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PedAM

Pediatric Disease Annotations & Medicines



   retinal disease
  

Disease ID 497
Disease retinal disease
Definition
Diseases involving the RETINA.
Synonym
disease retinal
disease, retinal
diseases retinal
diseases, retinal
disorder retinal
disorders retina
disorders retinal
noninflammatory retina disease
retina disorder
retinal dis
retinal disease, nos
retinal diseases
retinal diseases [disease/finding]
retinal disorder
retinal disorder (disorder)
retinal disorder nos
retinal disorder nos (disorder)
retinal disorder, nos
retinal disorders
retinopathies
retinopathy
retinopathy (disorder)
retinopathy, nos
unspecified retinal disorder
DOID
ICD10
UMLS
C0035309
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:23)
C0086543  |  cataract  |  6
C0011847  |  diabetes  |  5
C0456909  |  vision loss  |  4
C0456909  |  blindness  |  4
C0271051  |  macular oedema  |  2
C0017601  |  glaucoma  |  2
C0242852  |  proliferative vitreoretinopathy  |  2
C0034951  |  refractive errors  |  1
C0011884  |  diabetic retinopathy  |  1
C0031542  |  phlebitis  |  1
C0030343  |  panuveitis  |  1
C0020538  |  systemic hypertension  |  1
C0086543  |  cataracts  |  1
C0038379  |  strabismus  |  1
C0034951  |  refractive error  |  1
C0035309  |  retinopathy  |  1
C0011849  |  diabetes mellitus  |  1
C0024796  |  marfan syndrome  |  1
C0035305  |  retinal detachment  |  1
C0011860  |  type 2 diabetes  |  1
C0035304  |  retinal degeneration  |  1
C0282193  |  iron overload  |  1
C0271097  |  usher syndrome  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:175)
ERCC6  |  2074  |  UniProtKB-KW;GHR
LCA5  |  167691  |  UniProtKB-KW;GHR
TNF  |  7124  |  CTD_human
MAK  |  4117  |  UniProtKB-KW
ICAM1  |  3383  |  CTD_human
RIMS1  |  22999  |  UniProtKB-KW
CNNM4  |  26504  |  UniProtKB-KW
WDR19  |  57728  |  UniProtKB-KW;GHR
CACNA1F  |  778  |  UniProtKB-KW
PRPS1  |  5631  |  UniProtKB-KW
CEP290  |  80184  |  UniProtKB-KW;GHR
F13B  |  2165  |  GHR
RPGR  |  6103  |  UniProtKB-KW;GHR
APOE  |  348  |  GHR
C9  |  735  |  UniProtKB-KW
PDE6G  |  5148  |  UniProtKB-KW;GHR
PDE6A  |  5145  |  UniProtKB-KW;GHR
PDE6B  |  5158  |  UniProtKB-KW;GHR
TIMP3  |  7078  |  GHR
POC1B  |  282809  |  UniProtKB-KW
GNAT1  |  2779  |  UniProtKB-KW
GNAT2  |  2780  |  GHR
HMOX1  |  3162  |  CTD_human
NPHP4  |  261734  |  UniProtKB-KW
ELOVL4  |  6785  |  UniProtKB-KW;GHR
NEK2  |  4751  |  UniProtKB-KW
MMP9  |  4318  |  CTD_human
PRCD  |  768206  |  UniProtKB-KW;GHR
MT-ATP6  |  4508  |  UniProtKB-KW
RP2  |  6102  |  UniProtKB-KW;GHR
GNB3  |  2784  |  UniProtKB-KW
BBS2  |  583  |  UniProtKB-KW
CDH23  |  64072  |  UniProtKB-KW
NOS2  |  4843  |  CTD_human
GUCY2D  |  3000  |  UniProtKB-KW;GHR
SDCCAG8  |  10806  |  CTD_human;UniProtKB-KW
PTPRC  |  5788  |  CTD_human
MYO7A  |  4647  |  UniProtKB-KW
ALMS1  |  7840  |  UniProtKB-KW
LRP5  |  4041  |  GHR
USH1G  |  124590  |  UniProtKB-KW
USH1C  |  10083  |  UniProtKB-KW
CA4  |  762  |  UniProtKB-KW;GHR
TRAF3IP1  |  26146  |  UniProtKB-KW
FBLN5  |  10516  |  UniProtKB-KW;GHR
VSX1  |  30813  |  CTD_human
RD3  |  343035  |  UniProtKB-KW;GHR
PROM1  |  8842  |  UniProtKB-KW;GHR
PCDH15  |  65217  |  UniProtKB-KW
CX3CR1  |  1524  |  UniProtKB-KW;GHR
C2  |  717  |  GHR
PRPF3  |  9129  |  UniProtKB-KW;GHR
PRPF6  |  24148  |  UniProtKB-KW
PRPF4  |  9128  |  UniProtKB-KW
PRPF8  |  10594  |  UniProtKB-KW;GHR
ARL6  |  84100  |  UniProtKB-KW
CHAT  |  1103  |  CTD_human
PNPLA6  |  10908  |  UniProtKB-KW
RPE65  |  6121  |  UniProtKB-KW;GHR
SLC7A14  |  57709  |  UniProtKB-KW
VEGFA  |  7422  |  CTD_human
MFRP  |  83552  |  UniProtKB-KW
RPGRIP1  |  57096  |  UniProtKB-KW;GHR
NDP  |  4693  |  GHR
SNRNP200  |  23020  |  UniProtKB-KW;GHR
C2orf71  |  388939  |  UniProtKB-KW;GHR
COL9A1  |  1297  |  CTD_human
TULP1  |  7287  |  UniProtKB-KW;GHR
ABHD12  |  26090  |  UniProtKB-KW
NRL  |  4901  |  UniProtKB-KW;GHR
CST3  |  1471  |  UniProtKB-KW
LRAT  |  9227  |  UniProtKB-KW;GHR
PKD2  |  5311  |  CTD_human
RHO  |  6010  |  UniProtKB-KW;GHR
IFNA2  |  3440  |  CTD_human
SIRT1  |  23411  |  CTD_human
PDZD7  |  79955  |  UniProtKB-KW
PRPH2  |  5961  |  UniProtKB-KW;GHR
ZNF513  |  130557  |  UniProtKB-KW;GHR
AGBL5  |  60509  |  UniProtKB-KW
KCNJ13  |  3769  |  UniProtKB-KW
PEX7  |  5191  |  UniProtKB-KW
CERKL  |  375298  |  GHR
RBP3  |  5949  |  UniProtKB-KW;GHR
HMCN1  |  83872  |  UniProtKB-KW;GHR
NMNAT1  |  64802  |  UniProtKB-KW
VIM  |  7431  |  CTD_human
HARS  |  3035  |  UniProtKB-KW
TTPA  |  7274  |  CTD_human
RGR  |  5995  |  UniProtKB-KW;GHR
POMGNT1  |  55624  |  UniProtKB-KW
USH2A  |  7399  |  UniProtKB-KW;GHR
CHM  |  1121  |  GHR
FAM161A  |  84140  |  UniProtKB-KW;GHR
IMPDH1  |  3614  |  UniProtKB-KW;GHR
TTC8  |  123016  |  UniProtKB-KW;GHR
DHDDS  |  79947  |  UniProtKB-KW
CNGA3  |  1261  |  UniProtKB-KW;GHR
CNGA1  |  1259  |  UniProtKB-KW;GHR
ZNF408  |  79797  |  UniProtKB-KW
C3  |  718  |  UniProtKB-KW;GHR
GUCA1B  |  2979  |  UniProtKB-KW;GHR
PITPNM3  |  83394  |  UniProtKB-KW
ADAM9  |  8754  |  UniProtKB-KW
MERTK  |  10461  |  UniProtKB-KW;GHR
C8orf37  |  157657  |  UniProtKB-KW
EYS  |  346007  |  UniProtKB-KW;GHR
GRK1  |  6011  |  UniProtKB-KW
SAG  |  6295  |  UniProtKB-KW;GHR
TTLL5  |  23093  |  UniProtKB-KW
ASPM  |  259266  |  GHR
CFB  |  629  |  GHR
KCNV2  |  169522  |  UniProtKB-KW
RP9  |  6100  |  UniProtKB-KW;GHR
RP1  |  6101  |  UniProtKB-KW;GHR
IMPG2  |  50939  |  UniProtKB-KW;GHR
IQCB1  |  9657  |  UniProtKB-KW
TLR4  |  7099  |  UniProtKB-KW
CFH  |  3075  |  UniProtKB-KW;GHR
CFI  |  3426  |  UniProtKB-KW;GHR
PRPF31  |  26121  |  UniProtKB-KW;GHR
RLBP1  |  6017  |  GHR
CETP  |  1071  |  GHR
SPATA7  |  55812  |  UniProtKB-KW;GHR
CEP78  |  84131  |  UniProtKB-KW
BEST1  |  7439  |  UniProtKB-KW;GHR
SLC4A4  |  8671  |  UniProtKB-KW
FZD4  |  8322  |  CTD_human;GHR
RAB28  |  9364  |  UniProtKB-KW
TOPORS  |  10210  |  UniProtKB-KW;GHR
CLRN1  |  7401  |  UniProtKB-KW
HGSNAT  |  138050  |  UniProtKB-KW
MAP2  |  4133  |  GHR
PHYH  |  5264  |  UniProtKB-KW
LIPC  |  3990  |  GHR
RAX2  |  84839  |  UniProtKB-KW
PDGFB  |  5155  |  CTD_human
CFHR2  |  3080  |  GHR
CFHR4  |  10877  |  GHR
CFHR5  |  81494  |  GHR
DRAM2  |  128338  |  UniProtKB-KW
ARMS2  |  387715  |  UniProtKB-KW;GHR
CRB1  |  23418  |  UniProtKB-KW;GHR
FLVCR1  |  28982  |  UniProtKB-KW
REEP6  |  92840  |  UniProtKB-KW
NYX  |  60506  |  UniProtKB-KW
MTNR1A  |  4543  |  CTD_human
HTRA1  |  5654  |  UniProtKB-KW;GHR
CRX  |  1406  |  UniProtKB-KW;GHR
CIB2  |  10518  |  UniProtKB-KW
GDF6  |  392255  |  UniProtKB-KW
IFT172  |  26160  |  UniProtKB-KW
UNC119  |  9094  |  UniProtKB-KW
CDHR1  |  92211  |  UniProtKB-KW
KLHL7  |  55975  |  UniProtKB-KW;GHR
ROM1  |  6094  |  UniProtKB-KW;GHR
PDE6H  |  5149  |  GHR
PDE6C  |  5146  |  GHR
AIPL1  |  23746  |  UniProtKB-KW;GHR
LRIT3  |  345193  |  UniProtKB-KW
FSCN2  |  25794  |  GHR
PCYT1A  |  5130  |  UniProtKB-KW
OCLN  |  100506658  |  CTD_human
ABCA4  |  24  |  UniProtKB-KW;GHR
RDH12  |  145226  |  UniProtKB-KW;GHR
TRNT1  |  51095  |  UniProtKB-KW
GRM6  |  2916  |  UniProtKB-KW
CNGB3  |  54714  |  UniProtKB-KW;GHR
CNGB1  |  1258  |  UniProtKB-KW;GHR
THY1  |  7070  |  CTD_human
IDH3B  |  3420  |  UniProtKB-KW;GHR
GPR179  |  440435  |  UniProtKB-KW
TRPM1  |  4308  |  UniProtKB-KW
SEMA4A  |  64218  |  UniProtKB-KW;GHR
SLC24A1  |  9187  |  UniProtKB-KW
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:90)
24  |  ABCA4  |  infer
368  |  ABCC6  |  infer
23746  |  AIPL1  |  infer
7840  |  ALMS1  |  infer
335  |  APOA1  |  infer
348  |  APOE  |  infer
84100  |  ARL6  |  infer
387715  |  ARMS2  |  infer
582  |  BBS1  |  infer
79738  |  BBS10  |  infer
583  |  BBS2  |  infer
585  |  BBS4  |  infer
129880  |  BBS5  |  infer
55212  |  BBS7  |  infer
27241  |  BBS9  |  infer
7439  |  BEST1  |  infer
717  |  C2  |  infer
762  |  CA4  |  infer
57010  |  CABP4  |  infer
778  |  CACNA1F  |  infer
64072  |  CDH23  |  infer
80184  |  CEP290  |  infer
375298  |  CERKL  |  infer
629  |  CFB  |  infer
3075  |  CFH  |  infer
1259  |  CNGA1  |  infer
1261  |  CNGA3  |  infer
1258  |  CNGB1  |  infer
54714  |  CNGB3  |  infer
23418  |  CRB1  |  infer
1406  |  CRX  |  infer
2202  |  EFEMP1  |  infer
6785  |  ELOVL4  |  infer
2779  |  GNAT1  |  infer
2916  |  GRM6  |  infer
2978  |  GUCA1A  |  infer
3000  |  GUCY2D  |  infer
3614  |  IMPDH1  |  infer
9227  |  LRAT  |  infer
10461  |  MERTK  |  infer
4286  |  MITF  |  infer
8195  |  MKKS  |  infer
4647  |  MYO7A  |  infer
4653  |  MYOC  |  infer
4693  |  NDP  |  infer
10002  |  NR2E3  |  infer
2908  |  NR3C1  |  infer
4901  |  NRL  |  infer
60506  |  NYX  |  infer
4948  |  OCA2  |  infer
80207  |  OPA3  |  infer
5956  |  OPN1LW  |  infer
611  |  OPN1SW  |  infer
10133  |  OPTN  |  infer
5077  |  PAX3  |  infer
5080  |  PAX6  |  infer
65217  |  PCDH15  |  infer
5145  |  PDE6A  |  infer
5158  |  PDE6B  |  infer
9129  |  PRPF3  |  infer
26121  |  PRPF31  |  infer
10594  |  PRPF8  |  infer
145226  |  RDH12  |  infer
5959  |  RDH5  |  infer
5995  |  RGR  |  infer
6010  |  RHO  |  infer
22999  |  RIMS1  |  infer
6017  |  RLBP1  |  infer
6094  |  ROM1  |  infer
6101  |  RP1  |  infer
6102  |  RP2  |  infer
6100  |  RP9  |  infer
6121  |  RPE65  |  infer
6103  |  RPGR  |  infer
57096  |  RPGRIP1  |  infer
6247  |  RS1  |  infer
6295  |  SAG  |  infer
64218  |  SEMA4A  |  infer
7078  |  TIMP3  |  infer
22954  |  TRIM32  |  infer
123016  |  TTC8  |  infer
7274  |  TTPA  |  infer
7287  |  TULP1  |  infer
9094  |  UNC119  |  infer
10083  |  USH1C  |  infer
124590  |  USH1G  |  infer
7399  |  USH2A  |  infer
8322  |  FZD4  |  infer
4041  |  LRP5  |  infer
