PADI3, peptidyl arginine deiminase 3, 51702

N. diseases: 21; N. variants: 12
Disease: Uncombable hair syndrome ×
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