Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225284
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 		0.700 CausalMutation disease CLINVAR Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. 25205116 2014
CUI: C4225284
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 		0.700 Biomarker disease GENOMICS_ENGLAND Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. 25233904 2014
CUI: C4225284
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 		0.700 Biomarker disease GENOMICS_ENGLAND Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. 25205116 2014
CUI: C4225284
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 		0.700 Biomarker disease GENOMICS_ENGLAND Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. 25233904 2014
CUI: C4225284
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 		0.700 Biomarker disease GENOMICS_ENGLAND Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. 25205116 2014
CUI: C4225284
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 		0.700 CausalMutation disease CLINVAR Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. 25233904 2014
CUI: C4225284
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 		0.700 GeneticVariation disease UNIPROT Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. 25233904 2014
CUI: C4225284
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4225284
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 		0.700 Biomarker disease CTD_human