NHP2, NHP2 ribonucleoprotein, 55651

N. diseases: 91; N. variants: 3
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 ×
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