DisGeNET - a database of gene-disease associations

Source: LHGDN

Disease: Gonadal Dysgenesis, 46,XY ×

Gene: F8 ×

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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:	2157
Gene Symbol:	F8

F8

CUI:	C0018054
Disease:	Gonadal Dysgenesis, 46,XY

Gonadal Dysgenesis, 46,XY

0.010

GeneticVariation

LHGDN

Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene.

2006