Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
0.600 Biomarker disease GENOMICS_ENGLAND The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. 27069254 2016
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
0.600 GeneticVariation disease UNIPROT Pulmonary fibrosis, bone marrow failure, and telomerase mutation. 22512499 2012
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
0.600 GeneticVariation disease UNIPROT Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. 21483807 2011
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
0.600 GeneticVariation disease UNIPROT Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. 21436073 2011
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
0.600 Biomarker disease GENOMICS_ENGLAND Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. 18042801 2008
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
0.600 Biomarker disease GENOMICS_ENGLAND Telomerase mutations in families with idiopathic pulmonary fibrosis. 17392301 2007
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
0.600 GeneticVariation disease UNIPROT Adult-onset pulmonary fibrosis caused by mutations in telomerase. 17460043 2007
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. 15814878 2005
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
0.600 GeneticVariation disease UNIPROT Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. 15814878 2005
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
0.600 Biomarker disease CTD_human