abnormality of refraction Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. (Human Phenotype Ontology, HP_0000539)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0000539
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Genes

368 genes associated with the abnormality of refraction phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
DHX15 DEAH (Asp-Glu-Ala-His) box helicase 15 1.61971
MIPEP mitochondrial intermediate peptidase 1.2331
ASPA aspartoacylase 1.21853
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 1.1701
VIPR2 vasoactive intestinal peptide receptor 2 1.11203
RSPO1 R-spondin 1 1.07403
ZNF536 zinc finger protein 536 1.00982
SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 0.931243
DENND1A DENN/MADD domain containing 1A 0.931243
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 0.894239
CMSS1 cms1 ribosomal small subunit homolog (yeast) 0.881851
BICC1 BicC family RNA binding protein 1 0.878495
ZEB2 zinc finger E-box binding homeobox 2 0.749994
LOC100129620 uncharacterized LOC100129620 0.719731
LOC646021 0.584959
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 0.584959
DCLK1 doublecortin-like kinase 1 0.572823
CHEK2 checkpoint kinase 2 0.572823
LAMA2 laminin, alpha 2 0.572823
FLI1 Fli-1 proto-oncogene, ETS transcription factor 0.542759
BCAS3 breast carcinoma amplified sequence 3 0.530444
PML promyelocytic leukemia 0.515847
RERE arginine-glutamic acid dipeptide (RE) repeats 0.510576
FILIP1L filamin A interacting protein 1-like 0.496519
GPC6 glypican 6 0.495598
TMEM30C transmembrane protein 30C 0.479753
SRPK2 SRSF protein kinase 2 0.474018
TACC2 transforming, acidic coiled-coil containing protein 2 0.474018
VAX2 ventral anterior homeobox 2 0.474018
MIR100HG mir-100-let-7a-2 cluster host gene 0.474018
NKAIN2 Na+/K+ transporting ATPase interacting 2 0.4604
SPTBN1 spectrin, beta, non-erythrocytic 1 0.4604
ARID3A AT rich interactive domain 3A (BRIGHT-like) 0.4604
BMP6 bone morphogenetic protein 6 0.450694
TIMELESS timeless circadian clock 0.450694
CLSTN2 calsyntenin 2 0.450694
LOC729305 uncharacterized LOC729305 0.433116
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 0.433116
PPP1R3B protein phosphatase 1, regulatory subunit 3B 0.427265
PTPRD protein tyrosine phosphatase, receptor type, D 0.426113
DNAH5 dynein, axonemal, heavy chain 5 0.424122
DOCK9 dedicator of cytokinesis 9 0.420542
GYLTL1B glycosyltransferase-like 1B 0.413807
RPTOR regulatory associated protein of MTOR, complex 1 0.413807
SMPDL3B sphingomyelin phosphodiesterase, acid-like 3B 0.413807
MAML2 mastermind-like 2 (Drosophila) 0.413807
PDE4D phosphodiesterase 4D, cAMP-specific 0.413807
MIP major intrinsic protein of lens fiber 0.411963
DNAH9 dynein, axonemal, heavy chain 9 0.410331
FHIT fragile histidine triad 0.410331
ERI1 exoribonuclease 1 0.410331
ADGRA2 adhesion G protein-coupled receptor A2 0.410331
CDH4 cadherin 4, type 1, R-cadherin (retinal) 0.410331
TECRL trans-2,3-enoyl-CoA reductase-like 0.410331
NSMCE2 non-SMC element 2, MMS21 homolog (S. cerevisiae) 0.409271
MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 0.408854
LOC100506085 uncharacterized LOC100506085 0.408206
CNTN5 contactin 5 0.408206
GATA4 GATA binding protein 4 0.408206
LMO7 LIM domain 7 0.408206
PARP8 poly (ADP-ribose) polymerase family, member 8 0.408206
PTN pleiotrophin 0.406884
SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit 0.406588
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3 0.406588
PEX16 peroxisomal biogenesis factor 16 0.406417
PRRC2C proline-rich coiled-coil 2C 0.405992
FLJ45872 0.405267
CHD4 chromodomain helicase DNA binding protein 4 0.405267
WDR34 WD repeat domain 34 0.405267
IGSF9 immunoglobulin superfamily, member 9 0.40439
CAPN9 calpain 9 0.40409
NXPH1 neurexophilin 1 0.40409
