Gene table of EFHC1 : EF-hand domain containing 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with EFHC1OMIM linkNumber of associated genesgenes
254770EPILEPSY, MYOCLONIC JUVENILEOMIM, HUMSAVAR link to OMIM 1EFHC1
607631EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1ClinVar, OMIM link to OMIM 1EFHC1

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Annotation of the gene EFHC1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
cation bindingGO:00431691.4
protein C-terminus bindingGO:00080224.5
ion bindingGO:00431671.36
bindingGO:00054880.18
protein bindingGO:00055150.46
metal ion bindingGO:00468721.41
calcium ion bindingGO:00055093.17