Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Blindness RPE65 phenotype C0456909 GeneticVariation 0.5 disgenet
Blindness RPE65 phenotype C0456909 Therapeutic 0.5 disgenet
Blindness RPE65 phenotype C0456909 Biomarker 0.5 disgenet
Blindness LCA5 phenotype C0456909 GeneticVariation 0.32 disgenet
Blindness LCA5 phenotype C0456909 Biomarker 0.32 disgenet
Blindness ATIC phenotype C0456909 Biomarker 0.3 disgenet
Blindness AIPL1 phenotype C0456909 Biomarker 0.2 disgenet
Blindness AIPL1 phenotype C0456909 GeneticVariation 0.2 disgenet
Blindness GUCY2D phenotype C0456909 GeneticVariation 0.2 disgenet
Blindness GUCY2D phenotype C0456909 Biomarker 0.2 disgenet
Blindness CEP290 phenotype C0456909 Biomarker 0.19 disgenet
Blindness CEP290 phenotype C0456909 GeneticVariation 0.19 disgenet
Blindness CEP290 phenotype C0456909 CausalMutation 0.19 disgenet
Blindness RPGR phenotype C0456909 GeneticVariation 0.18 disgenet
Blindness CLN3 phenotype C0456909 AlteredExpression 0.18 disgenet
Blindness RPGR phenotype C0456909 Biomarker 0.18 disgenet
Blindness CLN3 phenotype C0456909 GeneticVariation 0.18 disgenet
Blindness CLN3 phenotype C0456909 Biomarker 0.18 disgenet
Blindness RHO phenotype C0456909 GeneticVariation 0.17 disgenet
Blindness RHO phenotype C0456909 Biomarker 0.17 disgenet
Blindness RHO phenotype C0456909 CausalMutation 0.17 disgenet
Blindness OAT phenotype C0456909 Biomarker 0.16 disgenet
Blindness OAT phenotype C0456909 GeneticVariation 0.16 disgenet
Blindness ABCA4 phenotype C0456909 Biomarker 0.15 disgenet
Blindness ABCA4 phenotype C0456909 CausalMutation 0.15 disgenet
Blindness ABCA4 phenotype C0456909 GeneticVariation 0.15 disgenet
Blindness CRB1 phenotype C0456909 Biomarker 0.14 disgenet
Blindness CRB1 phenotype C0456909 GeneticVariation 0.14 disgenet
Blindness NLRP3 phenotype C0456909 AlteredExpression 0.13 disgenet
Blindness NLRP3 phenotype C0456909 GeneticVariation 0.13 disgenet
Blindness NLRP3 phenotype C0456909 Biomarker 0.13 disgenet
Blindness PRCD phenotype C0456909 Biomarker 0.13 disgenet
Blindness PRCD phenotype C0456909 GeneticVariation 0.13 disgenet
Blindness CRX phenotype C0456909 Biomarker 0.13 disgenet
Blindness CRX phenotype C0456909 GeneticVariation 0.13 disgenet
Blindness LRAT phenotype C0456909 GeneticVariation 0.12 disgenet
Blindness GUCA1B phenotype C0456909 Biomarker 0.12 disgenet
Blindness RDH12 phenotype C0456909 GeneticVariation 0.12 disgenet
Blindness PRPF31 phenotype C0456909 Biomarker 0.12 disgenet
Blindness ALMS1 phenotype C0456909 Biomarker 0.12 disgenet
Blindness PRPF31 phenotype C0456909 GeneticVariation 0.12 disgenet
Blindness LRP5 phenotype C0456909 GeneticVariation 0.12 disgenet
Blindness RDH12 phenotype C0456909 Biomarker 0.12 disgenet
Blindness TIMP3 phenotype C0456909 AlteredExpression 0.12 disgenet
Blindness SCN1A phenotype C0456909 Biomarker 0.12 disgenet
Blindness NDUFS4 phenotype C0456909 Biomarker 0.12 disgenet
Blindness TIMP3 phenotype C0456909 GeneticVariation 0.12 disgenet
Blindness SCN1A phenotype C0456909 GeneticVariation 0.12 disgenet
Blindness ALMS1 phenotype C0456909 GeneticVariation 0.12 disgenet
Blindness LRAT phenotype C0456909 Biomarker 0.12 disgenet
Blindness GUCA1B phenotype C0456909 GeneticVariation 0.12 disgenet
Blindness TIMP3 phenotype C0456909 Biomarker 0.12 disgenet
Blindness ALMS1 phenotype C0456909 CausalMutation 0.12 disgenet
Blindness LRP5 phenotype C0456909 Biomarker 0.12 disgenet
Blindness FAM161A phenotype C0456909 GeneticVariation 0.11 disgenet
Blindness USH2A phenotype C0456909 CausalMutation 0.11 disgenet
Blindness ATXN7 phenotype C0456909 Biomarker 0.11 disgenet
Blindness MFSD8 phenotype C0456909 GeneticVariation 0.11 disgenet
Blindness PRPH2 phenotype C0456909 GeneticVariation 0.11 disgenet
Blindness SEMA4A phenotype C0456909 GeneticVariation 0.11 disgenet
Blindness AHR phenotype C0456909 Biomarker 0.11 disgenet
Blindness SEMA4A phenotype C0456909 Biomarker 0.11 disgenet
Blindness MFSD8 phenotype C0456909 Biomarker 0.11 disgenet
Blindness COL2A1 phenotype C0456909 CausalMutation 0.11 disgenet
