Gene table of PMVK : phosphomevalonate kinase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PMVK	OMIM link	Number of associated genes	genes
PS175800	POROKERATOSIS	OMIM	link to OMIM	6	MVD, FDPS, MVK, SLC17A9, SART3, PMVK

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
Terpenoid backbone biosynthesis	hsa00900	8.31
Metabolic pathways	hsa01100	2.49
Peroxisome	hsa04146	6.34

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79
Regulation of cholesterol biosynthesis by SREBP (SREBF)	R-HSA-1655829	7.23
Cholesterol biosynthesis	R-HSA-191273	8.46
Metabolism	R-HSA-1430728	2.34
Activation of gene expression by SREBF (SREBP)	R-HSA-2426168	7.62

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
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
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
phosphomevalonate kinase activity	GO:0004631	9.74
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, phosphate group as acceptor	GO:0016776	6.02
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