DisGeNET - a database of gene-disease associations

Gene: ABCA12 ×

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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:	26154
Gene Symbol:	ABCA12

ABCA12

CUI:	C0598226
Disease:	Harlequin type ichthyosis

Harlequin type ichthyosis

0.900

GermlineCausalMutation

ORPHANET

Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis.

2009