Blindness FAM161A phenotype C0456909 Biomarker 0.11 disgenet
Blindness NDP phenotype C0456909 Biomarker 0.11 disgenet
Blindness ATXN7 phenotype C0456909 GeneticVariation 0.11 disgenet
Blindness PRPH2 phenotype C0456909 Biomarker 0.11 disgenet
Blindness TULP1 phenotype C0456909 Biomarker 0.11 disgenet
Blindness PRPF8 phenotype C0456909 GeneticVariation 0.11 disgenet
Blindness AHI1 phenotype C0456909 Biomarker 0.11 disgenet
Blindness NDP phenotype C0456909 GeneticVariation 0.11 disgenet
Blindness TULP1 phenotype C0456909 GeneticVariation 0.11 disgenet
Blindness SNRNP200 phenotype C0456909 Biomarker 0.11 disgenet
Blindness IL10 phenotype C0456909 Biomarker 0.11 disgenet
Blindness USH2A phenotype C0456909 GeneticVariation 0.11 disgenet
Blindness COL2A1 phenotype C0456909 Biomarker 0.11 disgenet
Blindness AHI1 phenotype C0456909 GeneticVariation 0.11 disgenet
Blindness NR2E3 phenotype C0456909 GeneticVariation 0.11 disgenet
Blindness USH2A phenotype C0456909 Biomarker 0.11 disgenet
Blindness NR2E3 phenotype C0456909 Biomarker 0.11 disgenet
Blindness CLRN1 phenotype C0456909 Biomarker 0.11 disgenet
Blindness CDHR1 phenotype C0456909 GeneticVariation 0.11 disgenet
Blindness PRPF8 phenotype C0456909 Biomarker 0.11 disgenet
Blindness COL2A1 phenotype C0456909 GeneticVariation 0.11 disgenet
Blindness CDHR1 phenotype C0456909 Biomarker 0.11 disgenet
Blindness IFT172 phenotype C0456909 Biomarker 0.11 disgenet
Blindness CAPN5 phenotype C0456909 Biomarker 0.11 disgenet
Blindness IMPDH1 phenotype C0456909 GeneticVariation 0.11 disgenet
Blindness IMPDH1 phenotype C0456909 Biomarker 0.11 disgenet
Blindness PROM1 phenotype C0456909 Biomarker 0.11 disgenet
Blindness ND6 phenotype C0456909 GeneticVariation 0.11 disgenet
Blindness KIZ phenotype C0456909 Biomarker 0.11 disgenet
Blindness KIZ phenotype C0456909 GeneticVariation 0.11 disgenet
Blindness IL12A phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFA1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness PPT1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFS2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness VEGFA phenotype C0456909 Biomarker 0.1 disgenet
Blindness OFD1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness PGK1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness KLHL7 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFAF5 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ARL2BP phenotype C0456909 Biomarker 0.1 disgenet
Blindness CFH phenotype C0456909 Biomarker 0.1 disgenet
Blindness TMEM126B phenotype C0456909 Biomarker 0.1 disgenet
Blindness CFH phenotype C0456909 GeneticVariation 0.1 disgenet
Blindness PRSS23 phenotype C0456909 CausalMutation 0.1 disgenet
Blindness SLC52A2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ERAP1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness OPA3 phenotype C0456909 Biomarker 0.1 disgenet
Blindness VEGFA phenotype C0456909 GeneticVariation 0.1 disgenet
Blindness PROS1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFV1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFS7 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFB9 phenotype C0456909 Biomarker 0.1 disgenet
Blindness PLG phenotype C0456909 Biomarker 0.1 disgenet
Blindness ADAMTS10 phenotype C0456909 Biomarker 0.1 disgenet
Blindness SAG phenotype C0456909 Biomarker 0.1 disgenet
Blindness POGZ phenotype C0456909 Biomarker 0.1 disgenet
Blindness SDHD phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFA6 phenotype C0456909 Biomarker 0.1 disgenet
Blindness RBP3 phenotype C0456909 Biomarker 0.1 disgenet
Blindness BEST1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFAF3 phenotype C0456909 Biomarker 0.1 disgenet
Blindness SMARCB1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness MEFV phenotype C0456909 Biomarker 0.1 disgenet
Blindness SPATA7 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ITGA2B phenotype C0456909 Biomarker 0.1 disgenet
Blindness CNGA3 phenotype C0456909 Biomarker 0.1 disgenet
