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PedAM

Pediatric Disease Annotations & Medicines



   refractive error
  

Disease ID 837
Disease refractive error
Definition
Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.
Synonym
disorder of refraction
disorder of refraction (disorder)
disorder of refraction, nos
disorder refraction
disorder, refractive
disorders refraction
disorders, refractive
error refraction
error refractive
error, refractive
errors refraction
errors refractive
errors, refractive
eye refraction disorder
refraction disorder
refraction disorder of
refraction disorder, nos
refraction disorders
refraction error
refraction errors
refractive dis
refractive disorder
refractive disorders
refractive err
refractive error, nos
refractive errors
refractive errors [disease/finding]
DOID
UMLS
C0034951
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:38)
C0027092  |  myopia  |  22
C0456909  |  blindness  |  10
C0020490  |  hyperopia  |  9
C0002418  |  amblyopia  |  8
C0086543  |  cataract  |  7
C0004106  |  astigmatism  |  6
C0235238  |  cycloplegia  |  4
C0014877  |  esotropia  |  4
C0022578  |  keratoconus  |  4
C0155336  |  accommodative esotropia  |  4
C0017601  |  glaucoma  |  3
C0038379  |  strabismus  |  2
C0033075  |  presbyopia  |  2
C0028738  |  nystagmus  |  2
C0035334  |  retinitis pigmentosa  |  2
C0020490  |  hypermetropia  |  2
C0035309  |  retinopathy  |  2
C0003081  |  anisometropia  |  2
C0035333  |  retinitis  |  2
C0007789  |  cerebral palsy  |  2
C0005745  |  ptosis  |  1
C0033847  |  pseudoxanthoma elasticum  |  1
C0149931  |  migraine headache  |  1
C0035309  |  retinal disease  |  1
C0013261  |  duane syndrome  |  1
C1263846  |  attention deficit hyperactivity disorder  |  1
C0149931  |  migraine  |  1
C0700501  |  congenital nystagmus  |  1
C0037822  |  speech disorders  |  1
C0018179  |  granular corneal dystrophy  |  1
C0004352  |  autism  |  1
C0035309  |  retinal diseases  |  1
C0010036  |  corneal dystrophy  |  1
C0456909  |  vision loss  |  1
C0015397  |  eye disease  |  1
C0036454  |  visual field defects  |  1
C0015397  |  eye diseases  |  1
C0036454  |  visual field defect  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:19)
LAMA2  |  3908  |  GWASCAT
TJP2  |  9414  |  GWASCAT
CACNA1D  |  776  |  GWASCAT
ZMAT4  |  79698  |  GWASCAT
CHRNG  |  1146  |  GWASCAT
PCCA  |  5095  |  GWASCAT
ACTC1  |  70  |  CTD_human
MYO1D  |  4642  |  GWASCAT
CHN1  |  1123  |  GHR
KCNQ5  |  56479  |  GWASCAT
CNDP2  |  55748  |  GWASCAT
RASGRF1  |  5923  |  CTD_human;GWASCAT
GJD2  |  57369  |  CTD_human
RBFOX1  |  54715  |  GWASCAT
GRIA4  |  2893  |  GWASCAT
SHISA6  |  388336  |  GWASCAT
PTPRR  |  5801  |  GWASCAT
RORB  |  6096  |  GWASCAT
C14orf39  |  317761  |  GWASCAT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:2)
440270  |  GOLGA8B  |  infer
4233  |  MET  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:619)
401237  |  CASC15  |  DISEASES
11285  |  B4GALT7  |  DISEASES
4653  |  MYOC  |  DISEASES
1634  |  DCN  |  DISEASES
1951  |  CELSR3  |  DISEASES
8974  |  P4HA2  |  DISEASES
50700  |  RDH8  |  DISEASES
5351  |  PLOD1  |  DISEASES
6820  |  SULT2B1  |  DISEASES
1947  |  EFNB1  |  DISEASES
25984  |  KRT23  |  DISEASES
1652  |  DDT  |  DISEASES
1414  |  CRYBB1  |  DISEASES
9362  |  CPNE6  |  DISEASES
57167  |  SALL4  |  DISEASES
10627  |  MYL12A  |  DISEASES
9248  |  GPR50  |  DISEASES
7076  |  TIMP1  |  DISEASES
4313  |  MMP2  |  DISEASES
11151  |  CORO1A  |  DISEASES
1512  |  CTSH  |  DISEASES
2137  |  EXTL3  |  DISEASES
6422  |  SFRP1  |  DISEASES
3191  |  HNRNPL  |  DISEASES
7040  |  TGFB1  |  DISEASES
3982  |  LIM2  |  DISEASES
3082  |  HGF  |  DISEASES
23554  |  TSPAN12  |  DISEASES
2218  |  FKTN  |  DISEASES
5949  |  RBP3  |  DISEASES
7473  |  WNT3  |  DISEASES
1277  |  COL1A1  |  DISEASES
952  |  CD38  |  DISEASES
8929  |  PHOX2B  |  DISEASES
1410  |  CRYAB  |  DISEASES
1075  |  CTSC  |  DISEASES
55703  |  POLR3B  |  DISEASES
7287  |  TULP1  |  DISEASES
2979  |  GUCA1B  |  DISEASES
5961  |  PRPH2  |  DISEASES
2916  |  GRM6  |  DISEASES
2779  |  GNAT1  |  DISEASES
3769  |  KCNJ13  |  DISEASES