7422  |  VEGFA  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:1551)
253962  |  CACNA1G-AS1  |  DISEASES
100048912  |  CDKN2B-AS1  |  DISEASES
1080  |  CFTR  |  DISEASES
10083  |  USH1C  |  DISEASES
6376  |  CX3CL1  |  DISEASES
1407  |  CRY1  |  DISEASES
8993  |  PGLYRP1  |  DISEASES
972  |  CD74  |  DISEASES
4257  |  MGST1  |  DISEASES
1774  |  DNASE1L1  |  DISEASES
1015  |  CDH17  |  DISEASES
11285  |  B4GALT7  |  DISEASES
4653  |  MYOC  |  DISEASES
5009  |  OTC  |  DISEASES
54831  |  BEST2  |  DISEASES
1634  |  DCN  |  DISEASES
2978  |  GUCA1A  |  DISEASES
2767  |  GNA11  |  DISEASES
7132  |  TNFRSF1A  |  DISEASES
5837  |  PYGM  |  DISEASES
54474  |  KRT20  |  DISEASES
9817  |  KEAP1  |  DISEASES
50700  |  RDH8  |  DISEASES
4804  |  NGFR  |  DISEASES
10777  |  ARPP21  |  DISEASES
28962  |  OSTM1  |  DISEASES
50939  |  IMPG2  |  DISEASES
5019  |  OXCT1  |  DISEASES
1071  |  CETP  |  DISEASES
84572  |  GNPTG  |  DISEASES
1738  |  DLD  |  DISEASES
368  |  ABCC6  |  DISEASES
51168  |  MYO15A  |  DISEASES
350  |  APOH  |  DISEASES
7414  |  VCL  |  DISEASES
23411  |  SIRT1  |  DISEASES
4282  |  MIF  |  DISEASES
5594  |  MAPK1  |  DISEASES
1417  |  CRYBB3  |  DISEASES
1414  |  CRYBB1  |  DISEASES
7494  |  XBP1  |  DISEASES
3162  |  HMOX1  |  DISEASES
23551  |  RASD2  |  DISEASES
25828  |  TXN2  |  DISEASES
5816  |  PVALB  |  DISEASES
64781  |  CERK  |  DISEASES
11035  |  RIPK3  |  DISEASES
22795  |  NID2  |  DISEASES
1690  |  COCH  |  DISEASES
6554  |  SLC10A1  |  DISEASES
328  |  APEX1  |  DISEASES
1591  |  CYP24A1  |  DISEASES
5173  |  PDYN  |  DISEASES
2986  |  GUCY2F  |  DISEASES
2158  |  F9  |  DISEASES
282808  |  RAB40AL  |  DISEASES
6102  |  RP2  |  DISEASES
7076  |  TIMP1  |  DISEASES
4313  |  MMP2  |  DISEASES
84560  |  MT4  |  DISEASES
10204  |  NUTF2  |  DISEASES
869  |  CBLN1  |  DISEASES
23568  |  ARL2BP  |  DISEASES
6367  |  CCL22  |  DISEASES
9028  |  RHBDL1  |  DISEASES
3163  |  HMOX2  |  DISEASES
366  |  AQP9  |  DISEASES
2137  |  EXTL3  |  DISEASES
6101  |  RP1  |  DISEASES
1666  |  DECR1  |  DISEASES
5327  |  PLAT  |  DISEASES
2936  |  GSR  |  DISEASES
8797  |  TNFRSF10A  |  DISEASES
7288  |  TULP2  |  DISEASES
27294  |  DHDH  |  DISEASES
2217  |  FCGRT  |  DISEASES
57030  |  SLC17A7  |  DISEASES
84922  |  FIZ1  |  DISEASES
23581  |  CASP14  |  DISEASES
7040  |  TGFB1  |  DISEASES
973  |  CD79A  |  DISEASES
1406  |  CRX  |  DISEASES
6822  |  SULT2A1  |  DISEASES
10567  |  RABAC1  |  DISEASES
2057  |  EPOR  |  DISEASES
5864  |  RAB3A  |  DISEASES
23094  |  SIPA1L3  |  DISEASES
5444  |  PON1  |  DISEASES
3082  |  HGF  |  DISEASES
858  |  CAV2  |  DISEASES
23554  |  TSPAN12  |  DISEASES
1124  |  CHN2  |  DISEASES
7036  |  TFR2  |  DISEASES
5054  |  SERPINE1  |  DISEASES
4232  |  MEST  |  DISEASES
7431  |  VIM  |  DISEASES
5949  |  RBP3  |  DISEASES
6348  |  CCL3  |  DISEASES
4353  |  MPO  |  DISEASES
1411  |  CRYBA1  |  DISEASES
1440  |  CSF3  |  DISEASES
6198  |  RPS6KB1  |  DISEASES
2584  |  GALK1  |  DISEASES
6347  |  CCL2  |  DISEASES
2648  |  KAT2A  |  DISEASES
5957  |  RCVRN  |  DISEASES
7448  |  VTN  |  DISEASES
952  |  CD38  |  DISEASES
3558  |  IL2  |  DISEASES
1410  |  CRYAB  |  DISEASES
3312  |  HSPA8  |  DISEASES
595  |  CCND1  |  DISEASES
5829  |  PXN  |  DISEASES
81566  |  CSRNP2  |  DISEASES
3458  |  IFNG  |  DISEASES
2597  |  GAPDH  |  DISEASES
2784  |  GNB3  |  DISEASES
2026  |  ENO2  |  DISEASES
2729  |  GCLC  |  DISEASES
7287  |  TULP1  |  DISEASES
1432  |  MAPK14  |  DISEASES
7942  |  TFEB  |  DISEASES
2979  |  GUCA1B  |  DISEASES
5961  |  PRPH2  |  DISEASES
9450  |  LY86  |  DISEASES
4015  |  LOX  |  DISEASES
6678  |  SPARC  |  DISEASES
2916  |  GRM6  |  DISEASES
3565  |  IL4  |  DISEASES
3567  |  IL5  |  DISEASES
2908  |  NR3C1  |  DISEASES
57709  |  SLC7A14  |  DISEASES
5947  |  RBP1  |  DISEASES
2779  |  GNAT1  |  DISEASES
6787  |  NEK4  |  DISEASES
338  |  APOB  |  DISEASES
92840  |  REEP6  |  DISEASES
3485  |  IGFBP2  |  DISEASES
3488  |  IGFBP5  |  DISEASES
3769  |  KCNJ13  |  DISEASES
3554  |  IL1R1  |  DISEASES
5657  |  PRTN3  |  DISEASES
2023  |  ENO1  |  DISEASES
10560  |  SLC19A2  |  DISEASES
6402  |  SELL  |  DISEASES
1509  |  CTSD  |  DISEASES
335  |  APOA1  |  DISEASES
471  |  ATIC  |  DISEASES
7276  |  TTR  |  DISEASES
5311  |  PKD2  |  DISEASES
7043  |  TGFB3  |  DISEASES
84918  |  LRP11  |  DISEASES
1958  |  EGR1  |  DISEASES
27230  |  SERP1  |  DISEASES
3764  |  KCNJ8  |  DISEASES
2703  |  GJA8  |  DISEASES
847  |  CAT  |  DISEASES
2700  |  GJA3  |  DISEASES
4656  |  MYOG  |  DISEASES
27241  |  BBS9  |  DISEASES
4852  |  NPY  |  DISEASES
1211  |  CLTA  |  DISEASES
27019  |  DNAI1  |  DISEASES
540  |  ATP7B  |  DISEASES
29095  |  ORMDL2  |  DISEASES
1300  |  COL10A1  |  DISEASES
79809  |  TTC21B  |  DISEASES
7130  |  TNFAIP6  |  DISEASES
81579  |  PLA2G12A  |  DISEASES
6626  |  SNRPA  |  DISEASES
6431  |  SRSF6  |  DISEASES
6615  |  SNAI1  |  DISEASES
5184  |  PEPD  |  DISEASES
56269  |  IRGC  |  DISEASES
6903  |  TBCC  |  DISEASES
51299  |  NRN1  |  DISEASES
583  |  BBS2  |  DISEASES
5911  |  RAP2A  |  DISEASES
652  |  BMP4  |  DISEASES
57409  |  MIF4GD  |  DISEASES
80255  |  SLC35F5  |  DISEASES
718  |  C3  |  DISEASES
10047  |  CST8  |  DISEASES
8195  |  MKKS  |  DISEASES
7389  |  UROD  |  DISEASES
402  |  ARL2  |  DISEASES
5199  |  CFP  |  DISEASES
6495  |  SIX1  |  DISEASES
821  |  CANX  |  DISEASES
50832  |  TAS2R4  |  DISEASES
391013  |  PLA2G2C  |  DISEASES
3315  |  HSPB1  |  DISEASES
2952  |  GSTT1  |  DISEASES
25775  |  C22orf24  |  DISEASES
5880  |  RAC2  |  DISEASES
3976  |  LIF  |  DISEASES
84316  |  NAA38  |  DISEASES
58504  |  ARHGAP22  |  DISEASES
54567  |  DLL4  |  DISEASES
54982  |  CLN6  |  DISEASES
4654  |  MYOD1  |  DISEASES
968  |  CD68  |  DISEASES
6351  |  CCL4  |  DISEASES
15  |  AANAT  |  DISEASES
3630  |  INS  |  DISEASES
1258  |  CNGB1  |  DISEASES
84966  |  IGSF21  |  DISEASES
2780  |  GNAT2  |  DISEASES
79799  |  UGT2A3  |  DISEASES
64428  |  NARFL  |  DISEASES
3040  |  HBA2  |  DISEASES
3859  |  KRT12  |  DISEASES
2006  |  ELN  |  DISEASES
348  |  APOE  |  DISEASES
10452  |  TOMM40  |  DISEASES
55821  |  ALLC  |  DISEASES
10912  |  GADD45G  |  DISEASES
25873  |  RPL36  |  DISEASES
1463  |  NCAN  |  DISEASES
83483  |  PLVAP  |  DISEASES
2056  |  EPO  |  DISEASES
10343  |  PKDREJ  |  DISEASES
9584  |  RBM39  |  DISEASES
2670  |  GFAP  |  DISEASES
10328  |  EMC8  |  DISEASES
2161  |  F12  |  DISEASES
8431  |  NR0B2  |  DISEASES
3958  |  LGALS3  |  DISEASES
6382  |  SDC1  |  DISEASES
23335  |  WDR7  |  DISEASES
6538  |  SLC6A11  |  DISEASES
84034  |  EMILIN2  |  DISEASES
23378  |  RRP8  |  DISEASES
5176  |  SERPINF1  |  DISEASES
3000  |  GUCY2D  |  DISEASES
1401  |  CRP  |  DISEASES
5145  |  PDE6A  |  DISEASES
4608  |  MYBPH  |  DISEASES
123811  |  FOPNL  |  DISEASES
4922  |  NTS  |  DISEASES
759  |  CA1  |  DISEASES
10894  |  LYVE1  |  DISEASES
1965  |  EIF2S1  |  DISEASES
81494  |  CFHR5  |  DISEASES
187  |  APLNR  |  DISEASES
8739  |  HRK  |  DISEASES
4907  |  NT5E  |  DISEASES
5959  |  RDH5  |  DISEASES
4284  |  MIP  |  DISEASES
9038  |  TAAR5  |  DISEASES
10200  |  MPHOSPH6  |  DISEASES
80896  |  NPL  |  DISEASES
55213  |  RCBTB1  |  DISEASES
3569  |  IL6  |  DISEASES
10518  |  CIB2  |  DISEASES
10010  |  TANK  |  DISEASES
2995  |  GYPC  |  DISEASES
55363  |  HEMGN  |  DISEASES
5168  |  ENPP2  |  DISEASES
4856  |  NOV  |  DISEASES
55362  |  TMEM63B  |  DISEASES
8737  |  RIPK1  |  DISEASES
5460  |  POU5F1  |  DISEASES
7097  |  TLR2  |  DISEASES
7274  |  TTPA  |  DISEASES
4316  |  MMP7  |  DISEASES
2230  |  FDX1  |  DISEASES
7057  |  THBS1  |  DISEASES
26160  |  IFT172  |  DISEASES
1545  |  CYP1B1  |  DISEASES
6496  |  SIX3  |  DISEASES
3832  |  KIF11  |  DISEASES
403  |  ARL3  |  DISEASES
54536  |  EXOC6  |  DISEASES
9360  |  PPIG  |  DISEASES
1419  |  CRYGB  |  DISEASES
3685  |  ITGAV  |  DISEASES
1295  |  COL8A1  |  DISEASES
9626  |  GUCA1C  |  DISEASES
4069  |  LYZ  |  DISEASES
4040  |  LRP6  |  DISEASES
7450  |  VWF  |  DISEASES
10162  |  LPCAT3  |  DISEASES
55745  |  AP5M1  |  DISEASES
1535  |  CYBA  |  DISEASES
64398  |  MPP5  |  DISEASES
949  |  SCARB1  |  DISEASES
10961  |  ERP29  |  DISEASES
384  |  ARG2  |  DISEASES
5159  |  PDGFRB  |  DISEASES
10681  |  GNB5  |  DISEASES
8766  |  RAB11A  |  DISEASES
9187  |  SLC24A1  |  DISEASES
4016  |  LOXL1  |  DISEASES
2324  |  FLT4  |  DISEASES
338917  |  VSX2  |  DISEASES
3690  |  ITGB3  |  DISEASES
4087  |  SMAD2  |  DISEASES
4591  |  TRIM37  |  DISEASES
6121  |  RPE65  |  DISEASES
6505  |  SLC1A1  |  DISEASES
8787  |  RGS9  |  DISEASES
27130  |  INVS  |  DISEASES
9837  |  GINS1  |  DISEASES
83394  |  PITPNM3  |  DISEASES
5465  |  PPARA  |  DISEASES
7077  |  TIMP2  |  DISEASES
25939  |  SAMHD1  |  DISEASES
2769  |  GNA15  |  DISEASES
5595  |  MAPK3  |  DISEASES
10133  |  OPTN  |  DISEASES
5264  |  PHYH  |  DISEASES
7290  |  HIRA  |  DISEASES
6855  |  SYP  |  DISEASES
2033  |  EP300  |  DISEASES
4924  |  NUCB1  |  DISEASES
50507  |  NOX4  |  DISEASES
7299  |  TYR  |  DISEASES
3552  |  IL1A  |  DISEASES
3553  |  IL1B  |  DISEASES
5582  |  PRKCG  |  DISEASES
492  |  ATP2B3  |  DISEASES
3933  |  LCN1  |  DISEASES
1991  |  ELANE  |  DISEASES
6403  |  SELP  |  DISEASES
51430  |  SUCO  |  DISEASES
2034  |  EPAS1  |  DISEASES
55133  |  SRBD1  |  DISEASES
8647  |  ABCB11  |  DISEASES
9066  |  SYT7  |  DISEASES
3574  |  IL7  |  DISEASES
55850  |  USE1  |  DISEASES
3791  |  KDR  |  DISEASES
84708  |  LNX1  |  DISEASES
943  |  TNFRSF8  |  DISEASES
1001  |  CDH3  |  DISEASES
56912  |  IFT46  |  DISEASES
54431  |  DNAJC10  |  DISEASES
57192  |  MCOLN1  |  DISEASES
4811  |  NID1  |  DISEASES
84273  |  NOA1  |  DISEASES
