ALAD, aminolevulinate dehydratase, 210

N. diseases: 135; N. variants: 8
Disease: Porphobilinogen synthase deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912981
rs121912981
Entrez Id: 210
Gene Symbol: ALAD
ALAD
CUI: C0268328
Disease:
Porphobilinogen synthase deficiency 		0.810 GeneticVariation 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
dbSNP: rs121912981
rs121912981
Entrez Id: 210
Gene Symbol: ALAD
ALAD
CUI: C0268328
Disease:
Porphobilinogen synthase deficiency 		0.810 GeneticVariation UNIPROT
dbSNP: rs121912981
rs121912981
Entrez Id: 210
Gene Symbol: ALAD
ALAD
CUI: C0268328
Disease:
Porphobilinogen synthase deficiency 		T 0.810 CausalMutation CLINVAR