DisGeNET - a database of gene-disease associations

Hypoplasia of optic disc, C1298695

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:	324
Gene Symbol:	APC

APC

0.100

Biomarker

disease

HPO

Entrez Id:	57010
Gene Symbol:	CABP4

CABP4

0.100

Biomarker

disease

HPO

Entrez Id:	778
Gene Symbol:	CACNA1F

CACNA1F

0.100

Biomarker

disease

HPO

Entrez Id:	93589
Gene Symbol:	CACNA2D4

CACNA2D4

0.100

Biomarker

disease

HPO

Entrez Id:	1123
Gene Symbol:	CHN1

CHN1

0.100

Biomarker

disease

HPO

Entrez Id:	84570
Gene Symbol:	COL25A1

COL25A1

0.100

Biomarker

disease

HPO

Entrez Id:	23259
Gene Symbol:	DDHD2

DDHD2

0.100

Biomarker

disease

HPO

Entrez Id:	9573
Gene Symbol:	GDF3

GDF3

0.100

Biomarker

disease

HPO

Entrez Id:	392255
Gene Symbol:	GDF6

GDF6

0.100

Biomarker

disease

HPO

Entrez Id:	2779
Gene Symbol:	GNAT1

GNAT1

0.100

Biomarker

disease

HPO

Entrez Id:	2784
Gene Symbol:	GNB3

GNB3

0.100

Biomarker

disease

HPO

Entrez Id:	440435
Gene Symbol:	GPR179

GPR179

0.100

Biomarker

disease

HPO

Entrez Id:	6011
Gene Symbol:	GRK1

GRK1

0.100

Biomarker

disease

HPO

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

0.100

Biomarker

disease

HPO

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

0.100

Biomarker

disease

HPO

Entrez Id:	3192
Gene Symbol:	HNRNPU

HNRNPU

0.100

Biomarker

disease

HPO

Entrez Id:	345193
Gene Symbol:	LRIT3

LRIT3

0.100

Biomarker

disease

HPO

Entrez Id:	9935
Gene Symbol:	MAFB

MAFB

0.100

Biomarker

disease

HPO

Entrez Id:	4657
Gene Symbol:	MYP1

MYP1

0.010

Biomarker

disease

BEFREE

In addition, our results suggest that color visual defects and optic disc hypoplasia are not necessary signs of high myopia attributed to the MYP1 region.

2010

Entrez Id:	4784
Gene Symbol:	NFIX

NFIX

0.100

Biomarker

disease

HPO

Entrez Id:	60506
Gene Symbol:	NYX

NYX

0.100

Biomarker

disease

HPO

Entrez Id:	5080
Gene Symbol:	PAX6

PAX6

0.100

Biomarker

disease

HPO

Entrez Id:	5158
Gene Symbol:	PDE6B

PDE6B

0.100

Biomarker

disease

HPO

Entrez Id:	11128
Gene Symbol:	POLR3A

POLR3A

0.100

Biomarker

disease

HPO

Entrez Id:	6010
Gene Symbol:	RHO

RHO

0.100

Biomarker

disease

HPO