DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: 46, XY Sex Reversal 5 ×

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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:	84733
Gene Symbol:	CBX2

CBX2

CUI:	C2751317
Disease:	46, XY Sex Reversal 5

46, XY Sex Reversal 5

0.600

GeneticVariation

UNIPROT

Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.

2009