Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 GeneticVariation group BEFREE Here, we show that cell lines derived from ID-affected individuals expressing only ADAT3-V144M exhibit decreased wobble inosine in certain tRNAs. 31263000 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 Biomarker group BEFREE A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome. 30296593 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 Biomarker group BEFREE ADAT3-related intellectual disability is an important recognizable cause of intellectual disability in Arabia. 26842963 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 Biomarker group HPO