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Muscular hypotonia
Muscular hypotonia
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Muscular hypotonia
HP:0001252
MSL3
Unknown
26350204
19377476
25529582
28135719
30224647
Open Targets
HATs acetylate histones
NUDT2
Unknown
30059600
33058507
27431290
Open Targets
Purine metabolism
Pyrimidine metabolism
Metabolic pathways
Detoxification of Reactive Oxygen Species
+1 more
P4HTM
Unknown
25078763
30940925
Open Targets
—
PPP2CA
Unknown
29274472
30030003
30595372
Open Targets
mRNA surveillance pathway
Sphingolipid signaling pathway
Cell cycle
Oocyte meiosis
Autophagy - other
Autophagy - animal
PI3K-Akt signaling pathway
AMPK signaling pathway
Adrenergic signaling in cardiomyocytes
TGF-beta signaling pathway
Hippo signaling pathway
Tight junction
T cell receptor signaling pathway
Dopaminergic synapse
Long-term depression
Chagas disease
Hepatitis C
Human papillomavirus infection
Inhibition of replication initiation of damaged DNA by RB1/E2F1
Spry regulation of FGF signaling
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
DARPP-32 events
Degradation of beta-catenin by the destruction complex
Beta-catenin phosphorylation cascade
ERK/MAPK targets
ERKs are inactivated
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Initiation of Nuclear Envelope (NE) Reformation
CTLA4 inhibitory signaling
Platelet sensitization by LDL
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Misspliced GSK3beta mutants stabilize beta-catenin
S33 mutants of beta-catenin aren't phosphorylated
S37 mutants of beta-catenin aren't phosphorylated
S45 mutants of beta-catenin aren't phosphorylated
T41 mutants of beta-catenin aren't phosphorylated
APC truncation mutants have impaired AXIN binding
AXIN missense mutants destabilize the destruction complex
Truncations of AMER1 destabilize the destruction complex
RHO GTPases Activate Formins
RAF activation
Negative regulation of MAPK pathway
Regulation of TP53 Degradation
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Mitotic Prometaphase
Cyclin D associated events in G1
Cyclin A/B1/B2 associated events during G2/M transition
EML4 and NUDC in mitotic spindle formation
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
+47 more
All
4
Causal
0
Unknown
4
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
4
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5
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Syndromic intellectual disability resembling other pp2a related neurodevelopmental disorders
1 shared gene
PPP2CA
Related via 1 shared gene including PPP2CA.
Language impairment
1 shared gene
PPP2CA
Related via 1 shared gene including PPP2CA.
Neurodevelopmental disorder and language delay with or without structural brain abnormalities
1 shared gene
PPP2CA
Related via 1 shared gene including PPP2CA.
Intellectual developmental disorder peripheral neuropathy
1 shared gene
NUDT2
Related via 1 shared gene including NUDT2.
Basilicata-akhtar syndrome
1 shared gene
MSL3
Related via 1 shared gene including MSL3.
1
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