DisGeNET - a database of gene-disease associations

Broad forehead, C1849089

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Source: ALL

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	6595
Gene Symbol:	SMARCA2

SMARCA2

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	7021
Gene Symbol:	TFAP2B

TFAP2B

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

0.100

GeneticVariation

phenotype

CLINVAR

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

2016

Entrez Id:	55023
Gene Symbol:	PHIP

PHIP

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	79813
Gene Symbol:	EHMT1

EHMT1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	5982
Gene Symbol:	RFC2

RFC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	25970
Gene Symbol:	SH2B1

SH2B1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2530
Gene Symbol:	FUT8

FUT8

0.100

Biomarker

phenotype

HPO

Entrez Id:	7021
Gene Symbol:	TFAP2B

TFAP2B

0.100

Biomarker

phenotype

HPO

Entrez Id:	28952
Gene Symbol:	CCDC22

CCDC22

0.100

Biomarker

phenotype

HPO

Entrez Id:	140628
Gene Symbol:	GATA5

GATA5

0.100

Biomarker

phenotype

HPO

Entrez Id:	3845
Gene Symbol:	KRAS

KRAS

0.100

Biomarker

phenotype

HPO

Entrez Id:	23118
Gene Symbol:	TAB2

TAB2

0.100

Biomarker

phenotype

HPO

Entrez Id:	9508
Gene Symbol:	ADAMTS3

ADAMTS3

0.100

Biomarker

phenotype

HPO

Entrez Id:	1009
Gene Symbol:	CDH11

CDH11

0.100

Biomarker

phenotype

HPO

Entrez Id:	3040
Gene Symbol:	HBA2

HBA2

0.100

Biomarker

phenotype

HPO

Entrez Id:	84667
Gene Symbol:	HES7

HES7

0.100

Biomarker

phenotype

HPO