BDNF, brain derived neurotrophic factor, 627

N. diseases: 992; N. variants: 56
Disease: WAGR Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.370 GeneticVariation disease BEFREE Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and animal models; however, neuroendocrine and epigenetic profiles of individuals with WAGR syndrome remain to be determined. 29061165 2017
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.370 Biomarker disease BEFREE Rare genetic disorders that cause BDNF haploinsufficiency, such as WAGR syndrome, 11p deletion, and 11p inversion, serve as models for understanding the role of BDNF in human energy balance and neurocognition. 27288826 2016
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.370 Biomarker disease BEFREE We hypothesized that BDNF+/- would be associated with more severe cognitive impairment in subjects with WAGR syndrome. 23517654 2014
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.370 GeneticVariation disease BEFREE The variable appearance and/or description of haploinsufficiency for obesity susceptibility in the WAGR syndrome mainly depends on the critical region located within 80 kb of exon 1 of BDNF. 23266638 2013
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.370 GermlineModifyingMutation disease ORPHANET The variable appearance and/or description of haploinsufficiency for obesity susceptibility in the WAGR syndrome mainly depends on the critical region located within 80 kb of exon 1 of BDNF. 23266638 2013
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.370 Biomarker disease BEFREE We hypothesized that the subphenotype of obesity in the WAGR syndrome is attributable to deletions that induce haploinsufficiency of BDNF. 18753648 2008
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.370 AlteredExpression disease LHGDN We hypothesized that the subphenotype of obesity in the WAGR syndrome is attributable to deletions that induce haploinsufficiency of BDNF. 18753648 2008
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.370 GeneticVariation disease BEFREE In particular, BDNF may modulate the risk of autism in WAGR patients as suggested by its link with Rett syndrome as a target of MECP2. 19096215 2008
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.370 GeneticVariation disease BEFREE A 1.7-Mb YAC contig around the human BDNF gene (11p13): integration of the physical, genetic, and cytogenetic maps in relation to WAGR syndrome. 7896291 1994