Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hoyeraal Hreidarsson syndrome TERT disease C1846142 GeneticVariation 0.62 orphanet , disgenet
Hoyeraal Hreidarsson syndrome TERT disease C1846142 Biomarker 0.62 orphanet , disgenet
Hoyeraal Hreidarsson syndrome TERT disease C1846142 GermlineCausalMutation 0.62 orphanet , disgenet
Hoyeraal Hreidarsson syndrome RTEL1 disease C1846142 Biomarker 0.59 orphanet , disgenet
Hoyeraal Hreidarsson syndrome RTEL1 disease C1846142 GermlineCausalMutation 0.59 orphanet , disgenet
Hoyeraal Hreidarsson syndrome RTEL1 disease C1846142 GeneticVariation 0.59 orphanet , disgenet
Hoyeraal Hreidarsson syndrome DKC1 disease C1846142 Biomarker 0.55 orphanet , disgenet
Hoyeraal Hreidarsson syndrome DKC1 disease C1846142 GeneticVariation 0.55 orphanet , disgenet
Hoyeraal Hreidarsson syndrome DKC1 disease C1846142 GermlineCausalMutation 0.55 orphanet , disgenet
Hoyeraal Hreidarsson syndrome ACD disease C1846142 GermlineCausalMutation 0.51 orphanet , disgenet
Hoyeraal Hreidarsson syndrome ACD disease C1846142 GeneticVariation 0.51 orphanet , disgenet
Hoyeraal Hreidarsson syndrome ACD disease C1846142 Biomarker 0.51 orphanet , disgenet
Hoyeraal Hreidarsson syndrome TINF2 disease C1846142 Biomarker 0.5 orphanet , disgenet
Hoyeraal Hreidarsson syndrome TINF2 disease C1846142 GermlineCausalMutation 0.5 orphanet , disgenet
Hoyeraal Hreidarsson syndrome PARN disease C1846142 GermlineCausalMutation 0.32 orphanet , disgenet
Hoyeraal Hreidarsson syndrome PARN disease C1846142 GeneticVariation 0.32 orphanet , disgenet
Hoyeraal Hreidarsson syndrome DCLRE1B disease C1846142 GeneticVariation 0.31 disgenet
Hoyeraal Hreidarsson syndrome TERC disease C1846142 Biomarker 0.31 disgenet
Hoyeraal Hreidarsson syndrome DCLRE1B disease C1846142 Biomarker 0.31 disgenet
Hoyeraal Hreidarsson syndrome TERC disease C1846142 GeneticVariation 0.31 disgenet
Hoyeraal Hreidarsson syndrome NOP10 disease C1846142 Biomarker 0.3 disgenet
Hoyeraal Hreidarsson syndrome NHP2 disease C1846142 Biomarker 0.3 disgenet
Hoyeraal Hreidarsson syndrome GLUD1 disease C1846142 GeneticVariation 0.02 disgenet
Hoyeraal Hreidarsson syndrome GALNT3 disease C1846142 GeneticVariation 0.02 disgenet
Hoyeraal Hreidarsson syndrome F2R disease C1846142 GeneticVariation 0.01 disgenet
Hoyeraal Hreidarsson syndrome TPP1 disease C1846142 GeneticVariation 0.01 disgenet
Hoyeraal Hreidarsson syndrome IL6 disease C1846142 Biomarker 0.01 disgenet
Hoyeraal Hreidarsson syndrome MTG1 disease C1846142 GeneticVariation 0.01 disgenet
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