CHSY1 chondroitin sulfate synthase 1 0.40409
BMP2 bone morphogenetic protein 2 0.403854
PHF21A PHD finger protein 21A 0.403493
RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1 0.403463
CTNND2 catenin (cadherin-associated protein), delta 2 0.403073
PPP2R4 protein phosphatase 2A activator, regulatory subunit 4 0.403073
THSD7B thrombospondin, type I, domain containing 7B 0.403073
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 0.403073
TMPRSS9 transmembrane protease, serine 9 0.403073
USP53 ubiquitin specific peptidase 53 0.402177
STAU2 staufen double-stranded RNA binding protein 2 0.402177
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1 0.401469
LRP1B low density lipoprotein receptor-related protein 1B 0.401275
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 0.400962
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 0.398821
SLC44A2 solute carrier family 44 (choline transporter), member 2 0.398365
ZMAT4 zinc finger, matrin-type 4 0.397819
VAV2 vav 2 guanine nucleotide exchange factor 0.397363
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 0.397143
CDKL1 cyclin-dependent kinase-like 1 (CDC2-related kinase) 0.397035
CEP85L centrosomal protein 85kDa-like 0.395786
ARHGAP24 Rho GTPase activating protein 24 0.394211
LY6K lymphocyte antigen 6 complex, locus K 0.393942
PRICKLE2 prickle homolog 2 (Drosophila) 0.393006
ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 0.392521
GLIS1 GLIS family zinc finger 1 0.392442
LOC100288181 uncharacterized LOC100288181 0.391255
STX8 syntaxin 8 0.390413
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 0.390252
LRCH1 leucine-rich repeats and calponin homology (CH) domain containing 1 0.390125
CACNB4 calcium channel, voltage-dependent, beta 4 subunit 0.389514
ST5 suppression of tumorigenicity 5 0.38888
MEGF11 multiple EGF-like-domains 11 0.388713
MSRA methionine sulfoxide reductase A 0.388686
RAB3C RAB3C, member RAS oncogene family 0.388424
RFX8 RFX family member 8, lacking RFX DNA binding domain 0.388111
ALPK1 alpha-kinase 1 0.388049
KRT26 keratin 26, type I 0.387957
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 0.387776
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 0.387361
PARVB parvin, beta 0.386933
IFIH1 interferon induced with helicase C domain 1 0.38641
AATF apoptosis antagonizing transcription factor 0.38573
ZNF717 zinc finger protein 717 0.38528
CTIF CBP80/20-dependent translation initiation factor 0.385133
SNTG1 syntrophin, gamma 1 0.38429
PXYLP1 2-phosphoxylose phosphatase 1 0.384133
PEMT phosphatidylethanolamine N-methyltransferase 0.384066
GPR180 G protein-coupled receptor 180 0.384044
SORCS3 sortilin-related VPS10 domain containing receptor 3 0.383867
UBASH3A ubiquitin associated and SH3 domain containing A 0.383459
DENND1C DENN/MADD domain containing 1C 0.383187
C19ORF81 chromosome 19 open reading frame 81 0.383084
XYLT1 xylosyltransferase I 0.382681
MPZL1 myelin protein zero-like 1 0.382583
PAX6 paired box 6 0.382561
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 0.382249
DSP desmoplakin 0.382207
FAM45A family with sequence similarity 45, member A 0.381181
LHX6 LIM homeobox 6 0.381162
ADGRV1 adhesion G protein-coupled receptor V1 0.381105
MOCS1 molybdenum cofactor synthesis 1 0.380918
CDH13 cadherin 13 0.380733
LOC100652770 0.380605
RNF125 ring finger protein 125, E3 ubiquitin protein ligase 0.380318
RSU1 Ras suppressor protein 1 0.3803
PTGER3 prostaglandin E receptor 3 (subtype EP3) 0.379576
ZMYND11 zinc finger, MYND-type containing 11 0.379509
PRR5 proline rich 5 (renal) 0.378843
PDE11A phosphodiesterase 11A 0.378764
VPS13D vacuolar protein sorting 13 homolog D (S. cerevisiae) 0.3783
LOC440704 uncharacterized LOC440704 0.377852
DNHD1 dynein heavy chain domain 1 0.377764
