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: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 764 20 0.300 None 1.000 2 2007 2008
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.300 None 1.000 2 2011 2011
CUI: C3495551
Disease: Dihydropyrimidinuria
Dihydropyrimidinuria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 1.000 2 1996 2005
Purine-Pyrimidine Metabolism, Inborn Errors
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.300 None 1.000 2 1988 2004
CUI: C0023012
Disease: Language Delay
Language Delay
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 11 0.300 None 1.000 1 2011 2011
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: C0454655
Disease: Semantic-Pragmatic Disorder
Semantic-Pragmatic Disorder
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 11 0.300 None 1.000 1 2011 2011
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.300 None 1.000 1 2001 2001
CUI: C0027533
Disease: Neck Neoplasms
Neck Neoplasms
group Neoplasms Neoplastic Process 132 1 0.300 None 1.000 1 2008 2008
CUI: C0018675
Disease: Head Neoplasms
Head Neoplasms
group Neoplasms Neoplastic Process 24 0.300 None 1.000 1 2008 2008
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms
group Neoplasms Neoplastic Process 124 11 0.300 None 1.000 1 2008 2008
Childhood Ataxia with Central Nervous System Hypomyelinization
disease Nervous System Diseases Disease or Syndrome 59 63 0.300 None 1.000 1 2001 2001
Auditory Processing Disorder, Central
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 0.300 None 1.000 1 2011 2011
CUI: C0751177
Disease: Cancer of Head
Cancer of Head
disease Neoplasms Neoplastic Process 35 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: C0887900
Disease: Upper Aerodigestive Tract Neoplasms
Upper Aerodigestive Tract Neoplasms
group Neoplasms Neoplastic Process 24 0.300 None 1.000 1 2008 2008
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 1 2008 2008
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.300 None 1.000 1 1 2010 2010
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 1 2008 2008
CUI: C0274576
Disease: Poisoning by fluorouracil
Poisoning by fluorouracil
disease Chemically-Induced Disorders Injury or Poisoning 2 0.300 None 0
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 1019 100 0.200 None 1.000 1 1999 1999
CUI: C0036224
Disease: Sarcoma, Yoshida
Sarcoma, Yoshida
disease Neoplasms Neoplastic Process; Experimental Model of Disease 6 0.200 None 1.000 1 1993 1993
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 0.110 None 1.000 1 2011 2011
CUI: C0023380
Disease: Lethargy
Lethargy
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 160 6 0.110 None 1.000 1 2018 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 1 2011 2011