UMPS, uridine monophosphate synthetase, 7372

N. diseases: 102; N. variants: 8
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: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 26 0.100 None 0
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter 		phenotype Finding 19 0.100 None 0
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5 0.300 None 1.000 1 1979 1979
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 68 1 0.100 None 0
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 26 2 0.010 None 1.000 1 2017 2017
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.300 None 1.000 1 1979 1979
CUI: C2698117
Disease: Anisocyte Measurement
Anisocyte Measurement 		phenotype Laboratory Procedure 15 0.100 None 0
CUI: C0221278
Disease: Anisocytosis
Anisocytosis 		phenotype Finding 16 1 0.100 None 0
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 198 103 0.300 None 1.000 1 1979 1979
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.010 None 1.000 1 2009 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.310 None 1.000 3 2008 2014
CUI: C0751753
Disease: Carbamoyl-Phosphate Synthase I Deficiency Disease
Carbamoyl-Phosphate Synthase I Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 0.010 None 1.000 1 2018 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2007 2007
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 2007 2007
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2009 2009
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None < 0.001 1 2005 2005
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 87 46 0.100 None 1.000 1 1 2019 2019
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 877 43 0.010 None 1.000 1 2019 2019
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.300 None 1.000 1 2008 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.330 None 1.000 5 2005 2013
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.350 None 1.000 7 2003 2013
CUI: C0949116
Disease: Congenital hypoplastic anemia
Congenital hypoplastic anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.300 None 1.000 1 1979 1979
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 144 19 0.300 None 1.000 1 1979 1979
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.100 None 1.000 2 2 2017 2018