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 0.377461
PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 0.377166
PXDNL peroxidasin-like 0.376931
LY86-AS1 LY86 antisense RNA 1 0.376528
AKAP12 A kinase (PRKA) anchor protein 12 0.376266
GPC5 glypican 5 0.376139
PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 0.376013
TMTC1 transmembrane and tetratricopeptide repeat containing 1 0.375889
CNBD1 cyclic nucleotide binding domain containing 1 0.375284
DLGAP1 discs, large (Drosophila) homolog-associated protein 1 0.374707
SLIT3 slit homolog 3 (Drosophila) 0.374594
TRIM67 tripartite motif containing 67 0.374155
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) 0.373119
TENM4 teneurin transmembrane protein 4 0.373119
RBMS3 RNA binding motif, single stranded interacting protein 3 0.372921
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase 0.372727
OR10J1 olfactory receptor, family 10, subfamily J, member 1 0.372536
APOH apolipoprotein H (beta-2-glycoprotein I) 0.371621
COL18A1 collagen, type XVIII, alpha 1 0.371533
TMEM132D transmembrane protein 132D 0.371273
ECE1 endothelin converting enzyme 1 0.371018
SDK1 sidekick cell adhesion molecule 1 0.371018
DMGDH dimethylglycine dehydrogenase 0.370604
HDAC11 histone deacetylase 11 0.370204
SMAD9 SMAD family member 9 0.369969
MIPEPP3 mitochondrial intermediate peptidase pseudogene 3 0.369814
CTNNA3 catenin (cadherin-associated protein), alpha 3 0.369141
NPAS3 neuronal PAS domain protein 3 0.367763
SH2D4B SH2 domain containing 4B 0.367697
MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 0.366001
MUSK muscle, skeletal, receptor tyrosine kinase 0.365776
PDZRN4 PDZ domain containing ring finger 4 0.365339
CAPN14 calpain 14 0.365126
BBS2 Bardet-Biedl syndrome 2 0.365021
SLC39A11 solute carrier family 39, member 11 0.364917
OTX2-AS1 OTX2 antisense RNA 1 (head to head) 0.364865
DKFZP451B082 uncharacterized LOC401282 0.364762
APBB2 amyloid beta (A4) precursor protein-binding, family B, member 2 0.364711
SNX9 sorting nexin 9 0.36426
WDR62 WD repeat domain 62 0.364211
ASB17 ankyrin repeat and SOCS box containing 17 0.364113
FARP1 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 0.363856
COL22A1 collagen, type XXII, alpha 1 0.363805
ADAM18 ADAM metallopeptidase domain 18 0.363702
LPPR1 lipid phosphate phosphatase-related protein type 1 0.363651
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 0.36355
C10ORF11 chromosome 10 open reading frame 11 0.362532
EPAS1 endothelial PAS domain protein 1 0.3623
IL31RA interleukin 31 receptor A 0.362163
GPM6A glycoprotein M6A 0.362073
ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 0.362073
NFASC neurofascin 0.361716
CD96 CD96 molecule 0.361413
PRKCE protein kinase C, epsilon 0.36137
MTUS2 microtubule associated tumor suppressor candidate 2 0.361284
LAMC3 laminin, gamma 3 0.361242
MTMR7 myotubularin related protein 7 0.3612
PIEZO2 piezo-type mechanosensitive ion channel component 2 0.3612
KIF16B kinesin family member 16B 0.360662
DPP10 dipeptidyl-peptidase 10 (non-functional) 0.360581
LAMA1 laminin, alpha 1 0.360144
GALC galactosylceramidase 0.360028
ZBTB20 zinc finger and BTB domain containing 20 0.359951
PLEKHA2 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 0.359951
ZNF578 zinc finger protein 578 0.359951
C1QTNF9B C1q and tumor necrosis factor related protein 9B 0.35976
TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 0.359647
THRB thyroid hormone receptor, beta 0.359535
C12ORF42 chromosome 12 open reading frame 42 0.35946
METTL24 methyltransferase like 24 0.35935
FLJ45831 0.358845
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.358669
BOLA3 bolA family member 3 0.358565
CCDC184 coiled-coil domain containing 184 0.358089
LYPD6B LY6/PLAUR domain containing 6B 0.358023
