NOP10, NOP10 ribonucleoprotein, 55505

N. diseases: 85; N. variants: 1
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857144
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 		0.600 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
CUI: C1857144
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 		0.600 GeneticVariation disease UNIPROT Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. 17507419 2007
CUI: C1857144
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 		0.600 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
CUI: C1857144
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 		0.600 CausalMutation disease CLINVAR