TERC, telomerase RNA component, 7012

N. diseases: 296; N. variants: 37
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: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 58 146 0.700 None 1.000 31 29 2001 2019
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
disease Disease or Syndrome 1 9 0.600 strong 1.000 4 9 2002 2018
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.580 None 1.000 11 2007 2019
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 7 0.400 None 1.000 4 6 2001 2012
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 0.360 None 1.000 6 2004 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 0.320 None 0.667 3 2005 2011
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.320 None 1.000 3 2000 2018
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 55 8 0.310 None 1.000 3 2007 2016
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 17 33 0.310 None 1.000 2 2003 2007
CUI: C0348890
Disease: Aplastic anemia, idiopathic
Aplastic anemia, idiopathic
disease Hemic and Lymphatic Diseases Disease or Syndrome 13 0.310 None 1.000 2 2002 2004
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 16 1 0.310 moderate 1.000 2 2003 2003
Familial Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 23 0.300 None 1.000 3 2007 2013
CUI: C4721508
Disease: Hamman-Rich Disease
Hamman-Rich Disease
disease Respiratory Tract Diseases Disease or Syndrome 20 0.300 None 1.000 3 2007 2013
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia
disease Respiratory Tract Diseases Disease or Syndrome 64 2 0.300 None 1.000 3 2007 2013
CUI: C0040411
Disease: Tongue Neoplasms
Tongue Neoplasms
group Neoplasms; Stomatognathic Diseases Neoplastic Process 62 0.300 None 1.000 1 2005 2005
CUI: C0153349
Disease: Malignant neoplasm of tongue
Malignant neoplasm of tongue
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 155 1 0.300 None 1.000 1 2005 2005
CUI: C1851850
Disease: Ectodermal dysplasia adrenal cyst
Ectodermal dysplasia adrenal cyst
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 strong 1.000 1 2002 2002
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.300 None 1.000 1 2006 2006
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 238 30 0.180 None 1.000 8 2003 2019
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.150 None 0.800 5 2008 2016
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.140 None 1.000 4 2004 2012
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.140 None 1.000 4 2006 2014
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.130 None 1.000 4 1 2003 2020
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.120 None 1.000 2 2011 2016
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.120 None 1.000 2 2011 2019