Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Occipital horn syndrome ATP7A disease C0268353 AlteredExpression 0.8 orphanet , disgenet
Occipital horn syndrome ATP7A disease C0268353 GeneticVariation 0.8 orphanet , disgenet
Occipital horn syndrome ATP7A disease C0268353 Biomarker 0.8 orphanet , disgenet
Occipital horn syndrome ATP7A disease C0268353 CausalMutation 0.8 orphanet , disgenet
Occipital horn syndrome PGK1 disease C0268353 GeneticVariation 0.1 disgenet
Occipital horn syndrome PGK1 disease C0268353 CausalMutation 0.1 disgenet
Occipital horn syndrome LOX disease C0268353 AlteredExpression 0.04 disgenet
Occipital horn syndrome LOX disease C0268353 Biomarker 0.04 disgenet
Occipital horn syndrome CENPJ disease C0268353 Biomarker 0.04 disgenet
Occipital horn syndrome CENPJ disease C0268353 GeneticVariation 0.04 disgenet
Occipital horn syndrome COPD disease C0268353 Biomarker 0.02 disgenet
Occipital horn syndrome MRPS30 disease C0268353 Biomarker 0.01 disgenet
Occipital horn syndrome TUSC2 disease C0268353 Biomarker 0.01 disgenet
Occipital horn syndrome FBN2 disease C0268353 Biomarker 0.01 disgenet
Occipital horn syndrome SLC35G1 disease C0268353 Biomarker 0.01 disgenet
Occipital horn syndrome POMC disease C0268353 AlteredExpression 0.01 disgenet
Occipital horn syndrome DESI1 disease C0268353 Biomarker 0.01 disgenet
Occipital horn syndrome NOS3 disease C0268353 AlteredExpression 0.01 disgenet
Occipital horn syndrome HSPA5 disease C0268353 GeneticVariation 0.01 disgenet
Occipital horn syndrome ACP3 disease C0268353 Biomarker 0.01 disgenet
Occipital horn syndrome ATOX1 disease C0268353 GeneticVariation 0.01 disgenet
Occipital horn syndrome ASAP2 disease C0268353 Biomarker 0.01 disgenet
Occipital horn syndrome PDAP1 disease C0268353 Biomarker 0.01 disgenet
Occipital horn syndrome MTPAP disease C0268353 Biomarker 0.01 disgenet
Occipital horn syndrome ASAP1 disease C0268353 Biomarker 0.01 disgenet
Occipital horn syndrome PART1 disease C0268353 GeneticVariation 0.01 disgenet
Occipital horn syndrome PAPOLA disease C0268353 Biomarker 0.01 disgenet
Occipital horn syndrome REG3A disease C0268353 Biomarker 0.01 disgenet
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