Blindness TNFSF11 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ND1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness GP1BA phenotype C0456909 Biomarker 0.1 disgenet
Blindness TLR4 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NF2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness PDE6A phenotype C0456909 Biomarker 0.1 disgenet
Blindness PQBP1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness AIP phenotype C0456909 Biomarker 0.1 disgenet
Blindness GNAQ phenotype C0456909 Biomarker 0.1 disgenet
Blindness B4GAT1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness CCR1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness PIK3R2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness HCCS phenotype C0456909 Biomarker 0.1 disgenet
Blindness EFEMP1 phenotype C0456909 GeneticVariation 0.1 disgenet
Blindness RP1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness GALC phenotype C0456909 Biomarker 0.1 disgenet
Blindness PEX6 phenotype C0456909 GeneticVariation 0.1 orphanet , disgenet
Blindness FOXRED1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness HEXB phenotype C0456909 Biomarker 0.1 disgenet
Blindness TMEM231 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ZNF423 phenotype C0456909 Biomarker 0.1 disgenet
Blindness HGSNAT phenotype C0456909 Biomarker 0.1 disgenet
Blindness C4A phenotype C0456909 Biomarker 0.1 disgenet
Blindness GNAS phenotype C0456909 Biomarker 0.1 disgenet
Blindness FKTN phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFS1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ARL6 phenotype C0456909 Biomarker 0.1 disgenet
Blindness POMK phenotype C0456909 Biomarker 0.1 disgenet
Blindness TTC8 phenotype C0456909 Biomarker 0.1 disgenet
Blindness CNGA1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness BCOR phenotype C0456909 Biomarker 0.1 disgenet
Blindness CTC1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness IL12A-AS1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFS3 phenotype C0456909 Biomarker 0.1 disgenet
Blindness FBN1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness PDGFB phenotype C0456909 Biomarker 0.1 disgenet
Blindness REEP6 phenotype C0456909 Biomarker 0.1 disgenet
Blindness KIF11 phenotype C0456909 Biomarker 0.1 disgenet
Blindness TMEM216 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ARL3 phenotype C0456909 Biomarker 0.1 disgenet
Blindness HLA-DRB1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFS8 phenotype C0456909 Biomarker 0.1 disgenet
Blindness POMGNT1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness SUFU phenotype C0456909 Biomarker 0.1 disgenet
Blindness POMT1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ZNF513 phenotype C0456909 Biomarker 0.1 disgenet
Blindness PHIP phenotype C0456909 CausalMutation 0.1 disgenet
Blindness POMT2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness FLVCR1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness IFT140 phenotype C0456909 Biomarker 0.1 disgenet
Blindness SLC24A1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness GM2A phenotype C0456909 Biomarker 0.1 disgenet
Blindness CC2D2A phenotype C0456909 Biomarker 0.1 disgenet
Blindness TBC1D24 phenotype C0456909 Biomarker 0.1 disgenet
Blindness SDHA phenotype C0456909 Biomarker 0.1 disgenet
Blindness FRAS1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness GJB2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness CA4 phenotype C0456909 Biomarker 0.1 disgenet
Blindness DHX38 phenotype C0456909 Biomarker 0.1 disgenet
Blindness PCARE phenotype C0456909 Biomarker 0.1 disgenet
Blindness RP9 phenotype C0456909 Biomarker 0.1 disgenet
Blindness PRPF4 phenotype C0456909 Biomarker 0.1 disgenet
Blindness IRAK1BP1 phenotype C0456909 CausalMutation 0.1 disgenet
Blindness NUBPL phenotype C0456909 Biomarker 0.1 disgenet
Blindness FSCN2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness DHDDS phenotype C0456909 Biomarker 0.1 disgenet
Blindness NRL phenotype C0456909 Biomarker 0.1 disgenet
Blindness TCIRG1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFAF2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness TOPORS phenotype C0456909 Biomarker 0.1 disgenet
