Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 497258
Gene Symbol: BDNF-AS
BDNF-AS
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. 28397838

2018
Entrez Id: 497258
Gene Symbol: BDNF-AS
BDNF-AS
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. 23044507

2012
Entrez Id: 497258
Gene Symbol: BDNF-AS
BDNF-AS
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. 21567907

2011
Entrez Id: 497258
Gene Symbol: BDNF-AS
BDNF-AS
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR New insights into the role of brain-derived neurotrophic factor in synaptic plasticity. 19577647

2009
Entrez Id: 497258
Gene Symbol: BDNF-AS
BDNF-AS
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Brain-derived neurotrophic factor and obesity in the WAGR syndrome. 18753648

2008
Entrez Id: 497258
Gene Symbol: BDNF-AS
BDNF-AS
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Conditional deletion of brain-derived neurotrophic factor in the postnatal brain leads to obesity and hyperactivity. 11579207

2001