Macrocephaly autism syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MACROCEPHALY/AUTISM SYNDROME | C1854416 | PTEN | Causal Pathogenic evidence from ClinVar | 4635800, 9399897, 9832032, 10749983, 15805158, 17286265, 17526800, 19265751, 21659347, 21956414, 22252256, 22595938, 22628360, 23160955, 23470840, 23475934, 23695273, 24778394, 25525159, 25669429, 26633545, 26637798, 28086757, 28475857 | ClinVar |
| HEPACAM | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 21419380 | - |