DisGeNET - a database of gene-disease associations

Severe myopia, C0271183

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1425998598

BPTF

0.700

GeneticVariation

CLINVAR

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

28942966

2017

dbSNP:

rs1057518802

SLC19A1 ; COL18A1

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057518836

NDP ; NDP-AS1

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057524237

COL11A1

0.700

CausalMutation

CLINVAR

dbSNP:

rs121918327

BBS12

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854466

FBN1

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554121443

SYNGAP1 ; MIR5004

0.700

CausalMutation

CLINVAR

dbSNP:

rs1557551678

CLDN19

0.700

CausalMutation

CLINVAR

dbSNP:

rs1565679039

COL2A1

0.700

CausalMutation

CLINVAR

dbSNP:

rs193922219

FBN1

0.700

CausalMutation

CLINVAR

dbSNP:

rs202057289

LRP2

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727503054

FBN1

0.700

CausalMutation

CLINVAR

dbSNP:

rs730882261

RPGR

0.700

CausalMutation

CLINVAR

dbSNP:

rs765919785

COL18A1 ; MIR6815

0.700

GeneticVariation

CLINVAR

dbSNP:

rs775769424

BBS1 ; ZDHHC24

0.700

CausalMutation

CLINVAR

dbSNP:

rs886039469

KCNMA1 ; KCNMA1-AS1

0.700

CausalMutation

CLINVAR

dbSNP:

rs3759223

LUM

0.060

GeneticVariation

BEFREE

Chinese lumican rs3759223 C allele carriers may be at reduced risk of high myopia.

24516061

2014

dbSNP:

rs3759223

LUM

0.060

GeneticVariation

BEFREE

The results indicated that rs3759223 polymorphism was associated with high myopia under a recessive model (OR = 1.71, 95%CI 1.04-2.81).

24956166

2014

dbSNP:

rs3759223

LUM

0.060

GeneticVariation

BEFREE

This meta-analysis has suggested that there is a lack of association of the rs3759223 polymorphism with high myopia risk.

24927138

2014

dbSNP:

rs3759223

LUM

0.060

GeneticVariation

BEFREE

This meta-analysis showed the evidence that SNP rs3759223 may affect individual susceptibility to high myopia in the Chinese population.

24061151

2013

dbSNP:

rs3759223

LUM

0.060

GeneticVariation

BEFREE

Genetic variation in the regulatory domains of the lumican gene, where both rs3759223 and rs3741834 are located, are associated with high myopia susceptibility among the Han Chinese, making this region worthy of further investigation.

19616852

2009

dbSNP:

rs3759223

LUM

0.060

GeneticVariation

BEFREE

Our results indicate that an SNP (rs3759223), which is located in the promoter region of the lumican gene, may be worth further investigation to determine its association with development of high myopia.

16902402

2006

dbSNP:

rs524952

0.050

GeneticVariation

BEFREE

The results of this meta-analysis suggested the rs524952 and rs634990 polymorphisms may have nothing to do with the development of HM.

31673225

2019

dbSNP:

rs524952

0.050

GeneticVariation

BEFREE

Genotype-phenotype correlation analysis revealed that high myopia subjects carrying 4q25 rs10034228 T allele showed thicker central corneal thickness, whereas high myopia subjects carrying 15q14 rs524952 A allele were associated with longer axial length and larger curvature ratio.

31604699

2019

dbSNP:

rs524952

0.050

GeneticVariation

BEFREE

In the first analysis, comprising highly myopic cases with MMD (N = 348) versus emmetropic controls without MMD (N = 16,275), two SNPs were significantly associated with high myopia in adults with HM and MMD: (1) rs10824518 (P = 6.20E-07) in KCNMA1, which is highly expressed in human retinal and scleral tissues; and (2) rs524952 (P = 2.32E-16) near GJD2.

31415580

2019