1421  |  CRYGD  |  DISEASES
8452  |  CUL3  |  DISEASES
2891  |  GRIA2  |  DISEASES
7840  |  ALMS1  |  DISEASES
2247  |  FGF2  |  DISEASES
55212  |  BBS7  |  DISEASES
55081  |  IFT57  |  DISEASES
79083  |  MLPH  |  DISEASES
1356  |  CP  |  DISEASES
6774  |  STAT3  |  DISEASES
80725  |  SRCIN1  |  DISEASES
55325  |  UFSP2  |  DISEASES
3818  |  KLKB1  |  DISEASES
5443  |  POMC  |  DISEASES
11107  |  PRDM5  |  DISEASES
3383  |  ICAM1  |  DISEASES
131890  |  GRK7  |  DISEASES
2651  |  GCNT2  |  DISEASES
3827  |  KNG1  |  DISEASES
51726  |  DNAJB11  |  DISEASES
7879  |  RAB7A  |  DISEASES
1462  |  VCAN  |  DISEASES
1767  |  DNAH5  |  DISEASES
6507  |  SLC1A3  |  DISEASES
1950  |  EGF  |  DISEASES
7416  |  VDAC1  |  DISEASES
10371  |  SEMA3A  |  DISEASES
8829  |  NRP1  |  DISEASES
1390  |  CREM  |  DISEASES
54504  |  CPVL  |  DISEASES
793  |  CALB1  |  DISEASES
26229  |  B3GAT3  |  DISEASES
54806  |  AHI1  |  DISEASES
4885  |  NPTX2  |  DISEASES
10312  |  TCIRG1  |  DISEASES
8034  |  SLC25A16  |  DISEASES
53904  |  MYO3A  |  DISEASES
3263  |  HPX  |  DISEASES
9044  |  BTAF1  |  DISEASES
1795  |  DOCK3  |  DISEASES
24148  |  PRPF6  |  DISEASES
7078  |  TIMP3  |  DISEASES
775  |  CACNA1C  |  DISEASES
5149  |  PDE6H  |  DISEASES
4060  |  LUM  |  DISEASES
11081  |  KERA  |  DISEASES
283375  |  SLC39A5  |  DISEASES
6895  |  TARBP2  |  DISEASES
55716  |  LMBR1L  |  DISEASES
145226  |  RDH12  |  DISEASES
9321  |  TRIP11  |  DISEASES
6652  |  SORD  |  DISEASES
3480  |  IGF1R  |  DISEASES
585  |  BBS4  |  DISEASES
6017  |  RLBP1  |  DISEASES
4240  |  MFGE8  |  DISEASES
5373  |  PMM2  |  DISEASES
3687  |  ITGAX  |  DISEASES
9785  |  DHX38  |  DISEASES
81631  |  MAP1LC3B  |  DISEASES
1000  |  CDH2  |  DISEASES
80816  |  ASXL3  |  DISEASES
7157  |  TP53  |  DISEASES
6647  |  SOD1  |  DISEASES
207  |  AKT1  |  DISEASES
10469  |  TIMM44  |  DISEASES
2854  |  GPR32  |  DISEASES
6205  |  RPS11  |  DISEASES
84432  |  PROK1  |  DISEASES
83872  |  HMCN1  |  DISEASES
54507  |  ADAMTSL4  |  DISEASES
10899  |  JTB  |  DISEASES
5972  |  REN  |  DISEASES
64241  |  ABCG8  |  DISEASES
805  |  CALM2  |  DISEASES
51057  |  WDPCP  |  DISEASES
1261  |  CNGA3  |  DISEASES
151230  |  KLHL23  |  DISEASES
285362  |  SUMF1  |  DISEASES
132001  |  TAMM41  |  DISEASES
6508  |  SLC4A3  |  DISEASES
10550  |  ARL6IP5  |  DISEASES
185  |  AGTR1  |  DISEASES
1609  |  DGKQ  |  DISEASES
345274  |  SLC10A6  |  DISEASES
1404  |  HAPLN1  |  DISEASES
5921  |  RASA1  |  DISEASES
3578  |  IL9  |  DISEASES
3779  |  KCNMB1  |  DISEASES
3484  |  IGFBP1  |  DISEASES
142685  |  ASB15  |  DISEASES
2041  |  EPHA1  |  DISEASES
85479  |  DNAJC5B  |  DISEASES
123  |  PLIN2  |  DISEASES
10280  |  SIGMAR1  |  DISEASES
4915  |  NTRK2  |  DISEASES
4851  |  NOTCH1  |  DISEASES
133  |  ADM  |  DISEASES
55327  |  LIN7C  |  DISEASES
7356  |  SCGB1A1  |  DISEASES
6506  |  SLC1A2  |  DISEASES
710  |  SERPING1  |  DISEASES
726  |  CAPN5  |  DISEASES
6094  |  ROM1  |  DISEASES
90952  |  ESAM  |  DISEASES
4319  |  MMP10  |  DISEASES
219854  |  TMEM218  |  DISEASES
3176  |  HNMT  |  DISEASES
132851  |  SPATA4  |  DISEASES
7424  |  VEGFC  |  DISEASES
3606  |  IL18  |  DISEASES
196383  |  RILPL2  |  DISEASES
23657  |  SLC7A11  |  DISEASES
196463  |  PLBD2  |  DISEASES
5458  |  POU4F2  |  DISEASES
5281  |  PIGF  |  DISEASES
7082  |  TJP1  |  DISEASES
60558  |  GUF1  |  DISEASES
5741  |  PTH  |  DISEASES
1420  |  CRYGC  |  DISEASES
2321  |  FLT1  |  DISEASES
2893  |  GRIA4  |  DISEASES
5013  |  OTX1  |  DISEASES
2697  |  GJA1  |  DISEASES
2911  |  GRM1  |  DISEASES
170692  |  ADAMTS18  |  DISEASES
1070  |  CETN3  |  DISEASES
79888  |  LPCAT1  |  DISEASES
22934  |  RPIA  |  DISEASES
23576  |  DDAH1  |  DISEASES
8526  |  DGKE  |  DISEASES
7070  |  THY1  |  DISEASES
7345  |  UCHL1  |  DISEASES
89780  |  WNT3A  |  DISEASES
23643  |  LY96  |  DISEASES
351  |  APP  |  DISEASES
760  |  CA2  |  DISEASES
2890  |  GRIA1  |  DISEASES
231  |  AKR1B1  |  DISEASES
1562  |  CYP2C18  |  DISEASES
145483  |  FAM161B  |  DISEASES
157657  |  C8orf37  |  DISEASES
5470  |  PPEF2  |  DISEASES
392255  |  GDF6  |  DISEASES
6156  |  RPL30  |  DISEASES
5147  |  PDE6D  |  DISEASES
6750  |  SST  |  DISEASES
6529  |  SLC6A1  |  DISEASES
5468  |  PPARG  |  DISEASES
8321  |  FZD1  |  DISEASES
3815  |  KIT  |  DISEASES
776  |  CACNA1D  |  DISEASES
26060  |  APPL1  |  DISEASES
9162  |  DGKI  |  DISEASES
56896  |  DPYSL5  |  DISEASES
4690  |  NCK1  |  DISEASES
2176  |  FANCC  |  DISEASES
9669  |  EIF5B  |  DISEASES
653361  |  NCF1  |  DISEASES
1013  |  CDH15  |  DISEASES
57369  |  GJD2  |  DISEASES
112950  |  MED8  |  DISEASES
1636  |  ACE  |  DISEASES
808  |  CALM3  |  DISEASES
1409  |  CRYAA  |  DISEASES
81543  |  LRRC3  |  DISEASES
6285  |  S100B  |  DISEASES
729230  |  CCR2  |  DISEASES
5130  |  PCYT1A  |  DISEASES
6352  |  CCL5  |  DISEASES
581  |  BAX  |  DISEASES
3856  |  KRT8  |  DISEASES
121214  |  SDR9C7  |  DISEASES
1742  |  DLG4  |  DISEASES
4041  |  LRP5  |  DISEASES
9965  |  FGF19  |  DISEASES
7412  |  VCAM1  |  DISEASES
5937  |  RBMS1  |  DISEASES
4760  |  NEUROD1  |  DISEASES
129880  |  BBS5  |  DISEASES
27306  |  HPGDS  |  DISEASES
90957  |  DHX57  |  DISEASES
10461  |  MERTK  |  DISEASES
56983  |  POGLUT1  |  DISEASES
4286  |  MITF  |  DISEASES
6051  |  RNPEP  |  DISEASES
3490  |  IGFBP7  |  DISEASES
9497  |  SLC4A7  |  DISEASES
79411  |  GLB1L  |  DISEASES
213  |  ALB  |  DISEASES
8820  |  HESX1  |  DISEASES
84818  |  IL17RC  |  DISEASES
5473  |  PPBP  |  DISEASES
5196  |  PF4  |  DISEASES
57619  |  SHROOM3  |  DISEASES
54585  |  LZTFL1  |  DISEASES
55764  |  IFT122  |  DISEASES
6010  |  RHO  |  DISEASES
149461  |  CLDN19  |  DISEASES
8927  |  BSN  |  DISEASES
256471  |  MFSD8  |  DISEASES
8819  |  SAP30  |  DISEASES
308  |  ANXA5  |  DISEASES
80155  |  NAA15  |  DISEASES
3600  |  IL15  |  DISEASES
11157  |  LSM6  |  DISEASES
4131  |  MAP1B  |  DISEASES
7098  |  TLR3  |  DISEASES
3562  |  IL3  |  DISEASES
1437  |  CSF2  |  DISEASES
6100  |  RP9  |  DISEASES
6469  |  SHH  |  DISEASES
25798  |  BRI3  |  DISEASES
4846  |  NOS3  |  DISEASES
25962  |  KIAA1429  |  DISEASES
64753  |  CCDC136  |  DISEASES
203286  |  ANKS6  |  DISEASES
115825  |  WDFY2  |  DISEASES
58157  |  NGB  |  DISEASES
90167  |  FRMD7  |  DISEASES
29986  |  SLC39A2  |  DISEASES
10206  |  TRIM13  |  DISEASES
23093  |  TTLL5  |  DISEASES
5267  |  SERPINA4  |  DISEASES
3990  |  LIPC  |  DISEASES
1200  |  TPP1  |  DISEASES
146167  |  SLC38A8  |  DISEASES
4314  |  MMP3  |  DISEASES
290  |  ANPEP  |  DISEASES
6866  |  TAC3  |  DISEASES
2793  |  GNGT2  |  DISEASES
5245  |  PHB  |  DISEASES
5469  |  MED1  |  DISEASES
762  |  CA4  |  DISEASES
4218  |  RAB8A  |  DISEASES
558  |  AXL  |  DISEASES
4909  |  NTF4  |  DISEASES
3816  |  KLK1  |  DISEASES
51129  |  ANGPTL4  |  DISEASES
3489  |  IGFBP6  |  DISEASES
148156  |  ZNF558  |  DISEASES
1581  |  CYP7A1  |  DISEASES
80150  |  ASRGL1  |  DISEASES
25924  |  MYRIP  |  DISEASES
719  |  C3AR1  |  DISEASES
3960  |  LGALS4  |  DISEASES
5617  |  PRL  |  DISEASES
6356  |  CCL11  |  DISEASES
56890  |  MDM1  |  DISEASES
598  |  BCL2L1  |  DISEASES
64581  |  CLEC7A  |  DISEASES
7343  |  UBTF  |  DISEASES
4902  |  NRTN  |  DISEASES
3479  |  IGF1  |  DISEASES
2357  |  FPR1  |  DISEASES
2990  |  GUSB  |  DISEASES
3603  |  IL16  |  DISEASES
3308  |  HSPA4  |  DISEASES
10648  |  SCGB1D1  |  DISEASES
9723  |  SEMA3E  |  DISEASES
8988  |  HSPB3  |  DISEASES
257019  |  FRMD3  |  DISEASES
5190  |  PEX6  |  DISEASES
6869  |  TACR1  |  DISEASES
165215  |  FAM171B  |  DISEASES
7857  |  SCG2  |  DISEASES
5308  |  PITX2  |  DISEASES
10594  |  PRPF8  |  DISEASES
90693  |  CCDC126  |  DISEASES
171558  |  PTCRA  |  DISEASES
79071  |  ELOVL6  |  DISEASES
5028  |  P2RY1  |  DISEASES
55283  |  MCOLN3  |  DISEASES
3667  |  IRS1  |  DISEASES
3596  |  IL13  |  DISEASES
54538  |  ROBO4  |  DISEASES
8419  |  BFSP2  |  DISEASES
440533  |  PSG8  |  DISEASES
5579  |  PRKCB  |  DISEASES
7275  |  TUB  |  DISEASES
8862  |  APLN  |  DISEASES
2237  |  FEN1  |  DISEASES
115861  |  NXNL1  |  DISEASES
3627  |  CXCL10  |  DISEASES
8436  |  SDPR  |  DISEASES
1296  |  COL8A2  |  DISEASES
7399  |  USH2A  |  DISEASES
378  |  ARF4  |  DISEASES
2353  |  FOS  |  DISEASES
84275  |  SLC25A33  |  DISEASES
7569  |  ZNF182  |  DISEASES
4968  |  OGG1  |  DISEASES
56246  |  MRAP  |  DISEASES
54910  |  SEMA4C  |  DISEASES
157570  |  ESCO2  |  DISEASES
1473  |  CST5  |  DISEASES
1501  |  CTNND2  |  DISEASES
9451  |  EIF2AK3  |  DISEASES
54541  |  DDIT4  |  DISEASES
1241  |  LTB4R  |  DISEASES
794  |  CALB2  |  DISEASES
143941  |  TTC36  |  DISEASES
54205  |  CYCS  |  DISEASES
27087  |  B3GAT1  |  DISEASES
2752  |  GLUL  |  DISEASES
4323  |  MMP14  |  DISEASES
89866  |  SEC16B  |  DISEASES
9934  |  P2RY14  |  DISEASES
27289  |  RND1  |  DISEASES
2147  |  F2  |  DISEASES
134  |  ADORA1  |  DISEASES
29984  |  RHOD  |  DISEASES
6363  |  CCL19  |  DISEASES
5340  |  PLG  |  DISEASES
1212  |  CLTB  |  DISEASES
92196  |  DAPL1  |  DISEASES
79797  |  ZNF408  |  DISEASES
55320  |  MIS18BP1  |  DISEASES
3265  |  HRAS  |  DISEASES
947  |  CD34  |  DISEASES
27165  |  GLS2  |  DISEASES
79884  |  MAP9  |  DISEASES
9420  |  CYP7B1  |  DISEASES
6208  |  RPS14  |  DISEASES
836  |  CASP3  |  DISEASES
7423  |  VEGFB  |  DISEASES
358  |  AQP1  |  DISEASES
5870  |  RAB6A  |  DISEASES
2944  |  GSTM1  |  DISEASES
9657  |  IQCB1  |  DISEASES
407  |  ARR3  |  DISEASES
2250  |  FGF5  |  DISEASES
1488  |  CTBP2  |  DISEASES
23589  |  CARHSP1  |  DISEASES
5771  |  PTPN2  |  DISEASES
7351  |  UCP2  |  DISEASES
1427  |  CRYGS  |  DISEASES
5553  |  PRG2  |  DISEASES
8639  |  AOC3  |  DISEASES
8557  |  TCAP  |  DISEASES
