Disease Term Disease ID Gene Symbol Classification References Source
Acrocallosal syndrome 36 KIF7 Causal Pathogenic evidence from ClinVar - ClinVar
GLI3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SUFU Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Acrocallosal Syndrome C0796147 KIF7 Causal Pathogenic evidence from ClinVar 19666503, 21552264, 21633164, 21937992, 23125460, 23142271, 26092869, 26174511, 26648833, 29321670 ClinVar
FOXG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18627055 -
GLI3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12414818, 23633388 -
SUFU Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28965847 -
TICRR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19666503, 21552264, 21633164, 26092869, 26648833 -
Acrocallosal syndrome, Schinzel type C2931760 KIF7 Causal Pathogenic evidence from ClinVar 21552264, 23142271 ClinVar
GLI3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12414818, 23633388 -
SUFU Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28965847 -