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: 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: C0302874
Disease: Depressive personality disorder
Depressive personality disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2003 2003
CUI: C0034139
Disease: Purine-Pyrimidine Metabolism, Inborn Errors
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: C0750325
Disease: Vomiting, recurrent
Vomiting, recurrent 		phenotype Sign or Symptom 2 0.010 None 1.000 1 2006 2006
CUI: C0274576
Disease: Poisoning by fluorouracil
Poisoning by fluorouracil 		disease Chemically-Induced Disorders Injury or Poisoning 2 0.300 None 0
CUI: C4025582
Disease: Reduced dihydropyrimidine dehydrogenase activity
Reduced dihydropyrimidine dehydrogenase activity 		phenotype Finding 2 0.100 None 0
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
CUI: C0476270
Disease: Cardiovascular symptoms
Cardiovascular symptoms 		phenotype Sign or Symptom 3 0.010 None 1.000 1 2012 2012
CUI: C4531196
Disease: Transthyretin cardiac amyloidosis
Transthyretin cardiac amyloidosis 		disease Disease or Syndrome 3 2 0.010 None 1.000 1 2019 2019
CUI: C1848657
Disease: Long ear
Long ear 		phenotype Finding 3 0.100 None 0
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: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 62 0.800 strong 0.941 51 62 1988 2019
CUI: C0027660
Disease: Neoplasms, Glandular and Epithelial
Neoplasms, Glandular and Epithelial 		group Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2003 2003
CUI: C0852711
Disease: Sickle Cell Dactylitis
Sickle Cell Dactylitis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Chemically-Induced Disorders; Hemic and Lymphatic Diseases Disease or Syndrome 8 7 0.020 None 1.000 2 2 2015 2018
CUI: C4021982
Disease: Abnormal eating behavior
Abnormal eating behavior 		phenotype Mental or Behavioral Dysfunction 8 0.100 None 0
CUI: C0151773
Disease: Bone marrow depression
Bone marrow depression 		disease Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2017 2017
CUI: C0037020
Disease: Shyness
Shyness 		phenotype Behavior and Behavior Mechanisms Social Behavior 9 0.100 None 0
CUI: C0549410
Disease: Palmar-plantar erythrodysesthesia syndrome
Palmar-plantar erythrodysesthesia syndrome 		disease Skin and Connective Tissue Diseases; Chemically-Induced Disorders Disease or Syndrome 11 8 0.020 None 1.000 2 2 2015 2018
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: 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: C0677984
Disease: Locally Advanced Malignant Neoplasm
Locally Advanced Malignant Neoplasm 		disease Neoplastic Process 11 0.010 None 1.000 1 2012 2012
CUI: C0751257
Disease: Auditory Processing Disorder, Central
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: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		disease Disease or Syndrome 12 24 0.020 None 1.000 2 1997 1999
CUI: C0155502
Disease: Benign Paroxysmal Positional Vertigo
Benign Paroxysmal Positional Vertigo 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2017 2017
CUI: C0278502
Disease: recurrent gastric cancer
recurrent gastric cancer 		disease Neoplastic Process 16 0.010 None 1.000 1 2013 2013