Disease Term Disease ID Gene Symbol Classification References Source
CULLER-JONES SYNDROME C4014479 GLI2 Causal Pathogenic evidence from ClinVar 14581620, 15994174, 20685856, 23408573, 24744436, 25878059, 28973407 ClinVar
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 420584 GLI2 Causal Pathogenic evidence from ClinVar - ClinVar