DisGeNET - a database of gene-disease associations

Advanced bone age, C0545053

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:	23512
Gene Symbol:	SUZ12

SUZ12

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.

2019

Entrez Id:	23512
Gene Symbol:	SUZ12

SUZ12

0.400

Biomarker

phenotype

HPO

Entrez Id:	3643
Gene Symbol:	INSR

INSR

0.100

Biomarker

phenotype

HPO

Entrez Id:	6885
Gene Symbol:	MAP3K7

MAP3K7

0.100

Biomarker

phenotype

HPO

Entrez Id:	6023
Gene Symbol:	RMRP

RMRP

0.100

Biomarker

phenotype

HPO

Entrez Id:	6595
Gene Symbol:	SMARCA2

SMARCA2

0.100

Biomarker

phenotype

HPO

Entrez Id:	372
Gene Symbol:	ARCN1

ARCN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3008
Gene Symbol:	H1-4

H1-4

0.100

Biomarker

phenotype

HPO

Entrez Id:	11285
Gene Symbol:	B4GALT7

B4GALT7

0.100

Biomarker

phenotype

HPO

Entrez Id:	7253
Gene Symbol:	TSHR

TSHR

0.100

Biomarker

phenotype

HPO

Entrez Id:	26580
Gene Symbol:	BSCL2

BSCL2

0.100

Biomarker

phenotype

HPO

Entrez Id:	4784
Gene Symbol:	NFIX

NFIX

0.100

Biomarker

phenotype

HPO

Entrez Id:	105259599
Gene Symbol:	H19-ICR

H19-ICR

0.100

Biomarker

phenotype

HPO

Entrez Id:	3973
Gene Symbol:	LHCGR

LHCGR

0.100

Biomarker

phenotype

HPO

Entrez Id:	7681
Gene Symbol:	MKRN3

MKRN3

0.100

Biomarker

phenotype

HPO

Entrez Id:	83550
Gene Symbol:	GPR101

GPR101

0.100

Biomarker

phenotype

HPO

Entrez Id:	1584
Gene Symbol:	CYP11B1

CYP11B1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23169
Gene Symbol:	SLC35D1

SLC35D1

0.100

Biomarker

phenotype

HPO

Entrez Id:	284119
Gene Symbol:	CAVIN1

CAVIN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1028
Gene Symbol:	CDKN1C

CDKN1C

0.100

Biomarker

phenotype

HPO

Entrez Id:	3952
Gene Symbol:	LEP

LEP

0.100

Biomarker

phenotype

HPO

Entrez Id:	1588
Gene Symbol:	CYP19A1

CYP19A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

0.100

Biomarker

phenotype

HPO

Entrez Id:	2879
Gene Symbol:	GPX4

GPX4

0.100

Biomarker

phenotype

HPO

Entrez Id:	4158
Gene Symbol:	MC2R

MC2R

0.100

Biomarker

phenotype

HPO