Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25885
Gene Symbol: POLR1A
POLR1A
0.400 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
Entrez Id: 25885
Gene Symbol: POLR1A
POLR1A
0.400 Biomarker disease HPO