DisGeNET - a database of gene-disease associations

Smooth philtrum, C1142533

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1555743003

rs1555743003

ASXL3

A

0.700

CausalMutation

CLINVAR

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

2016

dbSNP:

rs113871094

rs113871094

FBN1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554888939

rs1554888939

EHMT1

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1557781252

rs1557781252

GATAD2B

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs312262690

rs312262690

ANTXR2

AG

0.700

CausalMutation

CLINVAR

dbSNP:

rs373145711

rs373145711

ASXL1

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397507520

rs397507520

PTPN11

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs398123009

rs398123009

PACS1

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs866294686

rs866294686

TRIM8 ; LOC105378460

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs886040971

rs886040971

TRPS1

A

0.700

CausalMutation

CLINVAR