Disease Term Disease ID Gene Symbol Classification References Source
Medium chain acyl-CoA dehydrogenase deficiency 42 ACADM Causal Pathogenic evidence from ClinVar - ClinVar
Medium-chain acyl-coenzyme A dehydrogenase deficiency C0220710 ACADM Causal Pathogenic evidence from ClinVar 1356169, 1363805, 1671131, 1684086, 1729890, 1902818, 1972503, 2251268, 2393404, 2394825, 3968063, 6434827, 6857268, 7603790, 7652482, 7730333, 7904584, 7929823, 8102510, 8104486, 8198141, 8535441, 9158144, 9797589, 9882619, 10767181, 11349232, 11409868, 11486912, 11673361, 15171998, 15479234, 15832312, 15915086, 16121256, 16291504, 16737882, 16763904, 17273963, 18075239, 18188679, 18241067, 18450854, 18767270, 19064330, 19156839, 19224950, 19649258, 19780764, 20036593, 20333879, 20434380, 20437613, 20567907, 21083904, 21228398, 21239873, 21483992, 21704015, 22166308, 22542437, 22630369, 22683754, 22796001, 22848008, 22975760, 23028790, 23095120, 23430840, 23509891, 23574375, 23700290, 23798014, 23810226, 23829193, 23842438, 24082139, 24294134, 24623196, 24718418, 24799540, 24816252, 24966162, 24998633, 25087612, 25333063, 25503862, 25763512, 25940036, 26215884, 26223887, 26947917, 27308838, 27477829, 27751224, 27856190, 27943070, 28581210, 29519241 ClinVar