Details of Disease | DrugMAP

General Information of Disease (ID: DISWAQLO)

Disease Name	Predisposition to invasive fungal disease due to CARD9 deficiency
Synonyms	CANDF2; candidiasis familial chronic mucocutaneous, autosomal recessive; CARD9 deficiency; candidiasis, familial, 2; CARD9 immunodeficiency; candidiasis, familial chronic mucocutaneous, autosomal recessive; candidiasis, familial, type 2; candidiasis, familial, 2, autosomal recessive; invasive candidiasis-deep dermatophytosis syndrome
Disease Hierarchy	DISIYKJL: Hereditary predisposition to infections DISWAQLO: Predisposition to invasive fungal disease due to CARD9 deficiency
Disease Identifiers	MONDO ID MONDO_0008905 MESH ID C537979 UMLS CUI C1859353 OMIM ID 212050 MedGen ID 347128 Orphanet ID 457088 SNOMED CT ID 1186719000

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
CARD9	OTJ81AWD	Strong	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.