Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ophthalmoplegia MGME1 phenotype C0029089 Biomarker 0.3 disgenet
Ophthalmoplegia NPC1 phenotype C0029089 Biomarker 0.3 disgenet
Ophthalmoplegia MYH2 phenotype C0029089 GeneticVariation 0.14 orphanet , disgenet
Ophthalmoplegia POLG phenotype C0029089 Biomarker 0.14 disgenet
Ophthalmoplegia POLG phenotype C0029089 GeneticVariation 0.14 disgenet
Ophthalmoplegia RYR1 phenotype C0029089 Biomarker 0.14 disgenet
Ophthalmoplegia RYR1 phenotype C0029089 GeneticVariation 0.14 disgenet
Ophthalmoplegia MYH2 phenotype C0029089 Biomarker 0.14 orphanet , disgenet
Ophthalmoplegia OPA1 phenotype C0029089 Biomarker 0.13 disgenet
Ophthalmoplegia OPA1 phenotype C0029089 GeneticVariation 0.13 disgenet
Ophthalmoplegia SCO2 phenotype C0029089 GeneticVariation 0.12 disgenet
Ophthalmoplegia SCO2 phenotype C0029089 Biomarker 0.12 disgenet
Ophthalmoplegia ATXN2 phenotype C0029089 Biomarker 0.11 disgenet
Ophthalmoplegia ATXN2 phenotype C0029089 GeneticVariation 0.11 disgenet
Ophthalmoplegia ACTA1 phenotype C0029089 Biomarker 0.11 disgenet
Ophthalmoplegia TWNK phenotype C0029089 CausalMutation 0.11 disgenet
Ophthalmoplegia ACTA1 phenotype C0029089 GeneticVariation 0.11 disgenet
Ophthalmoplegia NDUFV1 phenotype C0029089 GeneticVariation 0.11 disgenet
Ophthalmoplegia C12orf65 phenotype C0029089 GeneticVariation 0.11 disgenet
Ophthalmoplegia C12orf65 phenotype C0029089 Biomarker 0.11 disgenet
Ophthalmoplegia TWNK phenotype C0029089 Biomarker 0.11 disgenet
Ophthalmoplegia NDUFV1 phenotype C0029089 Biomarker 0.11 disgenet
Ophthalmoplegia TWNK phenotype C0029089 GeneticVariation 0.11 disgenet
Ophthalmoplegia IMPDH1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFA12 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia WFS1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia KIAA1549 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TULP1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia RHO phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia CA4 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFA4 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia KCND3 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia CRX phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia ND1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SLC19A3 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia RBP3 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia MICU1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia IFT88 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia COX10 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia MERTK phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PLXND1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia KIZ phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia ARL2BP phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TRNK phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PDHA1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PRPF31 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TRNS1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia DNM1L phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia C8orf37 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia ECHS1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia GPC1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SEMA4A phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia HACD1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia AHI1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia CHRNE phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia ABCA4 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia CRB1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia CHRNB1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia ND6 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia DHDDS phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SDHAF1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia FOXRED1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TTC8 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia CERKL phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TSPYL1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NF2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia RPE65 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia MUSK phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia KLHL40 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia COX3 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NR2E3 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia RP1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia KLHL41 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFAF3 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia CYTB phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia ARL6 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PABPN1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PCARE phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFAF6 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFS1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia CNGB1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia POMGNT1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TRNL1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SUFU phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TACO1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia MYO9A phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFAF5 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia RGR phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia MYL2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFA2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia VAMP1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFS3 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TRNQ phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia ZNF513 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PRPF3 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PLEC phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia MTFMT phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SUCLA2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia BBS2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia IDH3A phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia FSCN2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia COX2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia MYMK phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia MAP3K20 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia RP9 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia OFD1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFA9 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TTN phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SURF1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia ROM1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia HGSNAT phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia AGRN phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia IRF2BPL phenotype C0029089 GeneticVariation 0.1 disgenet
Ophthalmoplegia NDUFA13 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia ADA2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SNAP25 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TPM2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia BCS1L phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia FA2H phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SLC18A3 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SLC5A7 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia KLHL7 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia CDHR1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TRNS2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TRNW phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia CLRN1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia ITGA7 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia CHRNA1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SELENON phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PRPF8 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NEK2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFS7 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia IFT172 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFA10 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia RPGR phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFS2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia COX1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFS4 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PET100 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia MAK phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TOPORS phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TRNC phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TRNV phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia REV3L phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TRNF phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PDE6G phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PDE6B phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SLC7A14 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SNRNP200 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SYT2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia AHR phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NEB phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia IMPG2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia BIN1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia GUCA1B phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia STUB1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia ND5 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia USH2A phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia LRAT phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SAG phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PDE6A phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia CHAT phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia IDH3B phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TPM3 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia RLBP1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia EARS2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PRCD phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia RP2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia RDH12 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia ZNF408 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SMARCB1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NRL phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PRPH2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia BEST1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFAF2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia CRAT phenotype C0029089 GeneticVariation 0.1 disgenet
Ophthalmoplegia COX15 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia AGBL5 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SPEG phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PROM1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SLC9A6 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PRPF4 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia ATXN7 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SDHD phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SLC25A1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia LIPT1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia CISD2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SDHA phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia DHX38 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFB8 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia EYS phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia TUB phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia GBA phenotype C0029089 Biomarker 0.1 orphanet , disgenet
Ophthalmoplegia SCN4A phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia COL13A1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia ARL3 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PRPF6 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PIEZO2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SPATA7 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia SCAPER phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia FAM161A phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia CHRND phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PDGFB phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFS8 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia ADPRS phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia ARHGEF18 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia PEX11B phenotype C0029089 CausalMutation 0.1 disgenet
Ophthalmoplegia REEP6 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia LMOD3 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia NDUFV2 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia IFT140 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia FDXR phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia CNGA1 phenotype C0029089 Biomarker 0.1 disgenet
Ophthalmoplegia KIF21A phenotype C0029089 GeneticVariation 0.03 disgenet
Ophthalmoplegia KIF21A phenotype C0029089 AlteredExpression 0.03 disgenet
Ophthalmoplegia SLC25A4 phenotype C0029089 GeneticVariation 0.02 disgenet
Ophthalmoplegia TYMP phenotype C0029089 GeneticVariation 0.02 disgenet
Ophthalmoplegia RMRP phenotype C0029089 GeneticVariation 0.01 disgenet
Ophthalmoplegia LY6E phenotype C0029089 GeneticVariation 0.01 disgenet
Ophthalmoplegia ATXN3 phenotype C0029089 GeneticVariation 0.01 disgenet
Ophthalmoplegia TGFB1 phenotype C0029089 Biomarker 0.01 disgenet
Ophthalmoplegia ATP6 phenotype C0029089 GeneticVariation 0.01 disgenet
Ophthalmoplegia TRNL2 phenotype C0029089 GeneticVariation 0.01 disgenet
Ophthalmoplegia PPP6R2 phenotype C0029089 Biomarker 0.01 disgenet
Ophthalmoplegia VCP phenotype C0029089 GeneticVariation 0.01 disgenet
Ophthalmoplegia ECEL1 phenotype C0029089 GeneticVariation 0.01 disgenet
Ophthalmoplegia FBN1 phenotype C0029089 GeneticVariation 0.01 disgenet
Ophthalmoplegia FGF14 phenotype C0029089 GeneticVariation 0.01 disgenet
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