DisGeNET - a database of gene-disease associations

Hyperopia, High, C1855925

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:	473
Gene Symbol:	RERE

RERE

0.100

Biomarker

phenotype

HPO

Entrez Id:	9031
Gene Symbol:	BAZ1B

BAZ1B

0.100

Biomarker

phenotype

HPO

Entrez Id:	9569
Gene Symbol:	GTF2IRD1

GTF2IRD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2248
Gene Symbol:	FGF3

FGF3

0.100

Biomarker

phenotype

HPO

Entrez Id:	64072
Gene Symbol:	CDH23

CDH23

0.100

Biomarker

phenotype

HPO

Entrez Id:	26022
Gene Symbol:	TMEM98

TMEM98

0.100

Biomarker

phenotype

HPO

Entrez Id:	10383
Gene Symbol:	TUBB4B

TUBB4B

0.100

Biomarker

phenotype

HPO

Entrez Id:	3984
Gene Symbol:	LIMK1

LIMK1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10743
Gene Symbol:	RAI1

RAI1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9333
Gene Symbol:	TGM5

TGM5

0.100

Biomarker

phenotype

HPO

Entrez Id:	65217
Gene Symbol:	PCDH15

PCDH15

0.100

Biomarker

phenotype

HPO

Entrez Id:	26053
Gene Symbol:	AUTS2

AUTS2

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	4089
Gene Symbol:	SMAD4

SMAD4

0.100

Biomarker

phenotype

HPO

Entrez Id:	22901
Gene Symbol:	ARSG

ARSG

0.100

Biomarker

phenotype

HPO

Entrez Id:	112752
Gene Symbol:	IFT43

IFT43

0.100

Biomarker

phenotype

HPO

Entrez Id:	2006
Gene Symbol:	ELN

ELN

0.100

Biomarker

phenotype

HPO

Entrez Id:	5982
Gene Symbol:	RFC2

RFC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	6023
Gene Symbol:	RMRP

RMRP

0.100

Biomarker

phenotype

HPO

Entrez Id:	8514
Gene Symbol:	KCNAB2

KCNAB2

0.100

Biomarker

phenotype

HPO

Entrez Id:	23418
Gene Symbol:	CRB1

CRB1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1475
Gene Symbol:	CSTA

CSTA

0.100

Biomarker

phenotype

HPO

Entrez Id:	745
Gene Symbol:	MYRF

MYRF

0.300

Biomarker

phenotype

GENOMICS_ENGLAND

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

31048900

2019

Entrez Id:	745
Gene Symbol:	MYRF

MYRF

0.300

Biomarker

phenotype

GENOMICS_ENGLAND

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF.

31700225

2019