Details of Disease

General Information of Disease (ID: DISFHT49)

Disease Name Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
Synonyms MRCS1
Disease Hierarchy
DISYKSRF: Genetic disease
DISFHT49: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
Disease Identifiers
MONDO ID
MONDO_0033644
UMLS CUI
C5436769
OMIM ID
619082
MedGen ID
1755099

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ARL2 TTIDSFT Limited Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARL2 OTICNK0O Limited Autosomal dominant [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.