Details of Disease | DrugMAP

General Information of Disease (ID: DISVF963)

Disease Name	Visual impairment and progressive phthisis bulbi
Synonyms	VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI; VIPB
Disease Hierarchy	DISYKSRF: Genetic disease DISVF963: Visual impairment and progressive phthisis bulbi
Disease Identifiers	MONDO ID MONDO_0032655 UMLS CUI C4748978 OMIM ID 618283 MedGen ID 1648430

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MARK3	TT3DCYJ	Limited	Autosomal recessive	[1]
MARK3	TT3DCYJ	Strong	Genetic Variation	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MARK3	OT9S73XD	Limited	Autosomal recessive	[1]
------------------------------------------------------------------------------------

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.
2	Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3. Hum Mol Genet. 2018 Aug 1;27(15):2703-2711. doi: 10.1093/hmg/ddy180.