PEX5, peroxisomal biogenesis factor 5, 5830

N. diseases: 174; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752138
rs61752138
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C3550234
Disease:
PEROXISOME BIOGENESIS DISORDER 2B 		0.800 GeneticVariation UNIPROT Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients. 10462504 1999
dbSNP: rs61752138
rs61752138
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C3550234
Disease:
PEROXISOME BIOGENESIS DISORDER 2B 		0.800 GeneticVariation UNIPROT Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. 7719337 1995
dbSNP: rs61752138
rs61752138
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C3550234
Disease:
PEROXISOME BIOGENESIS DISORDER 2B 		G 0.800 CausalMutation CLINVAR
dbSNP: rs796051881
rs796051881
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0282529
Disease:
Chondrodysplasia Punctata, Rhizomelic 		CA 0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
dbSNP: rs796051881
rs796051881
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0004096
Disease:
Asthma 		CA 0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
dbSNP: rs796051881
rs796051881
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0031117
Disease:
Peripheral Neuropathy 		CA 0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
dbSNP: rs796051881
rs796051881
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C4551563
Disease:
Microcephaly (physical finding) 		CA 0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
dbSNP: rs796051881
rs796051881
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0009691
Disease:
Congenital cataract 		CA 0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
dbSNP: rs796051881
rs796051881
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0456070
Disease:
Growth delay 		CA 0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
dbSNP: rs796051881
rs796051881
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0014544
Disease:
Epilepsy 		CA 0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
dbSNP: rs796051881
rs796051881
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0036857
Disease:
Severe intellectual disability 		CA 0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
dbSNP: rs1565673352
rs1565673352
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C3550234
Disease:
PEROXISOME BIOGENESIS DISORDER 2B 		T 0.700 CausalMutation CLINVAR
dbSNP: rs61752137
rs61752137
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C3550273
Disease:
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs61752138
rs61752138
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C3550273
Disease:
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs796051881
rs796051881
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C4225237
Disease:
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs267608196
rs267608196
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0282527
Disease:
Infantile Refsum Disease (disorder) 		0.010 GeneticVariation BEFREE The patients 2-01 (Zellweger syndrome) and 2-05 (neonatal adrenoleukodystrophy) have the reported mutations, R390X and N489K, and patient 2-03 (infantile Refsum disease) has a newly identified mutation, S563W. 10462504 1999
dbSNP: rs61752138
rs61752138
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0282527
Disease:
Infantile Refsum Disease (disorder) 		0.010 GeneticVariation BEFREE The patients 2-01 (Zellweger syndrome) and 2-05 (neonatal adrenoleukodystrophy) have the reported mutations, R390X and N489K, and patient 2-03 (infantile Refsum disease) has a newly identified mutation, S563W. 10462504 1999