DisGeNET - a database of gene-disease associations

Stroke-like episode, C1857287

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:	478
Gene Symbol:	ATP1A3

ATP1A3

0.100

CausalMutation

phenotype

CLINVAR

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

2016

Entrez Id:	4578
Gene Symbol:	TRNW

TRNW

0.100

Biomarker

phenotype

HPO

Entrez Id:	91869
Gene Symbol:	RFT1

RFT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4535
Gene Symbol:	ND1

ND1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4574
Gene Symbol:	TRNS1

TRNS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4511
Gene Symbol:	TRNC

TRNC

0.100

Biomarker

phenotype

HPO

Entrez Id:	4566
Gene Symbol:	TRNK

TRNK

0.100

Biomarker

phenotype

HPO

Entrez Id:	4540
Gene Symbol:	ND5

ND5

0.100

Biomarker

phenotype

HPO

Entrez Id:	5373
Gene Symbol:	PMM2

PMM2

0.100

Biomarker

phenotype

HPO

Entrez Id:	4541
Gene Symbol:	ND6

ND6

0.100

Biomarker

phenotype

HPO

Entrez Id:	4538
Gene Symbol:	ND4

ND4

0.100

Biomarker

phenotype

HPO

Entrez Id:	54344
Gene Symbol:	DPM3

DPM3

0.100

Biomarker

phenotype

HPO

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	4577
Gene Symbol:	TRNV

TRNV

0.100

Biomarker

phenotype

HPO

Entrez Id:	4514
Gene Symbol:	COX3

COX3

0.100

Biomarker

phenotype

HPO

Entrez Id:	4572
Gene Symbol:	TRNQ

TRNQ

0.100

Biomarker

phenotype

HPO

Entrez Id:	4512
Gene Symbol:	COX1

COX1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4519
Gene Symbol:	CYTB

CYTB

0.100

Biomarker

phenotype

HPO

Entrez Id:	7276
Gene Symbol:	TTR

TTR

0.100

Biomarker

phenotype

HPO

Entrez Id:	4575
Gene Symbol:	TRNS2

TRNS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	4564
Gene Symbol:	TRNH

TRNH

0.100

Biomarker

phenotype

HPO

Entrez Id:	5621
Gene Symbol:	PRNP

PRNP

0.100

Biomarker

phenotype

HPO

Entrez Id:	4513
Gene Symbol:	COX2

COX2

0.100

Biomarker

phenotype

HPO

Entrez Id:	4558
Gene Symbol:	TRNF

TRNF

0.100

Biomarker

phenotype

HPO