Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.700 CausalMutation CLINVAR Low bone mineral density is a common feature of Zellweger spectrum disorders. 26643206

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.700 CausalMutation CLINVAR Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. 21846392

2011
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.700 GeneticVariation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282

2010
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.700 GeneticVariation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.700 CausalMutation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.700 CausalMutation CLINVAR PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. 12032265

2002
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.700 CausalMutation CLINVAR Identification of a common PEX1 mutation in Zellweger syndrome. 10447258

1999
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.700 CausalMutation CLINVAR These data demonstrate an important role for PEX1 in peroxisome biogenesis and suggest that mutations in this gene are the most common cause of the PBDs. 9398847

1997