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
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		0.510 Biomarker disease GENOMICS_ENGLAND Using exome sequencing, we identified mutations in Adrenocortical Dysplasia Homolog (ACD) (encoding TPP1), a component of the telomeric shelterin complex, in one family affected by HH. 25233904 2014
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		0.510 GermlineCausalMutation disease ORPHANET Using exome sequencing, we identified mutations in Adrenocortical Dysplasia Homolog (ACD) (encoding TPP1), a component of the telomeric shelterin complex, in one family affected by HH. 25233904 2014
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		0.510 GeneticVariation disease BEFREE Using exome sequencing, we identified mutations in Adrenocortical Dysplasia Homolog (ACD) (encoding TPP1), a component of the telomeric shelterin complex, in one family affected by HH. 25233904 2014
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.310 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.310 Biomarker disease BEFREE Mutations in genes encoding the shelterin proteins TRF1-interacting nuclear factor 2 (TIN2) and adrenocortical dysplasia homolog (ACD) were identified in dyskeratosis congenita, a syndrome characterized by somatic stem cell dysfunction in multiple organs leading to BM failure and other pleiotropic manifestations. 27135879 2016
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.300 SusceptibilityMutation disease ORPHANET Genetics of familial melanoma: 20 years after CDKN2A. 25431349 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.110 Biomarker group BEFREE The growth rate of tumor masses in TPP-1 or PD-L1 antibody-treated mice was 56% or 71% lower than that in control peptide-treated mice, respectively, indicating that TPP-1 inhibits, or at least retards, tumor growth. 29217732 2018
CUI: C0025202
Disease: melanoma
melanoma 		0.110 GeneticVariation disease BEFREE Six families had mutations in ACD and four families carried TERF2IP variants, which included nonsense mutations in both genes (p.Q320X and p.R364X, respectively) and point mutations that cosegregated with melanoma. 25505254 2015
CUI: C0025202
Disease: melanoma
melanoma 		0.110 Biomarker disease HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.110 Biomarker group HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0014866
Disease: Esophageal Stenosis
Esophageal Stenosis 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO