Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 Biomarker group BEFREE Mutations located peripheral to the Ntrk1 protein do not influence important functional domains and tend to cause milder symptoms without intellectual disability. 29619836 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 GeneticVariation group BEFREE We propose that distinct disease-causing mutations of TrkA generate different levels of cell toxicity, which may provide an explanation of the variable intellectual disability observed in CIPA patients. 27551041 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 GeneticVariation group BEFREE Recently, three mutations in the tyrosine kinase domain of TRKA have been reported in patients with congenital insensitivity to pain with anhidrosis, which is an autosomal recessive disorder characterized by recurrent fever due to absence of sweating, no reaction to noxious stimuli, self-mutilating behavior, and mental retardation. 10233776 1999
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 Biomarker group HPO