ALAD, aminolevulinate dehydratase, 210

N. diseases: 135; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 GeneticVariation disease BEFREE ALAD porphyria is a recessive disorder; there are two common variant ALAD alleles, which encode K59 and N59, and eight known porphyria-associated ALAD mutations, which encode F12L, E89K, C132R, G133R, V153M, R240W, A274T, and V275M. 17236137 2007
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 GeneticVariation disease UNIPROT ALAD porphyria is a recessive disorder; there are two common variant ALAD alleles, which encode K59 and N59, and eight known porphyria-associated ALAD mutations, which encode F12L, E89K, C132R, G133R, V153M, R240W, A274T, and V275M. 17236137 2007
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 GermlineCausalMutation disease ORPHANET delta-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations. 16343966 2006
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 GeneticVariation disease BEFREE Only four bona fide cases of Doss porphyria have been reported to date that were confirmed by immunological and molecular analyses of their ALAD mutations. 15303011 2004
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 GeneticVariation disease BEFREE Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria. 10706561 2000
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 GeneticVariation disease UNIPROT Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria. 10706561 2000
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 GeneticVariation disease UNIPROT Cloning and expression of the defective genes in delta-aminolevulinate dehydratase porphyria: compound heterozygosity in this hereditary liver disease. 1309003 1992
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 GeneticVariation disease UNIPROT Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria. 1569184 1992
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 GeneticVariation disease UNIPROT delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. 2063868 1991
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 Biomarker disease GENOMICS_ENGLAND delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. 2063868 1991
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 GermlineCausalMutation disease ORPHANET delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. 2063868 1991
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 Biomarker disease CTD_human
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 CausalMutation disease CLINVAR
CUI: C0023176
Disease: Lead Poisoning
Lead Poisoning 		0.500 Biomarker disease CTD_human Investigation of delta-aminolevulinic acid dehydratase polymorphism affecting hematopoietic, hepatic and renal toxicity from lead in Han subjects of southwestern China. 24631795 2014
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.500 Biomarker disease CTD_human Characterization of chemically induced liver injuries using gene co-expression modules. 25226513 2014
CUI: C0023176
Disease: Lead Poisoning
Lead Poisoning 		0.500 Biomarker disease CTD_human Lead concentration in plasma as a biomarker of exposure and risk, and modification of toxicity by δ-aminolevulinic acid dehydratase gene polymorphism. 23792432 2013
CUI: C0023176
Disease: Lead Poisoning
Lead Poisoning 		0.500 Biomarker disease CTD_human The difference in methylation frequencies between exposures and controls was statistically significant (p=0.002), and individuals with methylated ALAD gene showed an increased risk of lead poisoning (adjusted OR=3.57, 95% CI, 1.55-8.18). 21396434 2011
CUI: C0023176
Disease: Lead Poisoning
Lead Poisoning 		0.500 Biomarker disease RGD Oral supplementation of gossypin during lead exposure protects alteration in heme synthesis pathway and brain oxidative stress in rats. 19647414 2010
CUI: C0270824
Disease: Visual seizure
Visual seizure 		0.500 Biomarker disease CTD_human Lipoic acid alters delta-aminolevulinic dehydratase, glutathione peroxidase and Na+,K+-ATPase activities and glutathione-reduced levels in rat hippocampus after pilocarpine-induced seizures. 19798568 2010
CUI: C0270824
Disease: Visual seizure
Visual seizure 		0.500 Biomarker disease RGD Involvement of oxidative stress in seizures induced by diphenyl diselenide in rat pups. 17320826 2007
CUI: C0023176
Disease: Lead Poisoning
Lead Poisoning 		0.500 Biomarker disease RGD Changes in brain biogenic amines and haem biosynthesis and their response to combined administration of succimers and Centella asiatica in lead poisoned rats. 16597373 2006
CUI: C0162533
Disease: Porphyrias, Hepatic
Porphyrias, Hepatic 		0.500 Biomarker group CTD_human Hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes. 1905639 1991