Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2972
Gene Symbol: BRF1
BRF1
0.710 GeneticVariation disease BEFREE The findings confirm a previous report showing that biallelic mutations in BRF1 cause cerebellar-facial-dental syndrome. 27748960 2017
Entrez Id: 2972
Gene Symbol: BRF1
BRF1
0.710 Biomarker disease GENOMICS_ENGLAND BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. 25561519 2015
Entrez Id: 2972
Gene Symbol: BRF1
BRF1
0.710 GeneticVariation disease UNIPROT BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. 25561519 2015
Entrez Id: 2972
Gene Symbol: BRF1
BRF1
0.710 GermlineCausalMutation disease ORPHANET BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. 25561519 2015
Entrez Id: 2972
Gene Symbol: BRF1
BRF1
0.710 Biomarker disease CTD_human
Entrez Id: 2972
Gene Symbol: BRF1
BRF1
0.710 CausalMutation disease CLINVAR