Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Congenital central hypoventilation syndrome PHOX2B disease C1275808 CausalMutation 1 orphanet , disgenet
Congenital central hypoventilation syndrome PHOX2B disease C1275808 AlteredExpression 1 orphanet , disgenet
Congenital central hypoventilation syndrome PHOX2B disease C1275808 Biomarker 1 orphanet , disgenet
Congenital central hypoventilation syndrome PHOX2B disease C1275808 GeneticVariation 1 orphanet , disgenet
Congenital central hypoventilation syndrome RET disease C1275808 Biomarker 0.75 disgenet
Congenital central hypoventilation syndrome RET disease C1275808 GeneticVariation 0.75 disgenet
Congenital central hypoventilation syndrome RET disease C1275808 CausalMutation 0.75 disgenet
Congenital central hypoventilation syndrome BDNF disease C1275808 Biomarker 0.62 orphanet , disgenet
Congenital central hypoventilation syndrome BDNF disease C1275808 GeneticVariation 0.62 orphanet , disgenet
Congenital central hypoventilation syndrome ASCL1 disease C1275808 GeneticVariation 0.61 disgenet
Congenital central hypoventilation syndrome ASCL1 disease C1275808 CausalMutation 0.61 disgenet
Congenital central hypoventilation syndrome ASCL1 disease C1275808 Biomarker 0.61 disgenet
Congenital central hypoventilation syndrome GDNF disease C1275808 GeneticVariation 0.6 orphanet , disgenet
Congenital central hypoventilation syndrome EDN3 disease C1275808 GeneticVariation 0.6 orphanet , disgenet
Congenital central hypoventilation syndrome EDN3 disease C1275808 Biomarker 0.6 orphanet , disgenet
Congenital central hypoventilation syndrome GDNF disease C1275808 Biomarker 0.6 orphanet , disgenet
Congenital central hypoventilation syndrome MYO1H disease C1275808 GermlineCausalMutation 0.3 orphanet , disgenet
Congenital central hypoventilation syndrome TLX3 disease C1275808 AlteredExpression 0.22 disgenet
Congenital central hypoventilation syndrome TLX3 disease C1275808 Biomarker 0.22 disgenet
Congenital central hypoventilation syndrome PAH disease C1275808 CausalMutation 0.1 disgenet
Congenital central hypoventilation syndrome DBH disease C1275808 GeneticVariation 0.02 disgenet
Congenital central hypoventilation syndrome DBH disease C1275808 Biomarker 0.02 disgenet
Congenital central hypoventilation syndrome TRIM11 disease C1275808 Biomarker 0.01 disgenet
Congenital central hypoventilation syndrome PRKN disease C1275808 Biomarker 0.01 disgenet
Congenital central hypoventilation syndrome KCNK5 disease C1275808 GeneticVariation 0.01 disgenet
Congenital central hypoventilation syndrome DNMT3B disease C1275808 GeneticVariation 0.01 disgenet
Congenital central hypoventilation syndrome TLX1 disease C1275808 Biomarker 0.01 disgenet
Congenital central hypoventilation syndrome PCBP4 disease C1275808 Biomarker 0.01 disgenet
Congenital central hypoventilation syndrome ZEB2 disease C1275808 GeneticVariation 0.01 disgenet
Congenital central hypoventilation syndrome CBLL2 disease C1275808 Biomarker 0.01 disgenet
Congenital central hypoventilation syndrome CREBBP disease C1275808 Biomarker 0.01 disgenet
Congenital central hypoventilation syndrome RMRP disease C1275808 Biomarker 0.01 disgenet
Congenital central hypoventilation syndrome SLC2A10 disease C1275808 Biomarker 0.01 disgenet
Congenital central hypoventilation syndrome OPN1LW disease C1275808 Biomarker 0.01 disgenet
Congenital central hypoventilation syndrome COL4A5 disease C1275808 Biomarker 0.01 disgenet
Congenital central hypoventilation syndrome PAG1 disease C1275808 Biomarker 0.01 disgenet
Congenital central hypoventilation syndrome EDNRB disease C1275808 Biomarker 0.01 disgenet
Congenital central hypoventilation syndrome MUL1 disease C1275808 Biomarker 0.01 disgenet
Congenital central hypoventilation syndrome EIF4E disease C1275808 Biomarker 0.01 disgenet
Congenital central hypoventilation syndrome TLX2 disease C1275808 GeneticVariation 0.01 disgenet
Congenital central hypoventilation syndrome HPCAL1 disease C1275808 GeneticVariation 0.01 disgenet
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