eDiPNet
☰
Home
Browse
Genes
Diseases
Proteins
SNPs / Variants
Pathways ►
Reactome
KEGG
Analysis
Statistics
Resources
Blogs
Login
Contact Us
Search
Home
/
Diseases
/
Axial hypotonia
Axial hypotonia
Log in to bookmark this disease
Bookmark This Disease
Title
Project / Tag (optional)
Note (optional)
Cancel
Save
Download ▾
Download as CSV
Download as PDF
Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Axial hypotonia
HP:0008936
MED27
Unknown
33443317
Open Targets
Thyroid hormone signaling pathway
PPARA activates gene expression
Generic Transcription Pathway
Transcriptional regulation of white adipocyte differentiation
+1 more
VAMP2
Unknown
30929742
Open Targets
SNARE interactions in vesicular transport
Synaptic vesicle cycle
Insulin secretion
Vasopressin-regulated water reabsorption
Salivary secretion
Serotonin Neurotransmitter Release Cycle
Norepinephrine Neurotransmitter Release Cycle
trans-Golgi Network Vesicle Budding
Glutamate Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
Acetylcholine Neurotransmitter Release Cycle
Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis
Other interleukin signaling
Toxicity of botulinum toxin type D (BoNT/D)
Toxicity of botulinum toxin type B (BoNT/B)
Toxicity of botulinum toxin type F (BoNT/F)
Toxicity of tetanus toxin (TeNT)
Toxicity of botulinum toxin type G (BoNT/G)
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
GABA synthesis, release, reuptake and degradation
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
+20 more
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
2
Related Diseases
Diseases that share the most curated genes with Axial hypotonia.
5
View disease cluster →
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
1 shared gene
MED27
Related via 1 shared gene including MED27.
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
1 shared gene
VAMP2
Related via 1 shared gene including VAMP2.
Stereotypic behavior
1 shared gene
VAMP2
Related via 1 shared gene including VAMP2.
Spasticity
1 shared gene
MED27
Related via 1 shared gene including MED27.
Cerebellar hypoplasia
1 shared gene
MED27
Related via 1 shared gene including MED27.
1
GeDiPNet AI Assistant
Online