General Information of Disease (ID: DISCRNK4)

Disease Name Galloway-Mowat syndrome 5
Synonyms GAMOS5; Galloway-Mowat syndrome 5
Disease Hierarchy
DISVB7IM: Galloway-Mowat syndrome
DISCRNK4: Galloway-Mowat syndrome 5
Disease Identifiers
MONDO ID
MONDO_0033009
UMLS CUI
C4540274
OMIM ID
617731
MedGen ID
1617227

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
TPRKB OTV4QEVT Limited Autosomal recessive [1]
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References

1 Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.