Disease Term Disease ID Gene Symbol Classification References Source
X-linked hydrocephalus syndrome C0265216 L1CAM Causal Pathogenic evidence from ClinVar 3460961, 7562969, 7762552, 7881431, 7920659, 7920660, 8401576, 8556302, 8929944, 9118141, 9195224, 9268105, 9279760, 9521424, 9744477, 9832035, 10797421, 11438988, 11857550, 12435569, 12514225, 15368500, 19846429, 20621658, 22344793, 22973895, 24155914 ClinVar