CSMD1 CUB and Sushi multiple domains 1 0.357989
IGSF21 immunoglobin superfamily, member 21 0.35776
NME8 NME/NM23 family member 8 0.357387
ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9 0.357145
AJAP1 adherens junctions associated protein 1 0.356873
PARVA parvin, alpha 0.356806
THSD4 thrombospondin, type I, domain containing 4 0.356639
PLEKHA7 pleckstrin homology domain containing, family A member 7 0.35654
TNIK TRAF2 and NCK interacting kinase 0.356377
PELI2 pellino E3 ubiquitin protein ligase family member 2 0.356087
DHX34 DEAH (Asp-Glu-Ala-His) box polypeptide 34 0.355803
PCDH15 protocadherin-related 15 0.35571
PLXNA4 plexin A4 0.35571
KSR2 kinase suppressor of ras 2 0.355648
ABHD17C abhydrolase domain containing 17C 0.355402
SOX5 SRY (sex determining region Y)-box 5 0.355342
WIPI2 WD repeat domain, phosphoinositide interacting 2 0.355191
STRN striatin, calmodulin binding protein 0.354836
LYPD6 LY6/PLAUR domain containing 6 0.354235
SEC63 SEC63 homolog (S. cerevisiae) 0.354207
ERICH6B glutamate-rich 6B 0.354151
SV2B synaptic vesicle glycoprotein 2B 0.353686
C5ORF42 chromosome 5 open reading frame 42 0.353659
C16ORF62 chromosome 16 open reading frame 62 0.353605
CHD2 chromodomain helicase DNA binding protein 2 0.353498
MCPH1 microcephalin 1 0.353339
BDNF-AS BDNF antisense RNA 0.353313
CPNE5 copine V 0.35326
UNC5C unc-5 homolog C (C. elegans) 0.353234
HEATR4 HEAT repeat containing 4 0.353208
PCDH7 protocadherin 7 0.35313
MSH4 mutS homolog 4 0.353104
SFXN4 sideroflexin 4 0.353027
ITGBL1 integrin, beta-like 1 (with EGF-like repeat domains) 0.353027
THAP8 THAP domain containing 8 0.352746
TNNI3K TNNI3 interacting kinase 0.352696
RBM19 RNA binding motif protein 19 0.352571
INADL InaD-like (Drosophila) 0.352546
FREM1 FRAS1 related extracellular matrix 1 0.352496
ETV6 ets variant 6 0.352446
DZIP3 DAZ interacting zinc finger protein 3 0.352397
EML1 echinoderm microtubule associated protein like 1 0.352323
DDX4 DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 0.352274
KCNK9 potassium channel, two pore domain subfamily K, member 9 0.352008
BRE brain and reproductive organ-expressed (TNFRSF1A modulator) 0.352008
SLC1A6 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 0.351818
PRKG1 protein kinase, cGMP-dependent, type I 0.35177
CABP7 calcium binding protein 7 0.35177
SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 0.351723
EXOC2 exocyst complex component 2 0.35163
MTUS1 microtubule associated tumor suppressor 1 0.351583
CNTN3 contactin 3 (plasmacytoma associated) 0.351583
FOXO1 forkhead box O1 0.351536
PROM1 prominin 1 0.351467
ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 0.351375
CASS4 Cas scaffolding protein family member 4 0.351193
CNTN4 contactin 4 0.350835
ANKRD30B ankyrin repeat domain 30B 0.350769
ABTB2 ankyrin repeat and BTB (POZ) domain containing 2 0.350703
NCKAP5L NCK-associated protein 5-like 0.350616
ARHGDIB Rho GDP dissociation inhibitor (GDI) beta 0.350525
ARHGAP18 Rho GTPase activating protein 18 0.350525
STARD13 StAR-related lipid transfer (START) domain containing 13 0.350454
KCNAB1 potassium channel, voltage gated subfamily A regulatory beta subunit 1 0.35043
SIPA1L2 signal-induced proliferation-associated 1 like 2 0.35029
CNIH3 cornichon family AMPA receptor auxiliary protein 3 0.35022
ATXN1 ataxin 1 0.34999
MACROD2 MACRO domain containing 2 0.349809
DDAH1 dimethylarginine dimethylaminohydrolase 1 0.349809
ENOX1 ecto-NOX disulfide-thiol exchanger 1 0.349674
MAPRE2 microtubule-associated protein, RP/EB family, member 2 0.349674
RARS arginyl-tRNA synthetase 0.349651
ME3 malic enzyme 3, NADP(+)-dependent, mitochondrial 0.349651
MYO18B myosin XVIIIB 0.349585
ARSB arylsulfatase B 0.349562
PCDHGA1 protocadherin gamma subfamily A, 1 0.349364
