DisGeNET - a database of gene-disease associations

Short stature, C0349588

The Variant filter does not apply in GDA tabs

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:	577
Gene Symbol:	ADGRB3

ADGRB3

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	23394
Gene Symbol:	ADNP

ADNP

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	23394
Gene Symbol:	ADNP

ADNP

0.100

Biomarker

phenotype

HPO

Entrez Id:	2334
Gene Symbol:	AFF2

AFF2

0.100

Biomarker

phenotype

HPO

Entrez Id:	3899
Gene Symbol:	AFF3

AFF3

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	27125
Gene Symbol:	AFF4

AFF4

0.100

Biomarker

phenotype

HPO

Entrez Id:	175
Gene Symbol:	AGA

AGA

0.100

Biomarker

phenotype

HPO

Entrez Id:	178
Gene Symbol:	AGL

AGL

0.100

Biomarker

phenotype

HPO

Entrez Id:	27245
Gene Symbol:	AHDC1

AHDC1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	197
Gene Symbol:	AHSG

AHSG

0.100

Biomarker

phenotype

HPO

Entrez Id:	7965
Gene Symbol:	AIMP2

AIMP2

0.100

Biomarker

phenotype

HPO

Entrez Id:	207
Gene Symbol:	AKT1

AKT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	226
Gene Symbol:	ALDOA

ALDOA

0.100

Biomarker

phenotype

HPO

Entrez Id:	7840
Gene Symbol:	ALMS1

ALMS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	242
Gene Symbol:	ALOX12B

ALOX12B

0.100

Biomarker

phenotype

HPO

Entrez Id:	59344
Gene Symbol:	ALOXE3

ALOXE3

0.100

Biomarker

phenotype

HPO

Entrez Id:	249
Gene Symbol:	ALPL

ALPL

0.100

Biomarker

phenotype

HPO

Entrez Id:	139285
Gene Symbol:	AMER1

AMER1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9949
Gene Symbol:	AMMECR1

AMMECR1

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.

2017

Entrez Id:	9949
Gene Symbol:	AMMECR1

AMMECR1

0.400

CausalMutation

phenotype

CLINVAR

Entrez Id:	9949
Gene Symbol:	AMMECR1

AMMECR1

0.400

Biomarker

phenotype

HPO

Entrez Id:	271
Gene Symbol:	AMPD2

AMPD2

0.100

Biomarker

phenotype

HPO

Entrez Id:	286
Gene Symbol:	ANK1

ANK1

0.100

Biomarker

phenotype

HPO