Smith-lemli-opitz syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Smith-Lemli-Opitz syndrome 818 DHCR7 Causal Pathogenic evidence from ClinVar - ClinVar
Smith-Lemli-Opitz Syndrome C0175694 DHCR7 Causal Pathogenic evidence from ClinVar 3812577, 9634533, 9653161, 9678700, 9683613, 10215064, 10405455, 10602371, 10677299, 10710236, 10807690, 10814720, 10896306, 10905895, 10995508, 11078571, 11111101, 11161831, 11175299, 11230174, 11241839, 11254748, 11427181, 11453964, 11560960, 11745994, 11767235, 12070263, 12270273, 12818773, 12906934, 12914579, 12949967, 14556255, 14659996, 14981719, 15013448, 15464432, 15521979, 15670717, 15776424, 15805162, 15862627, 15877207, 15896653, 15952211, 15954111, 15979035, 16044199, 16181459, 16207203, 16392899, 16446309, 16497572, 16814115, 16983147, 17237122, 17441222, 17497248, 17965227, 17994283, 18006960, 18076100, 18249054, 19365639, 19390132, 20014133, 20052364, 20104611, 20556518, 20635399, 20694756, 21696385, 21706511, 21777499, 21990131, 22211794, 22226660, 22382802, 22391996, 22438180, 22929031, 22975760, 23042628, 23293579, 23918729, 24500076, 24824134, 25040602, 25637936, 26969503, 27097157, 27401223, 27513191, 28166604, 28349652, 28503313, 29698737 ClinVar
Smith-Lemli-Opitz Syndrome, Type I C0282643 DHCR7 Causal Pathogenic evidence from ClinVar 11254748, 12818773, 12906934, 14659996, 15896653, 16446309, 16814115, 17994283, 19365639, 27097157, 29698737 ClinVar
Smith-Lemli-Opitz Syndrome, Type II C0282644 DHCR7 Causal Pathogenic evidence from ClinVar 11254748, 12818773, 12906934, 14659996, 15896653, 16446309, 16814115, 17994283, 19365639, 27097157, 29698737 ClinVar