PEX14, peroxisomal biogenesis factor 14, 5195

N. diseases: 133; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		0.300 Biomarker disease CTD_human Identification of a novel PEX14 mutation in Zellweger syndrome. 18285423 2008
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		0.300 Biomarker disease CTD_human Identification of a novel PEX14 mutation in Zellweger syndrome. 18285423 2008
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		0.300 Biomarker disease CTD_human Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. 15146459 2004
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		0.300 Biomarker disease CTD_human Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. 15146459 2004
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		0.300 GermlineCausalMutation disease ORPHANET
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.120 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.120 GeneticVariation disease BEFREE Using the chi-squared (χ<sup>2</sup>) test and genetic model analysis, we found an association with BC for four SNPs (rs616488 (1p36.22/PEX14), rs6678914 (1q32.1/LGR6), rs17530068 (6q14/unknown) and rs6001930 (22q13.1/MKL1)) at a 5% level. 27604554 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.120 GeneticVariation disease GWASCAT Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. 27117709 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.120 GeneticVariation disease BEFREE Using the chi-squared (χ<sup>2</sup>) test and genetic model analysis, we found an association with BC for four SNPs (rs616488 (1p36.22/PEX14), rs6678914 (1q32.1/LGR6), rs17530068 (6q14/unknown) and rs6001930 (22q13.1/MKL1)) at a 5% level. 27604554 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.120 GeneticVariation disease GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.120 GeneticVariation disease BEFREE Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT-rs10069690, ESR1, TOX3, 19p13.1, RALY), and we identified associations with TN breast cancer for 15 additional breast cancer loci (P < 0.05: PEX14, 2q24.1, 2q31.1, ADAM29, EBF1, TCF7L2, 11q13.1, 11q24.3, 12p13.1, PTHLH, NTN4, 12q24, BRCA2, RAD51L1-rs2588809, MKL1). 24325915 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.120 GeneticVariation disease BEFREE Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT-rs10069690, ESR1, TOX3, 19p13.1, RALY), and we identified associations with TN breast cancer for 15 additional breast cancer loci (P < 0.05: PEX14, 2q24.1, 2q31.1, ADAM29, EBF1, TCF7L2, 11q13.1, 11q24.3, 12p13.1, PTHLH, NTN4, 12q24, BRCA2, RAD51L1-rs2588809, MKL1). 24325915 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.120 GeneticVariation disease GWASDB Genome-wide association studies identify four ER negative-specific breast cancer risk loci. 23535733 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.120 GeneticVariation disease GWASDB Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.120 GeneticVariation disease GWASCAT Genome-wide association studies identify four ER negative-specific breast cancer risk loci. 23535733 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.120 GeneticVariation disease GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		0.100 GeneticVariation phenotype GWASCAT Eleven loci with new reproducible genetic associations with allergic disease risk. 29679657 2019
CUI: C0018498
Disease: Hair Color
Hair Color 		0.100 GeneticVariation phenotype GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.100 GeneticVariation disease GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 GeneticVariation disease GWASCAT Genetic prediction of male pattern baldness. 28196072 2017