DisGeNET - a database of gene-disease associations

Short ribs, C0426817

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:	79659
Gene Symbol:	DYNC2H1

DYNC2H1

0.100

GeneticVariation

phenotype

CLINVAR

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

2016

Entrez Id:	2737
Gene Symbol:	GLI3

GLI3

0.100

Biomarker

phenotype

HPO

Entrez Id:	5745
Gene Symbol:	PTH1R

PTH1R

0.100

Biomarker

phenotype

HPO

Entrez Id:	132884
Gene Symbol:	EVC2

EVC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	64840
Gene Symbol:	PORCN

PORCN

0.100

Biomarker

phenotype

HPO

Entrez Id:	26005
Gene Symbol:	C2CD3

C2CD3

0.100

Biomarker

phenotype

HPO

Entrez Id:	9820
Gene Symbol:	CUL7

CUL7

0.100

Biomarker

phenotype

HPO

Entrez Id:	79659
Gene Symbol:	DYNC2H1

DYNC2H1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3636
Gene Symbol:	INPPL1

INPPL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	79158
Gene Symbol:	GNPTAB

GNPTAB

0.100

Biomarker

phenotype

HPO

Entrez Id:	55697
Gene Symbol:	VAC14

VAC14

0.100

Biomarker

phenotype

HPO

Entrez Id:	57728
Gene Symbol:	WDR19

WDR19

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	57539
Gene Symbol:	WDR35

WDR35

0.100

Biomarker

phenotype

HPO

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

0.100

Biomarker

phenotype

HPO

Entrez Id:	2121
Gene Symbol:	EVC

EVC

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	9896
Gene Symbol:	FIG4

FIG4

0.100

Biomarker

phenotype

HPO

Entrez Id:	4750
Gene Symbol:	NEK1

NEK1

0.100

Biomarker

phenotype

HPO

Entrez Id:	26160
Gene Symbol:	IFT172

IFT172

0.100

Biomarker

phenotype

HPO

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	83452
Gene Symbol:	RAB33B

RAB33B

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	2121
Gene Symbol:	EVC

EVC

0.100

Biomarker

phenotype

HPO

Entrez Id:	79809
Gene Symbol:	TTC21B

TTC21B

0.100

Biomarker

phenotype

HPO

Entrez Id:	55764
Gene Symbol:	IFT122

IFT122

0.100

Biomarker

phenotype

HPO

Entrez Id:	579
Gene Symbol:	NKX3-2

NKX3-2

0.100

Biomarker

phenotype

HPO

Entrez Id:	1836
Gene Symbol:	SLC26A2

SLC26A2

0.100

Biomarker

phenotype

HPO