Megalencephaly, polymicrogyria, polydactyly, hydrocephalus syndrome

Disease Term Disease ID Gene Symbol Classification References Source
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 C4012727 AKT3 Causal Pathogenic evidence from ClinVar 22500628, 22729224 ClinVar
PIK3R2 Causal Pathogenic evidence from ClinVar 16357568, 21984976, 22729224, 23745724, 26520804, 26860062, 28425981, 28502725 ClinVar
CCND2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 C4014738 AKT3 Causal Pathogenic evidence from ClinVar 22500628, 22729223, 22729224, 23745724, 24705253 ClinVar
Medullary carcinoma of thyroid C0238462 FLCN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KRAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NTRK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RET Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7915165, 8570194, 9012462, 9242375, 9839497, 10445857, 10490816, 11351254, 15184865, 15277225, 15753368, 17108110, 18073307, 20943719, 21422803, 23056499, 25157968 -
Medullary carcinoma C0206693 HPGD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11352223 -
RET Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7915165 -