Aicardi goutieres syndrome

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