PEX1, peroxisomal biogenesis factor 1, 5189

N. diseases: 235; N. variants: 104
Disease: Intellectual Disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Nonetheless, affected children with the PEX1-G843D allele have intellectual disability, failure to thrive, and significant sensory deficits. 24503136 2014