3952  |  LEP  |  DISEASES
835  |  CASP2  |  DISEASES
219902  |  TMEM136  |  DISEASES
5431  |  POLR2B  |  DISEASES
57560  |  IFT80  |  DISEASES
3172  |  HNF4A  |  DISEASES
4117  |  MAK  |  DISEASES
4867  |  NPHP1  |  DISEASES
80025  |  PANK2  |  DISEASES
25980  |  AAR2  |  DISEASES
94033  |  FTMT  |  DISEASES
80169  |  CTC1  |  DISEASES
64689  |  GORASP1  |  DISEASES
4179  |  CD46  |  DISEASES
4482  |  MSRA  |  DISEASES
3078  |  CFHR1  |  DISEASES
285  |  ANGPT2  |  DISEASES
10692  |  RRH  |  DISEASES
1191  |  CLU  |  DISEASES
9129  |  PRPF3  |  DISEASES
7566  |  ZNF18  |  DISEASES
1604  |  CD55  |  DISEASES
9229  |  DLGAP1  |  DISEASES
138009  |  DCAF4L2  |  DISEASES
54714  |  CNGB3  |  DISEASES
5306  |  PITPNA  |  DISEASES
23020  |  SNRNP200  |  DISEASES
4233  |  MET  |  DISEASES
63973  |  NEUROG2  |  DISEASES
2744  |  GLS  |  DISEASES
120103  |  SLC36A4  |  DISEASES
582  |  BBS1  |  DISEASES
51332  |  SPTBN5  |  DISEASES
9475  |  ROCK2  |  DISEASES
8939  |  FUBP3  |  DISEASES
150696  |  PROM2  |  DISEASES
55603  |  FAM46A  |  DISEASES
130557  |  ZNF513  |  DISEASES
4684  |  NCAM1  |  DISEASES
23621  |  BACE1  |  DISEASES
1582  |  CYP8B1  |  DISEASES
1068  |  CETN1  |  DISEASES
166379  |  BBS12  |  DISEASES
26526  |  TSPAN16  |  DISEASES
79369  |  B3GNT4  |  DISEASES
63951  |  DMRTA1  |  DISEASES
1728  |  NQO1  |  DISEASES
124590  |  USH1G  |  DISEASES
84179  |  MFSD7  |  DISEASES
54943  |  DNAJC28  |  DISEASES
10938  |  EHD1  |  DISEASES
9370  |  ADIPOQ  |  DISEASES
51174  |  TUBD1  |  DISEASES
23765  |  IL17RA  |  DISEASES
6863  |  TAC1  |  DISEASES
9806  |  SPOCK2  |  DISEASES
4018  |  LPA  |  DISEASES
1730  |  DIAPH2  |  DISEASES
23539  |  SLC16A8  |  DISEASES
8818  |  DPM2  |  DISEASES
57605  |  PITPNM2  |  DISEASES
3992  |  FADS1  |  DISEASES
23350  |  U2SURP  |  DISEASES
3039  |  HBA1  |  DISEASES
246330  |  PELI3  |  DISEASES
379  |  ARL4D  |  DISEASES
4312  |  MMP1  |  DISEASES
282809  |  POC1B  |  DISEASES
148109  |  FAM187B  |  DISEASES
8100  |  IFT88  |  DISEASES
6657  |  SOX2  |  DISEASES
2  |  A2M  |  DISEASES
26121  |  PRPF31  |  DISEASES
3309  |  HSPA5  |  DISEASES
283518  |  KCNRG  |  DISEASES
4642  |  MYO1D  |  DISEASES
3909  |  LAMA3  |  DISEASES
2932  |  GSK3B  |  DISEASES
57010  |  CABP4  |  DISEASES
9622  |  KLK4  |  DISEASES
161882  |  ZFPM1  |  DISEASES
4094  |  MAF  |  DISEASES
80821  |  DDHD1  |  DISEASES
4843  |  NOS2  |  DISEASES
284359  |  IZUMO1  |  DISEASES
5034  |  P4HB  |  DISEASES
11260  |  XPOT  |  DISEASES
339184  |  CCDC144NL  |  DISEASES
716  |  C1S  |  DISEASES
9241  |  NOG  |  DISEASES
2055  |  CLN8  |  DISEASES
9735  |  KNTC1  |  DISEASES
140460  |  ASB7  |  DISEASES
1606  |  DGKA  |  DISEASES
5148  |  PDE6G  |  DISEASES
9364  |  RAB28  |  DISEASES
4990  |  SIX6  |  DISEASES
147719  |  LYPD4  |  DISEASES
706  |  TSPO  |  DISEASES
4166  |  CHST6  |  DISEASES
7401  |  CLRN1  |  DISEASES
246329  |  STAC3  |  DISEASES
10572  |  SIVA1  |  DISEASES
3855  |  KRT7  |  DISEASES
6667  |  SP1  |  DISEASES
50616  |  IL22  |  DISEASES
286753  |  TUSC5  |  DISEASES
115749  |  C12orf56  |  DISEASES
29110  |  TBK1  |  DISEASES
1915  |  EEF1A1  |  DISEASES
842  |  CASP9  |  DISEASES
9021  |  SOCS3  |  DISEASES
5155  |  PDGFB  |  DISEASES
28955  |  DEXI  |  DISEASES
9951  |  HS3ST4  |  DISEASES
25834  |  MGAT4C  |  DISEASES
6401  |  SELE  |  DISEASES
201475  |  RAB12  |  DISEASES
2621  |  GAS6  |  DISEASES
1675  |  CFD  |  DISEASES
23545  |  ATP6V0A2  |  DISEASES
391712  |  TRIM61  |  DISEASES
144453  |  BEST3  |  DISEASES
4887  |  NPY2R  |  DISEASES
80311  |  KLHL15  |  DISEASES
388939  |  C2orf71  |  DISEASES
4088  |  SMAD3  |  DISEASES
2689  |  GH2  |  DISEASES
9877  |  ZC3H11A  |  DISEASES
3916  |  LAMP1  |  DISEASES
6297  |  SALL2  |  DISEASES
682  |  BSG  |  DISEASES
3043  |  HBB  |  DISEASES
23265  |  EXOC7  |  DISEASES
5332  |  PLCB4  |  DISEASES
388531  |  RGS9BP  |  DISEASES
2152  |  F3  |  DISEASES
219699  |  UNC5B  |  DISEASES
84068  |  SLC10A7  |  DISEASES
25794  |  FSCN2  |  DISEASES
344658  |  SAMD7  |  DISEASES
6011  |  GRK1  |  DISEASES
5787  |  PTPRB  |  DISEASES
84937  |  ZNRF1  |  DISEASES
3320  |  HSP90AA1  |  DISEASES
26207  |  PITPNC1  |  DISEASES
8856  |  NR1I2  |  DISEASES
30850  |  CDR2L  |  DISEASES
3842  |  TNPO1  |  DISEASES
283  |  ANG  |  DISEASES
468  |  ATF4  |  DISEASES
5357  |  PLS1  |  DISEASES
1058  |  CENPA  |  DISEASES
84146  |  ZNF644  |  DISEASES
9094  |  UNC119  |  DISEASES
9227  |  LRAT  |  DISEASES
9138  |  ARHGEF1  |  DISEASES
114548  |  NLRP3  |  DISEASES
64359  |  NXN  |  DISEASES
10948  |  STARD3  |  DISEASES
4842  |  NOS1  |  DISEASES
1641  |  DCX  |  DISEASES
139212  |  PIH1D3  |  DISEASES
5873  |  RAB27A  |  DISEASES
64386  |  MMP25  |  DISEASES
143098  |  MPP7  |  DISEASES
1576  |  CYP3A4  |  DISEASES
57701  |  NCKAP5L  |  DISEASES
3091  |  HIF1A  |  DISEASES
51263  |  MRPL30  |  DISEASES
554  |  AVPR2  |  DISEASES
221468  |  TMEM217  |  DISEASES
3983  |  ABLIM1  |  DISEASES
55205  |  ZNF532  |  DISEASES
64412  |  GZF1  |  DISEASES
6622  |  SNCA  |  DISEASES
23548  |  TTC33  |  DISEASES
2246  |  FGF1  |  DISEASES
28968  |  SLC6A16  |  DISEASES
27031  |  NPHP3  |  DISEASES
7430  |  EZR  |  DISEASES
3266  |  ERAS  |  DISEASES
857  |  CAV1  |  DISEASES
6540  |  SLC6A13  |  DISEASES
23275  |  POFUT2  |  DISEASES
51315  |  KRCC1  |  DISEASES
11030  |  RBPMS  |  DISEASES
966  |  CD59  |  DISEASES
1982  |  EIF4G2  |  DISEASES
60506  |  NYX  |  DISEASES
6609  |  SMPD1  |  DISEASES
5493  |  PPL  |  DISEASES
4128  |  MAOA  |  DISEASES
4208  |  MEF2C  |  DISEASES
27098  |  CLUL1  |  DISEASES
347344  |  ZNF81  |  DISEASES
375298  |  CERKL  |  DISEASES
5747  |  PTK2  |  DISEASES
55171  |  TBCCD1  |  DISEASES
51094  |  ADIPOR1  |  DISEASES
6187  |  RPS2  |  DISEASES
9588  |  PRDX6  |  DISEASES
5132  |  PDC  |  DISEASES
1508  |  CTSB  |  DISEASES
148398  |  SAMD11  |  DISEASES
79598  |  CEP97  |  DISEASES
921  |  CD5  |  DISEASES
3146  |  HMGB1  |  DISEASES
55975  |  KLHL7  |  DISEASES
9474  |  ATG5  |  DISEASES
90522  |  YIF1B  |  DISEASES
23405  |  DICER1  |  DISEASES
5015  |  OTX2  |  DISEASES
1003  |  CDH5  |  DISEASES
3605  |  IL17A  |  DISEASES
94241  |  TP53INP1  |  DISEASES
8481  |  OFD1  |  DISEASES
55785  |  FGD6  |  DISEASES
1499  |  CTNNB1  |  DISEASES
875  |  CBS  |  DISEASES
5757  |  PTMA  |  DISEASES
755  |  C21orf2  |  DISEASES
84075  |  FSCB  |  DISEASES
89944  |  GLB1L2  |  DISEASES
162966  |  ZNF600  |  DISEASES
25769  |  SLC24A2  |  DISEASES
55972  |  SLC25A40  |  DISEASES
84747  |  UNC119B  |  DISEASES
10516  |  FBLN5  |  DISEASES
56479  |  KCNQ5  |  DISEASES
440435  |  GPR179  |  DISEASES
3614  |  IMPDH1  |  DISEASES
2035  |  EPB41  |  DISEASES
57556  |  SEMA6A  |  DISEASES
54788  |  DNAJB12  |  DISEASES
3767  |  KCNJ11  |  DISEASES
6122  |  RPL3  |  DISEASES
302  |  ANXA2  |  DISEASES
6146  |  RPL22  |  DISEASES
6890  |  TAP1  |  DISEASES
4205  |  MEF2A  |  DISEASES
10533  |  ATG7  |  DISEASES
5154  |  PDGFA  |  DISEASES
64094  |  SMOC2  |  DISEASES
2534  |  FYN  |  DISEASES
54898  |  ELOVL2  |  DISEASES
2331  |  FMOD  |  DISEASES
64218  |  SEMA4A  |  DISEASES
728  |  C5AR1  |  DISEASES
100506658  |  OCLN  |  DISEASES
55107  |  ANO1  |  DISEASES
55750  |  AGK  |  DISEASES
2202  |  EFEMP1  |  DISEASES
80781  |  COL18A1  |  DISEASES
1717  |  DHCR7  |  DISEASES
331  |  XIAP  |  DISEASES
144100  |  PLEKHA7  |  DISEASES
1785  |  DNM2  |  DISEASES
5979  |  RET  |  DISEASES
355  |  FAS  |  DISEASES
5265  |  SERPINA1  |  DISEASES
3240  |  HP  |  DISEASES
5879  |  RAC1  |  DISEASES
9600  |  PITPNM1  |  DISEASES
92359  |  CRB3  |  DISEASES
3683  |  ITGAL  |  DISEASES
801  |  CALM1  |  DISEASES
27198  |  HCAR1  |  DISEASES
2980  |  GUCA2A  |  DISEASES
987  |  LRBA  |  DISEASES
60  |  ACTB  |  DISEASES
6752  |  SSTR2  |  DISEASES
83875  |  BCO2  |  DISEASES
4097  |  MAFG  |  DISEASES
1121  |  CHM  |  DISEASES
26151  |  NAT9  |  DISEASES
57835  |  SLC4A5  |  DISEASES
10987  |  COPS5  |  DISEASES
340784  |  HMX3  |  DISEASES
90410  |  IFT20  |  DISEASES
5079  |  PAX5  |  DISEASES
871  |  SERPINH1  |  DISEASES
6714  |  SRC  |  DISEASES
4763  |  NF1  |  DISEASES
1524  |  CX3CR1  |  DISEASES
3698  |  ITIH2  |  DISEASES
1969  |  EPHA2  |  DISEASES
841  |  CASP8  |  DISEASES
157680  |  VPS13B  |  DISEASES
405  |  ARNT  |  DISEASES
2996  |  GYPE  |  DISEASES
2526  |  FUT4  |  DISEASES
56980  |  PRDM10  |  DISEASES
7415  |  VCP  |  DISEASES
7048  |  TGFBR2  |  DISEASES
4217  |  MAP3K5  |  DISEASES
9332  |  CD163  |  DISEASES
5995  |  RGR  |  DISEASES
2013  |  EMP2  |  DISEASES
799  |  CALCR  |  DISEASES
126014  |  OSCAR  |  DISEASES
93034  |  NT5C1B  |  DISEASES
1201  |  CLN3  |  DISEASES
6427  |  SRSF2  |  DISEASES
79947  |  DHDDS  |  DISEASES
7037  |  TFRC  |  DISEASES
6693  |  SPN  |  DISEASES
60509  |  AGBL5  |  DISEASES
222662  |  LHFPL5  |  DISEASES
773  |  CACNA1A  |  DISEASES
2157  |  F8  |  DISEASES
4478  |  MSN  |  DISEASES
5599  |  MAPK8  |  DISEASES
4133  |  MAP2  |  DISEASES
343171  |  OR2W3  |  DISEASES
8828  |  NRP2  |  DISEASES
4311  |  MME  |  DISEASES
1803  |  DPP4  |  DISEASES
10210  |  TOPORS  |  DISEASES
115294  |  PCMTD1  |  DISEASES
6536  |  SLC6A9  |  DISEASES
578  |  BAK1  |  DISEASES
6238  |  RRBP1  |  DISEASES
6533  |  SLC6A6  |  DISEASES
80331  |  DNAJC5  |  DISEASES
6772  |  STAT1  |  DISEASES
4512  |  MT-CO1  |  DISEASES
4519  |  MT-CYB  |  DISEASES
2475  |  MTOR  |  DISEASES
676  |  BRDT  |  DISEASES
4508  |  MT-ATP6  |  DISEASES
4541  |  MT-ND6  |  DISEASES
4976  |  OPA1  |  DISEASES
4540  |  MT-ND5  |  DISEASES
10724  |  MGEA5  |  DISEASES
5475  |  PPEF1  |  DISEASES
4283  |  CXCL9  |  DISEASES
1756  |  DMD  |  DISEASES
