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AGS3
MCID: ACR088
MIFTS: 39

Aicardi-Goutieres Syndrome 3 (AGS3)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Aicardi-Goutieres Syndrome 3

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MalaCards integrated aliases for Aicardi-Goutieres Syndrome 3:

Name: Aicardi-Goutieres Syndrome 3 57 73 13 71
Aicardi Goutieres Syndrome 3 29 6
Pseudo-Torch Syndrome 73 71
Ags3 57 73
Aicardi-Goutieres Syndrome, Type 3 39
Aicardi-Goutieres Syndrome 1 71
Cree Encephalitis 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early infancy
one patient with normal psychomotor development has been reported


HPO:

31
aicardi-goutieres syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive death in childhood


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Blood diseases Immune diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 610329
OMIM Phenotypic Series 57 PS225750
MedGen 41 C1835916
UMLS 71 C0796126 C1835916 C3489725
Sources

Summaries for Aicardi-Goutieres Syndrome 3

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OMIM® : 57 Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750). (610329) (Updated 05-Mar-2021)

MalaCards based summary : Aicardi-Goutieres Syndrome 3, also known as aicardi goutieres syndrome 3, is related to aicardi-goutieres syndrome and pseudo-torch syndrome 2, and has symptoms including seizures, muscle spasticity and petechiae of skin. An important gene associated with Aicardi-Goutieres Syndrome 3 is RNASEH2C (Ribonuclease H2 Subunit C). Affiliated tissues include eye, brain and kidney, and related phenotypes are spasticity and hyperreflexia

UniProtKB/Swiss-Prot : 73 Aicardi-Goutieres syndrome 3: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.

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Related Diseases for Aicardi-Goutieres Syndrome 3

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Diseases in the Aicardi-Goutieres Syndrome family:

Aicardi-Goutieres Syndrome 1 Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 3 Aicardi-Goutieres Syndrome 4
Aicardi-Goutieres Syndrome 5 Aicardi-Goutieres Syndrome 6
Aicardi-Goutieres Syndrome 7

Diseases related to Aicardi-Goutieres Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 31.3 RNASEH2C KAT5
2 pseudo-torch syndrome 2 11.8
3 pseudo-torch syndrome 3 11.7
4 aicardi-goutieres syndrome 1 11.6
5 hoyeraal hreidarsson syndrome 11.2
6 aicardi-goutieres syndrome 2 11.2
7 aicardi-goutieres syndrome 4 11.2
8 aicardi-goutieres syndrome 5 11.2
9 aicardi-goutieres syndrome 6 11.2
10 encephalopathy 10.9
11 microcephaly 10.4
12 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.2
13 cerebellar hypoplasia 10.2
14 rubella 10.2
15 toxoplasmosis 10.2
16 polymicrogyria 10.2
17 spasticity 10.2
18 pertussis 10.1
19 mumps 10.0
20 hydrocephalus 10.0
21 neonatal jaundice 10.0
22 bilirubin metabolic disorder 10.0
23 syphilis 10.0
24 herpes simplex 10.0
25 chickenpox 10.0
26 diabetes insipidus 10.0
27 cerebral atrophy 10.0
28 seizure disorder 10.0
29 type 1 interferonopathy 10.0
30 pseudo-torch syndrome 1 10.0
31 torch syndrome 10.0
32 encephalitis 10.0
33 congenital intrauterine infection-like syndrome 10.0
34 myeloma, multiple 9.9
35 pulmonary disease, chronic obstructive 9.9
36 aspergillosis 9.9
37 opioid addiction 9.9
38 brain injury 9.9
39 traumatic brain injury 9.9
40 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 9.6 RNASEH2C KAT5

Graphical network of the top 20 diseases related to Aicardi-Goutieres Syndrome 3:



Diseases related to Aicardi-Goutieres Syndrome 3
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Symptoms & Phenotypes for Aicardi-Goutieres Syndrome 3

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Human phenotypes related to Aicardi-Goutieres Syndrome 3:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 hyperreflexia 31 HP:0001347
3 nystagmus 31 HP:0000639
4 cerebral calcification 31 HP:0002514
5 elevated hepatic transaminase 31 HP:0002910
6 thrombocytopenia 31 HP:0001873
7 dystonia 31 HP:0001332
8 severe global developmental delay 31 HP:0011344
9 hypoplasia of the corpus callosum 31 HP:0002079
10 encephalopathy 31 HP:0001298
11 generalized hypotonia 31 HP:0001290
12 hepatosplenomegaly 31 HP:0001433
13 delayed myelination 31 HP:0012448
14 progressive microcephaly 31 HP:0000253
15 csf lymphocytic pleiocytosis 31 HP:0200149
16 chilblains 31 HP:0009710

