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Aminoacylase deficiency
Aminoacylase deficiency
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
AMINOACYLASE 1 DEFICIENCY
C1835922
137754
609924
MESH:C538246
MONDO:0012368
ACTB
Causal
—
Disgenet
ATP-dependent chromatin remodeling
Rap1 signaling pathway
Phagosome
Apoptosis
Hippo signaling pathway
Focal adhesion
Adherens junction
Tight junction
Platelet activation
Neutrophil extracellular trap formation
Leukocyte transendothelial migration
Thermogenesis
Regulation of actin cytoskeleton
Motor proteins
Cytoskeleton in muscle cells
Thyroid hormone signaling pathway
Oxytocin signaling pathway
Gastric acid secretion
Amyotrophic lateral sclerosis
Bacterial invasion of epithelial cells
Vibrio cholerae infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Yersinia infection
Influenza A
Proteoglycans in cancer
Hepatocellular carcinoma
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis
Fluid shear stress and atherosclerosis
Gap junction degradation
Formation of annular gap junctions
Regulation of actin dynamics for phagocytic cup formation
EPHB-mediated forward signaling
EPH-ephrin mediated repulsion of cells
Adherens junctions interactions
Recycling pathway of L1
VEGFA-VEGFR2 Pathway
Interaction between L1 and Ankyrins
Cell-extracellular matrix interactions
B-WICH complex positively regulates rRNA expression
RHO GTPases activate IQGAPs
RHO GTPases Activate WASPs and WAVEs
RHO GTPases Activate Formins
MAP2K and MAPK activation
UCH proteinases
DNA Damage Recognition in GG-NER
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Clathrin-mediated endocytosis
Signaling downstream of RAS mutants
FCGR3A-mediated phagocytosis
+54 more
ACY1
Causal
16274666
17562838
16465618
CTD
,
ClinGen
,
ClinVar
,
Disgenet
,
GWAS catalog
,
HPO
,
Orphanet
Arginine biosynthesis
Metabolic pathways
2-Oxocarboxylic acid metabolism
Biosynthesis of amino acids
Aflatoxin activation and detoxification
Defective ACY1 causes encephalopathy
+3 more
All
4
Causal
2
Unknown
3
Select all
Clear
ClinVar
1
Orphanet
1
Disgenet
2
CTD
1
HPO
1
GWAS catalog
1
GenCC
0
ClinGen
1
Related Diseases
Diseases that share the most curated genes with Aminoacylase deficiency.
5
View disease cluster →
Becker nevus syndrome
1 shared gene
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Related via 1 shared gene including ACTB.
Congenital smooth muscle hamartoma
1 shared gene
ACTB
Related via 1 shared gene including ACTB.
Developmental malformations-deafness-dystonia syndrome
1 shared gene
ACTB
Related via 1 shared gene including ACTB.
Dystonia-deafness syndrome
1 shared gene
ACTB
Related via 1 shared gene including ACTB.
ACTB-associated syndromic thrombocytopenia
1 shared gene
ACTB
Related via 1 shared gene including ACTB.
1
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