Disease Term Disease ID Gene Symbol References
Action Myoclonus-Renal Failure Syndrome C0751779, 163696 SCARB2 19847901, 18424452, 22032306, 21670406, 19454373, 18308289, 22767442, 23225201, 21796727, 19597094, 23659519, 24485911, 23325613, 24620919, 24339182, 29605618
CHD2
ATN1
KCNC1 25401298
NEU1 25401298
SERPINI1 25401298
PRNP 25401298
TSC1 17484760
EPM2A 25401298
GOSR2
CERS1
AFG3L2 25401298
SACS 25401298
CLN6 25401298
PRDM8
TBC1D24 25401298
LMNB2
NHLRC1 25401298