DHODH, dihydroorotate dehydrogenase (quinone), 1723

N. diseases: 100; N. variants: 11
Disease: Chromosome 11p deletion syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606767
rs267606767
Entrez Id: 1723
Gene Symbol: DHODH
DHODH
CUI: C0812435
Disease:
Chromosome 11p deletion syndrome 		0.010 GeneticVariation BEFREE In conclusion, the G202A and R346W mutation causes deficient protein stability, and the R135C mutation does not affect stability but impairs the substrate-induced enzymatic activity, suggesting that impairment of DHODH activity is linked to the Miller syndrome phenotype. 22967083 2012