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
encephalopathy
delayed myelination
intracranial calcifications
thin corpus callosum
more
Head And Neck Head:
microcephaly

Skin Nails Hair Skin:
chilblains

Head And Neck Eyes:
nystagmus
roving eye movements
visual inattention

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
increased csf alpha-interferon
csf lymphocytosis
increased serum alpha-interferon

Clinical features from OMIM®:

610329 (Updated 05-Mar-2021)

UMLS symptoms related to Aicardi-Goutieres Syndrome 3:


seizures, muscle spasticity, petechiae of skin

GenomeRNAi Phenotypes related to Aicardi-Goutieres Syndrome 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-1 9.26 KAT5 RNASEH2C
2 Decreased homologous recombination repair frequency GR00236-A-2 9.26 KAT5 RNASEH2C
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 8.8 RNASEH2C
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 KAT5 RNASEH2C
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Drugs & Therapeutics for Aicardi-Goutieres Syndrome 3

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Search Clinical Trials , NIH Clinical Center for Aicardi-Goutieres Syndrome 3

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Genetic Tests for Aicardi-Goutieres Syndrome 3

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Genetic tests related to Aicardi-Goutieres Syndrome 3:

# Genetic test Affiliating Genes
1 Aicardi Goutieres Syndrome 3 29 RNASEH2C
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Anatomical Context for Aicardi-Goutieres Syndrome 3

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MalaCards organs/tissues related to Aicardi-Goutieres Syndrome 3:

40
Eye, Brain, Kidney, Cortex, Heart, Lung, Prostate
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Publications for Aicardi-Goutieres Syndrome 3

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Articles related to Aicardi-Goutieres Syndrome 3:

