Disease Term Disease ID Gene Symbol Classification References Source
Hydrolethalus 2189 KIF7 Causal Pathogenic evidence from ClinVar - ClinVar
HYLS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hydrolethalus syndrome C2931104 KIF7 Causal Pathogenic evidence from ClinVar 21552264 ClinVar
HYLS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2074561, 15843405, 18648327, 19400947 -
PUS3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2074561, 15843405, 18648327, 19400947 -
HYDROLETHALUS SYNDROME 1 C1856016 KIF7 Causal Pathogenic evidence from ClinVar - ClinVar
HYLS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15843405, 18648327, 26830932 -
PUS3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hydrolethalus Syndrome 2 C3279899 KIF7 Causal Pathogenic evidence from ClinVar 21552264 ClinVar