65217  |  PCDH15  |  DISEASES
4538  |  MT-ND4  |  DISEASES
51734  |  MSRB1  |  DISEASES
56670  |  SUCNR1  |  DISEASES
8678  |  BECN1  |  DISEASES
23038  |  WDTC1  |  DISEASES
1527  |  TEX28  |  DISEASES
1270  |  CNTF  |  DISEASES
93474  |  ZNF670  |  DISEASES
10806  |  SDCCAG8  |  DISEASES
1122  |  CHML  |  DISEASES
23596  |  OPN3  |  DISEASES
6000  |  RGS7  |  DISEASES
6905  |  TBCE  |  DISEASES
54583  |  EGLN1  |  DISEASES
183  |  AGT  |  DISEASES
22796  |  COG2  |  DISEASES
116841  |  SNAP47  |  DISEASES
7058  |  THBS2  |  DISEASES
142  |  PARP1  |  DISEASES
2058  |  EPRS  |  DISEASES
7042  |  TGFB2  |  DISEASES
28982  |  FLVCR1  |  DISEASES
343035  |  RD3  |  DISEASES
3664  |  IRF6  |  DISEASES
5362  |  PLXNA2  |  DISEASES
39  |  ACAT2  |  DISEASES
1378  |  CR1  |  DISEASES
6648  |  SOD2  |  DISEASES
1380  |  CR2  |  DISEASES
722  |  C4BPA  |  DISEASES
6993  |  DYNLT1  |  DISEASES
26254  |  OPTC  |  DISEASES
5788  |  PTPRC  |  DISEASES
23418  |  CRB1  |  DISEASES
2165  |  F13B  |  DISEASES
3080  |  CFHR2  |  DISEASES
10877  |  CFHR4  |  DISEASES
10878  |  CFHR3  |  DISEASES
3075  |  CFH  |  DISEASES
5743  |  PTGS2  |  DISEASES
6004  |  RGS16  |  DISEASES
462  |  SERPINC1  |  DISEASES
356  |  FASLG  |  DISEASES
1805  |  DPT  |  DISEASES
22926  |  ATF6  |  DISEASES
1490  |  CTGF  |  DISEASES
9970  |  NR1I3  |  DISEASES
84134  |  TOMM40L  |  DISEASES
5824  |  PEX19  |  DISEASES
3766  |  KCNJ10  |  DISEASES
10763  |  NES  |  DISEASES
1942  |  EFNA1  |  DISEASES
6280  |  S100A9  |  DISEASES
4942  |  OAT  |  DISEASES
262  |  AMD1  |  DISEASES
246269  |  LACE1  |  DISEASES
5654  |  HTRA1  |  DISEASES
1520  |  CTSS  |  DISEASES
7101  |  NR2E1  |  DISEASES
59338  |  PLEKHA1  |  DISEASES
11231  |  SEC63  |  DISEASES
2209  |  FCGR1A  |  DISEASES
153  |  ADRB1  |  DISEASES
10628  |  TXNIP  |  DISEASES
840  |  CASP7  |  DISEASES
9659  |  PDE4DIP  |  DISEASES
4803  |  NGF  |  DISEASES
8517  |  IKBKG  |  DISEASES
8266  |  UBL4A  |  DISEASES
140  |  ADORA3  |  DISEASES
128344  |  PIFO  |  DISEASES
90025  |  UBE3D  |  DISEASES
6785  |  ELOVL4  |  DISEASES
167691  |  LCA5  |  DISEASES
2316  |  FLNA  |  DISEASES
728447  |  TEX28P1  |  DISEASES
2652  |  OPN1MW  |  DISEASES
653363  |  TEX28P2  |  DISEASES
3617  |  IMPG1  |  DISEASES
5956  |  OPN1LW  |  DISEASES
4646  |  MYO6  |  DISEASES
5309  |  PITX3  |  DISEASES
1301  |  COL11A1  |  DISEASES
79955  |  PDZD7  |  DISEASES
24  |  ABCA4  |  DISEASES
2730  |  GCLM  |  DISEASES
79627  |  OGFRL1  |  DISEASES
60682  |  SMAP1  |  DISEASES
2258  |  FGF13  |  DISEASES
959  |  CD40LG  |  DISEASES
55361  |  PI4K2A  |  DISEASES
401265  |  KLHL31  |  DISEASES
5314  |  PKHD1  |  DISEASES
1791  |  DNTT  |  DISEASES
953  |  ENTPD1  |  DISEASES
3725  |  JUN  |  DISEASES
4070  |  TACSTD2  |  DISEASES
9211  |  LGI1  |  DISEASES
5146  |  PDE6C  |  DISEASES
5950  |  RBP4  |  DISEASES
6512  |  SLC1A7  |  DISEASES
128553  |  TSHZ2  |  DISEASES
202500  |  TCTE1  |  DISEASES
6342  |  SCP2  |  DISEASES
3745  |  KCNB1  |  DISEASES
84871  |  AGBL4  |  DISEASES
186  |  AGTR2  |  DISEASES
5728  |  PTEN  |  DISEASES
55624  |  POMGNT1  |  DISEASES
5900  |  RALGDS  |  DISEASES
7422  |  VEGFA  |  DISEASES
94233  |  OPN4  |  DISEASES
1056  |  CEL  |  DISEASES
92211  |  CDHR1  |  DISEASES
2889  |  RAPGEF1  |  DISEASES
266675  |  BEST4  |  DISEASES
4318  |  MMP9  |  DISEASES
23404  |  EXOSC2  |  DISEASES
64834  |  ELOVL1  |  DISEASES
5476  |  CTSA  |  DISEASES
1907  |  EDN2  |  DISEASES
656  |  BMP8B  |  DISEASES
26508  |  HEYL  |  DISEASES
1678  |  TIMM8A  |  DISEASES
2275  |  FHL3  |  DISEASES
64102  |  TNMD  |  DISEASES
399665  |  FAM102A  |  DISEASES
5456  |  POU3F4  |  DISEASES
2022  |  ENG  |  DISEASES
5464  |  PPA1  |  DISEASES
2740  |  GLP1R  |  DISEASES
1025  |  CDK9  |  DISEASES
6865  |  TACR2  |  DISEASES
26146  |  TRAF3IP1  |  DISEASES
3065  |  HDAC1  |  DISEASES
79140  |  CCDC28B  |  DISEASES
9355  |  LHX2  |  DISEASES
286204  |  CRB2  |  DISEASES
80312  |  TET1  |  DISEASES
220202  |  ATOH7  |  DISEASES
8473  |  OGT  |  DISEASES
222658  |  KCTD20  |  DISEASES
115273  |  RAB42  |  DISEASES
1104  |  RCC1  |  DISEASES
11130  |  ZWINT  |  DISEASES
4153  |  MBL2  |  DISEASES
22943  |  DKK1  |  DISEASES
7099  |  TLR4  |  DISEASES
474354  |  LRRC18  |  DISEASES
9128  |  PRPF4  |  DISEASES
7295  |  TXN  |  DISEASES
1896  |  EDA  |  DISEASES
6015  |  RING1  |  DISEASES
9314  |  KLF4  |  DISEASES
3339  |  HSPG2  |  DISEASES
1302  |  COL11A2  |  DISEASES
19  |  ABCA1  |  DISEASES
3108  |  HLA-DMA  |  DISEASES
7046  |  TGFBR1  |  DISEASES
1306  |  COL15A1  |  DISEASES
63943  |  FKBPL  |  DISEASES
6499  |  SKIV2L  |  DISEASES
4958  |  OMD  |  DISEASES
2159  |  F10  |  DISEASES
3055  |  HCK  |  DISEASES
158046  |  NXNL2  |  DISEASES
7917  |  BAG6  |  DISEASES
199  |  AIF1  |  DISEASES
7133  |  TNFRSF1B  |  DISEASES
778  |  CACNA1F  |  DISEASES
4007  |  PRICKLE3  |  DISEASES
7088  |  TLE1  |  DISEASES
22921  |  MSRB2  |  DISEASES
26090  |  ABHD12  |  DISEASES
4524  |  MTHFR  |  DISEASES
84131  |  CEP78  |  DISEASES
955  |  ENTPD6  |  DISEASES
648  |  BMI1  |  DISEASES
266722  |  HS6ST3  |  DISEASES
30813  |  VSX1  |  DISEASES
4943  |  TBC1D25  |  DISEASES
3105  |  HLA-A  |  DISEASES
29914  |  UBIAD1  |  DISEASES
6096  |  RORB  |  DISEASES
1471  |  CST3  |  DISEASES
2550  |  GABBR1  |  DISEASES
26504  |  CNNM4  |  DISEASES
7056  |  THBD  |  DISEASES
64802  |  NMNAT1  |  DISEASES
5457  |  POU4F1  |  DISEASES
1910  |  EDNRB  |  DISEASES
84898  |  PLXDC2  |  DISEASES
8340  |  HIST1H2BL  |  DISEASES
1203  |  CLN5  |  DISEASES
728577  |  CNTNAP3B  |  DISEASES
7347  |  UCHL3  |  DISEASES
8241  |  RBM10  |  DISEASES
6311  |  ATXN2  |  DISEASES
285641  |  SLC36A3  |  DISEASES
4609  |  MYC  |  DISEASES
23177  |  CEP68  |  DISEASES
4693  |  NDP  |  DISEASES
4129  |  MAOB  |  DISEASES
261734  |  NPHP4  |  DISEASES
10159  |  ATP6AP2  |  DISEASES
51473  |  DCDC2  |  DISEASES
6103  |  RPGR  |  DISEASES
3980  |  LIG3  |  DISEASES
8406  |  SRPX  |  DISEASES
5590  |  PRKCZ  |  DISEASES
6354  |  CCL7  |  DISEASES
6990  |  DYNLT3  |  DISEASES
1536  |  CYBB  |  DISEASES
2782  |  GNB1  |  DISEASES
7504  |  XK  |  DISEASES
2189  |  FANCG  |  DISEASES
11127  |  KIF3A  |  DISEASES
285440  |  CYP4V2  |  DISEASES
5422  |  POLA1  |  DISEASES
5080  |  PAX6  |  DISEASES
254158  |  CXorf58  |  DISEASES
55366  |  LGR4  |  DISEASES
254173  |  TTLL10  |  DISEASES
28984  |  RGCC  |  DISEASES
5251  |  PHEX  |  DISEASES
1906  |  EDN1  |  DISEASES
2308  |  FOXO1  |  DISEASES
138050  |  HGSNAT  |  DISEASES
3801  |  KIFC3  |  DISEASES
79625  |  NDNF  |  DISEASES
10631  |  POSTN  |  DISEASES
1059  |  CENPB  |  DISEASES
345193  |  LRIT3  |  DISEASES
23322  |  RPGRIP1L  |  DISEASES
6247  |  RS1  |  DISEASES
7010  |  TEK  |  DISEASES
83959  |  SLC4A11  |  DISEASES
3456  |  IFNB1  |  DISEASES
241  |  ALOX5AP  |  DISEASES
1280  |  COL2A1  |  DISEASES
54875  |  CNTLN  |  DISEASES
123016  |  TTC8  |  DISEASES
11168  |  PSIP1  |  DISEASES
3420  |  IDH3B  |  DISEASES
2296  |  FOXC1  |  DISEASES
8777  |  MPDZ  |  DISEASES
11174  |  ADAMTS6  |  DISEASES
10283  |  CWC27  |  DISEASES
3486  |  IGFBP3  |  DISEASES
23746  |  AIPL1  |  DISEASES
7054  |  TH  |  DISEASES
4267  |  CD99  |  DISEASES
57665  |  RDH14  |  DISEASES
3709  |  ITPR2  |  DISEASES
51109  |  RDH11  |  DISEASES
9738  |  CCP110  |  DISEASES
90865  |  IL33  |  DISEASES
2315  |  MLANA  |  DISEASES
9946  |  CRYZL1  |  DISEASES
3717  |  JAK2  |  DISEASES
10457  |  GPNMB  |  DISEASES
169522  |  KCNV2  |  DISEASES
7436  |  VLDLR  |  DISEASES
221178  |  SPATA13  |  DISEASES
6649  |  SOD3  |  DISEASES
387911  |  C1QTNF9B  |  DISEASES
140850  |  DEFB127  |  DISEASES
94137  |  RP1L1  |  DISEASES
4155  |  MBP  |  DISEASES
5888  |  RAD51  |  DISEASES
93589  |  CACNA2D4  |  DISEASES
1186  |  CLCN7  |  DISEASES
2706  |  GJB2  |  DISEASES
6545  |  SLC7A4  |  DISEASES
361  |  AQP4  |  DISEASES
3875  |  KRT18  |  DISEASES
7306  |  TYRP1  |  DISEASES
56953  |  NT5M  |  DISEASES
23012  |  STK38L  |  DISEASES
238  |  ALK  |  DISEASES
91050  |  CCDC149  |  DISEASES
406  |  ARNTL  |  DISEASES
8878  |  SQSTM1  |  DISEASES
29844  |  TFPT  |  DISEASES
23521  |  RPL13A  |  DISEASES
3898  |  LAD1  |  DISEASES
54499  |  TMCO1  |  DISEASES
6397  |  SEC14L1  |  DISEASES
54549  |  SDK2  |  DISEASES
12  |  SERPINA3  |  DISEASES
54903  |  MKS1  |  DISEASES
10018  |  BCL2L11  |  DISEASES
79738  |  BBS10  |  DISEASES
4287  |  ATXN3  |  DISEASES
55812  |  SPATA7  |  DISEASES
2596  |  GAP43  |  DISEASES
200894  |  ARL13B  |  DISEASES
5627  |  PROS1  |  DISEASES
6430  |  SRSF5  |  DISEASES
3426  |  CFI  |  DISEASES
285331  |  CCDC66  |  DISEASES
10936  |  GPR75  |  DISEASES
2875  |  GPT  |  DISEASES
64115  |  C10orf54  |  DISEASES
6696  |  SPP1  |  DISEASES
6046  |  BRD2  |  DISEASES
2919  |  CXCL1  |  DISEASES
174  |  AFP  |  DISEASES
6387  |  CXCL12  |  DISEASES
831  |  CAST  |  DISEASES
655  |  BMP7  |  DISEASES
4901  |  NRL  |  DISEASES
4780  |  NFE2L2  |  DISEASES
7289  |  TULP3  |  DISEASES
8786  |  RGS11  |  DISEASES
4308  |  TRPM1  |  DISEASES
5609  |  MAP2K7  |  DISEASES
594857  |  NPS  |  DISEASES
1415  |  CRYBB2  |  DISEASES
346562  |  GNAT3  |  DISEASES
4356  |  MPP3  |  DISEASES
1729  |  DIAPH1  |  DISEASES
6314  |  ATXN7  |  DISEASES
56099  |  PCDHGB7  |  DISEASES
2950  |  GSTP1  |  DISEASES
64072  |  CDH23  |  DISEASES
3119  |  HLA-DQB1  |  DISEASES
54890  |  ALKBH5  |  DISEASES
6093  |  ROCK1  |  DISEASES
57728  |  WDR19  |  DISEASES
57096  |  RPGRIP1  |  DISEASES
81035  |  COLEC12  |  DISEASES
127707  |  KLHDC7A  |  DISEASES
100287898  |  TTC34  |  DISEASES
9612  |  NCOR2  |  DISEASES
8091  |  HMGA2  |  DISEASES
2199  |  FBLN2  |  DISEASES
