RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Disease: Severe intellectual disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.010 GeneticVariation disease BEFREE A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report. 31806026 2019