DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Dysmorphic facies ×

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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:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	8021
Gene Symbol:	NUP214

NUP214

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	9990
Gene Symbol:	SLC12A6

SLC12A6

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	22983
Gene Symbol:	MAST1

MAST1

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	23233
Gene Symbol:	EXOC6B

EXOC6B

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.

2013

Entrez Id:	6857
Gene Symbol:	SYT1

SYT1

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	9968
Gene Symbol:	MED12

MED12

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	2904
Gene Symbol:	GRIN2B

GRIN2B

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	81857
Gene Symbol:	MED25

MED25

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	23299
Gene Symbol:	BICD2

BICD2

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	84265
Gene Symbol:	POLR3GL

POLR3GL

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	25836
Gene Symbol:	NIPBL

NIPBL

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	1654
Gene Symbol:	DDX3X

DDX3X

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	3756
Gene Symbol:	KCNH1

KCNH1

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	8913
Gene Symbol:	CACNA1G

CACNA1G

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	56975
Gene Symbol:	FAM20C

FAM20C

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	26503
Gene Symbol:	SLC17A5

SLC17A5

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	26137
Gene Symbol:	ZBTB20

ZBTB20

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	79813
Gene Symbol:	EHMT1

EHMT1

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	253738
Gene Symbol:	EBF3

EBF3

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	1654
Gene Symbol:	DDX3X

DDX3X

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	57492
Gene Symbol:	ARID1B

ARID1B

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	4693
Gene Symbol:	NDP

NDP

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR