DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Broad thumbs ×

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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:	80816
Gene Symbol:	ASXL3

ASXL3

CUI:	C0426891
Disease:	Broad thumbs

Broad thumbs

0.100

CausalMutation

CLINVAR

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

2016

Entrez Id:	9968
Gene Symbol:	MED12

MED12

CUI:	C0426891
Disease:	Broad thumbs

Broad thumbs

0.100

CausalMutation

CLINVAR

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

CUI:	C0426891
Disease:	Broad thumbs

Broad thumbs

0.100

CausalMutation

CLINVAR

Entrez Id:	57190
Gene Symbol:	SELENON

SELENON

CUI:	C0426891
Disease:	Broad thumbs

Broad thumbs

0.100

GeneticVariation

CLINVAR

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0426891
Disease:	Broad thumbs

Broad thumbs

0.100

CausalMutation

CLINVAR

Entrez Id:	86
Gene Symbol:	ACTL6A

ACTL6A

CUI:	C0426891
Disease:	Broad thumbs

Broad thumbs

0.100

GeneticVariation

CLINVAR

Entrez Id:	79813
Gene Symbol:	EHMT1

EHMT1

CUI:	C0426891
Disease:	Broad thumbs

Broad thumbs

0.100

GeneticVariation

CLINVAR

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0426891
Disease:	Broad thumbs

Broad thumbs

0.100

CausalMutation

CLINVAR

Entrez Id:	867
Gene Symbol:	CBL

CBL

CUI:	C0426891
Disease:	Broad thumbs

Broad thumbs

0.100

GeneticVariation

CLINVAR