Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1835764
Disease: Vertebral arch anomaly
Vertebral arch anomaly
0.100 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C1835764
Disease: Vertebral arch anomaly
Vertebral arch anomaly
0.100 Biomarker HPO