WDR43, WD repeat domain 43, 23160

N. diseases: 3; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation disease GWASCAT Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. 27117709 2016
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 Biomarker disease BEFREE Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. 27117709 2016
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		0.010 Biomarker disease BEFREE Together, our findings provide new insight into roles for Wdr43 in development, ribosome biogenesis, and also ribosomopathy-induced craniofacial phenotypes including Treacher-Collins Syndrome. 24497835 2014