NOP53, NOP53 ribosome biogenesis factor, 29997

N. diseases: 69; N. variants: 1
Disease: Down Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 GeneticVariation disease BEFREE Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21. 8660983 1996
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 GeneticVariation disease BEFREE The gene encoding the p60 subunit of chromatin assembly factor I (CAF1P60) maps to human chromosome 21q22.2, a region associated with some of the major features of Down syndrome. 8792829 1996