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: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes 		disease Disease or Syndrome 41 0.010 None 1.000 1 2009 2009
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype Finding 64 5 0.100 None 0 1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2006 2008
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.030 None 1.000 3 2010 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.100 None 0
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2013 2013
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		phenotype Immune System Diseases Finding 30 0.100 None 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.110 None 1.000 1 1999 1999
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 0.100 None 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease Disease or Syndrome 271 13 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C4086151
Disease: Childhood Anaplastic Ependymoma
Childhood Anaplastic Ependymoma 		disease Neoplasms Neoplastic Process 9 1 0.010 None 1.000 1 2007 2007
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2014 2014
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: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.100 None 0
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.010 None 1.000 1 2008 2008
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		disease Nervous System Diseases Congenital Abnormality 32 7 0.010 None 1.000 1 2016 2016
CUI: C0009763
Disease: Conjunctivitis
Conjunctivitis 		disease Eye Diseases Disease or Syndrome 82 1 0.100 None 0
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.020 None 1.000 2 2018 2019
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0011334
Disease: Dental caries
Dental caries 		disease Stomatognathic Diseases Disease or Syndrome 330 126 0.100 None 0 1
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0