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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.100 Biomarker phenotype HPO
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		0.100 Biomarker disease HPO
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		0.100 Biomarker disease HPO
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		0.100 Biomarker phenotype HPO
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		0.100 Biomarker phenotype HPO
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 Biomarker phenotype HPO
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		0.100 Biomarker phenotype HPO
CUI: C4021805
Disease: Abnormality of the nasal bridge
Abnormality of the nasal bridge 		0.100 Biomarker disease HPO
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.100 Biomarker disease HPO
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		0.100 Biomarker phenotype HPO
CUI: C0001403
Disease: Addison Disease
Addison Disease 		0.100 Biomarker disease HPO
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		0.300 GermlineCausalMutation disease ORPHANET
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. 23817569 2013
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		0.100 GeneticVariation phenotype GWASDB A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. 23817569 2013
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: C0002170
Disease: Alopecia
Alopecia 		0.100 GeneticVariation disease GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
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