DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Short stature ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	144568
Gene Symbol:	A2ML1

A2ML1

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	8086
Gene Symbol:	AAAS

AAAS

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	16
Gene Symbol:	AARS1

AARS1

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	10157
Gene Symbol:	AASS

AASS

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	26154
Gene Symbol:	ABCA12

ABCA12

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	51099
Gene Symbol:	ABHD5

ABHD5

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	25
Gene Symbol:	ABL1

ABL1

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

CausalMutation

CLINVAR

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

2017

Entrez Id:	25
Gene Symbol:	ABL1

ABL1

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	176
Gene Symbol:	ACAN

ACAN

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	65057
Gene Symbol:	ACD

ACD

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	55331
Gene Symbol:	ACER3

ACER3

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	54
Gene Symbol:	ACP5

ACP5

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	58
Gene Symbol:	ACTA1

ACTA1

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	60
Gene Symbol:	ACTB

ACTB

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	51412
Gene Symbol:	ACTL6B

ACTL6B

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	51816
Gene Symbol:	ADA2

ADA2

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	81794
Gene Symbol:	ADAMTS10

ADAMTS10

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	170691
Gene Symbol:	ADAMTS17

ADAMTS17

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	9509
Gene Symbol:	ADAMTS2

ADAMTS2

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	9719
Gene Symbol:	ADAMTSL2

ADAMTSL2

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	103
Gene Symbol:	ADAR

ADAR

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	113179
Gene Symbol:	ADAT3

ADAT3

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO