POLR1D, RNA polymerase I and III subunit D, 51082

N. diseases: 84; N. variants: 18
Disease: TREACHER COLLINS SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2 		0.700 GeneticVariation disease UNIPROT Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 21131976 2011
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 21131976 2011
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2 		0.700 Biomarker disease GENOMICS_ENGLAND Mouse RNA polymerase I 16-kDa subunit able to associate with 40-kDa subunit is a homolog of yeast AC19 subunit of RNA polymerases I and III. 8955128 1996
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2 		0.700 CausalMutation disease CLINVAR
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2 		0.700 Biomarker disease CTD_human
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2 		0.700 Biomarker disease GENOMICS_ENGLAND