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TERT - telomerase reverse transcriptase

Synonym(s) : EST2, hEST2, TCS1, TP2, TRT
Previous symbols and names : _
Type : gene with protein product
Chromosomal location : 5p15.33
OMIM: 187270
HGNC: 11730
UniProtKB: O14746
Genatlas: TERT
GenCC: TERT
Ensembl: ENSG00000164362
IUPHAR-DB: -
Reactome: O14746
LOVD: TERT

Diseases list

Disease-causing germline mutation(s) in Dyskeratosis congenita ORPHA:1775
Disease-causing germline mutation(s) in Hoyeraal-Hreidarsson syndrome ORPHA:3322
Disease-causing somatic mutation(s) in Adrenocortical carcinoma ORPHA:1501
Disease-causing somatic mutation(s) in Differentiated thyroid carcinoma ORPHA:146
Disease-causing somatic mutation(s) in Meningioma ORPHA:2495
Part of a fusion gene in Clear cell sarcoma of kidney ORPHA:457246
Major susceptibility factor in Familial melanoma ORPHA:618
Major susceptibility factor in Idiopathic aplastic anemia ORPHA:88
Major susceptibility factor in Idiopathic pulmonary fibrosis ORPHA:2032

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (119)

Research activities on this gene

Specialised Social Services

Eurordis directory

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