NHP2, NHP2 ribonucleoprotein, 55651

N. diseases: 91; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151441
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.700 Biomarker disease CLINGEN Proteostatic control of telomerase function through TRiC-mediated folding of TCAB1. 25467444 2014
CUI: C3151441
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.700 Biomarker disease CLINGEN Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. 20008900 2010
CUI: C3151441
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.700 Biomarker disease GENOMICS_ENGLAND Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. 20008900 2010
CUI: C3151441
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. 18523010 2008
CUI: C3151441
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.700 Biomarker disease CLINGEN Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. 18523010 2008
CUI: C3151441
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.700 GeneticVariation disease UNIPROT Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. 18523010 2008
CUI: C3151441
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.700 Biomarker disease CLINGEN Stable expression in yeast of the mature form of human telomerase RNA depends on its association with the box H/ACA small nucleolar RNP proteins Cbf5p, Nhp2p and Nop10p. 11160879 2001
CUI: C3151441
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.700 Biomarker disease GENOMICS_ENGLAND Stable expression in yeast of the mature form of human telomerase RNA depends on its association with the box H/ACA small nucleolar RNP proteins Cbf5p, Nhp2p and Nop10p. 11160879 2001
CUI: C3151441
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.700 Biomarker disease CTD_human
CUI: C3151441
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.700 CausalMutation disease CLINVAR
CUI: C3151441
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.430 GeneticVariation disease BEFREE Since the number of patients with DC is small and the effect of genetic pathogenic variant may affect the phenotype, we wanted to present the clinical features and course of illness in a patient with NHP2 gene mutation (compound heterozygote for the NHP2 mutations c.376G>A/c.460T>A; amino acid substitutions: p.Val126Met and p.X154Arg) that occurred as a compound heterozygous state. 30472699 2019
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.430 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.430 Biomarker disease GENOMICS_ENGLAND The telomere syndromes. 22965356 2012
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.430 Biomarker disease GENOMICS_ENGLAND The telomere syndromes. 22965356 2012
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.430 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 		0.430 Biomarker disease GENOMICS_ENGLAND 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 		0.430 GeneticVariation disease BEFREE Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. 18523010 2008
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.430 Biomarker disease GENOMICS_ENGLAND Stable expression in yeast of the mature form of human telomerase RNA depends on its association with the box H/ACA small nucleolar RNP proteins Cbf5p, Nhp2p and Nop10p. 11160879 2001
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.430 CausalMutation disease CLINVAR
CUI: C3502105
Disease: Dyskeratosis Congenita, Autosomal Recessive
Dyskeratosis Congenita, Autosomal Recessive 		0.310 GeneticVariation disease BEFREE We have identified previously uncharacterized NHP2 mutations that can cause autosomal recessive dyskeratosis congenita but have not found any GAR1 mutations. 18523010 2008
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 Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. 20008900 2010
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO