FECH, ferrochelatase, 2235

N. diseases: 88; N. variants: 25
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: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		disease Disease or Syndrome 1 25 0.600 None 1.000 21 25 1991 2017
CUI: C4329489
Disease: Bovine Protoporphyria
Bovine Protoporphyria 		disease Disease or Syndrome 1 0.020 None 1.000 2 1982 1998
CUI: C1274925
Disease: Skin-ache syndrome
Skin-ache syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.010 None 1.000 1 1998 1998
CUI: C1275125
Disease: Inherited disorder of porphyrin metabolism
Inherited disorder of porphyrin metabolism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2010 2010
CUI: C1400193
Disease: Absent pituitary
Absent pituitary 		disease Anatomical Abnormality 2 0.010 None 1.000 1 2019 2019
CUI: C0349426
Disease: Ferrochelatase deficiency
Ferrochelatase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.300 None 1.000 6 1999 2018
CUI: C0272024
Disease: Secondary acquired sideroblastic anemia
Secondary acquired sideroblastic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 6 2 0.010 None 1.000 1 2007 2007
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 0.210 None 1.000 2 1984 2004
CUI: C0238258
Disease: Lymphangitis carcinomatosa
Lymphangitis carcinomatosa 		disease Neoplasms Neoplastic Process 7 0.010 None < 0.001 1 2019 2019
CUI: C0005395
Disease: Bile Duct Diseases
Bile Duct Diseases 		group Digestive System Diseases Disease or Syndrome 9 0.300 None 1.000 1 1999 1999
CUI: C0221018
Disease: Hereditary sideroblastic anemia
Hereditary sideroblastic anemia 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 1 0.010 None 1.000 1 2019 2019
CUI: C0267792
Disease: Hepatobiliary disease
Hepatobiliary disease 		disease Digestive System Diseases Disease or Syndrome 14 0.020 None 1.000 2 1992 2006
CUI: C0586407
Disease: Skin symptom
Skin symptom 		phenotype Sign or Symptom 19 0.010 None 1.000 1 2009 2009
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 20 26 0.030 None 1.000 3 1999 2019
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 0.030 None 1.000 3 1977 2002
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 0.800 strong 0.992 125 3 1977 2020
CUI: C0022579
Disease: Keratoderma
Keratoderma 		disease Skin and Connective Tissue Diseases Congenital Abnormality 24 2 0.010 None 1.000 1 2010 2010
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism 		group Nutritional and Metabolic Diseases Disease or Syndrome 26 7 0.040 None 1.000 4 1982 2016
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 30 39 0.010 None 1.000 1 2002 2002
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 36 0.100 None 0
CUI: C0278838
Disease: Prostate cancer recurrent
Prostate cancer recurrent 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 54 0.010 None 1.000 1 2017 2017
CUI: C1837352
Disease: Childhood onset
Childhood onset 		phenotype Finding 56 0.100 None 0
CUI: C0860204
Disease: Cholestatic liver disease
Cholestatic liver disease 		disease Digestive System Diseases Disease or Syndrome 58 0.010 None 1.000 1 2006 2006
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		phenotype Finding 59 5 0.100 None 0
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