Disease Term Disease ID Gene Symbol Classification References Source
VATER/VACTERL ASSOCIATION C4225671 FOXF1 Causal Pathogenic evidence from ClinVar 2629409 ClinVar
HOXD13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12649808 -
TRAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24152966 -
VACTERL Association With Hydrocephalus C1848599 FANCB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15502827, 21910217, 26683739 -
PTEN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 4635800, 11748304, 17286265, 17526800, 22628360, 24778394, 25669429, 28475857 -
ZIC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2629409 -
VACTERL with hydrocephalus 3412 FANCB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
VACTERL Association C1735591 HOXD13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19006232 -
VACTERL/VATER association 887 HOXD13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
VATER Association C0220708 HOXD13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19006232 -
PCSK5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18519639 -