Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 GeneticVariation group BEFREE Despite NR2F1 mutations and deletions in humans have been linked to a complex neurodevelopmental disease mainly associated to optic atrophy and intellectual disability, its role during the formation of the retina and optic nerve remains unclear. 29709504 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 GeneticVariation group BEFREE In humans, mutations in the NR2F1 gene lead to a global developmental delay and intellectual disabilities. 30653836 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 GeneticVariation group BEFREE The fourth mutation was an in-frame deletion (p.Phe110del) in NR2F1, a gene whose mutations cause intellectual disability, epilepsy, and optic atrophy. 26138355 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 Biomarker group BEFREE These findings indicate that NR2F1 plays an important role in the neurodevelopment of the visual system and that its disruption can lead to optic atrophy with intellectual disability. 24462372 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 Biomarker group HPO