TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.100 None 1.000 17 1998 2019
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
disease Disease or Syndrome 1 16 0.600 None 1.000 11 16 2005 2016
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 1.000 10 3 2009 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.080 None 1.000 8 2000 2017
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
disease Disease or Syndrome 1 20 0.600 strong 1.000 8 20 2005 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.070 None 0.857 7 1 2011 2017
CUI: C0940937
Disease: precancerous lesions
precancerous lesions
phenotype Neoplastic Process 270 19 0.060 None 1.000 6 1999 2011
Differentiated Thyroid Gland Carcinoma
disease Neoplastic Process 245 80 0.060 None 1.000 6 2016 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.040 None 1.000 4 1 2014 2020
Primary differentiated carcinoma of thyroid gland
disease Neoplastic Process 167 41 0.040 None 1.000 4 2016 2019
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia
phenotype Disease or Syndrome 266 24 0.030 None 1.000 3 1999 2011
Childhood Pleomorphic Xanthoastrocytoma
disease Neoplastic Process 42 7 0.030 None 1.000 3 2018 2019
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.020 None 1.000 2 2001 2018
CUI: C0085662
Disease: Macrocytosis
Macrocytosis
disease Disease or Syndrome 13 0.020 None 1.000 2 2009 2014
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 467 14 0.020 None 1.000 2 2011 2017
CUI: C2745900
Disease: Promyelocytic leukemia
Promyelocytic leukemia
disease Neoplastic Process 255 2 0.020 None 1.000 2 2002 2009
CUI: C3544205
Disease: Ovarian clear cell carcinoma
Ovarian clear cell carcinoma
disease Neoplastic Process 103 0.020 None 1.000 2 2014 2018
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9
phenotype Finding 1 0.500 strong 1.000 2 2005 2008
CUI: C4289580
Disease: Epithelioid glioblastoma
Epithelioid glioblastoma
disease Neoplastic Process 24 3 0.020 None 1.000 2 2017 2018
estrogen receptor-negative breast cancer
disease Neoplastic Process 356 40 0.020 None 1.000 2 1 2009 2011
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2019 2019
CUI: C0278485
Disease: Carcinoma breast stage I
Carcinoma breast stage I
disease Neoplastic Process 8 0.010 None 1.000 1 2011 2011
CUI: C0278504
Disease: Non-small cell lung cancer stage I
Non-small cell lung cancer stage I
disease Neoplastic Process 115 1 0.010 None 1.000 1 2002 2002
CUI: C0280141
Disease: Acute Undifferentiated Leukemia
Acute Undifferentiated Leukemia
disease Neoplastic Process 119 1 0.010 None 1.000 1 2016 2016
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva
disease Neoplastic Process 30 2 0.010 None 1.000 1 2014 2014