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Gene table of EFHC1 :
EF-hand domain containing 1
Gene-disease associations table
Disease ID
Disease name
Source of annotation with EFHC1
OMIM link
Number of associated genes
genes
254770
EPILEPSY, MYOCLONIC JUVENILE
OMIM, HUMSAVAR
link to OMIM
1
EFHC1
607631
EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1
ClinVar, OMIM
link to OMIM
1
EFHC1
Download the gene annotation in CSV format
Annotation of the gene EFHC1
Associated genes in ENSEMBL
ENSG00000096093
Associated proteins - SwissProt Accession ID
Q5JVL4
Associated PDB IDs
Cytogenetic Band
6p12.2
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO term
GO ID
GO IC
cation binding
GO:0043169
1.4
protein C-terminus binding
GO:0008022
4.5
ion binding
GO:0043167
1.36
binding
GO:0005488
0.18
protein binding
GO:0005515
0.46
metal ion binding
GO:0046872
1.41
calcium ion binding
GO:0005509
3.17