RAI1, retinoic acid induced 1, 10743

N. diseases: 205; N. variants: 22
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 		0.420 Biomarker group BEFREE These holistic studies of RAI1 and its interactions allow insights into SMS and other disorders associated with intellectual disability and behavioral abnormalities. 27799067 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group BEFREE Haploinsufficiency of RAI1 results in Smith-Magenis syndrome (SMS), a disorder characterized by intellectual disability, multiple congenital anomalies, obesity, neurobehavioral abnormalities, and a disrupted circadian sleep-wake pattern. 22578325 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group CTD_human Haploinsufficiency of RAI1 results in developmental delay, mental retardation, sleep disturbance, self-abusive behaviors, and most features commonly seen in SMS. 19752160 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group HPO