Details of Disease

General Information of Disease (ID: DISD071D)

Disease Name Genitourinary and/or brain malformation syndrome
Synonyms GUBS; GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; genitourinary and/or/brain malformation syndrome; genitourinary and/or brain malformation syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISD071D: Genitourinary and/or brain malformation syndrome
Disease Identifiers
MONDO ID
MONDO_0032934
UMLS CUI
C5394158
OMIM ID
618820
MedGen ID
1720440

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
PPP1R12A OT4AVU95 Strong Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.