Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Obesity, Hyperphagia, and Developmental Delay
0.700 Biomarker disease GENOMICS_ENGLAND Diagnostic value of exome and whole genome sequencing in craniosynostosis. 27884935 2017
Obesity, Hyperphagia, and Developmental Delay
0.700 GeneticVariation disease UNIPROT High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083 2017
Obesity, Hyperphagia, and Developmental Delay
0.700 GeneticVariation disease UNIPROT Diagnostic value of exome and whole genome sequencing in craniosynostosis. 27884935 2017
Obesity, Hyperphagia, and Developmental Delay
0.700 Biomarker disease GENOMICS_ENGLAND Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity. 16702999 2007
Obesity, Hyperphagia, and Developmental Delay
0.700 GeneticVariation disease UNIPROT A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. 15494731 2004
Obesity, Hyperphagia, and Developmental Delay
0.700 Biomarker disease GENOMICS_ENGLAND A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. 15494731 2004
Obesity, Hyperphagia, and Developmental Delay
0.700 Biomarker disease GENOMICS_ENGLAND A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. 15494731 2004
Obesity, Hyperphagia, and Developmental Delay
0.700 Biomarker disease CTD_human
Obesity, Hyperphagia, and Developmental Delay
0.700 CausalMutation disease CLINVAR