152579  |  SCFD2  |  DISEASES
1259  |  CNGA1  |  DISEASES
5970  |  RELA  |  DISEASES
27124  |  INPP5J  |  DISEASES
7122  |  CLDN5  |  DISEASES
9699  |  RIMS2  |  DISEASES
60489  |  APOBEC3G  |  DISEASES
84140  |  FAM161A  |  DISEASES
3033  |  HADH  |  DISEASES
3778  |  KCNMA1  |  DISEASES
7018  |  TF  |  DISEASES
2570  |  GABRR2  |  DISEASES
143496  |  OR52B4  |  DISEASES
140469  |  MYO3B  |  DISEASES
4647  |  MYO7A  |  DISEASES
6295  |  SAG  |  DISEASES
7852  |  CXCR4  |  DISEASES
100190949  |  C5orf52  |  DISEASES
501  |  ALDH7A1  |  DISEASES
3267  |  AGFG1  |  DISEASES
5861  |  RAB1A  |  DISEASES
2641  |  GCG  |  DISEASES
1385  |  CREB1  |  DISEASES
91147  |  TMEM67  |  DISEASES
388336  |  SHISA6  |  DISEASES
112724  |  RDH13  |  DISEASES
136371  |  ASB10  |  DISEASES
83552  |  MFRP  |  DISEASES
3481  |  IGF2  |  DISEASES
9343  |  EFTUD2  |  DISEASES
5537  |  PPP6C  |  DISEASES
26140  |  TTLL3  |  DISEASES
57282  |  SLC4A10  |  DISEASES
146713  |  RBFOX3  |  DISEASES
2260  |  FGFR1  |  DISEASES
11020  |  IFT27  |  DISEASES
8671  |  SLC4A4  |  DISEASES
23210  |  JMJD6  |  DISEASES
643376  |  BTBD18  |  DISEASES
5538  |  PPT1  |  DISEASES
1029  |  CDKN2A  |  DISEASES
23705  |  CADM1  |  DISEASES
8031  |  NCOA4  |  DISEASES
5076  |  PAX2  |  DISEASES
10725  |  NFAT5  |  DISEASES
112937  |  GLB1L3  |  DISEASES
5719  |  PSMD13  |  DISEASES
4908  |  NTF3  |  DISEASES
55284  |  UBE2W  |  DISEASES
55108  |  BSDC1  |  DISEASES
4696  |  NDUFA3  |  DISEASES
57545  |  CC2D2A  |  DISEASES
960  |  CD44  |  DISEASES
7124  |  TNF  |  DISEASES
3491  |  CYR61  |  DISEASES
3106  |  HLA-B  |  DISEASES
7439  |  BEST1  |  DISEASES
387  |  RHOA  |  DISEASES
7072  |  TIA1  |  DISEASES
4615  |  MYD88  |  DISEASES
401124  |  DTHD1  |  DISEASES
84627  |  ZNF469  |  DISEASES
114902  |  C1QTNF5  |  DISEASES
4049  |  LTA  |  DISEASES
388372  |  CCL4L1  |  DISEASES
22907  |  DHX30  |  DISEASES
9498  |  SLC4A8  |  DISEASES
5923  |  RASGRF1  |  DISEASES
9742  |  IFT140  |  DISEASES
9060  |  PAPSS2  |  DISEASES
22901  |  ARSG  |  DISEASES
2876  |  GPX1  |  DISEASES
5830  |  PEX5  |  DISEASES
8522  |  GAS7  |  DISEASES
5578  |  PRKCA  |  DISEASES
10540  |  DCTN2  |  DISEASES
2668  |  GDNF  |  DISEASES
9709  |  HERPUD1  |  DISEASES
834  |  CASP1  |  DISEASES
4050  |  LTB  |  DISEASES
57579  |  FAM135A  |  DISEASES
389125  |  MUSTN1  |  DISEASES
7499  |  XG  |  DISEASES
1028  |  CDKN1C  |  DISEASES
116  |  ADCYAP1  |  DISEASES
3586  |  IL10  |  DISEASES
2569  |  GABRR1  |  DISEASES
3850  |  KRT3  |  DISEASES
627  |  BDNF  |  DISEASES
284498  |  C1orf167  |  DISEASES
3831  |  KLC1  |  DISEASES
8842  |  PROM1  |  DISEASES
721  |  C4B  |  DISEASES
55652  |  SLC48A1  |  DISEASES
2801  |  GOLGA2  |  DISEASES
6513  |  SLC2A1  |  DISEASES
7045  |  TGFBI  |  DISEASES
629  |  CFB  |  DISEASES
4935  |  GPR143  |  DISEASES
3077  |  HFE  |  DISEASES
407738  |  FAM19A1  |  DISEASES
3712  |  IVD  |  DISEASES
56999  |  ADAMTS9  |  DISEASES
8801  |  SUCLG2  |  DISEASES
8754  |  ADAM9  |  DISEASES
5890  |  RAD51B  |  DISEASES
6256  |  RXRA  |  DISEASES
127933  |  UHMK1  |  DISEASES
5158  |  PDE6B  |  DISEASES
6091  |  ROBO1  |  DISEASES
7019  |  TFAM  |  DISEASES
23065  |  EMC1  |  DISEASES
150590  |  C2orf15  |  DISEASES
6949  |  TCOF1  |  DISEASES
56034  |  PDGFC  |  DISEASES
9353  |  SLIT2  |  DISEASES
134430  |  WDR36  |  DISEASES
80745  |  THUMPD2  |  DISEASES
100506742  |  CASP12  |  DISEASES
346007  |  EYS  |  DISEASES
285605  |  DTWD2  |  DISEASES
221416  |  C6orf223  |  DISEASES
284  |  ANGPT1  |  DISEASES
22999  |  RIMS1  |  DISEASES
151306  |  GPBAR1  |  DISEASES
157848  |  NKX6-3  |  DISEASES
56943  |  ENY2  |  DISEASES
552889  |  ATXN7L3B  |  DISEASES
6586  |  SLIT3  |  DISEASES
9843  |  HEPH  |  DISEASES
4914  |  NTRK1  |  DISEASES
7178  |  TPT1  |  DISEASES
57558  |  USP35  |  DISEASES
92482  |  BBIP1  |  DISEASES
8322  |  FZD4  |  DISEASES
387715  |  ARMS2  |  DISEASES
60481  |  ELOVL5  |  DISEASES
83695  |  RHNO1  |  DISEASES
23329  |  TBC1D30  |  DISEASES
5715  |  PSMD9  |  DISEASES
83742  |  MARVELD1  |  DISEASES
1232  |  CCR3  |  DISEASES
3684  |  ITGAM  |  DISEASES
5027  |  P2RX7  |  DISEASES
84975  |  MFSD5  |  DISEASES
6510  |  SLC1A5  |  DISEASES
6934  |  TCF7L2  |  DISEASES
84667  |  HES7  |  DISEASES
9971  |  NR1H4  |  DISEASES
7421  |  VDR  |  DISEASES
117177  |  RAB3IP  |  DISEASES
8972  |  MGAM  |  DISEASES
8825  |  LIN7A  |  DISEASES
1649  |  DDIT3  |  DISEASES
80184  |  CEP290  |  DISEASES
317  |  APAF1  |  DISEASES
84839  |  RAX2  |  DISEASES
5228  |  PGF  |  DISEASES
567  |  B2M  |  DISEASES
54749  |  EPDR1  |  DISEASES
91056  |  AP5B1  |  DISEASES
64220  |  STRA6  |  DISEASES
388588  |  SMIM1  |  DISEASES
51667  |  NUB1  |  DISEASES
3316  |  HSPB2  |  DISEASES
29115  |  SAP30BP  |  DISEASES
7716  |  VEZF1  |  DISEASES
2232  |  FDXR  |  DISEASES
768206  |  PRCD  |  DISEASES
8153  |  RND2  |  DISEASES
200959  |  GABRR3  |  DISEASES
728558  |  ENTPD1-AS1  |  DISEASES
100506343  |  FAM212B-AS1  |  DISEASES
283902  |  HCCAT5  |  DISEASES
101927813  |  HMMR-AS1  |  DISEASES
102723508  |  KANTR  |  DISEASES
100287569  |  LINC00173  |  DISEASES
414243  |  LINC00595  |  DISEASES
157627  |  LINC00599  |  DISEASES
100506930  |  LINC00665  |  DISEASES
100287616  |  LOXL1-AS1  |  DISEASES
151877  |  MAGI1-IT1  |  DISEASES
4566  |  MT-TK  |  DISEASES
4575  |  MT-TS2  |  DISEASES
25859  |  PART1  |  DISEASES
100302739  |  PCNA-AS1  |  DISEASES
7955  |  RNF217-AS1  |  DISEASES
283104  |  SBF2-AS1  |  DISEASES
619383  |  SCARNA9  |  DISEASES
286002  |  SLC26A4-AS1  |  DISEASES
9597  |  SMAD5-AS1  |  DISEASES
574042  |  SNORA10  |  DISEASES
400128  |  TUSC8  |  DISEASES
101929665  |  UBE2R2-AS1  |  DISEASES
Locus(Waiting for update.)
Disease ID 497
Disease retinal disease
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:26)
HP:0000572  |  Visual loss  |  12
HP:0000518  |  Cataract  |  8
HP:0000618  |  Blindness  |  4
HP:0000969  |  Dropsy  |  3
HP:0000505  |  Poor vision  |  3
HP:0000501  |  Glaucoma  |  2
HP:0030637  |  Cone dysfunction  |  2
HP:0005110  |  Atrial fibrillation  |  1
HP:0012230  |  Rhegmatogenous retinal detachment  |  1
HP:0000822  |  Hypertension  |  1
HP:0007773  |  Vitreoretinopathy  |  1
HP:0000486  |  Squint eyes  |  1
HP:0100699  |  Scarring  |  1
HP:0100014  |  Macular pucker  |  1
HP:0000541  |  Detached retina  |  1
HP:0000546  |  Retinal degeneration  |  1
HP:0030666  |  Retinal neovascularisation  |  1
HP:0003287  |  Abnormality of mitochondrial metabolism  |  1
HP:0007994  |  Loss of peripheral vision  |  1
HP:0012121  |  Panuveitis  |  1
HP:0000819  |  Diabetes mellitus  |  1
HP:0000529  |  Slowly progressive visual loss  |  1
HP:0007957  |  Corneal clouding  |  1
HP:0000488  |  Noninflammatory retina disease  |  1
HP:0007868  |  ARMD  |  1
HP:0004325  |  Low body weight  |  1
Disease ID 497
Disease retinal disease
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:3)
C0086543  |  cataract  |  6
C0456909  |  vision loss  |  4
C0456909  |  blindness  |  4
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:34)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104893768224320096010RHOumls:C0035309BeFreeThe Unfolded Protein Response (UPR) is implicated in the pathophysiology of several retinal disorders including ADRP in P23H Rho rats.0.0109871592012RHO3129528801CA
rs10489447017389517145226RDH12umls:C0035309BeFreeThe retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa.0.0034527992007RDH121467727097CT
rs10489447417389517145226RDH12umls:C0035309BeFreeThe retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa.0.0034527992007RDH121467726086GT
rs10489447517389517145226RDH12umls:C0035309BeFreeThe retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa.0.0034527992007RDH121467726983CA,G
rs1061170196461833075CFHumls:C0035309BeFreeThe Y402H variant of complement factor H is associated with age-related macular degeneration but not with diabetic retinal disease in the Go-DARTS study.0.0034527992009CFH1196690107CT
rs11196205252744556934TCF7L2umls:C0035309BeFreeA total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group consisted of 448 patients, which was further subclassified into a proliferative DR (PDR) group with 220 patients and a non-proliferative DR (NPDR) group with 228 patients; (2) the diabetes without retinopathy (DNR) group, comprised 344 patients who had no signs of DR. Single-nucleotide polymorphisms (SNPs), rs1800592 in the UCP1 gene, rs1801282, rs3856806 and rs1249719 in the PPARγ gene and rs11196205 in the TCF7L2 gene were genotyped in this study.0.0008143262014TCF7L210113047288GC
rs11196205252744555468PPARGumls:C0035309BeFreeA total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group consisted of 448 patients, which was further subclassified into a proliferative DR (PDR) group with 220 patients and a non-proliferative DR (NPDR) group with 228 patients; (2) the diabetes without retinopathy (DNR) group, comprised 344 patients who had no signs of DR. Single-nucleotide polymorphisms (SNPs), rs1800592 in the UCP1 gene, rs1801282, rs3856806 and rs1249719 in the PPARγ gene and rs11196205 in the TCF7L2 gene were genotyped in this study.0.0002714422014TCF7L210113047288GC
rs113624356229400893757KCNH2umls:C0035309BeFree(IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the characterization of important ERG response characteristics that provide insight in the pathogenesis of retinopathy in these patients.0.0013572092012BBS1;ZDHHC241166526181TG
rs11362435622940089582BBS1umls:C0035309BeFree(IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the characterization of important ERG response characteristics that provide insight in the pathogenesis of retinopathy in these patients.0.0029099162012BBS1;ZDHHC241166526181TG
