Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.330 GeneticVariation group BEFREE Biallelic LARP7 loss-of-function variants underlie Alazami syndrome characterized by growth retardation and intellectual disability. 31467394 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.330 GeneticVariation group BEFREE Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. 29576627 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.330 GeneticVariation group BEFREE Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. 26607181 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.330 Biomarker group CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011