POLR1A, RNA polymerase I subunit A, 25885

N. diseases: 41; N. variants: 4
Disease: Acrofacial Dysostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1332140
Disease: Acrofacial Dysostosis
Acrofacial Dysostosis 		0.300 Biomarker disease GENOMICS_ENGLAND Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. 25434003 2014