Gene table of GPHN : gephyrin

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GPHN	OMIM link	Number of associated genes	genes
PS252150	MOLYBDENUM COFACTOR DEFICIENCY	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	MOCS2, MOCS1, GPHN
149400	HYPEREKPLEXIA, HEREDITARY 1	ClinVar	link to OMIM	2	GPHN, GLRA1

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

KEGG pathway	KEGG ID	KEGG IC
GABAergic synapse	hsa04727	6.24

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Molybdenum cofactor biosynthesis	R-HSA-947581	10.18
Metabolism of vitamins and cofactors	R-HSA-196854	6.54
Metabolism of water-soluble vitamins and cofactors	R-HSA-196849	6.54
Metabolism	R-HSA-1430728	2.34

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
ion binding	GO:0043167	1.36
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
molybdopterin molybdotransferase activity	GO:0061599	9.74
molybdopterin adenylyltransferase activity	GO:0061598	9.74
nucleotide binding	GO:0000166	1.96
transferase activity	GO:0016740	1.95
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
cation binding	GO:0043169	1.4
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
nucleotidyltransferase activity	GO:0016779	4.81
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
adenylyltransferase activity	GO:0070566	6.56
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
organic cyclic compound binding	GO:0097159	1.05
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19