Aicardi goutieres syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
ADAR-RELATED TYPE 1 INTERFERONOPATHY
MONDO:0700261
ADAR Causal
23001123 24262145 26275108 29022589 29221912 34772697
GWAS catalog, ClinGen
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
All8 Causal8 Unknown7
Related Diseases Diseases that share the most curated genes with Aicardi goutieres syndrome.
5 View disease cluster →
Interferonopathy 4 shared genesRNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 Related via 4 shared genes including RNASEH2A, RNASEH2B, RNASEH2C. Chilblain lupus 2 shared genesSAMHD1, TREX1 Related via 2 shared genes including SAMHD1, TREX1. Chilblain lupus erythematosus 2 shared genesSAMHD1, TREX1 Related via 2 shared genes including SAMHD1, TREX1. IFIH1-related type 1 interferonopathy 1 shared geneIFIH1 Related via 1 shared gene including IFIH1. Type i interferonopathy 1 shared geneTREX1 Related via 1 shared gene including TREX1.