Disease Term Disease ID Gene Symbol Classification References Source
Spondylocarpotarsal synostosis 3275 FLNB Causal Pathogenic evidence from ClinVar - ClinVar
MYH3 Causal Pathogenic evidence from ClinVar - ClinVar
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME C1848934 FLNB Causal Pathogenic evidence from ClinVar 14991055, 26380986 ClinVar
MYH3 Causal Pathogenic evidence from ClinVar 27381093 ClinVar