Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Klippel Feil Syndrome GDF6 disease C0022738 Biomarker 0.74 orphanet , disgenet
Klippel Feil Syndrome GDF6 disease C0022738 GermlineCausalMutation 0.74 orphanet , disgenet
Klippel Feil Syndrome GDF6 disease C0022738 GeneticVariation 0.74 orphanet , disgenet
Klippel Feil Syndrome GDF3 disease C0022738 GermlineCausalMutation 0.63 orphanet , disgenet
Klippel Feil Syndrome MEOX1 disease C0022738 Biomarker 0.63 orphanet , disgenet
Klippel Feil Syndrome GDF3 disease C0022738 Biomarker 0.63 orphanet , disgenet
Klippel Feil Syndrome GDF3 disease C0022738 GeneticVariation 0.63 orphanet , disgenet
Klippel Feil Syndrome MEOX1 disease C0022738 GeneticVariation 0.63 orphanet , disgenet
Klippel Feil Syndrome MEOX1 disease C0022738 GermlineCausalMutation 0.63 orphanet , disgenet
Klippel Feil Syndrome KMT2A disease C0022738 CausalMutation 0.1 disgenet
Klippel Feil Syndrome MYO18B disease C0022738 GeneticVariation 0.1 orphanet , disgenet
Klippel Feil Syndrome MYH3 disease C0022738 CausalMutation 0.1 disgenet
Klippel Feil Syndrome DKK1 disease C0022738 Biomarker 0.1 disgenet
Klippel Feil Syndrome TBX2 disease C0022738 CausalMutation 0.1 disgenet
Klippel Feil Syndrome PAX1 disease C0022738 GeneticVariation 0.02 disgenet
Klippel Feil Syndrome PAX1 disease C0022738 Biomarker 0.02 disgenet
Klippel Feil Syndrome GDF1 disease C0022738 GeneticVariation 0.01 disgenet
Klippel Feil Syndrome RPS19 disease C0022738 Biomarker 0.01 disgenet
Klippel Feil Syndrome NOG disease C0022738 GeneticVariation 0.01 disgenet
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