DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Short metatarsal ×

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:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	8200
Gene Symbol:	GDF5

GDF5

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	5744
Gene Symbol:	PTHLH

PTHLH

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	5573
Gene Symbol:	PRKAR1A

PRKAR1A

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	25839
Gene Symbol:	COG4

COG4

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	25886
Gene Symbol:	POC1A

POC1A

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	2778
Gene Symbol:	GNAS

GNAS

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	51098
Gene Symbol:	IFT52

IFT52

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	3516
Gene Symbol:	RBPJ

RBPJ

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	64840
Gene Symbol:	PORCN

PORCN

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	2317
Gene Symbol:	FLNB

FLNB

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	64374
Gene Symbol:	SIL1

SIL1

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	658
Gene Symbol:	BMPR1B

BMPR1B

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	124583
Gene Symbol:	CANT1

CANT1

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	4882
Gene Symbol:	NPR2

NPR2

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	6885
Gene Symbol:	MAP3K7

MAP3K7

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	6595
Gene Symbol:	SMARCA2

SMARCA2

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	83452
Gene Symbol:	RAB33B

RAB33B

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	22856
Gene Symbol:	CHSY1

CHSY1

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	157680
Gene Symbol:	VPS13B

VPS13B

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

CUI:	C1849020
Disease:	Short metatarsal

Short metatarsal

0.100

Biomarker

HPO