POLR1A, RNA polymerase I subunit A, 25885

N. diseases: 41; N. variants: 4
Disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225317
Disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE 		0.710 GeneticVariation disease UNIPROT Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. 25913037 2015
CUI: C4225317
Disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE 		0.710 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
CUI: C4225317
Disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE 		0.710 Biomarker disease CTD_human
CUI: C4225317
Disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE 		0.710 Biomarker disease BEFREE Altogether, these data reveal specific functions for both Tp53-dependent and independent signaling downstream of polr1a in ribosome biogenesis during neural crest cell and craniofacial development, in the pathogenesis of Acrofacial Dysostosis-Cincinnati type. 29750247 2018
CUI: C4225317
Disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE 		0.710 Biomarker disease GENOMICS_ENGLAND Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. 25913037 2015
CUI: C4225317
Disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE 		0.710 Biomarker disease GENOMICS_ENGLAND Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. 25913037 2015
CUI: C4225317
Disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE 		0.710 CausalMutation disease CLINVAR