25806  |  VAX2  |  DISEASES
6301  |  SARS  |  DISEASES
58512  |  DLGAP3  |  DISEASES
7276  |  TTR  |  DISEASES
103910  |  MYL12B  |  DISEASES
9525  |  VPS4B  |  DISEASES
7043  |  TGFB3  |  DISEASES
9419  |  CRIPT  |  DISEASES
56126  |  PCDHB10  |  DISEASES
1958  |  EGR1  |  DISEASES
7976  |  FZD3  |  DISEASES
3204  |  HOXA7  |  DISEASES
7291  |  TWIST1  |  DISEASES
8655  |  DYNLL1  |  DISEASES
79809  |  TTC21B  |  DISEASES
6626  |  SNRPA  |  DISEASES
5184  |  PEPD  |  DISEASES
3581  |  IL9R  |  DISEASES
652  |  BMP4  |  DISEASES
23002  |  DAAM1  |  DISEASES
6495  |  SIX1  |  DISEASES
59269  |  HIVEP3  |  DISEASES
5300  |  PIN1  |  DISEASES
8854  |  ALDH1A2  |  DISEASES
9526  |  MPDU1  |  DISEASES
23162  |  MAPK8IP3  |  DISEASES
3630  |  INS  |  DISEASES
259232  |  NALCN  |  DISEASES
64428  |  NARFL  |  DISEASES
3859  |  KRT12  |  DISEASES
10912  |  GADD45G  |  DISEASES
9997  |  SCO2  |  DISEASES
3911  |  LAMA5  |  DISEASES
2521  |  FUS  |  DISEASES
6538  |  SLC6A11  |  DISEASES
84034  |  EMILIN2  |  DISEASES
3000  |  GUCY2D  |  DISEASES
5145  |  PDE6A  |  DISEASES
1131  |  CHRM3  |  DISEASES
57578  |  UNC79  |  DISEASES
5156  |  PDGFRA  |  DISEASES
22873  |  DZIP1  |  DISEASES
8739  |  HRK  |  DISEASES
10677  |  AVIL  |  DISEASES
5959  |  RDH5  |  DISEASES
4284  |  MIP  |  DISEASES
80896  |  NPL  |  DISEASES
27348  |  TOR1B  |  DISEASES
347733  |  TUBB2B  |  DISEASES
6386  |  SDCBP  |  DISEASES
6496  |  SIX3  |  DISEASES
84171  |  LOXL4  |  DISEASES
1295  |  COL8A1  |  DISEASES
1833  |  EPYC  |  DISEASES
845  |  CASQ2  |  DISEASES
5687  |  PSMA6  |  DISEASES
29954  |  POMT2  |  DISEASES
3843  |  IPO5  |  DISEASES
9663  |  LPIN2  |  DISEASES
8120  |  AP3B2  |  DISEASES
9187  |  SLC24A1  |  DISEASES
8482  |  SEMA7A  |  DISEASES
4016  |  LOXL1  |  DISEASES
338917  |  VSX2  |  DISEASES
7434  |  VIPR2  |  DISEASES
84662  |  GLIS2  |  DISEASES
1770  |  DNAH9  |  DISEASES
10847  |  SRCAP  |  DISEASES
9739  |  SETD1A  |  DISEASES
27443  |  CECR2  |  DISEASES
7011  |  TEP1  |  DISEASES
9620  |  CELSR1  |  DISEASES
7077  |  TIMP2  |  DISEASES
25939  |  SAMHD1  |  DISEASES
10133  |  OPTN  |  DISEASES
4924  |  NUCB1  |  DISEASES
7299  |  TYR  |  DISEASES
5033  |  P4HA1  |  DISEASES
334  |  APLP2  |  DISEASES
23024  |  PDZRN3  |  DISEASES
7301  |  TYRO3  |  DISEASES
4036  |  LRP2  |  DISEASES
55850  |  USE1  |  DISEASES
84708  |  LNX1  |  DISEASES
55669  |  MFN1  |  DISEASES
60482  |  SLC5A7  |  DISEASES
25791  |  NGEF  |  DISEASES
57192  |  MCOLN1  |  DISEASES
84695  |  LOXL3  |  DISEASES
79644  |  SRD5A3  |  DISEASES
1421  |  CRYGD  |  DISEASES
8452  |  CUL3  |  DISEASES
2743  |  GLRB  |  DISEASES
374  |  AREG  |  DISEASES
2247  |  FGF2  |  DISEASES
2255  |  FGF10  |  DISEASES
5276  |  SERPINI2  |  DISEASES
10686  |  CLDN16  |  DISEASES
11107  |  PRDM5  |  DISEASES
2651  |  GCNT2  |  DISEASES
9175  |  MAP3K13  |  DISEASES
10923  |  SUB1  |  DISEASES
1462  |  VCAN  |  DISEASES
1950  |  EGF  |  DISEASES
10371  |  SEMA3A  |  DISEASES
7982  |  ST7  |  DISEASES
26229  |  B3GAT3  |  DISEASES
11234  |  HPS5  |  DISEASES
7078  |  TIMP3  |  DISEASES
5149  |  PDE6H  |  DISEASES
347902  |  AMIGO2  |  DISEASES
4060  |  LUM  |  DISEASES
11081  |  KERA  |  DISEASES
50511  |  SYCP3  |  DISEASES
283375  |  SLC39A5  |  DISEASES
6252  |  RTN1  |  DISEASES
585  |  BBS4  |  DISEASES
170691  |  ADAMTS17  |  DISEASES
5373  |  PMM2  |  DISEASES
85407  |  NKD1  |  DISEASES
8996  |  NOL3  |  DISEASES
2588  |  GALNS  |  DISEASES
2589  |  GALNT1  |  DISEASES
81794  |  ADAMTS10  |  DISEASES
6531  |  SLC6A3  |  DISEASES
1952  |  CELSR2  |  DISEASES
54507  |  ADAMTSL4  |  DISEASES
10637  |  LEFTY1  |  DISEASES
7483  |  WNT9A  |  DISEASES
23500  |  DAAM2  |  DISEASES
2041  |  EPHA1  |  DISEASES
4851  |  NOTCH1  |  DISEASES
57689  |  LRRC4C  |  DISEASES
6911  |  TBX6  |  DISEASES
23074  |  UHRF1BP1L  |  DISEASES
22948  |  CCT5  |  DISEASES
51232  |  CRIM1  |  DISEASES
9871  |  SEC24D  |  DISEASES
1420  |  CRYGC  |  DISEASES
2893  |  GRIA4  |  DISEASES
25836  |  NIPBL  |  DISEASES
29974  |  A1CF  |  DISEASES
651  |  BMP3  |  DISEASES
3087  |  HHEX  |  DISEASES
170692  |  ADAMTS18  |  DISEASES
