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.
Small cell lung cancer limited stage
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 14 2 0.010 None 1.000 1 2020 2020
Respiratory Distress Syndrome, Adult
disease Respiratory Tract Diseases Disease or Syndrome 434 60 0.010 None 1.000 1 2020 2020
CUI: C0741899
Disease: Poorly differentiated carcinoma
Poorly differentiated carcinoma
phenotype Neoplastic Process 64 2 0.010 None 1.000 1 2020 2020
CUI: C0023827
Disease: liposarcoma
liposarcoma
disease Neoplasms Neoplastic Process 200 6 0.020 None 1.000 2 2019 2019
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
disease Neoplasms Neoplastic Process 143 6 0.020 None 1.000 2 2019 2019
CUI: C0279984
Disease: Childhood Liposarcoma
Childhood Liposarcoma
disease Neoplasms Neoplastic Process 143 6 0.020 None 1.000 2 2019 2019
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 458 92 0.120 None 0.500 2 2019 2019
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 329 23 0.010 None 1.000 1 2019 2019
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma
disease Neoplasms Neoplastic Process 213 5 0.010 None 1.000 1 2019 2019
CUI: C3714636
Disease: Pneumonitis
Pneumonitis
disease Infections; Respiratory Tract Diseases Disease or Syndrome 697 13 0.010 None 1.000 1 2019 2019
Transient erythroblastopenia of childhood
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 23 0.010 None 1.000 1 2019 2019
CUI: C0032000
Disease: Pituitary Adenoma
Pituitary Adenoma
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 170 11 0.010 None 1.000 1 2019 2019
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma
disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 2019 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2019 2019
CUI: C3899649
Disease: Childhood Oligoastrocytoma
Childhood Oligoastrocytoma
disease Neoplasms Neoplastic Process 23 3 0.010 None 1.000 1 2019 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.010 None 1.000 1 3 2019 2019
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma
disease Neoplastic Process 24 1 0.010 None 1.000 1 2019 2019
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 13 0.010 None 1.000 1 2019 2019
CUI: C0451641
Disease: Urolithiasis
Urolithiasis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 33 0.010 None 1.000 1 2019 2019
Primary hepatic neuroendocrine carcinoma
disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2019 2019
CUI: C3665593
Disease: Melanocytic nevus of skin
Melanocytic nevus of skin
disease Neoplasms Neoplastic Process 103 3 0.010 None 1.000 1 2019 2019
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 342 108 0.010 None 1.000 1 2019 2019
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.010 None 1.000 1 2019 2019
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
disease Neoplasms Neoplastic Process 162 7 0.010 None 1.000 1 2019 2019
CUI: C0014474
Disease: Ependymoma
Ependymoma
disease Neoplasms Neoplastic Process 244 8 0.010 None 1.000 1 1 2019 2019