DisGeNET - a database of gene-disease associations

Broad thumbs, C0426891

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:	80816
Gene Symbol:	ASXL3

ASXL3

0.100

CausalMutation

phenotype

CLINVAR

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

2016

Entrez Id:	3981
Gene Symbol:	LIG4

LIG4

0.100

Biomarker

phenotype

HPO

Entrez Id:	3756
Gene Symbol:	KCNH1

KCNH1

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:	2702
Gene Symbol:	GJA5

GJA5

0.100

Biomarker

phenotype

HPO

Entrez Id:	2254
Gene Symbol:	FGF9

FGF9

0.100

Biomarker

phenotype

HPO

Entrez Id:	51132
Gene Symbol:	RLIM

RLIM

0.100

Biomarker

phenotype

HPO

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

0.100

Biomarker

phenotype

HPO

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

0.100

Biomarker

phenotype

HPO

Entrez Id:	6608
Gene Symbol:	SMO

SMO

0.100

Biomarker

phenotype

HPO

Entrez Id:	79753
Gene Symbol:	SNIP1

SNIP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1954
Gene Symbol:	MEGF8

MEGF8

0.100

Biomarker

phenotype

HPO

Entrez Id:	6299
Gene Symbol:	SALL1

SALL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9968
Gene Symbol:	MED12

MED12

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	51633
Gene Symbol:	OTUD6B

OTUD6B

0.100

Biomarker

phenotype

HPO

Entrez Id:	285362
Gene Symbol:	SUMF1

SUMF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9241
Gene Symbol:	NOG

NOG

0.100

Biomarker

phenotype

HPO

Entrez Id:	2626
Gene Symbol:	GATA4

GATA4

0.100

Biomarker

phenotype

HPO

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	57190
Gene Symbol:	SELENON

SELENON

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

0.100

Biomarker

phenotype

HPO

Entrez Id:	650
Gene Symbol:	BMP2

BMP2

0.100

Biomarker

phenotype

HPO

Entrez Id:	51339
Gene Symbol:	DACT1

DACT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	64093
Gene Symbol:	SMOC1

SMOC1

0.100

Biomarker

phenotype

HPO