Disease: Congenital central hypoventilation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.610 GeneticVariation disease BEFREE Thus, HASH-1 mutations may contribute to the CCHS phenotype in rare cases, consistent with the view that the abnormal chemical control of breathing observed in CCHS patients is due to the impairment of noradrenergic neurons during early steps of brainstem development. 14532329 2003
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.610 Biomarker disease CTD_human
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.610 CausalMutation disease CLINVAR