NHP2, NHP2 ribonucleoprotein, 55651

N. diseases: 91; N. variants: 3
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908090
rs121908090
Entrez Id: 55651;64777
Gene Symbol: NHP2;RMND5B
NHP2;RMND5B
CUI: C3151441
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.800 GeneticVariation UNIPROT Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. 18523010 2008
dbSNP: rs121908090
rs121908090
Entrez Id: 55651;64777
Gene Symbol: NHP2;RMND5B
NHP2;RMND5B
CUI: C3151441
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		T 0.800 CausalMutation CLINVAR