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:	51633
Gene Symbol:	OTUD6B

OTUD6B

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	5573
Gene Symbol:	PRKAR1A

PRKAR1A

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	123263
Gene Symbol:	MTFMT

MTFMT

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	998
Gene Symbol:	CDC42

CDC42

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	25836
Gene Symbol:	NIPBL

NIPBL

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

CausalMutation

CLINVAR

Entrez Id:	120534
Gene Symbol:	ARL14EP

ARL14EP

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.100

GeneticVariation

CLINVAR

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