Details of Disease

General Information of Disease (ID: DISWNEQ1)

• Disease Name: Refractive error
• Definition: A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia.
• Disease Hierarchy:
  DISB52BH: Eye disorder
  DISWNEQ1: Refractive error
• Disease Identifiers:
  MONDO ID: MONDO_0004892
  MESH ID: D012030
  UMLS CUI: C0034951
  MedGen ID: 20508
  SNOMED CT ID: 39021009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 11 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJD2	TTOZAFI	moderate	Genetic Variation	[1]
CACNA1D	TT7RGTM	Strong	Genetic Variation	[2]
GRIA4	TTPJR0G	Strong	Genetic Variation	[2]
GRM6	TTWRP2F	Strong	Genetic Variation	[3]
KCNQ5	TTWVL5Q	Strong	Genetic Variation	[2]
PCCA	TT1JDE3	Strong	Genetic Variation	[2]
RORB	TTGB2LZ	Strong	Genetic Variation	[2]
RS1	TTT2CZY	Strong	Genetic Variation	[4]
SERPINI2	TTFS1T2	Strong	Genetic Variation	[5]
SLC38A1	TT1YE9Z	Strong	Biomarker	[6]
VIPR2	TT4O5P0	Strong	Genetic Variation	[7]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC14A2	DT8QC7K	Strong	Biomarker	[6]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHDH	DEAHED0	Strong	Genetic Variation	[2]
RDH5	DESI4OK	Strong	Genetic Variation	[2]

This Disease Is Related to 24 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RASGRF1	OTNWJ7EN	Limited	Genetic Variation	[2]
SHISA6	OTWBCJ8O	moderate	Genetic Variation	[8]
ACTC1	OTJU04B1	Strong	Biomarker	[9]
APLP2	OTTFE53M	Strong	Genetic Variation	[10]
ARID2	OTIRJXWM	Strong	Biomarker	[6]
B3GAT3	OTDSN5XF	Strong	Biomarker	[11]
C14orf39	OTFKQ6HO	Strong	Genetic Variation	[2]
CHRNG	OTXC2UR7	Strong	Genetic Variation	[2]
CNDP2	OTJR9436	Strong	Genetic Variation	[2]
DNAH9	OTI2QIZQ	Strong	Genetic Variation	[8]
ECEL1	OTJ6GNUP	Strong	Genetic Variation	[12]
HERC2	OTNQYKOB	Strong	Biomarker	[13]
LAMA2	OTFROQWE	Strong	Genetic Variation	[2]
MYO1D	OTP2RGPN	Strong	Genetic Variation	[2]
MYOC	OT6DAHNF	Strong	Biomarker	[14]
NRL	OT65MFKQ	Strong	Genetic Variation	[15]
PHLDA2	OTMV9DPP	Strong	Biomarker	[16]
PLK3	OT19CT2Z	Strong	Biomarker	[17]
PRSS56	OTPPXTBB	Strong	Biomarker	[18]
PTPRR	OT790UA2	Strong	Genetic Variation	[2]
SMIM10L2B	OT04IG2N	Strong	Biomarker	[19]
TJP2	OTQUY6BV	Strong	Genetic Variation	[2]
TOX	OTE8BL5Z	Strong	Genetic Variation	[20]
RBFOX1	OTFPKEL7	Definitive	Genetic Variation	[2]

References

• [1] Variation in PTCHD2, CRISP3, NAP1L4, FSCB, and AP3B2 associated with spherical equivalent.Mol Vis. 2016 Jul 14;22:783-96. eCollection 2016.
• [2] Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.Nat Genet. 2013 Mar;45(3):314-8. doi: 10.1038/ng.2554. Epub 2013 Feb 10.
• [3] A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.Acta Ophthalmol. 2012 May;90(3):e192-7. doi: 10.1111/j.1755-3768.2011.02267.x. Epub 2011 Oct 19.
• [4] Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation.Ophthalmic Genet. 2000 Sep;21(3):171-80.
• [5] Common polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British Birth Cohort.Invest Ophthalmol Vis Sci. 2012 Jan 25;53(1):440-7. doi: 10.1167/iovs.10-5640.
• [6] Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.Nat Commun. 2016 Mar 29;7:11008. doi: 10.1038/ncomms11008.
• [7] Genetic susceptibility to refractive error: association of vasoactive intestinal peptide receptor 2 (VIPR2) with high myopia in Chinese.PLoS One. 2013 Apr 18;8(4):e61805. doi: 10.1371/journal.pone.0061805. Print 2013.
• [8] Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies.Hum Mol Genet. 2014 Jan 15;23(2):546-54. doi: 10.1093/hmg/ddt431. Epub 2013 Sep 6.
• [9] A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.Nat Genet. 2010 Oct;42(10):897-901. doi: 10.1038/ng.663. Epub 2010 Sep 12.
• [10] APLP2 Regulates Refractive Error and Myopia Development in Mice and Humans.PLoS Genet. 2015 Aug 27;11(8):e1005432. doi: 10.1371/journal.pgen.1005432. eCollection 2015 Aug.
• [11] Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.Am J Med Genet A. 2016 Oct;170(10):2711-8. doi: 10.1002/ajmg.a.37809. Epub 2016 Jun 20.
• [12] Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.Clin Genet. 2014 Jun;85(6):562-7. doi: 10.1111/cge.12224. Epub 2013 Jul 19.
• [13] Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.Hum Genet. 2018 Dec;137(11-12):881-896. doi: 10.1007/s00439-018-1942-8. Epub 2018 Oct 10.
• [14] Phenotypic differences between familial versus non-familial Juvenile onset open angle glaucoma patients.Ophthalmic Genet. 2018 Jan-Feb;39(1):63-67. doi: 10.1080/13816810.2017.1368088. Epub 2017 Sep 14.
• [15] Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.Arch Ophthalmol. 2002 Mar;120(3):369-75. doi: 10.1001/archopht.120.3.369.
• [16] Macular Ganglion Cell and Retinal Nerve Fiber Layer Thickness in Children With Refractive Errors-An Optical Coherence Tomography Study.J Glaucoma. 2017 Jul;26(7):619-625. doi: 10.1097/IJG.0000000000000683.
• [17] Surgical Options for the Refractive Correction of Keratoconus: Myth or Reality.J Ophthalmol. 2017;2017:7589816. doi: 10.1155/2017/7589816. Epub 2017 Dec 18.
• [18] Mller glia-derived PRSS56 is required to sustain ocular axial growth and prevent refractive error.PLoS Genet. 2018 Mar 12;14(3):e1007244. doi: 10.1371/journal.pgen.1007244. eCollection 2018 Mar.
• [19] Demyelination and shrinkage of axons in the retinal nerve fiber layer in chickens developing deprivation myopia.Exp Eye Res. 2019 Nov;188:107783. doi: 10.1016/j.exer.2019.107783. Epub 2019 Aug 29.
• [20] Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.Hum Genet. 2015 Feb;134(2):131-46. doi: 10.1007/s00439-014-1500-y. Epub 2014 Nov 4.