5801  |  PTPRR  |  DISEASES
760  |  CA2  |  DISEASES
1562  |  CYP2C18  |  DISEASES
54971  |  BANP  |  DISEASES
7411  |  VBP1  |  DISEASES
157657  |  C8orf37  |  DISEASES
9530  |  BAG4  |  DISEASES
5147  |  PDE6D  |  DISEASES
6529  |  SLC6A1  |  DISEASES
4681  |  NBL1  |  DISEASES
1142  |  CHRNB3  |  DISEASES
7484  |  WNT9B  |  DISEASES
57369  |  GJD2  |  DISEASES
70  |  ACTC1  |  DISEASES
79190  |  IRX6  |  DISEASES
1409  |  CRYAA  |  DISEASES
4041  |  LRP5  |  DISEASES
9965  |  FGF19  |  DISEASES
251  |  ALPPL2  |  DISEASES
6051  |  RNPEP  |  DISEASES
166336  |  PRICKLE2  |  DISEASES
57619  |  SHROOM3  |  DISEASES
84343  |  HPS3  |  DISEASES
6010  |  RHO  |  DISEASES
149461  |  CLDN19  |  DISEASES
85409  |  NKD2  |  DISEASES
6469  |  SHH  |  DISEASES
22853  |  LMTK2  |  DISEASES
79698  |  ZMAT4  |  DISEASES
115825  |  WDFY2  |  DISEASES
401  |  PHOX2A  |  DISEASES
90167  |  FRMD7  |  DISEASES
282974  |  STK32C  |  DISEASES
9317  |  PTER  |  DISEASES
81693  |  AMN  |  DISEASES
55832  |  CAND1  |  DISEASES
1381  |  CRABP1  |  DISEASES
9150  |  CTDP1  |  DISEASES
4314  |  MMP3  |  DISEASES
26585  |  GREM1  |  DISEASES
558  |  AXL  |  DISEASES
50964  |  SOST  |  DISEASES
54442  |  KCTD5  |  DISEASES
9427  |  ECEL1  |  DISEASES
27166  |  PRELID1  |  DISEASES
81603  |  TRIM8  |  DISEASES
9839  |  ZEB2  |  DISEASES
3479  |  IGF1  |  DISEASES
10296  |  MAEA  |  DISEASES
10251  |  SPRY3  |  DISEASES
5308  |  PITX2  |  DISEASES
136  |  ADORA2B  |  DISEASES
10736  |  SIX2  |  DISEASES
260425  |  MAGI3  |  DISEASES
375611  |  SLC26A5  |  DISEASES
1841  |  DTYMK  |  DISEASES
25928  |  SOSTDC1  |  DISEASES
8419  |  BFSP2  |  DISEASES
79192  |  IRX1  |  DISEASES
84342  |  COG8  |  DISEASES
23450  |  SF3B3  |  DISEASES
1296  |  COL8A2  |  DISEASES
378  |  ARF4  |  DISEASES
1816  |  DRD5  |  DISEASES
2353  |  FOS  |  DISEASES
1128  |  CHRM1  |  DISEASES
153572  |  IRX2  |  DISEASES
1501  |  CTNND2  |  DISEASES
113189  |  CHST14  |  DISEASES
5859  |  QARS  |  DISEASES
54205  |  CYCS  |  DISEASES
5340  |  PLG  |  DISEASES
29925  |  GMPPB  |  DISEASES
54715  |  RBFOX1  |  DISEASES
26502  |  NARF  |  DISEASES
81839  |  VANGL1  |  DISEASES
137735  |  ABRA  |  DISEASES
1605  |  DAG1  |  DISEASES
254102  |  EHBP1L1  |  DISEASES
84440  |  RAB11FIP4  |  DISEASES
23262  |  PPIP5K2  |  DISEASES
8636  |  SSNA1  |  DISEASES
10692  |  RRH  |  DISEASES
9129  |  PRPF3  |  DISEASES
9495  |  AKAP5  |  DISEASES
29926  |  GMPPA  |  DISEASES
1604  |  CD55  |  DISEASES
9229  |  DLGAP1  |  DISEASES
54714  |  CNGB3  |  DISEASES
6950  |  TCP1  |  DISEASES
582  |  BBS1  |  DISEASES
55620  |  STAP2  |  DISEASES
64388  |  GREM2  |  DISEASES
6764  |  ST5  |  DISEASES
1129  |  CHRM2  |  DISEASES
11145  |  PLA2G16  |  DISEASES
10938  |  EHD1  |  DISEASES
115752  |  DIS3L  |  DISEASES
205  |  AK4  |  DISEASES
4312  |  MMP1  |  DISEASES
51010  |  EXOSC3  |  DISEASES
199699  |  DAND5  |  DISEASES
4642  |  MYO1D  |  DISEASES
3909  |  LAMA3  |  DISEASES
57010  |  CABP4  |  DISEASES
29895  |  MYLPF  |  DISEASES
55486  |  PARL  |  DISEASES
157807  |  CLVS1  |  DISEASES
7481  |  WNT11  |  DISEASES
2200  |  FBN1  |  DISEASES
57716  |  PRX  |  DISEASES
2303  |  FOXC2  |  DISEASES
79147  |  FKRP  |  DISEASES
633  |  BGN  |  DISEASES
284359  |  IZUMO1  |  DISEASES
7050  |  TGIF1  |  DISEASES
56478  |  EIF4ENIF1  |  DISEASES
9241  |  NOG  |  DISEASES
1260  |  CNGA2  |  DISEASES
4990  |  SIX6  |  DISEASES
286753  |  TUSC5  |  DISEASES
221692  |  PHACTR1  |  DISEASES
80176  |  SPSB1  |  DISEASES
4496  |  MT1H  |  DISEASES
2192  |  FBLN1  |  DISEASES
1538  |  CYLC1  |  DISEASES
79191  |  IRX3  |  DISEASES
3212  |  HOXB2  |  DISEASES
9573  |  GDF3  |  DISEASES
29940  |  DSE  |  DISEASES
222546  |  RFX6  |  DISEASES
220  |  ALDH1A3  |  DISEASES
5915  |  RARB  |  DISEASES
2689  |  GH2  |  DISEASES
668  |  FOXL2  |  DISEASES
9877  |  ZC3H11A  |  DISEASES
3751  |  KCND2  |  DISEASES
25794  |  FSCN2  |  DISEASES
55589  |  BMP2K  |  DISEASES
342035  |  GLDN  |  DISEASES
55217  |  TMLHE  |  DISEASES
135  |  ADORA2A  |  DISEASES
84146  |  ZNF644  |  DISEASES
9227  |  LRAT  |  DISEASES
4842  |  NOS1  |  DISEASES
