DisGeNET - a database of gene-disease associations

Convex nasal ridge, C0240538

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:	9024
Gene Symbol:	BRSK2

BRSK2

0.100

CausalMutation

phenotype

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

2019

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:	197131
Gene Symbol:	UBR1

UBR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1487
Gene Symbol:	CTBP1

CTBP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	81031
Gene Symbol:	SLC2A10

SLC2A10

0.100

Biomarker

phenotype

HPO

Entrez Id:	157680
Gene Symbol:	VPS13B

VPS13B

0.100

Biomarker

phenotype

HPO

Entrez Id:	5184
Gene Symbol:	PEPD

PEPD

0.100

Biomarker

phenotype

HPO

Entrez Id:	7486
Gene Symbol:	WRN

WRN

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	6905
Gene Symbol:	TBCE

TBCE

0.100

Biomarker

phenotype

HPO

Entrez Id:	22995
Gene Symbol:	CEP152

CEP152

0.100

Biomarker

phenotype

HPO

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	79813
Gene Symbol:	EHMT1

EHMT1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	79796
Gene Symbol:	ALG9

ALG9

0.100

Biomarker

phenotype

HPO

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	11128
Gene Symbol:	POLR3A

POLR3A

0.100

Biomarker

phenotype

HPO

Entrez Id:	1062
Gene Symbol:	CENPE

CENPE

0.100

Biomarker

phenotype

HPO

Entrez Id:	171023
Gene Symbol:	ASXL1

ASXL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4000
Gene Symbol:	LMNA

LMNA

0.100

Biomarker

phenotype

HPO

Entrez Id:	3954
Gene Symbol:	LETM1

LETM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	55835
Gene Symbol:	CENPJ

CENPJ

0.100

Biomarker

phenotype

HPO

Entrez Id:	538
Gene Symbol:	ATP7A

ATP7A

0.100

Biomarker

phenotype

HPO

Entrez Id:	113246
Gene Symbol:	C12orf57

C12orf57

0.100

Biomarker

phenotype

HPO

Entrez Id:	51360
Gene Symbol:	MBTPS2

MBTPS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2077
Gene Symbol:	ERF

ERF

0.100

Biomarker

phenotype

HPO

Entrez Id:	7486
Gene Symbol:	WRN

WRN

0.100

Biomarker

phenotype

HPO