DisGeNET - a database of gene-disease associations

Source: CLINVAR

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	85015
Gene Symbol:	USP45

USP45

ubiquitin specific peptidase 45

0.792

0.154

1.4E-17

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	1801
Gene Symbol:	DPH1

DPH1

diphthamide biosynthesis 1

0.653

0.538

8.0E-17

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	1161
Gene Symbol:	ERCC8

ERCC8

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

0.551

0.885

2.8E-15

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	54496
Gene Symbol:	PRMT7

PRMT7

protein arginine methyltransferase 7

0.674

0.538

5.5E-15

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	10998
Gene Symbol:	SLC27A5

SLC27A5

solute carrier family 27 member 5

0.563

0.769

8.4E-15

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	5834
Gene Symbol:	PYGB

PYGB

glycogen phosphorylase B

0.792

0.308

1.4E-14

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	80201
Gene Symbol:	HKDC1

HKDC1

hexokinase domain containing 1

0.743

0.269

1.6E-14

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	84910
Gene Symbol:	TMEM87B

TMEM87B

transmembrane protein 87B

0.861

0.115

3.7E-13

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

1.000

2016

Entrez Id:	9427
Gene Symbol:	ECEL1

ECEL1

endothelin converting enzyme like 1

0.638

0.308

4.8E-13

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	9321
Gene Symbol:	TRIP11

TRIP11

thyroid hormone receptor interactor 11

0.595

0.654

1.7E-12

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	220001
Gene Symbol:	VWCE

VWCE

von Willebrand factor C and EGF domains

0.751

0.231

3.1E-12

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	28981
Gene Symbol:	IFT81

IFT81

intraflagellar transport 81

0.700

0.385

9.1E-12

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	1047
Gene Symbol:	CLGN

CLGN

calmegin

0.839

0.115

1.3E-11

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	5393
Gene Symbol:	EXOSC9

EXOSC9

exosome component 9

0.705

0.423

1.8E-11

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	9862
Gene Symbol:	MED24

MED24

mediator complex subunit 24

0.931

0.192

3.3E-11

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	22821
Gene Symbol:	RASA3

RASA3

RAS p21 protein activator 3

0.769

0.308

1.9E-10

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	55253
Gene Symbol:	TYW1

TYW1

tRNA-yW synthesizing protein 1 homolog

0.890

2.0E-10

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	10443
Gene Symbol:	N4BP2L2

N4BP2L2

NEDD4 binding protein 2 like 2

0.780

0.231

1.3E-09

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	5428
Gene Symbol:	POLG

POLG

DNA polymerase gamma, catalytic subunit

0.457

0.846

2.1E-09

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

1.000

2010

2011

Entrez Id:	11180
Gene Symbol:	WDR6

WDR6

WD repeat domain 6

2.1E-09

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	79641
Gene Symbol:	ROGDI

ROGDI

rogdi atypical leucine zipper

0.663

0.462

2.6E-09

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	25839
Gene Symbol:	COG4

COG4

component of oligomeric golgi complex 4

0.631

0.615

4.0E-09

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	79959
Gene Symbol:	CEP76

CEP76

centrosomal protein 76

4.5E-09

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	5476
Gene Symbol:	CTSA

CTSA

cathepsin A

0.619

0.731

5.9E-09

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

1.000

1996

2014

Entrez Id:	5434
Gene Symbol:	POLR2E

POLR2E

RNA polymerase II subunit E

0.736

0.192

7.2E-09

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None