Fg syndrome

Disease Term Disease ID Gene Symbol Classification References Source
FG syndrome C0220769 CASK Causal Pathogenic evidence from ClinVar - ClinVar
MED12 Causal Pathogenic evidence from ClinVar 6711603, 12784307, 17334363, 18691967, 19938245, 20981778 ClinVar
FLNA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17632775 -
FG SYNDROME 2 C1845902 CASK Causal Pathogenic evidence from ClinVar - ClinVar
MED12 Causal Pathogenic evidence from ClinVar 17334363 ClinVar
FLNA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14988809, 17632775 -
FG SYNDROME 4 (disorder) C1845546 CASK Causal Pathogenic evidence from ClinVar 19165920, 19200522, 22452838, 28783747 ClinVar
MED12 Causal Pathogenic evidence from ClinVar 17334363 ClinVar
FLNA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17632775 -
FG syndrome type 1 93932 MED12 Causal Pathogenic evidence from ClinVar - ClinVar