3932  |  LCK  |  DISEASES
64412  |  GZF1  |  DISEASES
6622  |  SNCA  |  DISEASES
64778  |  FNDC3B  |  DISEASES
6540  |  SLC6A13  |  DISEASES
4521  |  NUDT1  |  DISEASES
23275  |  POFUT2  |  DISEASES
221927  |  BRAT1  |  DISEASES
60506  |  NYX  |  DISEASES
401138  |  AMTN  |  DISEASES
3167  |  HMX2  |  DISEASES
27098  |  CLUL1  |  DISEASES
388228  |  SBK1  |  DISEASES
124454  |  EARS2  |  DISEASES
5549  |  PRELP  |  DISEASES
1499  |  CTNNB1  |  DISEASES
84075  |  FSCB  |  DISEASES
4771  |  NF2  |  DISEASES
56479  |  KCNQ5  |  DISEASES
440435  |  GPR179  |  DISEASES
144165  |  PRICKLE1  |  DISEASES
56940  |  DUSP22  |  DISEASES
22881  |  ANKRD6  |  DISEASES
8326  |  FZD9  |  DISEASES
6890  |  TAP1  |  DISEASES
54716  |  SLC6A20  |  DISEASES
1413  |  CRYBA4  |  DISEASES
2331  |  FMOD  |  DISEASES
80781  |  COL18A1  |  DISEASES
10142  |  AKAP9  |  DISEASES
51256  |  TBC1D7  |  DISEASES
8736  |  MYOM1  |  DISEASES
284654  |  RSPO1  |  DISEASES
723961  |  INS-IGF2  |  DISEASES
55124  |  PIWIL2  |  DISEASES
23513  |  SCRIB  |  DISEASES
1297  |  COL9A1  |  DISEASES
9961  |  MVP  |  DISEASES
4763  |  NF1  |  DISEASES
157680  |  VPS13B  |  DISEASES
8323  |  FZD6  |  DISEASES
56980  |  PRDM10  |  DISEASES
8822  |  FGF17  |  DISEASES
5995  |  RGR  |  DISEASES
6942  |  TCF20  |  DISEASES
653440  |  WASH6P  |  DISEASES
6539  |  SLC6A12  |  DISEASES
7456  |  WIPF1  |  DISEASES
79947  |  DHDDS  |  DISEASES
11169  |  WDHD1  |  DISEASES
22909  |  FAN1  |  DISEASES
9760  |  TOX  |  DISEASES
55605  |  KIF21A  |  DISEASES
56853  |  CELF4  |  DISEASES
3211  |  HOXB1  |  DISEASES
5891  |  MOK  |  DISEASES
1527  |  TEX28  |  DISEASES
1122  |  CHML  |  DISEASES
148789  |  B3GALNT2  |  DISEASES
6905  |  TBCE  |  DISEASES
127018  |  LYPLAL1  |  DISEASES
7042  |  TGFB2  |  DISEASES
26254  |  OPTC  |  DISEASES
7432  |  VIP  |  DISEASES
23418  |  CRB1  |  DISEASES
10090  |  UST  |  DISEASES
1660  |  DHX9  |  DISEASES
1805  |  DPT  |  DISEASES
1490  |  CTGF  |  DISEASES
57216  |  VANGL2  |  DISEASES
5824  |  PEX19  |  DISEASES
93183  |  PIGM  |  DISEASES
3645  |  INSRR  |  DISEASES
6232  |  RPS27  |  DISEASES
4942  |  OAT  |  DISEASES
7286  |  TUFT1  |  DISEASES
1193  |  CLIC2  |  DISEASES
116442  |  RAB39B  |  DISEASES
65991  |  FUNDC2  |  DISEASES
8266  |  UBL4A  |  DISEASES
7482  |  WNT2B  |  DISEASES
140  |  ADORA3  |  DISEASES
5016  |  OVGP1  |  DISEASES
3744  |  KCNA10  |  DISEASES
167691  |  LCA5  |  DISEASES
2316  |  FLNA  |  DISEASES
728447  |  TEX28P1  |  DISEASES
2652  |  OPN1MW  |  DISEASES
653363  |  TEX28P2  |  DISEASES
5956  |  OPN1LW  |  DISEASES
1301  |  COL11A1  |  DISEASES
1810  |  DR1  |  DISEASES
79057  |  PRRG3  |  DISEASES
4534  |  MTM1  |  DISEASES
2258  |  FGF13  |  DISEASES
5737  |  PTGFR  |  DISEASES
653  |  BMP5  |  DISEASES
23401  |  FRAT2  |  DISEASES
10023  |  FRAT1  |  DISEASES
9124  |  PDLIM1  |  DISEASES
26027  |  ACOT11  |  DISEASES
202500  |  TCTE1  |  DISEASES
7319  |  UBE2A  |  DISEASES
286257  |  C9orf142  |  DISEASES
1289  |  COL5A1  |  DISEASES
51727  |  CMPK1  |  DISEASES
6834  |  SURF1  |  DISEASES
55624  |  POMGNT1  |  DISEASES
7422  |  VEGFA  |  DISEASES
94233  |  OPN4  |  DISEASES
27069  |  GHITM  |  DISEASES
10585  |  POMT1  |  DISEASES
23404  |  EXOSC2  |  DISEASES
11128  |  POLR3A  |  DISEASES
7075  |  TIE1  |  DISEASES
1907  |  EDN2  |  DISEASES
1298  |  COL9A2  |  DISEASES
656  |  BMP8B  |  DISEASES
26508  |  HEYL  |  DISEASES
1025  |  CDK9  |  DISEASES
50945  |  TBX22  |  DISEASES
23633  |  KPNA6  |  DISEASES
80114  |  BICC1  |  DISEASES
11130  |  ZWINT  |  DISEASES
6015  |  RING1  |  DISEASES
1302  |  COL11A2  |  DISEASES
1306  |  COL15A1  |  DISEASES
3055  |  HCK  |  DISEASES
7918  |  GPANK1  |  DISEASES
778  |  CACNA1F  |  DISEASES
7546  |  ZIC2  |  DISEASES
23348  |  DOCK9  |  DISEASES
30813  |  VSX1  |  DISEASES
1325  |  CORT  |  DISEASES
56998  |  CTNNBIP1  |  DISEASES
631  |  BFSP1  |  DISEASES
2857  |  GPR34  |  DISEASES
120863  |  DEPDC4  |  DISEASES
6103  |  RPGR  |  DISEASES
2189  |  FANCG  |  DISEASES
650  |  BMP2  |  DISEASES
64225  |  ATL2  |  DISEASES
646480  |  FABP9  |  DISEASES
5080  |  PAX6  |  DISEASES
