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Gene table of CCBE1 :
collagen and calcium binding EGF domains 1
Gene-disease associations table
Disease ID
Disease name
Source of annotation with CCBE1
OMIM link
Number of associated genes
genes
235510
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
ClinVar, OMIM, HUMSAVAR
link to OMIM
1
CCBE1
Download the gene annotation in CSV format
Annotation of the gene CCBE1
Associated genes in ENSEMBL
ENSG00000183287
Associated proteins - SwissProt Accession ID
Q6UXH8
Associated PDB IDs
Cytogenetic Band
18q21.32
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
collagen binding
GO:0005518
5.58
protease binding
GO:0002020
5.08
enzyme binding
GO:0019899
2.27
ion binding
GO:0043167
1.36
macromolecular complex binding
GO:0044877
2.61
binding
GO:0005488
0.18
protein binding
GO:0005515
0.46
protein complex binding
GO:0032403
3.09
metal ion binding
GO:0046872
1.41
calcium ion binding
GO:0005509
3.17