Genetic disease DISYOIXT: Hepatorenocardiac degenerative fibrosis
Disease Identifiers	MONDO ID MONDO_0859254 UMLS CUI C5676996 OMIM ID 619902 MedGen ID 1808950

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TULP3	OT87CYMW	Strong	Autosomal recessive	[1]
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References

1	Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations. Am J Hum Genet. 2022 May 5;109(5):928-943. doi: 10.1016/j.ajhg.2022.03.015. Epub 2022 Apr 8.