DPYD, dihydropyrimidine dehydrogenase, 1806

N. diseases: 249; N. variants: 101
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: C0023014
Disease: Language Development Disorders
Language Development Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 18 0.300 None 1.000 1 2011 2011
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 19 0.090 None 1.000 9 1994 1999
CUI: C0677950
Disease: Stage IV Colorectal Cancer
Stage IV Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 19 2 0.010 None 1.000 1 2012 2012
CUI: C3146251
Disease: Stage IV Colorectal Cancer AJCC v7
Stage IV Colorectal Cancer AJCC v7
disease Neoplastic Process 19 2 0.010 None 1.000 1 2012 2012
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 20 30 0.010 None 1.000 1 2 2017 2017
CUI: C0018675
Disease: Head Neoplasms
Head Neoplasms
group Neoplasms Neoplastic Process 24 0.300 None 1.000 1 2008 2008
CUI: C0887900
Disease: Upper Aerodigestive Tract Neoplasms
Upper Aerodigestive Tract Neoplasms
group Neoplasms Neoplastic Process 24 0.300 None 1.000 1 2008 2008
CUI: C0746787
Disease: Cancer of Neck
Cancer of Neck
disease Neoplasms Neoplastic Process 25 0.300 None 1.000 1 2008 2008
CUI: C0151544
Disease: Gastrointestinal carcinoma
Gastrointestinal carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 26 3 0.010 None 1.000 1 2007 2007
Malignant neoplasm of cardioesophageal junction of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 26 0.010 None 1.000 1 2015 2015
CUI: C1112160
Disease: Gastrooesophageal cancer
Gastrooesophageal cancer
disease Neoplastic Process 26 0.010 None 1.000 1 2015 2015
CUI: C4302896
Disease: Hormone sensitive prostate cancer
Hormone sensitive prostate cancer
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 27 0.010 None 1.000 1 2011 2011
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 33 19 0.030 None 1.000 3 2012 2019
CUI: C0751177
Disease: Cancer of Head
Cancer of Head
disease Neoplasms Neoplastic Process 35 0.300 None 1.000 1 2008 2008
CUI: C0854778
Disease: Pancreatic carcinoma resectable
Pancreatic carcinoma resectable
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 35 0.010 None 1.000 1 2017 2017
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 9 0.010 None 1.000 1 2018 2018
CUI: C0019156
Disease: Hepatic Veno-Occlusive Disease
Hepatic Veno-Occlusive Disease
disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 37 2 0.010 None 1.000 1 2011 2011
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 29 0.010 None 1.000 1 2005 2005
CUI: C3146254
Disease: Stage III Colon Cancer AJCC v7
Stage III Colon Cancer AJCC v7
disease Neoplastic Process 42 3 0.020 None 1.000 2 2005 2016
CUI: C4525124
Disease: Stage III Colon Cancer AJCC v8
Stage III Colon Cancer AJCC v8
disease Neoplastic Process 42 3 0.020 None 1.000 2 2005 2016
CUI: C0278480
Disease: Stage III Colon Cancer
Stage III Colon Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 43 3 0.020 None 1.000 2 2005 2016
CUI: C0020877
Disease: Ileitis
Ileitis
disease Digestive System Diseases Disease or Syndrome 44 0.010 None 1.000 1 2014 2014
CUI: C3146250
Disease: Stage III Colorectal Cancer AJCC v7
Stage III Colorectal Cancer AJCC v7
disease Neoplastic Process 44 3 0.010 None 1.000 1 2013 2013
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
phenotype Disease or Syndrome 45 24 0.010 None 1.000 1 2009 2009
CUI: C0677949
Disease: Stage III Colorectal Cancer
Stage III Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 45 3 0.010 None 1.000 1 2013 2013