DisGeNET - a database of gene-disease associations

Gene: CRYAA ×

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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:	1409
Gene Symbol:	CRYAA

CRYAA

CUI:	C0266539
Disease:	Congenital total cataract

Congenital total cataract

0.300

GermlineCausalMutation

ORPHANET

Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family.

2006