Gene table of FBLN1 : fibulin 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with FBLN1	OMIM link	Number of associated genes	genes
608180	SYNPOLYDACTYLY 2	OMIM	link to OMIM	1	FBLN1

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

REACTOME pathway	REACTOME ID	REACTOME IC
Elastic fibre formation	R-HSA-1566948	7.49
Extracellular matrix organization	R-HSA-1474244	4.91
Molecules associated with elastic fibres	R-HSA-2129379	7.73

Associated GO terms for Molecular function

GO term	GO ID	GO IC
protein C-terminus binding	GO:0008022	4.5
extracellular matrix structural constituent	GO:0005201	5.37
macromolecular complex binding	GO:0044877	2.61
enzyme activator activity	GO:0008047	3.56
molecular function regulator	GO:0098772	2.51
cation binding	GO:0043169	1.4
ion binding	GO:0043167	1.36
calcium ion binding	GO:0005509	3.17
protein complex binding	GO:0032403	3.09
metal ion binding	GO:0046872	1.41
identical protein binding	GO:0042802	2.63
integrin binding	GO:0005178	5.07
structural molecule activity	GO:0005198	3.1
enzyme regulator activity	GO:0030234	2.85
peptidase regulator activity	GO:0061134	4.37
cell adhesion molecule binding	GO:0050839	4.5
fibrinogen binding	GO:0070051	8.64
fibronectin binding	GO:0001968	6.41
protein binding	GO:0005515	0.46
peptidase activator activity	GO:0016504	6.13
receptor binding	GO:0005102	2.43
binding	GO:0005488	0.18