PPOX, protoporphyrinogen oxidase, 5498

N. diseases: 53; N. variants: 28
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: C0232488
Disease: Abdominal colic
Abdominal colic 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 2 1 0.100 None 0 1
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.110 None 1.000 1 2018 2018
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype Finding 75 10 0.100 None 0 2
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 103 68 0.040 None 1.000 4 2002 2015
CUI: C1279945
Disease: Acute interstitial pneumonia
Acute interstitial pneumonia 		disease Respiratory Tract Diseases Disease or Syndrome 88 8 0.010 None 1.000 1 2002 2002
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2015 2015
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.010 None 1.000 1 2014 2014
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 0
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.010 None 1.000 1 2018 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None < 0.001 1 2017 2017
CUI: C0008767
Disease: Cicatrization
Cicatrization 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 13 3 0.100 None 0
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2015 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 1.000 1 2015 2015
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.300 None 1.000 1 2015 2015
CUI: C0009676
Disease: Confusion
Confusion 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 75 5 0.100 None 0
CUI: C0009806
Disease: Constipation
Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 0.100 None 0 1
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.100 None 0
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism 		group Nutritional and Metabolic Diseases Disease or Syndrome 26 7 0.050 None 1.000 5 1 1997 2011
CUI: C0349530
Disease: Early gastric cancer
Early gastric cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 100 2 0.010 None 1.000 1 2018 2018
CUI: C0162568
Disease: Erythropoietic Protoporphyria
Erythropoietic Protoporphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 24 3 0.010 None 1.000 1 2002 2002
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.010 None 1.000 1 2018 2018
CUI: C0233763
Disease: Hallucinations, Visual
Hallucinations, Visual 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 39 5 0.100 None 0
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 855 24 0.010 None 1.000 1 2017 2017
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 13 11 0.010 None 1.000 1 2004 2004
CUI: C0342860
Disease: Homozygous variegate porphyria
Homozygous variegate porphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 4 0.110 None 1.000 1 4 1987 1987