(show top 50) (show all 109)
# Title Authors PMID Year
1
Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C. 6 57
23322642 2013
2
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 57 6
16845400 2006
3
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 6
17846997 2007
4
AGS3-dependent trans-Golgi network membrane trafficking is essential for compaction in mouse embryos. 61
33148610 2020
5
AGS3 and Gαi3 Are Concomitantly Upregulated as Part of the Spindle Orientation Complex during Differentiation of Human Neural Progenitor Cells. 61
33172018 2020
6
Intersection of two key signal integrators in the cell: activator of G-protein signaling 3 and dishevelled-2. 61
32737219 2020
7
RGS4 controls Gαi3-mediated regulation of Bcl-2 phosphorylation on TGN38-containing intracellular membranes. 61
32501280 2020
8
Calcineurin signaling pathway influences Aspergillus niger biofilm formation by affecting hydrophobicity and cell wall integrity. 61
32190119 2020
9
Activator of G protein signaling 3 modulates prostate tumor development and progression. 61
31215992 2019
10
Role of G-proteins and phosphorylation in the distribution of AGS3 to cell puncta. 61
30404823 2018
11
A Residue outside the Binding Site Determines the Gα Binding Specificity of GoLoco Motifs. 61
30406994 2018
12
Urinary exosomal expression of activator of G protein signaling 3 in polycystic kidney disease. 61
29880041 2018
13
Loss of the canonical spindle orientation function in the Pins/LGN homolog AGS3. 61
28684399 2017
14
Ric-8A, an activator protein of Gαi, controls mammalian epithelial cell polarity for tight junction assembly and cystogenesis. 61
28185378 2017
15
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. 61
27643693 2016
16
Regulation of Airway Inflammation by G-protein Regulatory Motif Peptides of AGS3 protein. 61
27270970 2016
17
Regulator of G-protein signalling and GoLoco proteins suppress TRPC4 channel function via acting at Gαi/o. 61
26987813 2016
18
Activator of G-Protein Signaling 3-Induced Lysosomal Biogenesis Limits Macrophage Intracellular Bacterial Infection. 61
26667172 2016
19
In vitro mitomycin C absorption and delivery with different sponge materials used in filtering surgery. 61
27143843 2016
20
XAS Investigation of Silver(I) Coordination in Copper(I) Biological Binding Sites. 61
26632864 2015
21
Activator of G-protein Signaling 3 Controls Renal Epithelial Cell Survival and ERK5 Activation. 61
27096004 2015
22
Direct Coupling of a Seven-Transmembrane-Span Receptor to a Gαi G-Protein Regulatory Motif Complex. 61
25972449 2015
23
AGS3 is involved in TNF-α medicated osteogenic differentiation of human dental pulp stem cells. 61
26143356 2015
24
Overexpression of activator of G-protein signaling 3 decreases the proliferation of esophageal squamous cell carcinoma. 61
25812748 2015
25
Localization and expression profile of Group I and II Activators of G-protein Signaling in the kidney. 61
25533045 2015
26
Activator of G protein signaling 3 forms a complex with resistance to inhibitors of cholinesterase-8A without promoting nucleotide exchange on Gα(i3). 61
25480567 2015
27
Gαi3-Dependent Inhibition of JNK Activity on Intracellular Membranes. 61
26389115 2015
28
Development of inhibitors of heterotrimeric Gαi subunits. 61
24818958 2014
29
Implications of non-canonical G-protein signaling for the immune system. 61
24583286 2014
30
Defective chemokine signal integration in leukocytes lacking activator of G protein signaling 3 (AGS3). 61
24573680 2014
31
G Protein-coupled receptor kinase-6 interacts with activator of G protein signaling-3 to regulate CXCR2-mediated cellular functions. 61
24510965 2014
32
A role for activator of G-protein signaling 3 (AGS3) in multiple myeloma. 61
24307516 2014
33
Translocation of activator of G-protein signaling 3 to the Golgi apparatus in response to receptor activation and its effect on the trans-Golgi network. 61
23770668 2013
34
IGF-1 activates a cilium-localized noncanonical Gβγ signaling pathway that regulates cell-cycle progression. 61
23954591 2013
35
The cell polarity protein mInsc regulates neutrophil chemotaxis via a noncanonical G protein signaling pathway. 61
23891662 2013
36
Differential effects of AGS3 expression on D(2L) dopamine receptor-mediated adenylyl cyclase signaling. 61
23504261 2013
37
Increased expression of AGS3 in rat brain cortex after traumatic brain injury. 61
23404409 2013
38
Silver(I) complex formation with cysteine, penicillamine, and glutathione. 61
23556419 2013
39
Regulation of the G-protein regulatory-Gαi signaling complex by nonreceptor guanine nucleotide exchange factors. 61
23212907 2013
40
Deletion of the α-(1,3)-glucan synthase genes induces a restructuring of the conidial cell wall responsible for the avirulence of Aspergillus fumigatus. 61
24244155 2013
41
Normal autophagic activity in macrophages from mice lacking Gαi3, AGS3, or RGS19. 61
24312373 2013
42
N-Acetyl-cysteine causes analgesia by reinforcing the endogenous activation of type-2 metabotropic glutamate receptors. 61
23088864 2012
43
The G-protein regulator LGN modulates the activity of the NO receptor soluble guanylate cyclase. 61
22690686 2012
44
α1,3 glucans are dispensable in Aspergillus fumigatus. 61
22058140 2012
45
Structural basis for interaction between the conserved cell polarity proteins Inscuteable and Leu-Gly-Asn repeat-enriched protein (LGN). 61
22074847 2011
46
Dynamic localization of C. elegans TPR-GoLoco proteins mediates mitotic spindle orientation by extrinsic signaling. 61
21903670 2011
47
Loss of activator of G-protein signaling 3 impairs renal tubular regeneration following acute kidney injury in rodents. 61
21343176 2011
48
A GDI (AGS3) and a GEF (GIV) regulate autophagy by balancing G protein activity and growth factor signals. 61
21209316 2011
49
Asymmetric cell divisions promote Notch-dependent epidermal differentiation. 61
21331036 2011
50
Regulation of the AGS3·G{alpha}i signaling complex by a seven-transmembrane span receptor. 61
20716524 2010
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Variations for Aicardi-Goutieres Syndrome 3

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ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 3:

