Aicardi goutieres syndrome

Disease Term Disease ID Gene Symbol Classification References Source
ADAR-RELATED TYPE 1 INTERFERONOPATHY
MONDO:0700261
ADAR Causal
23001123 24262145 26275108 29022589 29221912 34772697
GWAS catalog
AICARDI-GOUTIERES SYNDROME
MONDO:0018866
ADAR Unknown
20301648 23001123
GWAS catalog
IFIH1 Unknown
24686847 24995871
Disgenet
RNASEH2A Unknown
20301648
GWAS catalog
RNASEH2B Unknown
20301648
Disgenet
RNASEH2C Unknown
20301648
GWAS catalog
SAMHD1 Unknown
20301648 20842748 19525956
Disgenet
TREX1 Unknown
20301648 16845398 17357087 20799324
GWAS catalog
AICARDI-GOUTIERES SYNDROME 1
MONDO:0009165
TREX1 Causal
16845398 17357087
GWAS catalog
AICARDI-GOUTIERES SYNDROME 2
MONDO:0012429
RNASEH2B Causal
16845400
Disgenet
AICARDI-GOUTIERES SYNDROME 3
MONDO:0012471
RNASEH2C Causal
16845400
GWAS catalog
AICARDI-GOUTIERES SYNDROME 4
MONDO:0012472
RNASEH2A Causal
15870678
GWAS catalog
AICARDI-GOUTIERES SYNDROME 5
MONDO:0013059
SAMHD1 Causal — GenCC
AICARDI-GOUTIERES SYNDROME 6
MONDO:0014007
ADAR Causal
23001123 24262145 28139822 29221912
CTD
AICARDI-GOUTIERES SYNDROME 7
MONDO:0014367
IFIH1 Causal
16625202 24686847 24995871 30219631
Disgenet
AICARDI-GOUTIERES SYNDROME 8
MONDO:0030361
LSM11 Causal
33230297
GWAS catalog