55973  |  BCAP29  |  DISEASES
5251  |  PHEX  |  DISEASES
345193  |  LRIT3  |  DISEASES
241  |  ALOX5AP  |  DISEASES
1280  |  COL2A1  |  DISEASES
4676  |  NAP1L4  |  DISEASES
6456  |  SH3GL2  |  DISEASES
2296  |  FOXC1  |  DISEASES
9350  |  CER1  |  DISEASES
8777  |  MPDZ  |  DISEASES
7054  |  TH  |  DISEASES
6453  |  ITSN1  |  DISEASES
9946  |  CRYZL1  |  DISEASES
50808  |  AK3  |  DISEASES
143  |  PARP4  |  DISEASES
114899  |  C1QTNF3  |  DISEASES
169522  |  KCNV2  |  DISEASES
387911  |  C1QTNF9B  |  DISEASES
4285  |  MIPEP  |  DISEASES
94137  |  RP1L1  |  DISEASES
1186  |  CLCN7  |  DISEASES
361  |  AQP4  |  DISEASES
1133  |  CHRM5  |  DISEASES
55576  |  STAB2  |  DISEASES
56953  |  NT5M  |  DISEASES
238  |  ALK  |  DISEASES
4017  |  LOXL2  |  DISEASES
1146  |  CHRNG  |  DISEASES
284217  |  LAMA1  |  DISEASES
11340  |  EXOSC8  |  DISEASES
2524  |  FUT2  |  DISEASES
9244  |  CRLF1  |  DISEASES
29994  |  BAZ2B  |  DISEASES
51651  |  PTRH2  |  DISEASES
6430  |  SRSF5  |  DISEASES
3426  |  CFI  |  DISEASES
26022  |  TMEM98  |  DISEASES
5530  |  PPP3CA  |  DISEASES
64115  |  C10orf54  |  DISEASES
4145  |  MATK  |  DISEASES
6046  |  BRD2  |  DISEASES
4239  |  MFAP4  |  DISEASES
6641  |  SNTB1  |  DISEASES
6235  |  RPS29  |  DISEASES
137872  |  ADHFE1  |  DISEASES
4901  |  NRL  |  DISEASES
4308  |  TRPM1  |  DISEASES
64221  |  ROBO3  |  DISEASES
1415  |  CRYBB2  |  DISEASES
7110  |  TMF1  |  DISEASES
81539  |  SLC38A1  |  DISEASES
84570  |  COL25A1  |  DISEASES
54890  |  ALKBH5  |  DISEASES
55698  |  RADIL  |  DISEASES
10581  |  IFITM2  |  DISEASES
100463285  |  MTRNR2L4  |  DISEASES
57096  |  RPGRIP1  |  DISEASES
84189  |  SLITRK6  |  DISEASES
4148  |  MATN3  |  DISEASES
643418  |  LIPN  |  DISEASES
23077  |  MYCBP2  |  DISEASES
285016  |  FAM150B  |  DISEASES
51701  |  NLK  |  DISEASES
9378  |  NRXN1  |  DISEASES
137970  |  UNC5D  |  DISEASES
3778  |  KCNMA1  |  DISEASES
2570  |  GABRR2  |  DISEASES
55777  |  MBD5  |  DISEASES
89766  |  UMODL1  |  DISEASES
1123  |  CHN1  |  DISEASES
176  |  ACAN  |  DISEASES
2641  |  GCG  |  DISEASES
348180  |  CTU2  |  DISEASES
10321  |  CRISP3  |  DISEASES
388336  |  SHISA6  |  DISEASES
285175  |  UNC80  |  DISEASES
55657  |  ZNF692  |  DISEASES
83552  |  MFRP  |  DISEASES
3481  |  IGF2  |  DISEASES
55636  |  CHD7  |  DISEASES
6399  |  TRAPPC2  |  DISEASES
6222  |  RPS18  |  DISEASES
23210  |  JMJD6  |  DISEASES
1029  |  CDKN2A  |  DISEASES
23705  |  CADM1  |  DISEASES
5076  |  PAX2  |  DISEASES
8823  |  FGF16  |  DISEASES
139716  |  GAB3  |  DISEASES
7439  |  BEST1  |  DISEASES
3908  |  LAMA2  |  DISEASES
84627  |  ZNF469  |  DISEASES
8315  |  BRAP  |  DISEASES
197320  |  ZNF778  |  DISEASES
139728  |  PNCK  |  DISEASES
5923  |  RASGRF1  |  DISEASES
9742  |  IFT140  |  DISEASES
399697  |  CTXN2  |  DISEASES
84897  |  TBRG1  |  DISEASES
1132  |  CHRM4  |  DISEASES
2263  |  FGFR2  |  DISEASES
84319  |  CMSS1  |  DISEASES
89782  |  LMLN  |  DISEASES
116  |  ADCYAP1  |  DISEASES
2569  |  GABRR1  |  DISEASES
161823  |  ADAL  |  DISEASES
404672  |  GTF2H5  |  DISEASES
7045  |  TGFBI  |  DISEASES
10682  |  EBP  |  DISEASES
1539  |  CYLC2  |  DISEASES
5890  |  RAD51B  |  DISEASES
6256  |  RXRA  |  DISEASES
4345  |  CD200  |  DISEASES
6091  |  ROBO1  |  DISEASES
5542  |  PRB1  |  DISEASES
4043  |  LRPAP1  |  DISEASES
346007  |  EYS  |  DISEASES
342538  |  NACA2  |  DISEASES
3347  |  HTN3  |  DISEASES
8322  |  FZD4  |  DISEASES
7164  |  TPD52L1  |  DISEASES
9973  |  CCS  |  DISEASES
100463289  |  MTRNR2L5  |  DISEASES
84133  |  ZNRF3  |  DISEASES
80184  |  CEP290  |  DISEASES
8499  |  PPFIA2  |  DISEASES
10381  |  TUBB3  |  DISEASES
414899  |  BLID  |  DISEASES
4212  |  MEIS2  |  DISEASES
820  |  CAMP  |  DISEASES
7716  |  VEZF1  |  DISEASES
4782  |  NFIC  |  DISEASES
3292  |  HSD17B1  |  DISEASES
200959  |  GABRR3  |  DISEASES
54938  |  SARS2  |  DISEASES
57000  |  GSN-AS1  |  DISEASES
102723508  |  KANTR  |  DISEASES
348120  |  LINC01193  |  DISEASES
26766  |  RNU105C  |  DISEASES
6080  |  SNORA73A  |  DISEASES
26770  |  SNORD79  |  DISEASES
25826  |  SNORD82  |  DISEASES
347689  |  SOX2-OT  |  DISEASES
Locus(Waiting for update.)
