Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
0.620 Biomarker disease GENOMICS_ENGLAND Risk Factor Genes in Patients with Dystonia: A Comprehensive Review. 30643666 2018
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
0.620 Biomarker disease GENOMICS_ENGLAND Role of BDNF in central motor structures and motor diseases. 23649659 2013
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
0.620 Biomarker disease GENOMICS_ENGLAND Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations. 15657604 2005
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
0.620 GeneticVariation disease BEFREE Other mutations, generally inherited from one of the parents, in the coding regions of genes involved in the endothelin and RET signaling pathways and in the brain-derived-neurotrophic factor (BDNF) gene have been found in a few CCHS patients. 14739359 2004
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
0.620 GeneticVariation disease ORPHANET The objective of this study was to determine the frequency of BDNF mutations among 19 children with CCHS (five with HSCR) compared to 40 unaffected unrelated controls. 11840487 2002
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
0.620 GeneticVariation disease UNIPROT The objective of this study was to determine the frequency of BDNF mutations among 19 children with CCHS (five with HSCR) compared to 40 unaffected unrelated controls. 11840487 2002
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
0.620 GeneticVariation disease BEFREE The objective of this study was to determine the frequency of BDNF mutations among 19 children with CCHS (five with HSCR) compared to 40 unaffected unrelated controls. 11840487 2002