Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748608
Disease: LEAD POISONING, SUSCEPTIBILITY TO
LEAD POISONING, SUSCEPTIBILITY TO
0.300 GermlineCausalMutation phenotype ORPHANET delta-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations. 16343966 2006
CUI: C2748608
Disease: LEAD POISONING, SUSCEPTIBILITY TO
LEAD POISONING, SUSCEPTIBILITY TO
0.300 GermlineCausalMutation phenotype ORPHANET delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. 2063868 1991