rs104894179, PHYH

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Refsum Disease
CUI: C0034960
Disease: Refsum Disease
0.800 GeneticVariation UNIPROT Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). 14974078 2004
Refsum Disease
CUI: C0034960
Disease: Refsum Disease
0.800 GeneticVariation UNIPROT Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. 10767344 2000
Refsum Disease
CUI: C0034960
Disease: Refsum Disease
0.800 GeneticVariation UNIPROT Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. 10709665 1999
Refsum Disease
CUI: C0034960
Disease: Refsum Disease
0.800 GeneticVariation UNIPROT Identification of PAHX, a Refsum disease gene. 9326939 1997
Refsum Disease
CUI: C0034960
Disease: Refsum Disease
0.800 GeneticVariation UNIPROT Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. 9326940 1997
Refsum Disease
CUI: C0034960
Disease: Refsum Disease
0.800 CausalMutation CLINVAR