DisGeNET - a database of gene-disease associations

Large hand, C0426870

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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:	10060
Gene Symbol:	ABCC9

ABCC9

0.100

Biomarker

phenotype

HPO

Entrez Id:	10555
Gene Symbol:	AGPAT2

AGPAT2

0.100

Biomarker

phenotype

HPO

Entrez Id:	9049
Gene Symbol:	AIP

AIP

0.100

Biomarker

phenotype

HPO

Entrez Id:	440
Gene Symbol:	ASNS

ASNS

0.100

Biomarker

phenotype

HPO

Entrez Id:	26580
Gene Symbol:	BSCL2

BSCL2

0.100

Biomarker

phenotype

HPO

Entrez Id:	857
Gene Symbol:	CAV1

CAV1

0.100

Biomarker

phenotype

HPO

Entrez Id:	284119
Gene Symbol:	CAVIN1

CAVIN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10522
Gene Symbol:	DEAF1

DEAF1

0.100

GeneticVariation

phenotype

CLINVAR

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

2017

Entrez Id:	8726
Gene Symbol:	EED

EED

0.100

Biomarker

phenotype

HPO

Entrez Id:	8726
Gene Symbol:	EED

EED

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

0.100

Biomarker

phenotype

HPO

Entrez Id:	9158
Gene Symbol:	FIBP

FIBP

0.100

Biomarker

phenotype

HPO

Entrez Id:	9158
Gene Symbol:	FIBP

FIBP

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	2353
Gene Symbol:	FOS

FOS

0.100

Biomarker

phenotype

HPO

Entrez Id:	83550
Gene Symbol:	GPR101

GPR101

0.100

Biomarker

phenotype

HPO

Entrez Id:	8925
Gene Symbol:	HERC1

HERC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3643
Gene Symbol:	INSR

INSR

0.100

Biomarker

phenotype

HPO

Entrez Id:	8242
Gene Symbol:	KDM5C

KDM5C

0.100

Biomarker

phenotype

HPO

Entrez Id:	3815
Gene Symbol:	KIT

KIT

0.100

Biomarker

phenotype

HPO

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	55690
Gene Symbol:	PACS1

PACS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

0.100

Biomarker

phenotype

HPO

Entrez Id:	23133
Gene Symbol:	PHF8

PHF8

0.100

Biomarker

phenotype

HPO

Entrez Id:	26227
Gene Symbol:	PHGDH

PHGDH

0.100

Biomarker

phenotype

HPO