Fumarase deficiency

Disease Term Disease ID Gene Symbol Classification References Source
Fumarase deficiency C0342770 FH Causal Pathogenic evidence from ClinVar 2314594, 9300800, 9635293, 10896297, 11865300, 12761039, 12772087, 14632190, 15221078, 15761418, 15937070, 15987702, 16151915, 16206287, 16237213, 16288654, 16510303, 16575891, 16597677, 16876016, 17182618, 17392716, 17960613, 18313410, 19470762, 19967458, 20549362, 20618355, 21398687, 21404119, 21445611, 21520333, 21929734, 22069215, 22127509, 22243733, 22565324, 22595425, 22764886, 23612258, 24182348, 24441663, 25004247, 25292446, 25477250, 25750977, 25913776, 25923021, 26457356, 26574848, 27037871, 27604308, 28300276, 28747166, 30050099 ClinVar