PADI3, peptidyl arginine deiminase 3, 51702

N. diseases: 21; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432347
Disease: Uncombable hair syndrome
Uncombable hair syndrome 		0.510 GermlineCausalMutation disease ORPHANET Here, we report the identification of UHS-causative mutations located in the three genes PADI3 (peptidylarginine deiminase 3), TGM3 (transglutaminase 3), and TCHH (trichohyalin) in a total of 11 children. 27866708 2016
CUI: C0432347
Disease: Uncombable hair syndrome
Uncombable hair syndrome 		0.510 GeneticVariation disease BEFREE Here, we report the identification of UHS-causative mutations located in the three genes PADI3 (peptidylarginine deiminase 3), TGM3 (transglutaminase 3), and TCHH (trichohyalin) in a total of 11 children. 27866708 2016
CUI: C0432347
Disease: Uncombable hair syndrome
Uncombable hair syndrome 		0.510 Biomarker disease CTD_human
CUI: C4551573
Disease: UNCOMBABLE HAIR SYNDROME 1
UNCOMBABLE HAIR SYNDROME 1 		0.400 GeneticVariation disease UNIPROT Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. 27866708 2016
CUI: C4551573
Disease: UNCOMBABLE HAIR SYNDROME 1
UNCOMBABLE HAIR SYNDROME 1 		0.400 CausalMutation disease CLINVAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C1274708
Disease: Central centrifugal cicatricial alopecia
Central centrifugal cicatricial alopecia 		0.110 Biomarker disease BEFREE Mutations in <i>PADI3</i>, which encodes a protein that is essential to proper hair-shaft formation, were associated with CCCA. 30763140 2019
CUI: C1274708
Disease: Central centrifugal cicatricial alopecia
Central centrifugal cicatricial alopecia 		0.110 CausalMutation disease CLINVAR Variant PADI3 in Central Centrifugal Cicatricial Alopecia. 30763140 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: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation phenotype GWASCAT Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291 2012
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation phenotype GWASDB Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291 2012
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.100 GeneticVariation phenotype GWASCAT Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291 2012
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		0.100 Biomarker disease HPO
CUI: C0239804
Disease: White hair
White hair 		0.100 Biomarker phenotype HPO
CUI: C0277959
Disease: Coarse hair
Coarse hair 		0.100 Biomarker phenotype HPO
CUI: C0277960
Disease: Dry hair
Dry hair 		0.100 Biomarker phenotype HPO
CUI: C0343073
Disease: Wooly hair
Wooly hair 		0.100 Biomarker phenotype HPO
CUI: C1860607
Disease: Uncombable hair
Uncombable hair 		0.100 Biomarker phenotype HPO
CUI: C1860608
Disease: Pili canaliculi
Pili canaliculi 		0.100 Biomarker phenotype HPO
CUI: C4025700
Disease: Trichodysplasia
Trichodysplasia 		0.100 Biomarker disease HPO
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.030 GeneticVariation disease BEFREE Among RA patients, anti-PAD2 antibodies were not associated with traditional genetic or serologic RA risk factors, including HLA-DRβ1 shared epitope alleles, ACPA, rheumatoid factor (RF), or anti-PAD3/4 antibodies. 30515171 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.030 AlteredExpression disease BEFREE Even though fibroblast-type synoviocytes in RA are not the main source of PADs in the synovial tissue, they express PADI2 mRNA moderately, PADI4 mRNA weakly, while there is no detectable expression of PADI3 mRNA. 26255191 2016
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.030 AlteredExpression disease BEFREE Peptidyl arginine deiminase type 2 (PAD-2) and PAD-4 but not PAD-1, PAD-3, and PAD-6 are expressed in rheumatoid arthritis synovium in close association with tissue inflammation. 17968929 2007
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 Biomarker phenotype BEFREE However, the regulatory mechanism of PADI3 and CKS1 in the tumorigenesis of colon cancer is still unclear and need to do further research. 31708688 2019
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.020 Biomarker group BEFREE A subgroup of such antibodies, initially identified by cross-reactivity with peptidylarginine deiminase type 3 (PAD3), is strongly associated with progression of radiographic joint damage and interstitial lung disease and has the unique ability to activate PAD4. 29070531 2018