Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
0.620 Biomarker GENOMICS_ENGLAND Risk Factor Genes in Patients with Dystonia: A Comprehensive Review. 30643666

2018

Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
0.620 Biomarker GENOMICS_ENGLAND Role of BDNF in central motor structures and motor diseases. 23649659

2013

Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
0.620 Biomarker 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

Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
0.620 GeneticVariation 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

Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
0.620 GeneticVariation 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

Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
0.620 GeneticVariation 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

Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
0.620 GeneticVariation 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