Disease Term Disease ID Gene Symbol References
AICARDI-GOUTIERES SYNDROME C0393591, 51 ADAR 23001123, 24262145
RNASEH2A 23592335, 17846997, 20131292, 21454563, 25604658
USP18
TREX1 17357087, 17660818, 20799324, 16845398
SAMHD1 19525956, 23364794, 20653736, 21204240, 20842748, 22461318, 30275001, 25604658, 28229507, 25655951, 27604406
HOOK2 21454563, 17846997, 23592335, 20131292
IFIH1 25604658, 24686847, 24995871
RNASEH2B 19034401, 17846997, 25274781, 26182405, 20131292, 25604658, 25243380, 25343331, 16845400, 26846091, 26903602
RNASEH2C 25604658
AICARDI-GOUTIERES SYNDROME 1 C0796126 ADAR 23001123
USP18
TREX1 16845398, 25582466, 28750028, 26633545, 24300241, 27411419, 17846997, 26182405, 26938784, 24183309, 18583934, 25848017, 26691497, 20131292, 18045533, 17660820, 24357685, 20871604, 22829693, 27391121, 23602593, 17357087, 25138095, 17440703, 23989343, 25604658, 23881107, 17660818, 23979357, 28089741, 21937424, 21270825, 17293595, 18805785, 20799324
SAMHD1 23364794
IFIH1 24686847
RNASEH2B
ATRIP 24300241, 26938784, 18805785, 25848017, 17846997, 20871604, 27391121, 17293595, 21270825, 23602593, 25582466, 26182405, 16845398, 24183309, 26691497, 23881107, 17440703, 17660820, 23989343, 25604658, 28750028, 26633545, 28089741, 20131292, 21937424, 20799324, 22829693, 25138095
AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT C3150315 TREX1
ATRIP
Aicardi-Goutieres Syndrome 2 C3489724 ADAR 23001123
USP18
TREX1 16845398
SAMHD1 23364794
IFIH1 24686847
RNASEH2B 17846997, 20131292, 19694776, 25343331, 29239743, 18754903, 19034401, 24357685, 28762473, 16845400, 26846091, 19015152, 26182405, 25243380, 25274781, 21177858, 25604658
AICARDI-GOUTIERES SYNDROME 3 C1835916 RNASEH2C 27411419, 20131292, 17846997, 16845400, 25604658, 23322642, 29150899, 24357685
AICARDI-GOUTIERES SYNDROME 4 C1835912 RNASEH2A 24357685, 16845400, 25604658, 20131292, 21454563, 24183309, 15870678, 17846997
HOOK2 24183309
AICARDI-GOUTIERES SYNDROME 5 (disorder) C2749659 SAMHD1 19525956, 20842748, 25604658, 22461318, 20653736, 20358604, 21102625, 27604406, 28229507, 20131292, 24357685, 21204240, 30275001, 24183309, 22174685, 22973040, 24035396, 29670289
AICARDI-GOUTIERES SYNDROME 6 C3539013 ADAR 23001123, 28139822, 15955093, 25243380, 15724015, 24011626, 15146470, 24357685, 24262145, 25604658
AICARDI-GOUTIERES SYNDROME 7 C3888244 IFIH1 25620204, 28319323, 25604658, 24995871, 25542954, 24686847, 29270977, 30965144