rs113624356229400892078ERGumls:C0035309BeFree(IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the characterization of important ERG response characteristics that provide insight in the pathogenesis of retinopathy in these patients.0.0013572092012BBS1;ZDHHC241166526181TG
rs12143433717389517145226RDH12umls:C0035309BeFreeThe retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa.0.0034527992007RDH121467726996CT
rs121434491167990552202EFEMP1umls:C0035309BeFreeTo determine (1) clinical features that distinguish maculopathy due to the R345W substitution in fibulin-3 from other forms of inherited or early-onset drusen, (2) the phenotypic variability, and (3) the extent of retinal disease in those with a positive molecular diagnosis.0.0026384742006EFEMP1;LOC105374679255871091GA
rs12155400233935559734HDAC9umls:C0035309BeFreeSNP, rs12155400, in the histone deacetylase 9 gene (HDAC9) on chromosome 7, was associated with retinopathy in analysis of participants without hypertension, -1.3±0.23 (beta ± standard error), p = 6.6×10(-9).0.0002714422013HDAC9718389298AG
rs1249719252744556934TCF7L2umls:C0035309BeFreeA total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group consisted of 448 patients, which was further subclassified into a proliferative DR (PDR) group with 220 patients and a non-proliferative DR (NPDR) group with 228 patients; (2) the diabetes without retinopathy (DNR) group, comprised 344 patients who had no signs of DR. Single-nucleotide polymorphisms (SNPs), rs1800592 in the UCP1 gene, rs1801282, rs3856806 and rs1249719 in the PPARγ gene and rs11196205 in the TCF7L2 gene were genotyped in this study.0.0008143262014COL27A19114235944GA
rs1249719252744555468PPARGumls:C0035309BeFreeA total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group consisted of 448 patients, which was further subclassified into a proliferative DR (PDR) group with 220 patients and a non-proliferative DR (NPDR) group with 228 patients; (2) the diabetes without retinopathy (DNR) group, comprised 344 patients who had no signs of DR. Single-nucleotide polymorphisms (SNPs), rs1800592 in the UCP1 gene, rs1801282, rs3856806 and rs1249719 in the PPARγ gene and rs11196205 in the TCF7L2 gene were genotyped in this study.0.0002714422014COL27A19114235944GA
rs137853006203931168842PROM1umls:C0035309BeFreeThe results of this study have demonstrated that a distinct redundant PROM1 mutation (R373C) can also produce an autosomal dominant, fully penetrant retinopathy, characterized by BEM with little inter- and intrafamilial variability, and retinal dystrophy with variable rod or rod-cone dysfunction and marked intra- and interfamilial variability, ranging from isolated maculopathy without generalized photoreceptor dysfunction to maculopathy associated with very severe rod-cone dysfunction.0.0002714422010PROM1416013299GA
rs1800592252744555468PPARGumls:C0035309BeFreeA total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group consisted of 448 patients, which was further subclassified into a proliferative DR (PDR) group with 220 patients and a non-proliferative DR (NPDR) group with 228 patients; (2) the diabetes without retinopathy (DNR) group, comprised 344 patients who had no signs of DR. Single-nucleotide polymorphisms (SNPs), rs1800592 in the UCP1 gene, rs1801282, rs3856806 and rs1249719 in the PPARγ gene and rs11196205 in the TCF7L2 gene were genotyped in this study.0.0002714422014NA4140572807TC
rs1800592252744556934TCF7L2umls:C0035309BeFreeA total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group consisted of 448 patients, which was further subclassified into a proliferative DR (PDR) group with 220 patients and a non-proliferative DR (NPDR) group with 228 patients; (2) the diabetes without retinopathy (DNR) group, comprised 344 patients who had no signs of DR. Single-nucleotide polymorphisms (SNPs), rs1800592 in the UCP1 gene, rs1801282, rs3856806 and rs1249719 in the PPARγ gene and rs11196205 in the TCF7L2 gene were genotyped in this study.0.0008143262014NA4140572807TC
rs1800592252744557350UCP1umls:C0035309BeFreeFor SNP rs1800592 of the UCP1 gene, the frequency of allele G and genotype GG was significantly higher in the PDR group than in the DNR group (allele OR: 1.32, 95% CI: 1.03-1.68, p = 0.03; genotype OR: 1.72, 95%CI: 1.06-2.79, p = 0.03).0.0002714422014NA4140572807TC
rs1801282252744555468PPARGumls:C0035309BeFreeA total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group consisted of 448 patients, which was further subclassified into a proliferative DR (PDR) group with 220 patients and a non-proliferative DR (NPDR) group with 228 patients; (2) the diabetes without retinopathy (DNR) group, comprised 344 patients who had no signs of DR. Single-nucleotide polymorphisms (SNPs), rs1800592 in the UCP1 gene, rs1801282, rs3856806 and rs1249719 in the PPARγ gene and rs11196205 in the TCF7L2 gene were genotyped in this study.0.0002714422014PPARG312351626CG
rs1801282252744556934TCF7L2umls:C0035309BeFreeA total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group consisted of 448 patients, which was further subclassified into a proliferative DR (PDR) group with 220 patients and a non-proliferative DR (NPDR) group with 228 patients; (2) the diabetes without retinopathy (DNR) group, comprised 344 patients who had no signs of DR. Single-nucleotide polymorphisms (SNPs), rs1800592 in the UCP1 gene, rs1801282, rs3856806 and rs1249719 in the PPARγ gene and rs11196205 in the TCF7L2 gene were genotyped in this study.0.0008143262014PPARG312351626CG
rs2010963245342177422VEGFAumls:C0035309BeFreeHowever, our study indicated that DR patients have higher VEGF levels than diabetic patients without retinopathy, and -2578A/C (rs699947) and +405C/G (rs2010963) may be important factors in determining serum VEGF levels.0.1348533582015VEGFA643770613CG
rs2010963205915247422VEGFAumls:C0035309BeFreeAssociation between the -634C/G polymorphisms of the vascular endothelial growth factor and retinopathy in type 2 diabetes: a meta-analysis.0.1348533582010VEGFA643770613CG
rs2014716071798242024ABCA4umls:C0035309BeFreeN965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population.0.0136916462007ABCA4194046943TC
rs207060022427038177AGERumls:C0035309BeFreeLack of association between Gly82Ser, 1704G/T and 2184A/G of RAGE gene polymorphisms and retinopathy susceptibility in Malaysian diabetic patients.0.0013572092012AGER632183666CT
rs28933990225514096017RLBP1umls:C0035309BeFreeThe two RLBP1 genotypes presented a phenotypical and electrophysiological expression of progressive retinal disease similar to that previously described in homozygotes for the c.700C>T (p.R234W) RLBP1 mutation.0.0031813582013RLBP11589210794GA
rs2894031317389517145226RDH12umls:C0035309BeFreeThe retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa.0.0034527992007ZFYVE26;RDH121467729209AG
rs3856806252744555468PPARGumls:C0035309BeFreeA total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group consisted of 448 patients, which was further subclassified into a proliferative DR (PDR) group with 220 patients and a non-proliferative DR (NPDR) group with 228 patients; (2) the diabetes without retinopathy (DNR) group, comprised 344 patients who had no signs of DR. Single-nucleotide polymorphisms (SNPs), rs1800592 in the UCP1 gene, rs1801282, rs3856806 and rs1249719 in the PPARγ gene and rs11196205 in the TCF7L2 gene were genotyped in this study.0.0002714422014PPARG312434058CT
rs3856806252744556934TCF7L2umls:C0035309BeFreeA total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group consisted of 448 patients, which was further subclassified into a proliferative DR (PDR) group with 220 patients and a non-proliferative DR (NPDR) group with 228 patients; (2) the diabetes without retinopathy (DNR) group, comprised 344 patients who had no signs of DR. Single-nucleotide polymorphisms (SNPs), rs1800592 in the UCP1 gene, rs1801282, rs3856806 and rs1249719 in the PPARγ gene and rs11196205 in the TCF7L2 gene were genotyped in this study.0.0008143262014PPARG312434058CT
rs386539811109263224852NPYumls:C0035309BeFreeLeucine 7 to proline 7 polymorphism in the neuropeptide y gene is associated with retinopathy in type 2 diabetes.0.0005428842000NANANANANA
rs38655629322427038177AGERumls:C0035309BeFreeLack of association between Gly82Ser, 1704G/T and 2184A/G of RAGE gene polymorphisms and retinopathy susceptibility in Malaysian diabetic patients.0.0013572092012NANANANANA
rs6195190059872908NR3C1umls:C0035309BeFreeFifty-two patients (56 eyes) who underwent treatment with IVTA for various retinal diseases were genotyped for six well-studied glucocorticoid receptor polymorphisms (ER22/23EK, N363S, BclI, N766N, and single nucleotide polymorphisms (SNPs) within introns 3 and 4).0.0026384742008NANANANANA
rs6263863498551626103RPGRumls:C0035309BeFreeA mutation in exon 3 of the RPGR gene, which would result in a putative glycine to valine substitution at codon 60, is associated with a severe clinical phenotype in male patients and a patchy retinopathy without a tapetal-like reflex in carrier females.0.0050814511998RPGRX38322921CA
rs699947245342177422VEGFAumls:C0035309BeFreeHowever, our study indicated that DR patients have higher VEGF levels than diabetic patients without retinopathy, and -2578A/C (rs699947) and +405C/G (rs2010963) may be important factors in determining serum VEGF levels.0.1348533582015VEGFA643768652AC
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:67)
