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Elejalde syndrome
Elejalde syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Elejalde syndrome
MONDO_0008709
MYO5A
Unknown
9207796
12148598
22711375
Open Targets
Motor proteins
Pathogenic Escherichia coli infection
Regulation of actin dynamics for phagocytic cup formation
FCGR3A-mediated phagocytosis
+1 more
RAB27A
Unknown
28357189
28484936
21314004
25312756
28585352
20591709
25500851
24678334
26927810
18489042
Open Targets
Neutrophil degranulation
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs
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 Elejalde syndrome.
5
View disease cluster →
Griscelli syndrome
2 shared genes
RAB27A, MYO5A
Related via 2 shared genes including RAB27A, MYO5A.
Griscelli syndrome type 2
1 shared gene
RAB27A
Related via 1 shared gene including RAB27A.
Cerebellar cortical atrophy
1 shared gene
MYO5A
Related via 1 shared gene including MYO5A.
Griscelli syndrome type 1
1 shared gene
MYO5A
Related via 1 shared gene including MYO5A.
Hereditary elliptocytosis
1 shared gene
MYO5A
Related via 1 shared gene including MYO5A.
1
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