Disease ID 837
Disease refractive error
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:39)
HP:0000505  |  Poor vision  |  26
HP:0000545  |  Near sightedness  |  22
HP:0000540  |  Hypermetropia  |  11
HP:0000618  |  Blindness  |  10
HP:0000646  |  Wandering eyes  |  8
HP:0000518  |  Cataract  |  7
HP:0000483  |  Astigmatism  |  6
HP:0011003  |  High myopia  |  5
HP:0007868  |  ARMD  |  4
HP:0000563  |  Conical cornea  |  4
HP:0000572  |  Visual loss  |  4
HP:0000565  |  Inward turning of one or both eyes  |  4
HP:0000501  |  Glaucoma  |  3
HP:0100021  |  Cerebral palsy  |  2
HP:0000486  |  Squint eyes  |  2
HP:0000365  |  Hearing impairment  |  2
HP:0002315  |  Headaches  |  2
HP:0000639  |  Nystagmus  |  2
HP:0000488  |  Noninflammatory retina disease  |  2
HP:0000510  |  Retinitis pigmentosa  |  2
HP:0012803  |  Anisometropia  |  2
HP:0000609  |  Optic nerve hypoplasia  |  1
HP:0005306  |  Capillary hemangioma  |  1
HP:0007957  |  Corneal clouding  |  1
HP:0002172  |  Postural instability  |  1
HP:0007018  |  Attention deficits  |  1
HP:0001123  |  Partial loss of field of vision  |  1
HP:0006934  |  Congenital nystagmus  |  1
HP:0007802  |  Granular corneal dystrophy  |  1
HP:0007687  |  Unilateral ptosis  |  1
HP:0007970  |  Congenital ptosis  |  1
HP:0000717  |  Autism  |  1
HP:0000708  |  Behavioral problems  |  1
HP:0001131  |  Corneal dystrophy  |  1
HP:0000508  |  Drooping upper eyelid  |  1
HP:0001059  |  Pterygium  |  1
HP:0002076  |  Migraine headaches  |  1
HP:0002167  |  Speech disorder  |  1
HP:0000752  |  Hyperactive behavior  |  1
Disease ID 837
Disease refractive error
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
C0456909  |  blindness  |  10
C0002418  |  amblyopia  |  8
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:38)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104893768118791424901NRLumls:C0034951BeFreeThe dark-adaptation thresholds, equivalent visual field diameters, and electroretinogram amplitudes (all corrected for age and refractive error) indicated that the disease caused by the NRL mutations was more severe than that caused by the dominant rhodopsin mutation Pro23His and was similar in severity to that produced by the rhodopsin mutation Pro347Leu.0.0002714422002RHO3129528801CA
rs104893768118791426010RHOumls:C0034951BeFreeThe dark-adaptation thresholds, equivalent visual field diameters, and electroretinogram amplitudes (all corrected for age and refractive error) indicated that the disease caused by the NRL mutations was more severe than that caused by the dominant rhodopsin mutation Pro23His and was similar in severity to that produced by the rhodopsin mutation Pro347Leu.0.0002714422002RHO3129528801CA
rs105003552347481554715RBFOX1umls:C0034951GWASCATMeta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.0.1202714422014RBFOX1167409346TA
rs11145465233961349414TJP2umls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.122013TJP2969151677CA
rs11601239233961342893GRIA4umls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.122013GRIA411105685872CG
rs12205363233961343908LAMA2umls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.122013LAMA2;LOC1027234096129513484TC
rs12229663233961345801PTPRRumls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.122013PTPRR1270856216AG
rs125431923396134317761C14orf39umls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.122013C14orf391460437039GA
rs129711202339613455748CNDP2umls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.122013CNDP21874506788AG
rs1416523396134776CACNA1Dumls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.122013CACNA1D353813381AG
rs17183295233961344642MYO1Dumls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.122013MYO1D1732751254CT
rs176485242339613454715RBFOX1umls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.1202714422013RBFOX1167409682GC
rs1881492233961341146CHRNGumls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.122013CHRNG2232542288TG
rs2137277240144846422SFRP1umls:C0034951BeFreeThree genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)).0.0002714422014ZMAT4840877143AG,T
rs21372772401448479698ZMAT4umls:C0034951BeFreeThree genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)).0.1202714422014ZMAT4840877143AG,T
rs2137277240144841770DNAH9umls:C0034951BeFreeThree genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)).0.0002714422014ZMAT4840877143AG,T
rs213727724014484388336SHISA6umls:C0034951BeFreeThree genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)).0.1202714422014ZMAT4840877143AG,T
rs21372772401448457369GJD2umls:C0034951BeFreeThree genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)).0.1202714422014ZMAT4840877143AG,T
rs2184971233961345095PCCAumls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.122013PCCA13100165838AG
rs29001566118791424901NRLumls:C0034951BeFreeThe dark-adaptation thresholds, equivalent visual field diameters, and electroretinogram amplitudes (all corrected for age and refractive error) indicated that the disease caused by the NRL mutations was more severe than that caused by the dominant rhodopsin mutation Pro23His and was similar in severity to that produced by the rhodopsin mutation Pro347Leu.0.0002714422002RHO3129533711CA,G,T
rs29001566118791426010RHOumls:C0034951BeFreeThe dark-adaptation thresholds, equivalent visual field diameters, and electroretinogram amplitudes (all corrected for age and refractive error) indicated that the disease caused by the NRL mutations was more severe than that caused by the dominant rhodopsin mutation Pro23His and was similar in severity to that produced by the rhodopsin mutation Pro347Leu.0.0002714422002RHO3129533711CA,G,T
rs2969180240144846422SFRP1umls:C0034951BeFreeThree genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)).0.0002714422014SHISA61711504584GA
rs296918024014484388336SHISA6umls:C0034951BeFreeThree genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)).0.1202714422014SHISA61711504584GA
rs2969180240144841770DNAH9umls:C0034951BeFreeThree genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)).0.0002714422014SHISA61711504584GA
rs296918023396134388336SHISA6umls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.1202714422013SHISA61711504584GA
rs29691802401448479698ZMAT4umls:C0034951BeFreeThree genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)).0.1202714422014SHISA61711504584GA
rs29691802401448457369GJD2umls:C0034951BeFreeThree genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)).0.1202714422014SHISA61711504584GA
