Gene table of POMK : protein-O-mannose kinase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with POMK	OMIM link	Number of associated genes	genes
PS253600	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	ClinVar, OMIM	link to OMIM	24	SGCA, TCAP, SGCB, ISPD, BVES, POMK, POMT2, TRAPPC11, SGCD, TTN, FKTN, POMT1, TRIM32, LIMS2, ANO5, CAPN3, DYSF, FKRP, POMGNT1, SGCG, DAG1, GMPPB, DES, PLEC
PS236670	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A	ClinVar, OMIM, HUMSAVAR	link to OMIM	14	GMPPB, POMT2, LARGE1, FKRP, FKTN, TMEM5, B4GAT1, POMT1, B3GALNT2, POMGNT2, ISPD, DAG1, POMGNT1, POMK

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
carbohydrate kinase activity	GO:0019200	6.74
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
ribonucleoside binding	GO:0032549	2.22
nucleotide binding	GO:0000166	1.96
transferase activity	GO:0016740	1.95
purine nucleoside binding	GO:0001883	2.22
protein kinase activity	GO:0004672	3.27
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
kinase activity	GO:0016301	2.93
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
adenyl ribonucleotide binding	GO:0032559	2.41
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19