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: C0268130
Disease: Hereditary orotic aciduria, type 1
Hereditary orotic aciduria, type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 3 0.630 strong 0.833 6 3 1974 2017
CUI: C0268128
Disease: Orotic aciduria
Orotic aciduria 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Finding 6 2 0.400 strong 1.000 1 2 1997 1997
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.330 None 1.000 5 2005 2013
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.320 None 1.000 5 2006 2015
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.320 None 1.000 5 2005 2008
CUI: C0220987
Disease: Hereditary orotic aciduria
Hereditary orotic aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.320 None 1.000 4 1997 2017
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.320 None 1.000 2 2005 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.310 None 1.000 3 2008 2014
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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.310 None 1.000 2 2006 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.310 None 1.000 2 2007 2007
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 312 119 0.300 None 1.000 3 2006 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.300 strong 1.000 2 1997 2016
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 2 2008 2009
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.300 None 1.000 2 2005 2009
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 2 2008 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.300 None 1.000 2 2008 2009
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 27 0.300 None 1.000 1 1979 1979
CUI: C0026640
Disease: Mouth Neoplasms
Mouth Neoplasms 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 140 0.300 None 1.000 1 2006 2006
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 756 184 0.300 None 1.000 1 2006 2006
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 53 13 0.300 None 1.000 1 1979 1979
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 53 8 0.300 None 1.000 1 1979 1979
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: C0085578
Disease: Thalassemia Minor
Thalassemia Minor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 18 1 0.300 None 1.000 1 1979 1979