rs313814423396134100528022BLOC1S1-RDH5umls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.122013RDH5;BLOC1S1-RDH51255720985GC
rs4778879233961345923RASGRF1umls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.242013RASGRF11579080533AG
rs524952240144841770DNAH9umls:C0034951BeFreeThree genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)).0.0002714422014NA1534713685TA
rs524952240144846422SFRP1umls:C0034951BeFreeThree genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)).0.0002714422014NA1534713685TA
rs52495224014484388336SHISA6umls:C0034951BeFreeThree genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)).0.1202714422014NA1534713685TA
rs5249522401448479698ZMAT4umls:C0034951BeFreeThree genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)).0.1202714422014NA1534713685TA
rs5249522401448457369GJD2umls:C0034951BeFreeThree genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)).0.1202714422014NA1534713685TA
rs63499020835239440270GOLGA8Bumls:C0034951GAD[A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.]0.0023670322010NA1534713872TC
rs7042950233961346096RORBumls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.122013RORB974534921AG
rs77448132339613456479KCNQ5umls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.122013KCNQ5672933566CA
rs78291272339613479698ZMAT4umls:C0034951GWASCATGenome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.0.1202714422013ZMAT4840868875AG
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:79)
CHR POS SNPID REF ALT ORI_SNPID PMID P_VALUE P_VALUE_TEXT OR/BETA CI95_TEXT GWAS_INITIAL_SAMPLE_SIZE SUB_POPULATION SUPER_POPULATION GWAS_TRAIT HPO_ID HPO_TERM DO_ID DO_TERM MESH_ID MESH_TERM EFO_ID EFO_TERM DOLITE_TERM RISK_ALLELE PUBLICATION_TYPE AA GENE_SYMBOL TYPE REFGENE
2233379941rs1656404GArs1656404233961348.00E-11NA0.15[0.11-0.20] unit decrease37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
2233406998rs1881492TGrs1881492233961345.00E-11NA0.14[0.098-0.18] unit decrease37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
353847408rs14165AGrs14165233961342.00E-08NA0.1[0.063-0.129] unit increase37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
480530671rs9307551ACrs9307551233961341.00E-08NA0.1[0.066-0.132] unit decrease37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
481930814rs1960445CTrs1960445233961341.00E-06NA0.11[0.067-0.161] unit decrease37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
673643289rs7744813CArs7744813233961344.00E-09NA0.11[0.075-0.149] unit increase37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
6129834629rs12205363TCrs12205363233961342.00E-12NA0.24[0.17-0.3] unit increase37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
840726394rs7829127AGrs7829127233961344.00E-10NA0.12[0.081-0.151] unit increase37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
860179086rs7837791GTrs7837791233961344.00E-12NA0.11[0.077-0.135] unit increase37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
971766593rs11145465CArs11145465233961347.00E-09NA0.12[0.083-0.165] unit decrease37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
977149837rs7042950AGrs7042950233961344.00E-08NA0.1[0.061-0.131] unit decrease37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
1060265404rs7084402AGrs7084402233961342.00E-13NA0.11[0.079-0.137] unit decrease37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
1094924324rs10882165ATrs10882165233961341.00E-11NA0.11[0.076-0.138] unit decrease37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
11105556598rs11601239CGrs11601239233961346.00E-09NA0.1[0.064-0.126] unit decrease37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
1256114769rs3138144GCrs3138144233961344.00E-12NA0.12[0.086-0.152] unit increase37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
1271249996rs12229663AGrs12229663233961345.00E-09NA0.1[0.066-0.132] unit increase37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
13100818092rs2184971AGrs2184971233961342.00E-08NA0.09[0.056-0.114] unit increase37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
1460903757rs1254319GArs1254319233961341.00E-08NA0.09[0.059-0.117] unit decrease37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
1534989626rs11073058GTrs11073058208352398.45E-12NANANA5,328 European descent individualsEuropean(5328)ALL(5328)EUR(5328)ALL(5328)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tComparative Study
1534989674rs11073059TArs11073059208352398.45E-12NANANA5,328 European descent individualsEuropean(5328)ALL(5328)EUR(5328)ALL(5328)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tComparative Study
1534989851rs11073060CArs11073060208352393.65E-12NANANA5,328 European descent individualsEuropean(5328)ALL(5328)EUR(5328)ALL(5328)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tComparative Study
1534990574rs7163001GArs7163001208352395.61E-12NANANA5,328 European descent individualsEuropean(5328)ALL(5328)EUR(5328)ALL(5328)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tComparative Study
1534991490rs8032019AGrs8032019208352393.71E-10NANANA5,328 European descent individualsEuropean(5328)ALL(5328)EUR(5328)ALL(5328)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tComparative Study
1534994565rs4924134AGrs4924134208352391.36E-12NANANA5,328 European descent individualsEuropean(5328)ALL(5328)EUR(5328)ALL(5328)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tComparative Study
1534995106rs619788CArs619788208352392.53E-11NANANA5,328 European descent individualsEuropean(5328)ALL(5328)EUR(5328)ALL(5328)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tComparative Study
1534998829rs580839GArs580839208352392.53E-11NANANA5,328 European descent individualsEuropean(5328)ALL(5328)EUR(5328)ALL(5328)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tComparative Study
1534998875rs688220GArs688220208352392.79E-11NANANA5,328 European descent individualsEuropean(5328)ALL(5328)EUR(5328)ALL(5328)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tComparative Study
1534999479rs7176510CTrs7176510208352396.25E-11NANANA5,328 European descent individualsEuropean(5328)ALL(5328)EUR(5328)ALL(5328)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tComparative Study
1535000942rs560766GArs560766208352392.49E-11NANANA5,328 European descent individualsEuropean(5328)ALL(5328)EUR(5328)ALL(5328)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tComparative Study
1535005886rs524952TArs524952208352393.18E-14NANANA5,328 European descent individualsEuropean(5328)ALL(5328)EUR(5328)ALL(5328)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tComparative Study
