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: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation CLINVAR Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. 28468868

2017
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation CLINVAR Low bone mineral density is a common feature of Zellweger spectrum disorders. 26643206

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation CLINVAR Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation CLINVAR Friedreich Ataxia in Classical Galactosaemia. 26219880

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation CLINVAR Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. 27090541

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation CLINVAR Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations. 27882258

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation CLINVAR Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. 27872819

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation CLINVAR Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 26287655

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 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: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation CLINVAR Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 25412400

2015
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595

2015
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation CLINVAR Germinal matrix hemorrhage in Zellweger syndrome. 20952722

2010
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 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: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation CLINVAR Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms. 16088892

2005
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 GeneticVariation CLINVAR Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 12402331

2002
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation CLINVAR Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 12402331

2002
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation CLINVAR Identification of a common PEX1 mutation in Zellweger syndrome. 10447258

1999
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation CLINVAR Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847

1997