Blindness B3GALNT2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ITGA2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDE1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness MEN1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness TMEM67 phenotype C0456909 Biomarker 0.1 disgenet
Blindness PMPCA phenotype C0456909 CausalMutation 0.1 disgenet
Blindness UBAC2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness KLRC4 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ITGB3 phenotype C0456909 Biomarker 0.1 disgenet
Blindness FZD4 phenotype C0456909 CausalMutation 0.1 disgenet
Blindness EYS phenotype C0456909 Biomarker 0.1 disgenet
Blindness PEX6 phenotype C0456909 Biomarker 0.1 orphanet , disgenet
Blindness SMCHD1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness HLA-B phenotype C0456909 Biomarker 0.1 disgenet
Blindness TUB phenotype C0456909 Biomarker 0.1 disgenet
Blindness RGR phenotype C0456909 Biomarker 0.1 disgenet
Blindness IL23R phenotype C0456909 Biomarker 0.1 disgenet
Blindness CNGB1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ROM1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ATRX phenotype C0456909 Biomarker 0.1 disgenet
Blindness TMEM237 phenotype C0456909 Biomarker 0.1 disgenet
Blindness FREM2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness LAMB2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness PITX3 phenotype C0456909 Biomarker 0.1 disgenet
Blindness IDH3B phenotype C0456909 Biomarker 0.1 disgenet
Blindness GMPPB phenotype C0456909 Biomarker 0.1 disgenet
Blindness BMP4 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ZNF408 phenotype C0456909 Biomarker 0.1 disgenet
Blindness PANK2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness FZD4 phenotype C0456909 Biomarker 0.1 disgenet
Blindness IMPG2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness SCAPER phenotype C0456909 Biomarker 0.1 disgenet
Blindness TMEM138 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NAA10 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ASPA phenotype C0456909 Biomarker 0.1 disgenet
Blindness ATP1A3 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFB11 phenotype C0456909 Biomarker 0.1 disgenet
Blindness KIAA1549 phenotype C0456909 Biomarker 0.1 disgenet
Blindness CLCN7 phenotype C0456909 Biomarker 0.1 disgenet
Blindness SDHB phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFAF1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness GRIP1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness GNAT1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness BBS2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness RP2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness C1QTNF5 phenotype C0456909 Biomarker 0.1 disgenet
Blindness POLG phenotype C0456909 Biomarker 0.1 disgenet
Blindness CERKL phenotype C0456909 Biomarker 0.1 disgenet
Blindness ABCD1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness CDH23 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFV2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFB3 phenotype C0456909 Biomarker 0.1 disgenet
Blindness RLBP1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFAF4 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ARHGEF18 phenotype C0456909 Biomarker 0.1 disgenet
Blindness PDE6G phenotype C0456909 Biomarker 0.1 disgenet
Blindness KIF14 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFB10 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ARV1 phenotype C0456909 GeneticVariation 0.1 disgenet
Blindness CDH3 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ND2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFA11 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ATP6 phenotype C0456909 Biomarker 0.1 disgenet
Blindness WHRN phenotype C0456909 Biomarker 0.1 disgenet
Blindness PDE6B phenotype C0456909 Biomarker 0.1 disgenet
Blindness PRPF3 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ACTB phenotype C0456909 Biomarker 0.1 disgenet
