Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55505
Gene Symbol: NOP10
NOP10
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 Biomarker GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620

2017
Entrez Id: 55505
Gene Symbol: NOP10
NOP10
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 Biomarker GENOMICS_ENGLAND The telomere syndromes. 22965356

2012
Entrez Id: 55505
Gene Symbol: NOP10
NOP10
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 Biomarker GENOMICS_ENGLAND The telomere syndromes. 22965356

2012
Entrez Id: 55505
Gene Symbol: NOP10
NOP10
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 Biomarker GENOMICS_ENGLAND However, we show that NOP10, a component of H/ACA snoRNP complexes including telomerase is mutated in a large consanguineous family with classical DC. 17507419

2007