Gene: PEX7 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		0.350 GeneticVariation group BEFREE Additionally, PTC124 did not show measurable nonsense suppression in immunoblot assays that directly evaluated the read-through of PEX7 nonsense alleles found in PBD patients with rhizomelic chondrodysplasia punctata type 1 (RCDP1). 21465523 2011
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		0.350 Biomarker group BEFREE In contrast, PBD-RCDP is associated with defects in the PEX7 gene alone. 17055079 2006
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		0.350 GeneticVariation group BEFREE Mutations in PEX7 cause rhizomelic chondrodysplasia punctata (RCDP), a distinct peroxisome biogenesis disorder. 12325024 2002
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		0.350 GeneticVariation group BEFREE PEX7 mutations cause the peroxisome biogenesis disorder (PBD) rhizomelic chondrodysplasia punctata (RCDP). 10673331 2000
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		0.350 Biomarker group BEFREE We conclude that PEX7 is responsible for RCDP (PBD CG11) and suggest a founder effect may explain the high frequency of L292ter. 9090381 1997
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		0.350 Biomarker group GENOMICS_ENGLAND