FBXO36 F-box protein 36 0.349276
MYH13 myosin, heavy chain 13, skeletal muscle 0.349103
SMIM23 small integral membrane protein 23 0.349081
TAF7 TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa 0.349017
GBA3 glucosidase, beta, acid 3 (gene/pseudogene) 0.348868
DPYD dihydropyrimidine dehydrogenase 0.348804
NETO1 neuropilin (NRP) and tolloid (TLL)-like 1 0.348783
UBE2L3 ubiquitin-conjugating enzyme E2L 3 0.348531
ABI3BP ABI family, member 3 (NESH) binding protein 0.34849
CASP6 caspase 6, apoptosis-related cysteine peptidase 0.348449
SGCE sarcoglycan, epsilon 0.348325
PRDM10 PR domain containing 10 0.348101
RELN reelin 0.348041
HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 0.34796
COX7B2 cytochrome c oxidase subunit VIIb2 0.3479
ACSL5 acyl-CoA synthetase long-chain family member 5 0.347861
EDIL3 EGF-like repeats and discoidin I-like domains 3 0.347683
MYO3B myosin IIIB 0.347624
RGL1 ral guanine nucleotide dissociation stimulator-like 1 0.347565
FANCI Fanconi anemia, complementation group I 0.347468
TARBP1 TAR (HIV-1) RNA binding protein 1 0.347429
SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 0.34739
MTCL1 microtubule crosslinking factor 1 0.347275
ICAM3 intercellular adhesion molecule 3 0.347237
CPEB3 cytoplasmic polyadenylation element binding protein 3 0.347218
FRAS1 Fraser extracellular matrix complex subunit 1 0.347199
VAV3 vav 3 guanine nucleotide exchange factor 0.347123
PLD5 phospholipase D family, member 5 0.347047
SLC22A13 solute carrier family 22 (organic anion/urate transporter), member 13 0.346953
GPATCH2L G patch domain containing 2-like 0.346785
ERBB4 erb-b2 receptor tyrosine kinase 4 0.346767
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8 0.346711
IRX2 iroquois homeobox 2 0.346711
ST14 suppression of tumorigenicity 14 (colon carcinoma) 0.346437
GRM7 glutamate receptor, metabotropic 7 0.346167
ITGA11 integrin, alpha 11 0.346131
AIM1 absent in melanoma 1 0.346114
MAP3K13 mitogen-activated protein kinase kinase kinase 13 0.346096
ZNF727 zinc finger protein 727 0.346096
MOB1A MOB kinase activator 1A 0.346096
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.346078
CHURC1-FNTB CHURC1-FNTB readthrough 0.34606
NCALD neurocalcin delta 0.346007
HS3ST4 heparan sulfate (glucosamine) 3-O-sulfotransferase 4 0.346007
FAM169A family with sequence similarity 169, member A 0.345972
ASIC2 acid sensing (proton gated) ion channel 2 0.345937
BPIFC BPI fold containing family C 0.34585
FBXO41 F-box protein 41 0.345815
UNC80 unc-80 homolog (C. elegans) 0.345815
DLEU2 deleted in lymphocytic leukemia 2 (non-protein coding) 0.345711
CHURC1 churchill domain containing 1 0.345573
TCF4 transcription factor 4 0.345522
EXD2 exonuclease 3'-5' domain containing 2 0.345504
GRM4 glutamate receptor, metabotropic 4 0.345487
SLC26A9 solute carrier family 26 (anion exchanger), member 9 0.34547
ITIH5 inter-alpha-trypsin inhibitor heavy chain family, member 5 0.34547
LDLRAD3 low density lipoprotein receptor class A domain containing 3 0.345419
CNTN6 contactin 6 0.345369
AGBL4 ATP/GTP binding protein-like 4 0.345284
FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 0.345251
ABLIM2 actin binding LIM protein family, member 2 0.345084
TMEM244 transmembrane protein 244 0.344837
PDGFD platelet derived growth factor D 0.344837
TSPAN5 tetraspanin 5 0.34482
C4ORF19 chromosome 4 open reading frame 19 0.344755
ROCK1P1 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 0.344723
MN1 meningioma (disrupted in balanced translocation) 1 0.344658
CASD1 CAS1 domain containing 1 0.344642
USH2A Usher syndrome 2A (autosomal recessive, mild) 0.344577
CCSER1 coiled-coil serine-rich protein 1 0.344497
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 0.34445
ZNF462 zinc finger protein 462 0.34437