DisGeNET - a database of gene-disease associations

Source: HPO

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:	54517
Gene Symbol:	PUS7

PUS7

CUI:	C0349588
Disease:	Short stature

Short stature

0.400

Biomarker

HPO

Entrez Id:	26224
Gene Symbol:	FBXL3

FBXL3

CUI:	C0349588
Disease:	Short stature

Short stature

0.400

Biomarker

HPO

Entrez Id:	9775
Gene Symbol:	EIF4A3

EIF4A3

CUI:	C0349588
Disease:	Short stature

Short stature

0.400

Biomarker

HPO

Entrez Id:	345895
Gene Symbol:	RSPH4A

RSPH4A

CUI:	C0349588
Disease:	Short stature

Short stature

0.400

Biomarker

HPO

Entrez Id:	9949
Gene Symbol:	AMMECR1

AMMECR1

CUI:	C0349588
Disease:	Short stature

Short stature

0.400

Biomarker

HPO

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	54476
Gene Symbol:	RNF216

RNF216

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	79048
Gene Symbol:	SECISBP2

SECISBP2

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	2629
Gene Symbol:	GBA

GBA

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	6557
Gene Symbol:	SLC12A1

SLC12A1

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	89910
Gene Symbol:	UBE3B

UBE3B

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	123016
Gene Symbol:	TTC8

TTC8

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	128674
Gene Symbol:	PROKR2

PROKR2

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	89884
Gene Symbol:	LHX4

LHX4

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	57697
Gene Symbol:	FANCM

FANCM

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	3835
Gene Symbol:	KIF22

KIF22

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	1588
Gene Symbol:	CYP19A1

CYP19A1

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	2542
Gene Symbol:	SLC37A4

SLC37A4

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	55630
Gene Symbol:	SLC39A4

SLC39A4

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	58484
Gene Symbol:	NLRC4

NLRC4

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	4621
Gene Symbol:	MYH3

MYH3

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	8260
Gene Symbol:	NAA10

NAA10

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	2178
Gene Symbol:	FANCE

FANCE

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO

Entrez Id:	7849
Gene Symbol:	PAX8

PAX8

CUI:	C0349588
Disease:	Short stature

Short stature

0.100

Biomarker

HPO