Disease Term Disease ID Gene Symbol References
MACROCEPHALY/AUTISM SYNDROME C1854416 PTEN 17286265, 9832032, 17526800, 23475934, 15805158, 22252256, 23160955, 21659347, 26633545, 28475857, 24778394, 25525159, 9399897, 19265751, 10749983, 28086757, 21956414, 22595938, 4635800, 23695273, 22628360, 25669429, 26637798, 23470840
HEPACAM 21419380