DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Short toe ×

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:	9896
Gene Symbol:	FIG4

FIG4

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	4882
Gene Symbol:	NPR2

NPR2

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	25782
Gene Symbol:	RAB3GAP2

RAB3GAP2

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	1513
Gene Symbol:	CTSK

CTSK

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	2697
Gene Symbol:	GJA1

GJA1

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	3039
Gene Symbol:	HBA1

HBA1

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	113246
Gene Symbol:	C12orf57

C12orf57

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	50945
Gene Symbol:	TBX22

TBX22

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	9509
Gene Symbol:	ADAMTS2

ADAMTS2

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	8200
Gene Symbol:	GDF5

GDF5

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	100
Gene Symbol:	ADA

ADA

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	4613
Gene Symbol:	MYCN

MYCN

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	650
Gene Symbol:	BMP2

BMP2

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	54928
Gene Symbol:	IMPAD1

IMPAD1

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	3040
Gene Symbol:	HBA2

HBA2

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	171023
Gene Symbol:	ASXL1

ASXL1

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	10262
Gene Symbol:	SF3B4

SF3B4

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	5897
Gene Symbol:	RAG2

RAG2

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	64421
Gene Symbol:	DCLRE1C

DCLRE1C

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO

Entrez Id:	4853
Gene Symbol:	NOTCH2

NOTCH2

CUI:	C1836195
Disease:	Short toe

Short toe

0.100

Biomarker

HPO