|
rs77103971
|
RNASEH2A;HOOK2
|
AICARDI-GOUTIERES SYNDROME
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.
|
21454563 |
2011 |
|
rs77103971
|
RNASEH2A;HOOK2
|
AICARDI-GOUTIERES SYNDROME
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
|
rs77103971
|
RNASEH2A;HOOK2
|
AICARDI-GOUTIERES SYNDROME
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
|
17846997 |
2007 |
|
rs397515479
|
RNASEH2A;HOOK2
|
AICARDI-GOUTIERES SYNDROME 4
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs397515480
|
RNASEH2A;HOOK2
|
AICARDI-GOUTIERES SYNDROME 4
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs753679297
|
RNASEH2A;HOOK2
|
AICARDI-GOUTIERES SYNDROME 4
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs753679297
|
RNASEH2A;HOOK2
|
AICARDI-GOUTIERES SYNDROME 4
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs75718910
|
RNASEH2A;HOOK2
|
AICARDI-GOUTIERES SYNDROME 4
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs77672568
|
RNASEH2A;HOOK2
|
AICARDI-GOUTIERES SYNDROME 4
|
AG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs78705193
|
RNASEH2A;HOOK2
|
AICARDI-GOUTIERES SYNDROME 4
|
GGC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs79843600
|
RNASEH2A;HOOK2
|
AICARDI-GOUTIERES SYNDROME 4
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1055679036
|
PRDX2;RNASEH2A;HOOK2
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.020 |
GeneticVariation |
BEFREE |
Here we have performed systematic studies of purified resPrP<sup>D</sup> species extracted from GSS cases with the A117V (GSS<sup>A117V</sup>) and F198S (GSS<sup>F198S</sup>) PrP gene mutations.
|
31142381 |
2019 |
|
rs1055679036
|
PRDX2;RNASEH2A;HOOK2
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.020 |
GeneticVariation |
BEFREE |
A 16 kDa thermolysin-resistant signature was also found in GSS patients with P102L, A117V, H187R and F198S alleles and has coordinates similar to GSS stop codon mutations.
|
29338055 |
2018 |
|
rs76857106
|
RNASEH2A;HOOK2
|
Autoimmune Diseases
|
|
0.010 |
GeneticVariation |
BEFREE |
We believe that the G37S knock-in mouse provides an excellent animal model for studying RNASEH2-associated autoimmune diseases.
|
26880576 |
2016 |
|
rs76857106
|
RNASEH2A;HOOK2
|
Menstrual spotting
|
|
0.010 |
GeneticVariation |
BEFREE |
Ablation of STING in the G37S mice results in partial rescue of the perinatal lethality, with viable mice exhibiting white spotting on their ventral surface.
|
26880576 |
2016 |
|
rs775414901
|
PRDX2;RNASEH2A;HOOK2
|
Amyotrophic Lateral Sclerosis, Familial
|
|
0.010 |
GeneticVariation |
BEFREE |
To clarify the biological significance of the interaction of the redox system (Prx2/GPx1) with SOD1 in SOD1-mutated motor neurons in vivo, we produced an affinity-purified rabbit antibody against Prx2 and investigated the immunohistochemical localization of Prx2 and GPx1 in neuronal Lewy body-like hyaline inclusions (LBHIs) in the spinal cords of familial amyotrophic lateral sclerosis (FALS) patients with a two-base pair deletion at codon 126 and an Ala-->Val substitution at codon 4 in the SOD1 gene, as well as in transgenic rats expressing human SOD1 with H46R and G93A mutations.
|
14648077 |
2004 |