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: C1400193
Disease: Absent pituitary
Absent pituitary 		disease Anatomical Abnormality 2 0.010 None 1.000 1 2019 2019
CUI: C0022579
Disease: Keratoderma
Keratoderma 		disease Skin and Connective Tissue Diseases Congenital Abnormality 24 2 0.010 None 1.000 1 2010 2010
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.010 None 1.000 1 2006 2006
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: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		disease Disease or Syndrome 1 25 0.600 None 1.000 21 25 1991 2017
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.080 None 1.000 8 1994 2009
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: 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: C0085605
Disease: Liver Failure
Liver Failure 		disease Digestive System Diseases Disease or Syndrome 293 20 0.140 None 1.000 4 1993 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: 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: C0240066
Disease: Iron deficiency
Iron deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 179 13 0.020 None 1.000 2 2010 2013
CUI: C0267792
Disease: Hepatobiliary disease
Hepatobiliary disease 		disease Digestive System Diseases Disease or Syndrome 14 0.020 None 1.000 2 1992 2006
CUI: C4329489
Disease: Bovine Protoporphyria
Bovine Protoporphyria 		disease Disease or Syndrome 1 0.020 None 1.000 2 1982 1998
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.010 None 1.000 1 2012 2012
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: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 194 269 0.010 None 1.000 1 2017 2017
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 174 187 0.010 None 1.000 1 2004 2004
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 111 14 0.010 None 1.000 1 2019 2019
CUI: C0023281
Disease: Leishmaniasis
Leishmaniasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 198 4 0.010 None 1.000 1 2019 2019
CUI: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 685 148 0.010 None 1.000 1 2013 2013
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.010 None 1.000 1 2010 2010
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 378 36 0.010 None 1.000 1 2009 2009
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 0.010 None 1.000 1 2002 2002