Refsum disease

Disease Term Disease ID Gene Symbol Classification References Source
Refsum disease 773 PHYH Causal Pathogenic evidence from ClinVar - ClinVar
PEX7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Refsum Disease C0034960 PHYH Causal Pathogenic evidence from ClinVar 9326939, 9326940, 10709665, 10767344, 11555634, 12522768, 14974078, 18612766, 27604308 ClinVar
PEX7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12325024, 12522768 -
Refsum Disease, Adult, 1 C2749345 PHYH Causal Pathogenic evidence from ClinVar - ClinVar
Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency C1720802 PHYH Causal Pathogenic evidence from ClinVar 12522768 ClinVar
PEX7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12522768 -
Infantile Refsum disease 772 PEX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PEX10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PEX11B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PEX12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PEX13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PEX14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PEX16 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PEX19 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PEX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PEX26 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PEX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PEX5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PEX6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Refsum Disease, Adult, 2 C2749346 PEX7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9090381, 9090382, 9090383, 10083738, 11756410, 11781871, 12325024, 12522768, 21990100, 22008564, 23572185, 24357685, 25800479, 27604308 -