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.
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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.600 None 0.952 21 1999 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.410 None 1.000 9 7 2011 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.400 None 0.965 57 6 1998 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.400 None 1.000 33 6 1997 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.400 None 1.000 18 1 2000 2017
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.400 None 1.000 1 2011 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.400 None 1.000 1 2011 2011
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.370 None 1.000 8 6 2000 2018
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.360 None 1.000 8 2007 2020
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.360 None 0.857 7 2003 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.360 None 1.000 7 1 2004 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.360 None 1.000 7 1 2007 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.350 None 1.000 6 2005 2015
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.340 None 1.000 5 2002 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.340 None 1.000 5 1 2004 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.340 None 1.000 4 2008 2011
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.330 None 1.000 4 1 2003 2011
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.320 None 1.000 5 2004 2015
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.320 None 1.000 3 2003 2008
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
disease Neoplasms Neoplastic Process 767 118 0.320 None 1.000 3 2008 2017
CUI: C0241210
Disease: Speech Delay
Speech Delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 58 11 0.320 None 1.000 2 2011 2011
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.310 None 1.000 2 2005 2008
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.310 None 1.000 2 2005 2013
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 2005 2008