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: C0162532
Disease: Variegate Porphyria
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 21 24 0.900 None 1.000 64 21 1981 2019
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: 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: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 6 5 0.030 None 1.000 3 1995 2010
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.010 None 1.000 1 2014 2014
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: C0021141
Disease: Inappropriate ADH Syndrome
Inappropriate ADH Syndrome 		phenotype Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2018 2018
CUI: C0027583
Disease: Nematode infections
Nematode infections 		group Infections Disease or Syndrome 33 0.010 None 1.000 1 2019 2019
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: C0162533
Disease: Porphyrias, Hepatic
Porphyrias, Hepatic 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 7 0.010 None 1.000 1 2004 2004
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: 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
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: C2936779
Disease: Hydroxymethylbilane Synthase Deficiency
Hydroxymethylbilane Synthase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 None 1.000 1 2002 2002
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		disease Endocrine System Diseases Disease or Syndrome 42 8 0.010 None 1.000 1 2018 2018
CUI: C0151861
Disease: Porphyruria
Porphyruria 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 1 0.100 None 0 1
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		disease Nervous System Diseases Disease or Syndrome 32 3 0.100 None 0
CUI: C2936913
Disease: Porphyria, South African type
Porphyria, South African type 		disease Disease or Syndrome 2 0.300 None 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.100 None 0
CUI: C0039231
Disease: Tachycardia
Tachycardia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 73 8 0.100 None 0
CUI: C0232488
Disease: Abdominal colic
Abdominal colic 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 2 1 0.100 None 0 1
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype Finding 77 4 0.100 None 0
CUI: C0522153
Disease: Urine Discoloration
Urine Discoloration 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 10 1 0.100 None 0 1
CUI: C0522224
Disease: Paralysed
Paralysed 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 68 0.100 None 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		phenotype Skin and Connective Tissue Diseases Finding 123 2 0.100 None 0