DisGeNET - a database of gene-disease associations

Reduced visual acuity, C0234632

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:	816
Gene Symbol:	CAMK2B

CAMK2B

0.100

CausalMutation

phenotype

CLINVAR

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

2017

Entrez Id:	79797
Gene Symbol:	ZNF408

ZNF408

0.100

Biomarker

phenotype

HPO

Entrez Id:	4286
Gene Symbol:	MITF

MITF

0.100

Biomarker

phenotype

HPO

Entrez Id:	64131
Gene Symbol:	XYLT1

XYLT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	57148
Gene Symbol:	RALGAPB

RALGAPB

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	113457
Gene Symbol:	TUBA3D

TUBA3D

0.100

Biomarker

phenotype

HPO

Entrez Id:	6010
Gene Symbol:	RHO

RHO

0.100

Biomarker

phenotype

HPO

Entrez Id:	57498
Gene Symbol:	KIDINS220

KIDINS220

0.100

Biomarker

phenotype

HPO

Entrez Id:	57728
Gene Symbol:	WDR19

WDR19

0.100

Biomarker

phenotype

HPO

Entrez Id:	5052
Gene Symbol:	PRDX1

PRDX1

0.100

Biomarker

phenotype

HPO

Entrez Id:	146167
Gene Symbol:	SLC38A8

SLC38A8

0.100

Biomarker

phenotype

HPO

Entrez Id:	3859
Gene Symbol:	KRT12

KRT12

0.100

Biomarker

phenotype

HPO

Entrez Id:	3850
Gene Symbol:	KRT3

KRT3

0.100

Biomarker

phenotype

HPO

Entrez Id:	55213
Gene Symbol:	RCBTB1

RCBTB1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2784
Gene Symbol:	GNB3

GNB3

0.100

Biomarker

phenotype

HPO

Entrez Id:	5950
Gene Symbol:	RBP4

RBP4

0.100

Biomarker

phenotype

HPO

Entrez Id:	79803
Gene Symbol:	HPS6

HPS6

0.100

Biomarker

phenotype

HPO

Entrez Id:	4043
Gene Symbol:	LRPAP1

LRPAP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	7299
Gene Symbol:	TYR

TYR

0.100

Biomarker

phenotype

HPO

Entrez Id:	157680
Gene Symbol:	VPS13B

VPS13B

0.100

Biomarker

phenotype

HPO

Entrez Id:	283652
Gene Symbol:	SLC24A5

SLC24A5

0.100

Biomarker

phenotype

HPO

Entrez Id:	80207
Gene Symbol:	OPA3

OPA3

0.100

Biomarker

phenotype

HPO

Entrez Id:	8842
Gene Symbol:	PROM1

PROM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	84062
Gene Symbol:	DTNBP1

DTNBP1

0.100

Biomarker

phenotype

HPO