Klippel feil syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Klippel Feil syndrome recessive type C1859209 MEOX1 Causal Pathogenic evidence from ClinVar 24073994 ClinVar
RIPPLY2 Causal Pathogenic evidence from ClinVar 25343988, 26238661 ClinVar
Klippel-Feil Syndrome C0022738 MEOX1 Causal Pathogenic evidence from ClinVar 23290072 ClinVar
MYO18B Causal Pathogenic evidence from ClinVar - ClinVar
DKK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GDF3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19864492 -
GDF6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18425797 -
KMT2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYH3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TBX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT C1861689 MEOX1 Causal Pathogenic evidence from ClinVar - ClinVar
GDF6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3065353, 17236135, 18425797, 19129173, 23307924 -
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT C3150967 GDF3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19864492 -