Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Loken-Senior Syndrome IQCB1 disease C0403553 GeneticVariation 0.69 orphanet , disgenet
Loken-Senior Syndrome IQCB1 disease C0403553 Biomarker 0.69 orphanet , disgenet
Loken-Senior Syndrome IQCB1 disease C0403553 CausalMutation 0.69 orphanet , disgenet
Loken-Senior Syndrome IQCB1 disease C0403553 GermlineCausalMutation 0.69 orphanet , disgenet
Loken-Senior Syndrome NPHP1 disease C0403553 Biomarker 0.61 orphanet , disgenet
Loken-Senior Syndrome NPHP1 disease C0403553 GermlineCausalMutation 0.61 orphanet , disgenet
Loken-Senior Syndrome CEP290 disease C0403553 Biomarker 0.54 orphanet , disgenet
Loken-Senior Syndrome CEP290 disease C0403553 GermlineCausalMutation 0.54 orphanet , disgenet
Loken-Senior Syndrome CEP290 disease C0403553 GeneticVariation 0.54 orphanet , disgenet
Loken-Senior Syndrome NPHP4 disease C0403553 GermlineCausalMutation 0.53 orphanet , disgenet
Loken-Senior Syndrome NPHP4 disease C0403553 GeneticVariation 0.53 orphanet , disgenet
Loken-Senior Syndrome NPHP4 disease C0403553 Biomarker 0.53 orphanet , disgenet
Loken-Senior Syndrome WDR19 disease C0403553 GeneticVariation 0.52 orphanet , disgenet
Loken-Senior Syndrome WDR19 disease C0403553 GermlineCausalMutation 0.52 orphanet , disgenet
Loken-Senior Syndrome WDR19 disease C0403553 Biomarker 0.52 orphanet , disgenet
Loken-Senior Syndrome SDCCAG8 disease C0403553 GermlineCausalMutation 0.51 orphanet , disgenet
Loken-Senior Syndrome NPHP3 disease C0403553 GeneticVariation 0.51 orphanet , disgenet
Loken-Senior Syndrome NPHP3 disease C0403553 GermlineCausalMutation 0.51 orphanet , disgenet
Loken-Senior Syndrome SDCCAG8 disease C0403553 Biomarker 0.51 orphanet , disgenet
Loken-Senior Syndrome NPHP3 disease C0403553 Biomarker 0.51 orphanet , disgenet
Loken-Senior Syndrome CEP164 disease C0403553 GermlineCausalMutation 0.5 orphanet , disgenet
Loken-Senior Syndrome CEP164 disease C0403553 Biomarker 0.5 orphanet , disgenet
Loken-Senior Syndrome INVS disease C0403553 GermlineCausalMutation 0.5 orphanet , disgenet
Loken-Senior Syndrome INVS disease C0403553 Biomarker 0.5 orphanet , disgenet
Loken-Senior Syndrome SCLT1 disease C0403553 GeneticVariation 0.31 disgenet
Loken-Senior Syndrome SCLT1 disease C0403553 Biomarker 0.31 disgenet
Loken-Senior Syndrome TRAF3IP1 disease C0403553 GermlineCausalMutation 0.3 orphanet , disgenet
Loken-Senior Syndrome POC1B disease C0403553 Biomarker 0.3 disgenet
Loken-Senior Syndrome TMEM218 disease C0403553 Biomarker 0.2 disgenet
Loken-Senior Syndrome ALDH3A2 disease C0403553 Biomarker 0.01 disgenet
Loken-Senior Syndrome HNF1B disease C0403553 Biomarker 0.01 disgenet
Loken-Senior Syndrome RPGRIP1L disease C0403553 GeneticVariation 0.01 disgenet
Loken-Senior Syndrome INF2 disease C0403553 Biomarker 0.01 disgenet
Loken-Senior Syndrome DNAJC13 disease C0403553 Biomarker 0.01 disgenet
Loken-Senior Syndrome UMOD disease C0403553 Biomarker 0.01 disgenet
Loken-Senior Syndrome RPGR disease C0403553 GeneticVariation 0.01 disgenet
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