Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. It elongates telomeres. It is a reverse transcriptase that adds simple sequence repeats ...[+]

Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. It elongates telomeres. It is a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. [-]

             aplastic anemia
             dyskeratosis congenita
             acute myeloid leukemia
             autosomal dominant dyskeratosis congenita 1
             autosomal dominant dyskeratosis congenita 2
             autosomal recessive dyskeratosis congenita 4

          APLASTIC ANEMIA
          INTERSTITIAL LUNG DISEASE 2; ILD2
          DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1
          MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9
          DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2
          PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1; PFB

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD