DisGeNET - a database of gene-disease associations

AKR1C2, aldo-keto reductase family 1 member C2, 1646

N. diseases: 68; N. variants: 8

Disease: Ambiguous Genitalia ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0266362
Disease:	Ambiguous Genitalia

Ambiguous Genitalia

0.400

Biomarker

disease

CTD_human

The aldo-keto reductases (AKRs): Overview.

2015

CUI:	C0266362
Disease:	Ambiguous Genitalia

Ambiguous Genitalia

0.400

Biomarker

disease

HPO