Gene table of RAPSN : receptor associated protein of the synapse

Gene-disease associations table

Disease ID	Disease name	Source of annotation with RAPSN	OMIM link	Number of associated genes	genes
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
208150	FETAL AKINESIA DEFORMATION SEQUENCE	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	MUSK, RAPSN, DOK7

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 term	GO ID	GO IC
cation binding	GO:0043169	1.4
transition metal ion binding	GO:0046914	2.48
acetylcholine receptor binding	GO:0033130	7.66
protein anchor	GO:0043495	7.66
ionotropic glutamate receptor binding	GO:0035255	6.56
ion binding	GO:0043167	1.36
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
receptor binding	GO:0005102	2.43
metal ion binding	GO:0046872	1.41
glutamate receptor binding	GO:0035254	6.13
zinc ion binding	GO:0008270	2.66