ALAD, aminolevulinate dehydratase, 210

N. diseases: 135; N. variants: 8
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: C2748608
Disease: LEAD POISONING, SUSCEPTIBILITY TO
LEAD POISONING, SUSCEPTIBILITY TO
phenotype Finding 1 0.300 None 1.000 2 1991 2006
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom
phenotype Sign or Symptom 95 12 0.010 None 1.000 1 2007 2007
CUI: C0240602
Disease: opioid use
opioid use
disease Mental or Behavioral Dysfunction 39 5 0.010 None 1.000 1 1 2018 2018
CUI: C4732730
Disease: Blood spots
Blood spots
disease Disease or Syndrome 117 0.010 None 1.000 1 2017 2017
Elevated urinary delta-aminolevulinic acid
phenotype Finding 3 1 0.100 None 0
CUI: C2749625
Disease: Motor axonal neuropathy
Motor axonal neuropathy
phenotype Finding 27 4 0.100 None 0
CUI: C4016013
Disease: PORPHYRIA, ACUTE HEPATIC, DIGENIC
PORPHYRIA, ACUTE HEPATIC, DIGENIC
disease Finding 1 1 0.100 None 0 1
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.320 None 1.000 2 2001 2010
CUI: C0023176
Disease: Lead Poisoning
Lead Poisoning
disease Chemically-Induced Disorders Injury or Poisoning 9 0.500 None 1.000 5 2006 2014
CUI: C0232488
Disease: Abdominal colic
Abdominal colic
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 2 1 0.100 None 0
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 0.730 None 1.000 8 5 1991 2016
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 0.500 None 1.000 3 1984 1991
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 0.030 None 1.000 3 1981 1999
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 25 7 0.010 None 1.000 1 1987 1987
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 93 45 0.200 None 1.000 1 1988 1988
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 83 62 0.010 None 1.000 1 2016 2016
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 0.010 None 1.000 1 1983 1983
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 1019 100 0.300 None 1.000 1 2014 2014
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction
phenotype Digestive System Diseases Finding 73 0.300 None 1.000 1 2014 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2003 2003
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.210 None 1.000 2 2007 2007
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.300 None 1.000 2 2013 2014
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.200 None 1.000 1 2009 2009
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.200 None 1.000 1 2011 2011
CUI: C0018939
Disease: Hematological Disease
Hematological Disease
group Hemic and Lymphatic Diseases Disease or Syndrome 255 16 0.300 None 1.000 1 2014 2014