Blindness SLC7A14 phenotype C0456909 Biomarker 0.1 disgenet
Blindness GP1BB phenotype C0456909 Biomarker 0.1 disgenet
Blindness PLOD1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness TIMMDC1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness CD109 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ND3 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NLRC4 phenotype C0456909 Biomarker 0.1 disgenet
Blindness ARNT2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness FAS phenotype C0456909 Biomarker 0.1 disgenet
Blindness BTNL2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness HEXA phenotype C0456909 Biomarker 0.1 disgenet
Blindness C8orf37 phenotype C0456909 Biomarker 0.1 disgenet
Blindness SDHAF1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness STAT4 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NEK2 phenotype C0456909 Biomarker 0.1 disgenet
Blindness IFT88 phenotype C0456909 Biomarker 0.1 disgenet
Blindness MERTK phenotype C0456909 Biomarker 0.1 disgenet
Blindness AGBL5 phenotype C0456909 Biomarker 0.1 disgenet
Blindness NDUFS6 phenotype C0456909 Biomarker 0.1 disgenet
Blindness MAK phenotype C0456909 Biomarker 0.1 disgenet
Blindness IDH3A phenotype C0456909 Biomarker 0.1 disgenet
Blindness FKRP phenotype C0456909 Biomarker 0.1 disgenet
Blindness LARGE1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness COX7B phenotype C0456909 Biomarker 0.1 disgenet
Blindness PRPF6 phenotype C0456909 Biomarker 0.1 disgenet
Blindness HPS1 phenotype C0456909 Biomarker 0.1 disgenet
Blindness AMD1 phenotype C0456909 Biomarker 0.07 disgenet
Blindness AMD1P2 phenotype C0456909 Biomarker 0.07 disgenet
Blindness AMD1P2 phenotype C0456909 GeneticVariation 0.07 disgenet
Blindness AMD1 phenotype C0456909 GeneticVariation 0.07 disgenet
Blindness MYO7A phenotype C0456909 GeneticVariation 0.06 disgenet
Blindness MYO7A phenotype C0456909 Biomarker 0.06 disgenet
Blindness MYP2 phenotype C0456909 GeneticVariation 0.04 disgenet
Blindness ELOVL4 phenotype C0456909 Biomarker 0.04 disgenet
Blindness MYOC phenotype C0456909 GeneticVariation 0.04 disgenet
Blindness ELOVL4 phenotype C0456909 GeneticVariation 0.04 disgenet
Blindness CHM phenotype C0456909 GeneticVariation 0.04 disgenet
Blindness CHM phenotype C0456909 Biomarker 0.04 disgenet
Blindness MYP2 phenotype C0456909 Biomarker 0.04 disgenet
Blindness MYOC phenotype C0456909 AlteredExpression 0.04 disgenet
Blindness IQCB1 phenotype C0456909 GeneticVariation 0.03 disgenet
Blindness NXNL1 phenotype C0456909 GeneticVariation 0.03 disgenet
Blindness ARMS2 phenotype C0456909 GeneticVariation 0.03 disgenet
Blindness NXNL1 phenotype C0456909 Biomarker 0.03 disgenet
Blindness PTPRC phenotype C0456909 GeneticVariation 0.03 disgenet
Blindness PTPRC phenotype C0456909 Biomarker 0.03 disgenet
Blindness GCA phenotype C0456909 Biomarker 0.03 disgenet
Blindness IQCB1 phenotype C0456909 Biomarker 0.03 disgenet
Blindness RS1 phenotype C0456909 GeneticVariation 0.03 disgenet
Blindness NXNL1 phenotype C0456909 AlteredExpression 0.03 disgenet
Blindness SLC4A11 phenotype C0456909 GeneticVariation 0.03 disgenet
Blindness SLC4A11 phenotype C0456909 AlteredExpression 0.03 disgenet
Blindness CLTA phenotype C0456909 Biomarker 0.03 disgenet
Blindness CLTA phenotype C0456909 GeneticVariation 0.03 disgenet
Blindness NUB1 phenotype C0456909 Biomarker 0.02 disgenet
Blindness REN phenotype C0456909 Biomarker 0.02 disgenet
Blindness TP63 phenotype C0456909 GeneticVariation 0.02 disgenet
Blindness OPA1 phenotype C0456909 AlteredExpression 0.02 disgenet
Blindness IL6 phenotype C0456909 Biomarker 0.02 disgenet
Blindness REN phenotype C0456909 GeneticVariation 0.02 disgenet
Blindness TBK1 phenotype C0456909 GeneticVariation 0.02 disgenet
Blindness TYR phenotype C0456909 GeneticVariation 0.02 disgenet
Blindness CLU phenotype C0456909 Biomarker 0.02 disgenet
Blindness GFAP phenotype C0456909 GeneticVariation 0.02 disgenet
Blindness RPE phenotype C0456909 Biomarker 0.02 disgenet
Blindness GFAP phenotype C0456909 Biomarker 0.02 disgenet
Blindness OPA1 phenotype C0456909 GeneticVariation 0.02 disgenet
