TASP1, taspase 1, 55617

N. diseases: 16; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic
0.010 GeneticVariation disease BEFREE TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia. 31350873 2019