DisGeNET - a database of gene-disease associations

Large hand, C0426870

The Variant filter does not apply in GDA tabs

Source: ALL

Results per page

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:	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:	100151683
Gene Symbol:	RNU4ATAC

RNU4ATAC

0.100

Biomarker

phenotype

HPO

Entrez Id:	10555
Gene Symbol:	AGPAT2

AGPAT2

0.100

Biomarker

phenotype

HPO

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

0.100

Biomarker

phenotype

HPO

Entrez Id:	8726
Gene Symbol:	EED

EED

0.100

Biomarker

phenotype

HPO

Entrez Id:	6197
Gene Symbol:	RPS6KA3

RPS6KA3

0.100

Biomarker

phenotype

HPO

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	26580
Gene Symbol:	BSCL2

BSCL2

0.100

Biomarker

phenotype

HPO

Entrez Id:	23512
Gene Symbol:	SUZ12

SUZ12

0.100

Biomarker

phenotype

HPO

Entrez Id:	8242
Gene Symbol:	KDM5C

KDM5C

0.100

Biomarker

phenotype

HPO

Entrez Id:	3643
Gene Symbol:	INSR

INSR

0.100

Biomarker

phenotype

HPO

Entrez Id:	6390
Gene Symbol:	SDHB

SDHB

0.100

Biomarker

phenotype

HPO

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

0.100

Biomarker

phenotype

HPO

Entrez Id:	6872
Gene Symbol:	TAF1

TAF1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	8925
Gene Symbol:	HERC1

HERC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9487
Gene Symbol:	PIGL

PIGL

0.100

Biomarker

phenotype

HPO

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

0.100

Biomarker

phenotype

HPO

Entrez Id:	5468
Gene Symbol:	PPARG

PPARG

0.100

Biomarker

phenotype

HPO

Entrez Id:	9049
Gene Symbol:	AIP

AIP

0.100

Biomarker

phenotype

HPO

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

0.100

Biomarker

phenotype

HPO

Entrez Id:	11128
Gene Symbol:	POLR3A

POLR3A

0.100

Biomarker

phenotype

HPO

Entrez Id:	8726
Gene Symbol:	EED

EED

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	3815
Gene Symbol:	KIT

KIT

0.100

Biomarker

phenotype

HPO

Entrez Id:	284119
Gene Symbol:	CAVIN1

CAVIN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	55690
Gene Symbol:	PACS1

PACS1

0.100

Biomarker

phenotype

HPO