Details of Disease | DrugMAP

General Information of Disease (ID: DIS7B3HB)

Disease Name	Galloway-Mowat syndrome 1
Synonyms	GAMOS1; cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities; nephrosis-neuronal dysmigration syndrome; nephrosis-microcephaly syndrome; microcephaly, hiatal hernia, and nephrotic syndrome; spinocerebellar ataxia, autosomal recessive 5; cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities; Galloway syndrome; spinocerebellar ataxia, autosomal recessive 5, formerly; Galloway-Mowat syndrome 1
Disease Hierarchy	DISVB7IM: Galloway-Mowat syndrome DIS7B3HB: Galloway-Mowat syndrome 1
Disease Identifiers	MONDO ID MONDO_0033005 UMLS CUI C4551772 OMIM ID 251300 MedGen ID 1634188

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
WDR73	OT2MKQ5Z	Strong	Autosomal recessive	[1]
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References

1	PH dependence of the Adair constants of human hemoglobin. Nonuniform contribution of successive oxygen bindings to the alkaline Bohr effect. J Biol Chem. 1975 Mar 25;250(6):2227-31.