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
115216489rs12029721AGrs12029721233935557.91E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
158693743rs17117148GCrs17117148233935551.05E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
189079544rs17130538CTrs17130538233935551.79E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1211690818rs2166104ATrs2166104233935557.13E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1211691706rs7553035GTrs7553035233935554.00E-06NA0.37[0.21-0.53] unit increase19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseasers7553035-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
2127941798rs4662573TCrs4662573233935551.60E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
2241182744rs4854078CArs4854078233935555.15E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
3193669436rs6771223GArs6771223233935556.40E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
458035857rs7696751CGrs7696751233935555.29E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
458058785rs10488927GTrs10488927233935558.62E-07NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
4138128799rs10001004GArs10001004233935556.88E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
4138130022rs7692267TGrs7692267233935557.33E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
4138135531rs7666605AGrs7666605233935557.39E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
4138154812rs10004839CTrs10004839233935555.00E-06NA0.57[0.32-0.82] unit increase19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseasers10004839-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
4168635180rs7656265CTrs7656265233935557.48E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
4183361936rs10027571CTrs10027571233935551.60E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
629351784rs9378134GA,C,Trs9378134233935553.00E-06NA0.49[0.29-0.69] unit increase19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseasers9378134-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
631244214rs9264733CGrs9264733233935554.21E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
631244331rs9264740CTrs9264740233935554.21E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
631244960rs6919908TCrs6919908233935555.67E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
631245736rs6906846AGrs6906846233935556.23E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
6143484787rs3761997CTrs3761997233935552.48E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
6143487277rs2154404TGrs2154404233935552.31E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
6143488835rs4896622AGrs4896622233935552.29E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
6145185269rs1933752TCrs1933752233935555.00E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
718218581rs12536864AGrs12536864233935557.91E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
718428921rs12155400AGrs12155400233935558.00E-06NA0.73[0.42-1.04] unit decrease19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseasers12155400-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
831000860rs7001440GArs7001440233935552.11E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
831010288rs6988789CTrs6988789233935551.56E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
865605719rs7827287GTrs7827287233935554.97E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
865605878rs10957321GArs10957321233935555.12E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
865608361rs7830315TCrs7830315233935555.32E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
865611761rs10112206ACrs10112206233935554.90E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
865612697rs6472147ATrs6472147233935555.32E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
865730207rs6472155GArs6472155233935554.00E-06NA0.23[0.13-0.33] unit decrease19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseasers6472155-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
8130676639rs9918807TCrs9918807233935555.00E-06NA0.47[0.27-0.67] unit decrease19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseasers9918807-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1083188768rs1329202TCrs1329202233935559.12E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1083188953rs1329201CTrs1329201233935558.00E-06NA0.22[0.12-0.32] unit decrease19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseasers1329201-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1083191741rs12260387ATrs12260387233935558.56E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
10121139045rs1248077GArs1248077233935553.97E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
10121140511rs4751714AGrs4751714233935559.16E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
10121140534rs2275037CGrs2275037233935559.82E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
10121140671rs3818779AGrs3818779233935559.89E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
10121146899rs11813472GArs11813472233935558.54E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1112994339rs12295437TCrs12295437233935559.20E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1112995412rs11022581GTrs11022581233935556.80E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1113014088rs7102071ACrs7102071233935557.97E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1178659145rs11826937ATrs11826937233935553.00E-06NA0.6[0.35-0.85] unit decrease19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseasers11826937-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
11100670925rs10895016GArs10895016233935552.38E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
11100694310rs11605920TCrs11605920233935559.23E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
11100696117rs10895018ACrs10895018233935559.09E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1210414360rs7957898AGrs7957898233935553.31E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1214147348rs7304327GArs7304327233935555.98E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1228008769rs258401TGrs258401233935556.00E-06NA0.24[0.14-0.34] unit increase19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseasers258401-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
12115963873rs12580480ATrs12580480233935553.71E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
12129595289rs7310361CG,Trs7310361233935551.46E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1428044827rs2022878ACrs2022878233935557.53E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1454439404rs6572930TGrs6572930233935556.20E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1454440983rs942316ACrs942316233935553.92E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1454442668rs4316669CTrs4316669233935552.67E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1581158072rs4353448GArs4353448233935556.32E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1581160262rs4145805GArs4145805233935558.11E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1598681332rs10902540CTrs10902540233935552.03E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1846285145rs4939560AGrs4939560233935553.16E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
1877325446rs7233024CArs7233024233935554.09E-06NANANA19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
2036068389rs17194885ACrs17194885233935554.00E-06NA0.61[0.36-0.86] unit decrease19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseasers17194885-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
2220797289rs5763911TCrs5763911233935556.00E-06NA0.52[0.3-0.74] unit decrease19,411 European ancestry individualsEuropean(19411)ALL(19411)EUR(19411)ALL(19411)Retinopathy in non-diabeticsHPOID:0000488RetinopathyDOID:5679retinal diseaseD012164Retinal DiseasesNANARetinal diseasers5763911-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:19)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0035309amikacinD00058337517-28-5retinal diseasesMESH:D012164marker/mechanism9199746
C0035309carbamazepineD002220298-46-4retinal diseasesMESH:D012164marker/mechanism3751517
C0035309carmustineD002330154-93-8retinal diseasesMESH:D012164marker/mechanism3340295
C0035309chloroquineD0027381954/5/7retinal diseasesMESH:D012164marker/mechanism10172409
C0035309chlorpromazineD00274650-53-3retinal diseasesMESH:D012164marker/mechanism16117689
C0035309cyclophosphamideD00352050-18-0retinal diseasesMESH:D012164marker/mechanism1794789
C0035309cisplatinD00294515663-27-1retinal diseasesMESH:D012164marker/mechanism3340295
C0035309ethambutolD00497774-55-5retinal diseasesMESH:D012164marker/mechanism15923521
C0035309ganciclovirD01577482410-32-0retinal diseasesMESH:D012164marker/mechanism7973120
C0035309methadoneD00869176-99-3retinal diseasesMESH:D012164marker/mechanism4367894
C0035309nicotineD009538-retinal diseasesMESH:D012164marker/mechanism20448088
C0035309norepinephrineD00963851-41-2retinal diseasesMESH:D012164therapeutic6213676
C0035309peginterferon alfa-2aC100416-retinal diseasesMESH:D012164marker/mechanism15771758
C0035309quinineD011803130-95-0retinal diseasesMESH:D012164marker/mechanism8543087
C0035309ribavirinD01225436791-04-5retinal diseasesMESH:D012164marker/mechanism12578794
C0035309riluzoleD0197821744-22-5retinal diseasesMESH:D012164therapeutic10067977
C0035309tacrolimusD016559109581-93-3retinal diseasesMESH:D012164therapeutic9660400
C0035309topiramateC05234297240-79-4retinal diseasesMESH:D012164marker/mechanism16804780
C0035309vigabatrinD02088860643-86-9retinal diseasesMESH:D012164marker/mechanism10599785
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)