DKC1, dyskerin pseudouridine synthase 1, 1736

N. diseases: 168; N. variants: 44
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: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
disease Neoplastic Process 236 4 0.010 None 1.000 1 2019 2019
Monoclonal Gammopathy of Undetermined Significance
disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 227 20 0.010 None 1.000 1 2015 2015
CUI: C0206061
Disease: Pneumonia, Interstitial
Pneumonia, Interstitial
disease Respiratory Tract Diseases Disease or Syndrome 66 9 0.010 None 1.000 1 2014 2014
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None < 0.001 1 2006 2006
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2014 2014
CUI: C0162429
Disease: Malnutrition
Malnutrition
disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.010 None 1.000 1 2004 2004
Congenital pontocerebellar hypoplasia
disease Nervous System Diseases Congenital Abnormality 32 7 0.010 None 1.000 1 2016 2016
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1447 291 0.010 None 1.000 1 2016 2016
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5 0.010 None 1.000 1 2019 2019
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 71 0.010 None < 0.001 1 2013 2013
CUI: C1843366
Disease: NIEMANN-PICK DISEASE, TYPE C2
NIEMANN-PICK DISEASE, TYPE C2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 22 0.010 None 1.000 1 2004 2004
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia
disease Respiratory Tract Diseases Disease or Syndrome 64 2 0.010 None 1.000 1 2019 2019
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 0.010 None 1.000 1 2004 2004
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.010 None 1.000 1 2004 2004
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.010 None 1.000 1 2006 2006
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.010 None 1.000 1 2015 2015
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 2283 178 0.010 None 1.000 1 2014 2014
CUI: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes
disease Disease or Syndrome 41 0.010 None 1.000 1 2009 2009
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 3097 353 0.010 None 1.000 1 2019 2019
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2014 2014
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.010 None 1.000 1 2013 2013
CUI: C0432408
Disease: Trisomy 12
Trisomy 12
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 76 0.010 None 1.000 1 2017 2017
CUI: C0280788
Disease: Anaplastic Ependymoma
Anaplastic Ependymoma
disease Neoplasms Neoplastic Process 28 1 0.010 None 1.000 1 2007 2007
CUI: C0280787
Disease: Adult Anaplastic Ependymoma
Adult Anaplastic Ependymoma
disease Neoplasms Neoplastic Process 9 1 0.010 None 1.000 1 2007 2007
CUI: C0280252
Disease: stage, colon cancer
stage, colon cancer
phenotype Digestive System Diseases; Neoplasms Neoplastic Process 18 2 0.010 None 1.000 1 2010 2010