DisGeNET - a database of gene-disease associations

Growth abnormality, C0262361

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Source: ALL

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	176
Gene Symbol:	ACAN

ACAN

0.100

Biomarker

phenotype

HPO

Entrez Id:	367
Gene Symbol:	AR

0.100

Biomarker

phenotype

HPO

Entrez Id:	593
Gene Symbol:	BCKDHA

BCKDHA

0.100

Biomarker

phenotype

HPO

Entrez Id:	594
Gene Symbol:	BCKDHB

BCKDHB

0.100

Biomarker

phenotype

HPO

Entrez Id:	815
Gene Symbol:	CAMK2A

CAMK2A

0.100

CausalMutation

phenotype

CLINVAR

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

29100089

2017

Entrez Id:	816
Gene Symbol:	CAMK2B

CAMK2B

0.100

CausalMutation

phenotype

CLINVAR

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

29100089

2017

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4512
Gene Symbol:	COX1

COX1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4513
Gene Symbol:	COX2

COX2

0.100

Biomarker

phenotype

HPO

Entrez Id:	4514
Gene Symbol:	COX3

COX3

0.100

Biomarker

phenotype

HPO

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

0.100

Biomarker

phenotype

HPO

Entrez Id:	1589
Gene Symbol:	CYP21A2

CYP21A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	4519
Gene Symbol:	CYTB

CYTB

0.100

Biomarker

phenotype

HPO

Entrez Id:	1629
Gene Symbol:	DBT

DBT

0.100

Biomarker

phenotype

HPO

Entrez Id:	129563
Gene Symbol:	DIS3L2

DIS3L2

0.100

Biomarker

phenotype

HPO

Entrez Id:	253738
Gene Symbol:	EBF3

EBF3

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	1991
Gene Symbol:	ELANE

ELANE

0.100

Biomarker

phenotype

HPO

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2799
Gene Symbol:	GNS

GNS

0.100

Biomarker

phenotype

HPO

Entrez Id:	3081
Gene Symbol:	HGD

HGD

0.100

Biomarker

phenotype

HPO

Entrez Id:	138050
Gene Symbol:	HGSNAT

HGSNAT

0.100

Biomarker

phenotype

HPO

Entrez Id:	3756
Gene Symbol:	KCNH1

KCNH1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

0.100

Biomarker

phenotype

HPO