NOP10, NOP10 ribonucleoprotein, 55505

N. diseases: 85; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908092
rs121908092
Entrez Id: 55505;256646
Gene Symbol: NOP10;NUTM1
NOP10;NUTM1
CUI: C1857144
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750 2011
dbSNP: rs121908092
rs121908092
Entrez Id: 55505;256646
Gene Symbol: NOP10;NUTM1
NOP10;NUTM1
CUI: C1857144
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 		0.800 GeneticVariation UNIPROT Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. 17507419 2007
dbSNP: rs121908092
rs121908092
Entrez Id: 55505;256646
Gene Symbol: NOP10;NUTM1
NOP10;NUTM1
CUI: C1857144
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121908092
rs121908092
Entrez Id: 55505;256646
Gene Symbol: NOP10;NUTM1
NOP10;NUTM1
CUI: C0265965
Disease:
Dyskeratosis Congenita 		A 0.700 CausalMutation CLINVAR