HPD, 4-hydroxyphenylpyruvate dioxygenase, 3242

N. diseases: 102; N. variants: 9
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: C0031090
Disease: Periodontal Diseases
Periodontal Diseases 		group Stomatognathic Diseases Disease or Syndrome 326 22 0.020 None 0.500 2 2015 2016
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		disease Stomatognathic Diseases Acquired Abnormality 49 8 0.020 None 0.500 2 2017 2019
CUI: C0011389
Disease: Dental Plaque
Dental Plaque 		phenotype Stomatognathic Diseases Disease or Syndrome 27 0.010 None 1.000 1 2016 2016
CUI: C0011616
Disease: Contact Dermatitis
Contact Dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 110 3 0.010 None 1.000 1 1981 1981
CUI: C0406161
Disease: Seed corn
Seed corn 		phenotype Skin and Connective Tissue Diseases Acquired Abnormality 2 0.010 None 1.000 1 2018 2018
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.100 None 0
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.010 None 1.000 1 1999 1999
CUI: C0278134
Disease: Absence of sensation
Absence of sensation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 111 5 0.010 None 1.000 1 2014 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2012 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2019 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: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.010 None 1.000 1 1992 1992
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2018 2018
CUI: C0220769
Disease: FG syndrome
FG syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases Disease or Syndrome 19 12 0.010 None 1.000 1 1998 1998
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.020 None 0.500 2 2018 2019
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		disease Nervous System Diseases Disease or Syndrome 28 33 0.080 None 1.000 8 1989 2004
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2013 2013
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		group Nervous System Diseases Disease or Syndrome 167 37 0.010 None 1.000 1 1999 1999
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2012 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2012 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.010 None 1.000 1 2019 2019