SP110, SP110 nuclear body protein, 3431

N. diseases: 65; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024312
Disease: Lymphopenia
Lymphopenia
0.010 GeneticVariation disease BEFREE This approach will fail to identify VODI patients because the disease is not associated with severe T cell lymphopenia at birth; (2) the SP110 gene contains 17 exons, making it a challenge for Sanger sequencing. 28825155 2017