Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151442
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		0.700 GeneticVariation disease UNIPROT Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 21602826 2011
CUI: C3151442
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		0.700 GeneticVariation disease UNIPROT Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. 21205863 2011
CUI: C3151442
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		0.700 Biomarker disease GENOMICS_ENGLAND Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. 21205863 2011
CUI: C3151442
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		0.700 Biomarker disease GENOMICS_ENGLAND The genetics of dyskeratosis congenita. 22285015 2011
CUI: C3151442
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		0.700 CausalMutation disease CLINVAR
CUI: C3151442
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151442
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		0.700 Biomarker disease CTD_human
CUI: C3151442
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		0.700 Biomarker disease GENOMICS_ENGLAND