Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750427
rs61750427
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C4551980
Disease:
HEIMLER SYNDROME 1 		0.800 GeneticVariation UNIPROT Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843 2016
dbSNP: rs61750427
rs61750427
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C4551980
Disease:
HEIMLER SYNDROME 1 		G 0.800 CausalMutation CLINVAR Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843 2016
dbSNP: rs61750427
rs61750427
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C4551980
Disease:
HEIMLER SYNDROME 1 		0.800 GeneticVariation UNIPROT Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
dbSNP: rs387907188
rs387907188
Entrez Id: 57798
Gene Symbol: GATAD1
GATAD1
CUI: C3553409
Disease:
CARDIOMYOPATHY, DILATED, 2B 		0.800 GeneticVariation UNIPROT Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. 21965549 2011
dbSNP: rs61750427
rs61750427
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C0282527
Disease:
Infantile Refsum Disease (disorder) 		0.800 GeneticVariation UNIPROT Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms. 16088892 2005
dbSNP: rs61750427
rs61750427
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C4551980
Disease:
HEIMLER SYNDROME 1 		G 0.800 CausalMutation CLINVAR Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms. 16088892 2005
dbSNP: rs61750427
rs61750427
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C0282527
Disease:
Infantile Refsum Disease (disorder) 		0.800 GeneticVariation UNIPROT Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. 11439091 2001
dbSNP: rs61750427
rs61750427
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C0282527
Disease:
Infantile Refsum Disease (disorder) 		0.800 GeneticVariation UNIPROT Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. 9539740 1998
dbSNP: rs61750427
rs61750427
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C0282527
Disease:
Infantile Refsum Disease (disorder) 		0.800 GeneticVariation UNIPROT Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847 1997
dbSNP: rs387907188
rs387907188
Entrez Id: 57798
Gene Symbol: GATAD1
GATAD1
CUI: C3553409
Disease:
CARDIOMYOPATHY, DILATED, 2B 		C 0.800 CausalMutation CLINVAR
dbSNP: rs61750427
rs61750427
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C0282527
Disease:
Infantile Refsum Disease (disorder) 		G 0.800 GeneticVariation CLINVAR
dbSNP: rs150596337
rs150596337
Entrez Id: 30816;57798
Gene Symbol: ERVW-1;GATAD1
ERVW-1;GATAD1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs147403447
rs147403447
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C0005890
Disease:
Body Height 		CT 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs1057517518
rs1057517518
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C0282527
Disease:
Infantile Refsum Disease (disorder) 		T 0.700 GeneticVariation CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947 2016
dbSNP: rs1057517518
rs1057517518
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947 2016
dbSNP: rs13229255
rs13229255
Entrez Id: 30816;57798
Gene Symbol: ERVW-1;GATAD1
ERVW-1;GATAD1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs61750428
rs61750428
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C4551980
Disease:
HEIMLER SYNDROME 1 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs61750428
rs61750428
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs61750428
rs61750428
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C0282527
Disease:
Infantile Refsum Disease (disorder) 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs61750428
rs61750428
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs267608179
rs267608179
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs267608179
rs267608179
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61750426
rs61750426
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		C 0.700 GeneticVariation CLINVAR Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. 21846392 2011
dbSNP: rs61750426
rs61750426
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		C 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61750426
rs61750426
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		C 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011