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: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 		disease Disease or Syndrome 1 16 0.600 None 1.000 11 16 2005 2016
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
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: C3554574
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 		phenotype Finding 1 0.500 strong 1.000 2 2005 2008
CUI: C3151444
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 		disease Disease or Syndrome 1 2 0.300 None 1.000 1 2 2007 2007
CUI: C3273031
Disease: Primary hepatic neuroendocrine carcinoma
Primary hepatic neuroendocrine carcinoma 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2019 2019
CUI: C0238425
Disease: Hemoglobin SS disease with crisis
Hemoglobin SS disease with crisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
CUI: C1332345
Disease: Atypical Adenomatous Lung Hyperplasia
Atypical Adenomatous Lung Hyperplasia 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2 0.010 None 1.000 1 2002 2002
CUI: C1411876
Disease: Developmental arithmetic disorder
Developmental arithmetic disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 2017 2017
CUI: C3502105
Disease: Dyskeratosis Congenita, Autosomal Recessive
Dyskeratosis Congenita, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome; Congenital Abnormality 3 0.010 None 1.000 1 2007 2007
CUI: C1851970
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 1 0.340 None 1.000 4 2005 2007
CUI: C1704216
Disease: Basaloid carcinoma
Basaloid carcinoma 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2004 2004
CUI: C4727832
Disease: Telomere Syndrome
Telomere Syndrome 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.010 None 1.000 1 2016 2016
CUI: C2216695
Disease: malignant neoplasm of breast stage I
malignant neoplasm of breast stage I 		disease Neoplastic Process 6 0.010 None 1.000 1 2011 2011
CUI: C2347751
Disease: Adult Grade I Meningioma
Adult Grade I Meningioma 		disease Neoplastic Process 6 1 0.010 None 1.000 1 2006 2006
CUI: C2347760
Disease: Childhood Grade I Meningioma
Childhood Grade I Meningioma 		disease Neoplastic Process 6 1 0.010 None 1.000 1 2006 2006
CUI: C4528551
Disease: Anatomic Stage I Breast Cancer AJCC v8
Anatomic Stage I Breast Cancer AJCC v8 		disease Neoplastic Process 6 0.010 None 1.000 1 2011 2011
CUI: C4528571
Disease: Prognostic Stage I Breast Cancer AJCC v8
Prognostic Stage I Breast Cancer AJCC v8 		disease Neoplastic Process 6 0.010 None 1.000 1 2011 2011
CUI: C4023400
Disease: Generalized hypopigmentation of hair
Generalized hypopigmentation of hair 		disease Disease or Syndrome 6 0.100 None 0
CUI: C0016038
Disease: Fibroelastosis
Fibroelastosis 		disease Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2016 2016
CUI: C0238031
Disease: Breast Phyllodes Tumor
Breast Phyllodes Tumor 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 0.010 None 1.000 1 2018 2018
CUI: C1512260
Disease: Grade I Meningioma
Grade I Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 7 1 0.010 None 1.000 1 2006 2006
CUI: C1851972
Disease: Reticular hyperpigmentation
Reticular hyperpigmentation 		phenotype Finding 7 0.100 None 0
CUI: C0278485
Disease: Carcinoma breast stage I
Carcinoma breast stage I 		disease Neoplastic Process 8 0.010 None 1.000 1 2011 2011
CUI: C0150993
Disease: Pitting of nails
Pitting of nails 		phenotype Skin and Connective Tissue Diseases Finding 8 0.100 None 0
CUI: C0152009
Disease: White blood cell abnormality
White blood cell abnormality 		phenotype Hemic and Lymphatic Diseases Finding 8 0.100 None 0