TINF2, TERF1 interacting nuclear factor 2, 26277

N. diseases: 158; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
0.110 GeneticVariation disease BEFREE A total of 32 of 33 patients with DC with TINF2 mutations have severe disease, with most developing aplastic anaemia by the age of 10 years. 18669893 2008
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
0.110 Biomarker disease HPO