DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Oval face ×

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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:	523
Gene Symbol:	ATP6V1A

ATP6V1A

CUI:	C1849025
Disease:	Oval face

Oval face

0.100

GeneticVariation

CLINVAR

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C1849025
Disease:	Oval face

Oval face

0.100

GeneticVariation

CLINVAR

Entrez Id:	3190
Gene Symbol:	HNRNPK

HNRNPK

CUI:	C1849025
Disease:	Oval face

Oval face

0.100

GeneticVariation

CLINVAR