DisGeNET - a database of gene-disease associations

Petechiae of skin, C0241144

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:	3717
Gene Symbol:	JAK2

JAK2

0.110

GeneticVariation

phenotype

BEFREE

A 70-year-old woman with a five-year history of ET with JAK2 V617F mutation treated with hydroxycarbamide for five months presented with petechiae on her limbs.

2019

Entrez Id:	3717
Gene Symbol:	JAK2

JAK2

0.110

Biomarker

phenotype

HPO

Entrez Id:	2812
Gene Symbol:	GP1BB

GP1BB

0.100

Biomarker

phenotype

HPO

Entrez Id:	5573
Gene Symbol:	PRKAR1A

PRKAR1A

0.100

Biomarker

phenotype

HPO

Entrez Id:	1186
Gene Symbol:	CLCN7

CLCN7

0.100

Biomarker

phenotype

HPO

Entrez Id:	1289
Gene Symbol:	COL5A1

COL5A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3673
Gene Symbol:	ITGA2

ITGA2

0.100

Biomarker

phenotype

HPO

Entrez Id:	4926
Gene Symbol:	NUMA1

NUMA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	81608
Gene Symbol:	FIP1L1

FIP1L1

0.100

Biomarker

phenotype

HPO

Entrez Id:	11277
Gene Symbol:	TREX1

TREX1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4352
Gene Symbol:	MPL

MPL

0.100

Biomarker

phenotype

HPO

Entrez Id:	4869
Gene Symbol:	NPM1

NPM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6777
Gene Symbol:	STAT5B

STAT5B

0.100

Biomarker

phenotype

HPO

Entrez Id:	11274
Gene Symbol:	USP18

USP18

0.100

Biomarker

phenotype

HPO

Entrez Id:	2815
Gene Symbol:	GP9

GP9

0.100

Biomarker

phenotype

HPO

Entrez Id:	1290
Gene Symbol:	COL5A2

COL5A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	7456
Gene Symbol:	WIPF1

WIPF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2623
Gene Symbol:	GATA1

GATA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23474
Gene Symbol:	ETHE1

ETHE1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9103
Gene Symbol:	FCGR2C

FCGR2C

0.100

Biomarker

phenotype

HPO

Entrez Id:	2120
Gene Symbol:	ETV6

ETV6

0.100

Biomarker

phenotype

HPO

Entrez Id:	8328
Gene Symbol:	GFI1B

GFI1B

0.100

Biomarker

phenotype

HPO

Entrez Id:	100506658
Gene Symbol:	OCLN

OCLN

0.100

Biomarker

phenotype

HPO

Entrez Id:	5873
Gene Symbol:	RAB27A

RAB27A

0.100

Biomarker

phenotype

HPO

Entrez Id:	2811
Gene Symbol:	GP1BA

GP1BA

0.100

Biomarker

phenotype

HPO