DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Crumpled ear ×

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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:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C4024166
Disease:	Crumpled ear

Crumpled ear

0.100

GeneticVariation

CLINVAR

Entrez Id:	7703
Gene Symbol:	PCGF2

PCGF2

CUI:	C4024166
Disease:	Crumpled ear

Crumpled ear

0.100

GeneticVariation

CLINVAR

Entrez Id:	55690
Gene Symbol:	PACS1

PACS1

CUI:	C4024166
Disease:	Crumpled ear

Crumpled ear

0.100

CausalMutation

CLINVAR

Entrez Id:	285175
Gene Symbol:	UNC80

UNC80

CUI:	C4024166
Disease:	Crumpled ear

Crumpled ear

0.100

GeneticVariation

CLINVAR