Gene table of LRP4 : LDL receptor related protein 4

Gene-disease associations table

Disease ID	Disease name	Source of annotation with LRP4	OMIM link	Number of associated genes	genes
PS269500	SCLEROSTEOSIS	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	LRP4, SOST
212780	CENANI-LENZ SYNDACTYLY SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	LRP4
PS601462	MYASTHENIC SYNDROME, CONGENITAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	23	LRP4, CHRNE, DOK7, CHRNB1, CHAT, COX10, COLQ, COL13A1, DPAGT1, ALG14, MUSK, AGRN, SNAP25, SURF1, GFPT1, CHRNA1, RAPSN, CHRND, SCN4A, TACO1, SYT2, COX15, ALG2

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
ECM proteoglycans	R-HSA-3000178	6.75
Extracellular matrix organization	R-HSA-1474244	4.91

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
calcium ion binding	GO:0005509	3.17
protein dimerization activity	GO:0046983	2.72
receptor tyrosine kinase binding	GO:0030971	5.77
enzyme binding	GO:0019899	2.27
ion binding	GO:0043167	1.36
protein kinase binding	GO:0019901	3.44
kinase binding	GO:0019900	3.32
scaffold protein binding	GO:0097110	5.93
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
receptor binding	GO:0005102	2.43
metal ion binding	GO:0046872	1.41
protein tyrosine kinase binding	GO:1990782	5.7
apolipoprotein binding	GO:0034185	6.97
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16