NOP10, NOP10 ribonucleoprotein, 55505

N. diseases: 85; N. variants: 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
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 Biomarker disease BEFREE Loss of function of dyskerin (DKC1), NOP10 and TIN2 are responsible for different inheritance patterns of Dyskeratosis congenita (DC; ORPHA1775). 29055871 2018
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 Biomarker disease GENOMICS_ENGLAND The telomere syndromes. 22965356 2012
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 Biomarker disease GENOMICS_ENGLAND The telomere syndromes. 22965356 2012
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 Biomarker disease BEFREE Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita. 22117216 2011
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 GeneticVariation disease BEFREE We found that the most prevalent dyskerin mutation in DC (A353V) did not affect formation of the NAF1-dyskerin-NOP10-NHP2 tetramer that normally assembles with nascent H/ACA RNAs in vivo. 20008900 2010
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 GeneticVariation disease BEFREE Telomerase complex genes mutations (DKC1, TERC, TERT, and NOP10) lead to premature telomere shortening and are responsible for different forms of dyskeratosis congenita. 18989882 2009
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 GeneticVariation disease BEFREE Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure syndrome, have abnormalities in telomere biology, including very short telomeres and germline mutations in DKC1, TERC, TERT, or NOP10, but approximately 60% of DC patients lack an identifiable mutation. 18252230 2008
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 GeneticVariation disease LHGDN 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
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 Biomarker disease 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
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 GeneticVariation disease BEFREE 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
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 Biomarker disease BEFREE Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita. 16427014 2006
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.470 CausalMutation disease CLINVAR
CUI: C3502105
Disease: Dyskeratosis Congenita, Autosomal Recessive
Dyskeratosis Congenita, Autosomal Recessive 		0.310 GeneticVariation disease BEFREE Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. 17507419 2007
CUI: C3502105
Disease: Dyskeratosis Congenita, Autosomal Recessive
Dyskeratosis Congenita, Autosomal Recessive 		0.310 Biomarker disease CTD_human
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
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.100 Biomarker disease HPO
CUI: C0005741
Disease: Blepharitis
Blepharitis 		0.100 Biomarker disease HPO
CUI: C0011334
Disease: Dental caries
Dental caries 		0.100 Biomarker disease HPO