DisGeNET - a database of gene-disease associations

Bulbous nose, C0240543

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:	55777
Gene Symbol:	MBD5

MBD5

0.100

Biomarker

phenotype

HPO

Entrez Id:	3756
Gene Symbol:	KCNH1

KCNH1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1302
Gene Symbol:	COL11A2

COL11A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

0.100

Biomarker

phenotype

HPO

Entrez Id:	9853
Gene Symbol:	RUSC2

RUSC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	8239
Gene Symbol:	USP9X

USP9X

0.100

Biomarker

phenotype

HPO

Entrez Id:	6492
Gene Symbol:	SIM1

SIM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2131
Gene Symbol:	EXT1

EXT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	285175
Gene Symbol:	UNC80

UNC80

0.100

Biomarker

phenotype

HPO

Entrez Id:	6239
Gene Symbol:	RREB1

RREB1

0.100

Biomarker

phenotype

HPO

Entrez Id:	22808
Gene Symbol:	MRAS

MRAS

0.100

Biomarker

phenotype

HPO

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

0.100

Biomarker

phenotype

HPO

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

0.100

Biomarker

phenotype

HPO

Entrez Id:	6309
Gene Symbol:	SC5D

SC5D

0.100

Biomarker

phenotype

HPO

Entrez Id:	23389
Gene Symbol:	MED13L

MED13L

0.100

Biomarker

phenotype

HPO

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23314
Gene Symbol:	SATB2

SATB2

0.100

Biomarker

phenotype

HPO

Entrez Id:	23522
Gene Symbol:	KAT6B

KAT6B

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

0.100

Biomarker

phenotype

HPO

Entrez Id:	1889
Gene Symbol:	ECE1

ECE1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1822
Gene Symbol:	ATN1

ATN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4313
Gene Symbol:	MMP2

MMP2

0.100

Biomarker

phenotype

HPO

Entrez Id:	9820
Gene Symbol:	CUL7

CUL7

0.100

GeneticVariation

phenotype

CLINVAR

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

2019