PEX1, peroxisomal biogenesis factor 1, 5189

N. diseases: 209; N. variants: 100
Disease: HEIMLER SYNDROME 1 ×
Source: INFERRED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation disease CLINVAR Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. 28468868 2017
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation disease CLINVAR Low bone mineral density is a common feature of Zellweger spectrum disorders. 26643206 2016
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation disease CLINVAR Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843 2016
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation disease CLINVAR Friedreich Ataxia in Classical Galactosaemia. 26219880 2016
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation disease CLINVAR Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. 27090541 2016
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation disease CLINVAR Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations. 27882258 2016
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation disease CLINVAR Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. 27872819 2016
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation disease CLINVAR Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 26287655 2016
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation disease 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
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation disease CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation disease CLINVAR Germinal matrix hemorrhage in Zellweger syndrome. 20952722 2010
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 GeneticVariation disease CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation disease CLINVAR Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms. 16088892 2005
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 GeneticVariation disease CLINVAR Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 12402331 2002
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation disease CLINVAR Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 12402331 2002
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation disease CLINVAR Identification of a common PEX1 mutation in Zellweger syndrome. 10447258 1999
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		0.600 CausalMutation disease CLINVAR Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847 1997