6 (show top 50) (show all 93)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RNASEH2C NM_032193.3(RNASEH2C):c.428A>T (p.Lys143Ile) SNV Pathogenic 1261 rs75146158 11:65487556-65487556 11:65720085-65720085
2 RNASEH2C NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp) SNV Pathogenic/Likely pathogenic 1260 rs78635798 11:65487856-65487856 11:65720385-65720385
3 RNASEH2C NM_032193.4(RNASEH2C):c.450G>T (p.Trp150Cys) SNV Likely pathogenic 983437 11:65487534-65487534 11:65720063-65720063
4 RNASEH2C NM_032193.3(RNASEH2C):c.178dup (p.Glu60fs) Duplication Likely pathogenic 203392 rs772940104 11:65487882-65487883 11:65720411-65720412
5 RNASEH2C NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) SNV Conflicting interpretations of pathogenicity 305361 rs147021687 11:65487567-65487567 11:65720096-65720096
6 RNASEH2C NM_032193.3(RNASEH2C):c.468+8G>A SNV Conflicting interpretations of pathogenicity 305359 rs751767695 11:65487508-65487508 11:65720037-65720037
7 RNASEH2C NM_032193.3(RNASEH2C):c.269A>T (p.Lys90Met) SNV Uncertain significance 445891 rs772347588 11:65487792-65487792 11:65720321-65720321
8 KAT5 NM_032193.4(RNASEH2C):c.*374T>G SNV Uncertain significance 877674 11:65486880-65486880 11:65719409-65719409
9 KAT5 NM_032193.4(RNASEH2C):c.*1699G>C SNV Uncertain significance 878642 11:65485555-65485555 11:65718084-65718084
10 KAT5 NM_032193.4(RNASEH2C):c.*317C>T SNV Uncertain significance 878689 11:65486937-65486937 11:65719466-65719466
11 RNASEH2C NM_032193.4(RNASEH2C):c.*178C>G SNV Uncertain significance 878692 11:65487076-65487076 11:65719605-65719605
12 KAT5 NM_032193.4(RNASEH2C):c.*1532G>A SNV Uncertain significance 879240 11:65485722-65485722 11:65718251-65718251
13 KAT5 NM_032193.4(RNASEH2C):c.*1378G>C SNV Uncertain significance 879241 11:65485876-65485876 11:65718405-65718405
14 RNASEH2C NM_032193.4(RNASEH2C):c.455G>T (p.Ser152Ile) SNV Uncertain significance 879297 11:65487529-65487529 11:65720058-65720058
15 RNASEH2C NM_032193.4(RNASEH2C):c.455G>A (p.Ser152Asn) SNV Uncertain significance 879298 11:65487529-65487529 11:65720058-65720058
16 KAT5 NM_182710.3(KAT5):c.1265-575G>A SNV Uncertain significance 305329 rs886048486 11:65485486-65485486 11:65718015-65718015
17 KAT5 NM_182710.3(KAT5):c.*146C>T SNV Uncertain significance 305349 rs561937926 11:65486798-65486798 11:65719327-65719327
18 RNASEH2C NM_032193.3(RNASEH2C):c.-27G>T SNV Uncertain significance 305368 rs549471118 11:65488256-65488256 11:65720785-65720785
19 RNASEH2C NM_032193.3(RNASEH2C):c.173-4C>G SNV Uncertain significance 305365 rs886048501 11:65487892-65487892 11:65720421-65720421
20 KAT5 NM_182710.3(KAT5):c.*42G>A SNV Uncertain significance 305345 rs886048494 11:65486694-65486694 11:65719223-65719223
21 KAT5 NM_182710.3(KAT5):c.1524A>C (p.Thr508=) SNV Uncertain significance 305343 rs886048492 11:65486535-65486535 11:65719064-65719064
22 KAT5 NM_182710.3(KAT5):c.*217G>T SNV Uncertain significance 305352 rs757672652 11:65486869-65486869 11:65719398-65719398
23 RNASEH2C NM_032193.3(RNASEH2C):c.268_269delinsGT (p.Lys90Val) Indel Uncertain significance 570365 rs1565213438 11:65487792-65487793 11:65720321-65720322
24 RNASEH2C NC_000011.10:g.65720897C>A SNV Uncertain significance 877708 11:65488368-65488368 11:65720897-65720897
25 RNASEH2C NC_000011.10:g.65720944T>G SNV Uncertain significance 877709 11:65488415-65488415 11:65720944-65720944
26 RNASEH2C NM_032193.4(RNASEH2C):c.348C>G (p.Phe116Leu) SNV Uncertain significance 880475 11:65487713-65487713 11:65720242-65720242
27 RNASEH2C NM_032193.3(RNASEH2C):c.169G>A (p.Glu57Lys) SNV Uncertain significance 640671 rs769127379 11:65488061-65488061 11:65720590-65720590
28 RNASEH2C NM_032193.3(RNASEH2C):c.434G>T (p.Arg145Leu) SNV Uncertain significance 640757 rs774773395 11:65487550-65487550 11:65720079-65720079
29 RNASEH2C NM_032193.3(RNASEH2C):c.472C>G (p.His158Asp) SNV Uncertain significance 659651 rs759118175 11:65487277-65487277 11:65719806-65719806
