DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Large fontanelle ×

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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:	79728
Gene Symbol:	PALB2

PALB2

CUI:	C0456132
Disease:	Large fontanelle

Large fontanelle

0.100

CausalMutation

CLINVAR

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

CUI:	C0456132
Disease:	Large fontanelle

Large fontanelle

0.100

GeneticVariation

CLINVAR

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

CUI:	C0456132
Disease:	Large fontanelle

Large fontanelle

0.100

CausalMutation

CLINVAR