Gene table of EFEMP1 : EGF containing fibulin like extracellular matrix protein 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with EFEMP1	OMIM link	Number of associated genes	genes
126600	DOYNE HONEYCOMB RETINAL DYSTROPHY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	EFEMP1

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
signaling receptor activity	GO:0038023	2.49
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
cation binding	GO:0043169	1.4
growth factor activity	GO:0008083	4.66
transferase activity	GO:0016740	1.95
ion binding	GO:0043167	1.36
transmembrane receptor protein tyrosine kinase activity	GO:0004714	5.55
protein tyrosine kinase activity	GO:0004713	4.54
protein kinase activity	GO:0004672	3.27
metal ion binding	GO:0046872	1.41
calcium ion binding	GO:0005509	3.17
epidermal growth factor receptor binding	GO:0005154	6.34
kinase activity	GO:0016301	2.93
catalytic activity	GO:0003824	1.05
growth factor receptor binding	GO:0070851	4.87
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
transmembrane signaling receptor activity	GO:0004888	2.57
protein binding	GO:0005515	0.46
epidermal growth factor-activated receptor activity	GO:0005006	9.05
receptor binding	GO:0005102	2.43
transmembrane receptor protein kinase activity	GO:0019199	5.32
transmembrane receptor activity	GO:0099600	2.53
receptor activity	GO:0004872	2.32