Disease Term Disease ID Gene Symbol Classification References Source
Lymphangioleiomyomatosis 538, C0751674 TSC1 Causal Pathogenic evidence from ClinVar 10069705, 12112044, 17541983 ClinVar
TSC2 Causal Pathogenic evidence from ClinVar 10069705, 10823953, 11829138, 17541983, 24896178 ClinVar
HES1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20038814 -
JAG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20038814 -
VEGFD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20038814 -