RNF113A, ring finger protein 113A, 7737

N. diseases: 127; N. variants: 5
Disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225420
Disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE
TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE 		0.600 Biomarker disease GENOMICS_ENGLAND A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair. 29144457 2017
CUI: C4225420
Disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE
TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE 		0.600 Biomarker disease GENOMICS_ENGLAND C. elegans ring finger protein RNF-113 is involved in interstrand DNA crosslink repair and interacts with a RAD51C homolog. 23555887 2013
CUI: C4225420
Disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE
TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE 		0.600 CausalMutation disease CLINVAR
CUI: C4225420
Disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE
TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE 		0.600 Biomarker disease CTD_human