Ornithine carbamoyltransferase deficiency

Disease Term Disease ID Gene Symbol Classification References Source
Ornithine carbamoyltransferase deficiency C0268542 OTC Causal Pathogenic evidence from ClinVar 1480464, 1671317, 1721894, 2035531, 2347583, 2474822, 2556444, 2983225, 3170748, 7474905, 7702100, 7707692, 7860064, 7860066, 7951259, 8019569, 8081373, 8081398, 8099056, 8112735, 8365726, 8530002, 8566955, 8778603, 8786061, 8807340, 8829665, 8830175, 8863155, 8956038, 8956045, 9048915, 9065786, 9143919, 9175746, 9266388, 9286441, 9427144, 9452024, 9452049, 9452065, 9610619, 10070627, 10502831, 10737985, 10946359, 11102556, 11117428, 11260212, 11388595, 11768581, 11793468, 11793483, 12083811, 12536032, 16677864, 16786505, 17041896, 17334707, 18204299, 18440262, 19669271, 19893582, 21070677, 21956151, 23209112, 23769969, 23821427, 24309898, 25026867, 25433810, 25994866, 26059767, 27070778, 27604308, 28266016 ClinVar