NOP10, NOP10 ribonucleoprotein, 55505

N. diseases: 85; N. variants: 1
Disease: HOYERAAL-HREIDARSSON SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		0.300 Biomarker disease GENOMICS_ENGLAND Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. 17507419 2007