Details of Disease | DrugMAP

General Information of Disease (ID: DISE6QNO)

Disease Name	Hearing loss, autosomal recessive 100
Synonyms	DFNB100; deafness, autosomal recessive 100
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DISE6QNO: Hearing loss, autosomal recessive 100
Disease Identifiers	MONDO ID MONDO_0032740 UMLS CUI C5193087 OMIM ID 618422 MedGen ID 1682525

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
PPIP5K2	OTO61OBN	Moderate	Autosomal recessive	[1]
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References

1	Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse. PLoS Genet. 2018 Mar 28;14(3):e1007297. doi: 10.1371/journal.pgen.1007297. eCollection 2018 Mar.