DPYS, dihydropyrimidinase, 1807

N. diseases: 63; 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: C0037769
Disease: West Syndrome
West Syndrome
disease Nervous System Diseases Disease or Syndrome 149 28 0.010 None 1.000 1 2017 2017
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
phenotype Disease or Syndrome 45 24 0.010 None 1.000 1 2009 2009
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype Finding 41 1 0.100 None 0
CUI: C0036690
Disease: Septicemia
Septicemia
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.030 None 1.000 3 2017 2019
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.030 None 1.000 3 2017 2019
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None 1.000 1 2016 2016
Reduced dihydropyrimidine dehydrogenase activity
phenotype Finding 2 0.100 None 0
CUI: C0815107
Disease: psychological distress
psychological distress
disease Mental or Behavioral Dysfunction 87 10 0.010 None 1.000 1 2017 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2008 2008
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2010 2019
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 418 117 0.020 None 1.000 2 2018 2019
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 74 12 0.100 None 0
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 29 19 0.010 None 1.000 1 2010 2010
CUI: C1368019
Disease: Paget Disease
Paget Disease
disease Neoplasms Neoplastic Process 66 21 0.100 None 1.000 2 1 2010 2011
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans
disease Musculoskeletal Diseases Disease or Syndrome 134 58 0.100 None 1.000 2 2 2010 2011
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2013 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2019 2019
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.010 None 1.000 1 1995 1995
Morphological abnormality of the pyramidal tract
disease Anatomical Abnormality 18 0.100 None 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.020 None 1.000 2 2008 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2010 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2008 2008
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.010 None 1.000 1 2018 2018