1535005886rs524952TArs524952233961341.00E-15NA0.16[0.12-0.2] unit decrease37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
1535006073rs634990TCrs634990208352392.00E-14NA0.23[0.228-0.232] diopter increase5,328 European descent individualsEuropean(5328)ALL(5328)EUR(5328)ALL(5328)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseasers634990-CResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tComparative Study
1535008335rs685352AGrs685352208352394.19E-12NANANA5,328 European descent individualsEuropean(5328)ALL(5328)EUR(5328)ALL(5328)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tComparative Study
1579372875rs4778879AGrs4778879233961344.00E-11NA0.1[0.073-0.131] unit decrease37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
1579375347rs6495367GArs6495367208352363.86E-05NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyARASGRF1
1579378821rs13380104CTrs13380104208352364.42E-05NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyCRASGRF1
1579379492rs1007365TGrs1007365208352364.77E-05NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyGRASGRF1
1579392548rs2049176ACrs2049176208352362.54E-05NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyCNA
1579410710rs2102999TCrs2102999208352361.95E-05NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyCNA
1579420245rs8035606CTrs8035606208352362.06E-05NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyTNA
1579420620rs1915726CGrs1915726208352363.69E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyGNA
1579422726rs8031638CTrs8031638208352364.48E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyCNA
1579427260rs8024813AGrs8024813208352363.93E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyANA
1579431063rs939661AGrs939661208352362.73E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyCNA
1579432359rs12595749AGrs12595749208352366.39E-06NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyANA
1579432475rs11634679TCrs11634679208352363.83E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyTNA
1579432737rs11635757TCrs11635757208352363.83E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyTNA
1579432992rs11630571CArs11630571208352363.82E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyCNA
1579433171rs12902831GArs12902831208352363.82E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyGNA
1579434787rs11638625TGrs11638625208352363.96E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyTNA
1579436192rs11634903AGrs11634903208352363.94E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyANA
1579443363rs4778924TCrs4778924208352363.34E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyTNA
1579445816rs11631411CTrs11631411208352363.34E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyCNA
1579447810rs4778651GArs4778651208352369.81E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyGNA
1579449335rs2204069AGrs2204069208352361.00E-06NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyTNA
1579449627rs12903747ACrs12903747208352361.01E-06NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyCNA
1579451869rs939658AGrs939658208352362.00E-09NA0.15[0.10-0.20] diopter decrease4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseasers939658-GComparative StudyT,CNA
1579455350rs8033963CTrs8033963208352361.59E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyTNA
1579456381rs12439908TCrs12439908208352361.69E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyTNA
1579457133rs11629665GArs11629665208352361.69E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyANA
1579458512rs8031019AGrs8031019208352361.69E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyGNA
1579458589rs8031504GTrs8031504208352361.69E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyGNA
1579461029rs8027411GTrs8027411208352367.91E-08NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyGNA
1579461516rs11072826AGrs11072826208352361.38E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyANA
1579463036rs8038464ATrs8038464208352366.35E-06NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyTNA
1579463847rs1474256CTrs1474256208352362.77E-06NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyCNA
1579463960rs17175798CTrs17175798208352361.38E-07NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyCNA
1579465210rs1434459TCrs1434459208352362.49E-06NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyANA
1579465600rs8024572AGrs8024572208352362.67E-06NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyANA
1579465894rs11634726AGrs11634726208352362.21E-06NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyANA
1579468082rs1560895AGrs1560895208352364.52E-05NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyCNA
1579470998rs11072829AGrs11072829208352362.49E-06NANANA4,270 UK twinsUK(4270)ALL(4270)EUR(4270)ALL(4270)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAComparative StudyANA
167459347rs10500355TArs10500355234748154.00E-09NA0.11[0.074-0.147] unit decrease6,597 European ancestry individuals; 683 Sardinian inidividualsSardinian(683)European(6597)ALL(7280)EUR(7280)ALL(7280)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908refractive errorEye diseaseNAResearch Support, N.I.H., ExtramuralMeta-Analysis
167459683rs17648524GCrs17648524233961346.00E-10NA0.12[0.081-0.155] unit decrease37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
1711407901rs2969180GArs2969180233961347.00E-11NA0.1[0.072-0.13] unit decrease37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
1731078272rs17183295CTrs17183295233961341.00E-10NA0.13[0.092-0.17] unit decrease37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
1768718734rs4793501CTrs4793501233961343.00E-08NA0.08[0.053-0.107] unit increase37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
1872174023rs12971120AGrs12971120233961342.00E-07NA0.1[0.062-0.136] unit increase37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
206761765rs235770TCrs235770233961342.00E-08NA0.09[0.058-0.12] unit decrease37,382 European ancestry individuals; 578 Han Chinese ancestry individuals; 3,417 Chinese Singaporean ancestry individuals; 2,273 Singaporean Malaysian ancestry individuals; 2,108 Singaporean Indian ancestry individualsSingaporean Malaysian(2273)Han Chinese(578)Singaporean Indian(2108)European(37382)Chinese Singaporean(3417)ALL(45758)ASN(6268)EUR(37382)SAN(2108)ALL(45758)Refractive errorHPOID:0000478Abnormality of the eyeDOID:9835refractive errorD012030Refractive ErrorsEFOID:0003908
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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