DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Hyperextensible skin of 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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	29888
Gene Symbol:	STRN4

STRN4

striatin 4

0.792

0.346

0.99

CUI:	C4024883
Disease:	Hyperextensible skin of face

Hyperextensible skin of face

phenotype

0.100

None

Entrez Id:	79147
Gene Symbol:	FKRP

FKRP

fukutin related protein

0.513

0.731

9.8E-06

CUI:	C4024883
Disease:	Hyperextensible skin of face

Hyperextensible skin of face

phenotype

0.100

None