PEX12, peroxisomal biogenesis factor 12, 5193

N. diseases: 126; N. variants: 41
Disease: Peroxisome biogenesis disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752107
rs61752107
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		AAGGC 0.700 CausalMutation CLINVAR Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach. 29389947 2018
dbSNP: rs61752107
rs61752107
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		AAGGC 0.700 CausalMutation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
dbSNP: rs61752107
rs61752107
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		AAGGC 0.700 CausalMutation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
dbSNP: rs61752107
rs61752107
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		AAGGC 0.700 CausalMutation CLINVAR Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders. 9792857 1998