Blindness TP63 phenotype C0456909 Biomarker 0.02 disgenet
Blindness GUCA1A phenotype C0456909 GeneticVariation 0.02 disgenet
Blindness PNPLA6 phenotype C0456909 Biomarker 0.02 disgenet
Blindness RPE phenotype C0456909 GeneticVariation 0.02 disgenet
Blindness SOX2 phenotype C0456909 AlteredExpression 0.02 disgenet
Blindness HIF1A phenotype C0456909 Biomarker 0.02 disgenet
Blindness PLXNA2 phenotype C0456909 Biomarker 0.02 disgenet
Blindness INS phenotype C0456909 Biomarker 0.02 disgenet
Blindness HTRA1 phenotype C0456909 GeneticVariation 0.02 disgenet
Blindness MOG phenotype C0456909 Biomarker 0.02 disgenet
Blindness NMNAT1 phenotype C0456909 GeneticVariation 0.02 disgenet
Blindness INS phenotype C0456909 GeneticVariation 0.02 disgenet
Blindness STAT1 phenotype C0456909 Biomarker 0.02 disgenet
Blindness OPTN phenotype C0456909 GeneticVariation 0.02 disgenet
Blindness KCNJ13 phenotype C0456909 GeneticVariation 0.02 disgenet
Blindness DHX16 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness RABGEF1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness WDR36 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness IDUA phenotype C0456909 Biomarker 0.01 disgenet
Blindness MS4A1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness MIR144 phenotype C0456909 Biomarker 0.01 disgenet
Blindness BRCA1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness MLRL phenotype C0456909 Biomarker 0.01 disgenet
Blindness TERF2IP phenotype C0456909 Biomarker 0.01 disgenet
Blindness RPSA phenotype C0456909 AlteredExpression 0.01 disgenet
Blindness ATP6V1H phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness STAT3 phenotype C0456909 Biomarker 0.01 disgenet
Blindness CRYBB1 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness CRB2 phenotype C0456909 Biomarker 0.01 disgenet
Blindness RPS27 phenotype C0456909 Biomarker 0.01 disgenet
Blindness CSF2 phenotype C0456909 Biomarker 0.01 disgenet
Blindness TCF21 phenotype C0456909 Biomarker 0.01 disgenet
Blindness NCL phenotype C0456909 Biomarker 0.01 disgenet
Blindness LINC-ROR phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness SLC25A22 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness SLC4A3 phenotype C0456909 Biomarker 0.01 disgenet
Blindness PAX6 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness MPEG1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness ROS1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness CACNA1C phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness ATF6 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness FBLN5 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness SOCS3 phenotype C0456909 Biomarker 0.01 disgenet
Blindness RAP1A phenotype C0456909 Biomarker 0.01 disgenet
Blindness BSG phenotype C0456909 Biomarker 0.01 disgenet
Blindness CCR3 phenotype C0456909 Biomarker 0.01 disgenet
Blindness TFPI phenotype C0456909 Biomarker 0.01 disgenet
Blindness CRYGS phenotype C0456909 Biomarker 0.01 disgenet
Blindness EPO phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness HSPB3 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness HDAC6 phenotype C0456909 Biomarker 0.01 disgenet
Blindness MCDR1 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness TTR phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness MAPT phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness ROCK2 phenotype C0456909 Biomarker 0.01 disgenet
Blindness MCOLN1 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness CLN5 phenotype C0456909 Biomarker 0.01 disgenet
Blindness CORO7 phenotype C0456909 Biomarker 0.01 disgenet
Blindness CNTLN phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness BDNF phenotype C0456909 Biomarker 0.01 disgenet
Blindness RD3 phenotype C0456909 Biomarker 0.01 disgenet
Blindness CKAP4 phenotype C0456909 Biomarker 0.01 disgenet
Blindness UHRF1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness AHSG phenotype C0456909 Biomarker 0.01 disgenet
Blindness CGAS phenotype C0456909 Biomarker 0.01 disgenet
