Details of Disease

General Information of Disease (ID: DISKKZRN)

Disease Name Rabin-Pappas syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISKKZRN: Rabin-Pappas syndrome
Disease Identifiers
MONDO ID
MONDO_0859331
UMLS CUI
C5774269
OMIM ID
620155
MedGen ID
1824042

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
SETD2 TTPC3H4 Strong 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
SETD2 OTQW463T Strong Autosomal dominant [1]
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References

1 Genotype-phenotype correlation at codon 1740 of SETD2. Am J Med Genet A. 2020 Sep;182(9):2037-2048. doi: 10.1002/ajmg.a.61724. Epub 2020 Jul 24.