HPD, 4-hydroxyphenylpyruvate dioxygenase, 3242

N. diseases: 83; N. variants: 3
Source: BEFREE ×
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: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 1 0.940 moderate 1.000 4 1 1972 2012
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 3 0.730 None 1.000 3 3 2000 2016
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 16 3 0.440 None 1.000 4 2006 2019
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 17 3 0.360 None 1.000 6 2002 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1229 306 0.100 None 0.941 17 1996 2019
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		disease Nervous System Diseases Disease or Syndrome 28 7 0.080 None 1.000 8 1989 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10153 1571 0.050 None 0.800 5 2008 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.030 None 1.000 3 2017 2019
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		disease Musculoskeletal Diseases Congenital Abnormality 64 13 0.030 None 1.000 3 2017 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8577 1441 0.030 None 1.000 3 2017 2019
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases 		group Stomatognathic Diseases Disease or Syndrome 309 22 0.020 None 0.500 2 2015 2016
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 198 139 0.020 None 1.000 2 2004 2006
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		disease Stomatognathic Diseases Acquired Abnormality 49 8 0.020 None 0.500 2 2017 2019
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 419 120 0.020 None 1.000 2 2018 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6500 2145 0.020 None 1.000 2 2012 2019
CUI: C1609538
Disease: Latent Tuberculosis
Latent Tuberculosis 		disease Infections Disease or Syndrome 183 18 0.020 None 1.000 2 2017 2019
CUI: C3249881
Disease: Infection - suppurative
Infection - suppurative 		group Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 20 0.020 None 1.000 2 2017 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6481 2154 0.020 None 1.000 2 2012 2019
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 650 38 0.020 None 0.500 2 2018 2019
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.020 None 1.000 2 2018 2019
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 0.020 None 1.000 2 1999 2012
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 177 133 0.020 None 1.000 2 2004 2006
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4280 858 0.010 None 1.000 1 2008 2008
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6241 355 0.010 None 1.000 1 2019 2019
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 21 1 0.010 None 1.000 1 2005 2005