Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
0.750 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
0.750 CausalMutation disease CLINVAR
Entrez Id: 6591
Gene Symbol: SNAI2
SNAI2
0.300 Biomarker disease CLINGEN SLUG (SNAI2) deletions in patients with Waardenburg disease. 12444107 2002
Entrez Id: 121536
Gene Symbol: AEBP2
AEBP2
0.200 Biomarker disease MGD
Entrez Id: 10671
Gene Symbol: DCTN6
DCTN6
0.010 Biomarker disease BEFREE Klein-Waardenburg syndrome or Waardenburg syndrome type 3 (WS-III; MIM 148820) is characterized by the presence of musculoskeletal abnormalities in association with clinical features of Waardenburg syndrome type 1 (WS-I). 11683776 2001