DisGeNET - a database of gene-disease associations

Gene: ABCA5 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	23461
Gene Symbol:	ABCA5

ABCA5

CUI:	C1851120
Disease:	Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia

Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia

0.600

GermlineCausalMutation

ORPHANET

Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

2014