DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Cardio-facio-cutaneous syndrome ×

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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:	8036
Gene Symbol:	SHOC2

SHOC2

SHOC2 leucine rich repeat scaffold protein

0.593

0.769

1.00

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

disease

0.310

disputed

1.000

0

2010

2010

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

protein phosphatase 1 catalytic subunit beta

0.601

0.577

1.00

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

disease

0.300

0

Entrez Id:	6655
Gene Symbol:	SOS2

SOS2

SOS Ras/Rho guanine nucleotide exchange factor 2

0.608

0.692

1.00

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

disease

0.300

0