rs61753219, PEX6

N. diseases: 64
Disease: HEIMLER SYNDROME 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HEIMLER SYNDROME 2
CUI: C4225267
Disease: HEIMLER SYNDROME 2
0.800 GeneticVariation UNIPROT Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843 2016
HEIMLER SYNDROME 2
CUI: C4225267
Disease: HEIMLER SYNDROME 2
0.800 GeneticVariation UNIPROT Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
HEIMLER SYNDROME 2
CUI: C4225267
Disease: HEIMLER SYNDROME 2
0.800 GeneticVariation UNIPROT Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
HEIMLER SYNDROME 2
CUI: C4225267
Disease: HEIMLER SYNDROME 2
0.800 CausalMutation CLINVAR