Blindness ADORA2A phenotype C0456909 Biomarker 0.01 disgenet
Blindness ABCG2 phenotype C0456909 Biomarker 0.01 disgenet
Blindness FGF2 phenotype C0456909 Biomarker 0.01 disgenet
Blindness ATF6B phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness CD80 phenotype C0456909 AlteredExpression 0.01 disgenet
Blindness ASRGL1 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness ATOH7 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness SETD2 phenotype C0456909 Biomarker 0.01 disgenet
Blindness MIR132 phenotype C0456909 Biomarker 0.01 disgenet
Blindness SLC4A4 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness SERPINF1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness ABCG1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness ABHD12 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness NOS1 phenotype C0456909 AlteredExpression 0.01 disgenet
Blindness CHML phenotype C0456909 Biomarker 0.01 disgenet
Blindness OLFM4 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness SST phenotype C0456909 AlteredExpression 0.01 disgenet
Blindness ALDH1A1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness TTK phenotype C0456909 Biomarker 0.01 disgenet
Blindness PCDH15 phenotype C0456909 Biomarker 0.01 disgenet
Blindness CRYBB2 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness CASP4 phenotype C0456909 Biomarker 0.01 disgenet
Blindness MPI phenotype C0456909 Biomarker 0.01 disgenet
Blindness RPF2 phenotype C0456909 Biomarker 0.01 disgenet
Blindness CDKN2B-AS1 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness STARD9 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness CYP1B1 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness CCDC102B phenotype C0456909 Biomarker 0.01 disgenet
Blindness DICER1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness SUCNR1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness CLC phenotype C0456909 Biomarker 0.01 disgenet
Blindness AVP phenotype C0456909 Biomarker 0.01 disgenet
Blindness IRAK1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness ARL13B phenotype C0456909 Biomarker 0.01 disgenet
Blindness CES1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness TST phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness ERG phenotype C0456909 Biomarker 0.01 disgenet
Blindness ALPG phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness PPARGC1A phenotype C0456909 AlteredExpression 0.01 disgenet
Blindness LCN2 phenotype C0456909 Biomarker 0.01 disgenet
Blindness SIX6 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness ACKR1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness MASP1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness RBP4 phenotype C0456909 AlteredExpression 0.01 disgenet
Blindness EPHX2 phenotype C0456909 Biomarker 0.01 disgenet
Blindness CLCN3 phenotype C0456909 Biomarker 0.01 disgenet
Blindness CEP78 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness TIMM8A phenotype C0456909 Biomarker 0.01 disgenet
Blindness DPYSL5 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness CLN6 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness KRT20 phenotype C0456909 Biomarker 0.01 disgenet
Blindness UVRAG phenotype C0456909 Biomarker 0.01 disgenet
Blindness LAMC2 phenotype C0456909 Biomarker 0.01 disgenet
Blindness FOXC1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness TGFB1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness FHL1 phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness FASN phenotype C0456909 Biomarker 0.01 disgenet
Blindness PDC phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness PLTP phenotype C0456909 Biomarker 0.01 disgenet
Blindness TNFRSF14 phenotype C0456909 Biomarker 0.01 disgenet
Blindness ARG2 phenotype C0456909 AlteredExpression 0.01 disgenet
Blindness USH1C phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness NEO1 phenotype C0456909 Biomarker 0.01 disgenet
Blindness VCP phenotype C0456909 GeneticVariation 0.01 disgenet
Blindness UCHL1 NA C0456909 NA NA orphanet
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