DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Short stature ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	22821
Gene Symbol:	RASA3

RASA3

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

CausalMutation

CLINVAR

Entrez Id:	10479
Gene Symbol:	SLC9A6

SLC9A6

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	57215
Gene Symbol:	THAP11

THAP11

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	2137
Gene Symbol:	EXTL3

EXTL3

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	51230
Gene Symbol:	PHF20

PHF20

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	3750
Gene Symbol:	KCND1

KCND1

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	28981
Gene Symbol:	IFT81

IFT81

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	577
Gene Symbol:	ADGRB3

ADGRB3

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	6016
Gene Symbol:	RIT1

RIT1

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	5979
Gene Symbol:	RET

RET

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

CausalMutation

CLINVAR

Entrez Id:	9321
Gene Symbol:	TRIP11

TRIP11

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

CausalMutation

CLINVAR

Entrez Id:	83452
Gene Symbol:	RAB33B

RAB33B

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	5434
Gene Symbol:	POLR2E

POLR2E

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

CausalMutation

CLINVAR

Entrez Id:	158880
Gene Symbol:	USP51

USP51

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

CausalMutation

CLINVAR

Entrez Id:	10443
Gene Symbol:	N4BP2L2

N4BP2L2

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

CausalMutation

CLINVAR

Entrez Id:	2778
Gene Symbol:	GNAS

GNAS

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

CausalMutation

CLINVAR

Entrez Id:	64207
Gene Symbol:	IRF2BPL

IRF2BPL

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	4613
Gene Symbol:	MYCN

MYCN

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

CausalMutation

CLINVAR

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

CausalMutation

CLINVAR

Entrez Id:	2690
Gene Symbol:	GHR

GHR

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

CausalMutation

CLINVAR

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	374393
Gene Symbol:	FAM111B

FAM111B

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR

Entrez Id:	22821
Gene Symbol:	RASA3

RASA3

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

GeneticVariation

CLINVAR