30 RNASEH2C NM_032193.3(RNASEH2C):c.175C>A (p.Leu59Ile) SNV Uncertain significance 636423 rs764887792 11:65487886-65487886 11:65720415-65720415
31 RNASEH2C NM_032193.4(RNASEH2C):c.49C>A (p.Arg17Ser) SNV Uncertain significance 934107 11:65488181-65488181 11:65720710-65720710
32 RNASEH2C NM_032193.4(RNASEH2C):c.59C>T (p.Thr20Ile) SNV Uncertain significance 939310 11:65488171-65488171 11:65720700-65720700
33 RNASEH2C NM_032193.4(RNASEH2C):c.463G>A (p.Ala155Thr) SNV Uncertain significance 948945 11:65487521-65487521 11:65720050-65720050
34 RNASEH2C NM_032193.4(RNASEH2C):c.307G>A (p.Gly103Arg) SNV Uncertain significance 955179 11:65487754-65487754 11:65720283-65720283
35 RNASEH2C NM_032193.4(RNASEH2C):c.115G>A (p.Asp39Asn) SNV Uncertain significance 959192 11:65488115-65488115 11:65720644-65720644
36 RNASEH2C NM_032193.4(RNASEH2C):c.142T>C (p.Phe48Leu) SNV Uncertain significance 962484 11:65488088-65488088 11:65720617-65720617
37 RNASEH2C NM_032193.4(RNASEH2C):c.472C>T (p.His158Tyr) SNV Uncertain significance 964010 11:65487277-65487277 11:65719806-65719806
38 RNASEH2C NM_032193.3(RNASEH2C):c.260A>G (p.Glu87Gly) SNV Uncertain significance 580991 rs939276490 11:65487801-65487801 11:65720330-65720330
39 RNASEH2C NM_032193.3(RNASEH2C):c.56C>G (p.Ala19Gly) SNV Uncertain significance 582219 rs773830258 11:65488174-65488174 11:65720703-65720703
40 RNASEH2C NM_032193.3(RNASEH2C):c.434G>C (p.Arg145Pro) SNV Uncertain significance 203393 rs774773395 11:65487550-65487550 11:65720079-65720079
41 RNASEH2C NM_032193.3(RNASEH2C):c.115G>T (p.Asp39Tyr) SNV Uncertain significance 464266 rs773527127 11:65488115-65488115 11:65720644-65720644
42 RNASEH2C NM_032193.4(RNASEH2C):c.305C>T (p.Ser102Phe) SNV Uncertain significance 834397 11:65487756-65487756 11:65720285-65720285
43 RNASEH2C NM_032193.4(RNASEH2C):c.292C>T (p.Pro98Ser) SNV Uncertain significance 836029 11:65487769-65487769 11:65720298-65720298
44 RNASEH2C NM_032193.4(RNASEH2C):c.235C>G (p.Leu79Val) SNV Uncertain significance 836445 11:65487826-65487826 11:65720355-65720355
45 RNASEH2C NM_032193.4(RNASEH2C):c.31A>G (p.Arg11Gly) SNV Uncertain significance 848598 11:65488199-65488199 11:65720728-65720728
46 RNASEH2C NM_032193.3(RNASEH2C):c.348+6C>T SNV Uncertain significance 305362 rs779293116 11:65487707-65487707 11:65720236-65720236
47 KAT5 NM_182710.3(KAT5):c.1473T>G (p.Thr491=) SNV Uncertain significance 305341 rs886048491 11:65486392-65486392 11:65718921-65718921
48 KAT5 NM_182710.3(KAT5):c.1265-311C>T SNV Uncertain significance 305335 rs886048489 11:65485750-65485750 11:65718279-65718279
49 KAT5 NM_182710.3(KAT5):c.1265-585G>C SNV Uncertain significance 305327 rs886048485 11:65485476-65485476 11:65718005-65718005
50 RNASEH2C NM_032193.3(RNASEH2C):c.-89C>G SNV Uncertain significance 305369 rs886048503 11:65488318-65488318 11:65720847-65720847

UniProtKB/Swiss-Prot genetic disease variations for Aicardi-Goutieres Syndrome 3:

73
# Symbol AA change Variation ID SNP ID
1 RNASEH2C p.Arg69Trp VAR_027287 rs78635798
2 RNASEH2C p.Lys143Ile VAR_027288 rs75146158
3 RNASEH2C p.Arg13His VAR_070618 rs75328625
4 RNASEH2C p.Asp39Tyr VAR_070619 rs773527127
5 RNASEH2C p.Pro76Leu VAR_070620 rs76091978
6 RNASEH2C p.Pro138Leu VAR_070621
7 RNASEH2C p.Pro151Ser VAR_070622 rs78464826

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Expression for Aicardi-Goutieres Syndrome 3

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Search GEO for disease gene expression data for Aicardi-Goutieres Syndrome 3.
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Pathways for Aicardi-Goutieres Syndrome 3

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GO Terms for Aicardi-Goutieres Syndrome 3

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Sources for Aicardi-Goutieres Syndrome 3

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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