Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hypoventilation DCTN1 phenotype C3203358 Biomarker 0.4 disgenet
Hypoventilation P4HTM phenotype C3203358 Biomarker 0.4 disgenet
Hypoventilation PHOX2B phenotype C3203358 Biomarker 0.19 disgenet
Hypoventilation PHOX2B phenotype C3203358 GeneticVariation 0.19 disgenet
Hypoventilation RET phenotype C3203358 Biomarker 0.11 disgenet
Hypoventilation IPW phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation ASCL1 phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation GDNF phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation PWRN1 phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation MKRN3-AS1 phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation MOGS phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation NDN phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation SNRPN phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation NDUFS6 phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation COLQ phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation NPAP1 phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation PWAR1 phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation MKRN3 phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation MAGEL2 phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation LAMA2 phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation SLC5A7 phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation DMD phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation HERC2 phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation EDN3 phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation SNORD116-1 phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation PMPCA phenotype C3203358 CausalMutation 0.1 disgenet
Hypoventilation SNORD115-1 phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation LAMB2 phenotype C3203358 Biomarker 0.1 disgenet
Hypoventilation BDNF phenotype C3203358 GeneticVariation 0.01 disgenet
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