FAH, fumarylacetoacetate hydrolase, 2184

N. diseases: 78; N. variants: 56
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: C0268486
Disease: Hereditary hypertyrosinemia
Hereditary hypertyrosinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.010 None 1.000 1 1983 1983
CUI: C1848695
Disease: Episodic peripheral neuropathy
Episodic peripheral neuropathy 		phenotype Finding 1 0.100 None 0
CUI: C1291607
Disease: Deficiency of maleylacetoacetate isomerase
Deficiency of maleylacetoacetate isomerase 		disease Disease or Syndrome 2 4 0.010 None 1.000 1 1 2018 2018
CUI: C1833323
Disease: Rickets of the lower limbs
Rickets of the lower limbs 		phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases Finding 3 0.100 None 0
CUI: C1848702
Disease: Elevated urinary delta-aminolevulinic acid
Elevated urinary delta-aminolevulinic acid 		phenotype Finding 3 1 0.100 None 0
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 6 0.300 None 1.000 2 2003 2014
CUI: C0030446
Disease: Paralytic Ileus
Paralytic Ileus 		disease Digestive System Diseases Disease or Syndrome 4 1 0.100 None 0
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 7 18 0.300 None 1.000 2 2003 2014
CUI: C1291312
Disease: Deficiency of oxidase
Deficiency of oxidase 		disease Disease or Syndrome 7 0.010 None 1.000 1 1983 1983
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		phenotype Finding 11 0.100 None 0
CUI: C0597167
Disease: Islets of Langerhans hyperplasia
Islets of Langerhans hyperplasia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 12 0.100 None 0
CUI: C1879362
Disease: Hypertyrosinemia
Hypertyrosinemia 		disease Disease or Syndrome 13 2 0.060 None 0.833 6 1 1990 2016
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype Laboratory Procedure 13 0.300 strong 1.000 1 2016 2016
CUI: C0235971
Disease: Elevated alpha-fetoprotein
Elevated alpha-fetoprotein 		phenotype Finding 14 1 0.100 None 0
CUI: C0268621
Disease: Hepatic methionine adenosyltransferase deficiency
Hepatic methionine adenosyltransferase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 16 15 0.010 None 1.000 1 2011 2011
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 16 3 0.110 None 1.000 1 2011 2011
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 17 3 0.500 None 0.967 30 3 1985 2018
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 17 0.100 None 0
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 56 1.000 definitive 0.990 101 55 1981 2019
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 10 0.100 None 0
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 11 0.100 None 0
CUI: C0037231
Disease: Sjogren-Larsson Syndrome
Sjogren-Larsson Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 20 28 0.010 None 1.000 1 1997 1997
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		phenotype Finding 27 2 0.100 None 0
CUI: C1704375
Disease: Hypophosphatemic Rickets
Hypophosphatemic Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 29 6 0.100 None 0
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 32 0.100 None 0