Gene table of OPHN1 : oligophrenin 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with OPHN1	OMIM link	Number of associated genes	genes
300486	MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE	ClinVar, OMIM	link to OMIM	1	OPHN1

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
cytoskeletal protein binding	GO:0008092	3.02
enzyme regulator activity	GO:0030234	2.85
phospholipid binding	GO:0005543	3.91
GTPase activator activity	GO:0005096	4.11
lipid binding	GO:0008289	3.26
ionotropic glutamate receptor binding	GO:0035255	6.56
glutamate receptor binding	GO:0035254	6.13
actin binding	GO:0003779	3.74
GTPase regulator activity	GO:0030695	4.01
enzyme activator activity	GO:0008047	3.56
protein binding	GO:0005515	0.46
receptor binding	GO:0005102	2.43
molecular function regulator	GO:0098772	2.51
nucleoside-triphosphatase regulator activity	GO:0060589	3.92
binding	GO:0005488	0.18