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:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	6016
Gene Symbol:	RIT1

RIT1

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	23522
Gene Symbol:	KAT6B

KAT6B

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	147965
Gene Symbol:	FAM98C

FAM98C

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	9343
Gene Symbol:	EFTUD2

EFTUD2

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	1952
Gene Symbol:	CELSR2

CELSR2

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	2312
Gene Symbol:	FLG

FLG

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	9968
Gene Symbol:	MED12

MED12

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	4247
Gene Symbol:	MGAT2

MGAT2

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

CausalMutation

CLINVAR

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	80155
Gene Symbol:	NAA15

NAA15

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	63979
Gene Symbol:	FIGNL1

FIGNL1

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	7274
Gene Symbol:	TTPA

TTPA

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	3054
Gene Symbol:	HCFC1

HCFC1

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	3899
Gene Symbol:	AFF3

AFF3

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	1644
Gene Symbol:	DDC

DDC

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	4627
Gene Symbol:	MYH9

MYH9

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

Entrez Id:	1301
Gene Symbol:	COL11A1

COL11A1

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

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