Disease table of POROKERATOSIS OMIM ID: PS175800

Gene-disease associations table

GeneAssociated with POROKERATOSIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
FDPSClinVar, OMIM, HUMSAVARHGNC link1q221PS175800
SLC17A9ClinVar, OMIM, HUMSAVARHGNC link20q13.331PS175800
PMVKOMIMHGNC link1q21.31PS175800
MVDOMIM, HUMSAVARHGNC link16q24.21PS175800
SART3ClinVarHGNC link12q23.31PS175800
MVKClinVar, OMIM, HUMSAVARHGNC link12q24.113260920, PS175800, 610377

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
12q22SART3, MVK
1q22FDPS, PMVK
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
1q2FDPS, PMVK
12q2SART3, MVK
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
12FDPS, PMVK
122SART3, MVK
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
FDPSYES4YY1, SREBF2, SREBF1, NFYC0
SART3YES1MYC0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
FDPSSART3No1NTRK1
FDPSMVKNo2NXF1, MOV10

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
FDPSPMVKNo-5UBC, SREBF2, NFYB, NFYA, NFYC
FDPSMVDNo-1SREBF2
FDPSSART3No-1UBC
PMVKMVDNo-1SREBF2
PMVKSART3No-1UBC

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Terpenoid backbone biosynthesishsa009008.314MVK, PMVK, FDPS, MVD
Metabolic pathwayshsa011002.494MVK, PMVK, FDPS, MVD
Peroxisomehsa041466.342MVK, PMVK

NET-GE enrichment

Term New enriched termICP valueGenes
Global and overview mapsNEW2.470.014MVK, PMVK, FDPS, MVD
MetabolismNEW2.060.043MVK, FDPS, PMVK, MVD
Terpenoid backbone biosynthesis (hsa00900) -8.310.0MVK, FDPS, PMVK, MVD
Metabolic pathways (hsa01100) -2.490.013MVK, PMVK, FDPS, MVD
Metabolism of terpenoids and polyketidesNEW8.310.0MVK, PMVK, MVD, FDPS
Peroxisome (hsa04146) -6.340.012MVK, PMVK
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Metabolism of lipids and lipoproteinsR-HSA-5568333.794MVK, PMVK, MVD, FDPS
Regulation of cholesterol biosynthesis by SREBP (SREBF)R-HSA-16558297.234MVK, PMVK, FDPS, MVD
Cholesterol biosynthesisR-HSA-1912738.464MVK, PMVK, FDPS, MVD
MetabolismR-HSA-14307282.344MVK, PMVK, MVD, FDPS
Activation of gene expression by SREBF (SREBP)R-HSA-24261687.624MVK, PMVK, FDPS, MVD

NET-GE enrichment

Term New enriched termICP valueGenes
Cholesterol biosynthesis (R-HSA-191273) -8.460.0MVK, PMVK, FDPS, MVD
Regulation of cholesterol biosynthesis by SREBP (SREBF) (R-HSA-1655829) -7.230.0MVK, PMVK, FDPS, MVD
Activation of gene expression by SREBF (SREBP) (R-HSA-2426168) -7.620.0MVK, PMVK, MVD, FDPS
Metabolism (R-HSA-1430728) -2.340.018MVK, PMVK, FDPS, MVD
Metabolism of lipids and lipoproteins (R-HSA-556833) -3.790.0MVK, PMVK, FDPS, MVD
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
organic cyclic compound binding (GO:0097159) 1.055MVK, FDPS, PMVK, SART3, MVD
binding (GO:0005488) 0.185MVK, FDPS, PMVK, SART3, MVD
heterocyclic compound binding (GO:1901363) 1.065MVK, PMVK, FDPS, MVD, SART3
small molecule binding (GO:0036094) 1.894MVK, PMVK, SART3, MVD
catalytic activity (GO:0003824) 1.054MVK, FDPS, PMVK, MVD
nucleoside phosphate binding (GO:1901265) 1.964MVK, PMVK, MVD, SART3
nucleotide binding (GO:0000166) 1.964MVK, PMVK, MVD, SART3
adenyl nucleotide binding (GO:0030554) 2.43MVK, MVD, PMVK
purine ribonucleoside triphosphate binding (GO:0035639) 2.223MVK, MVD, PMVK
ribonucleotide binding (GO:0032553) 2.193MVK, MVD, PMVK
carbohydrate derivative binding (GO:0097367) 2.033MVK, MVD, PMVK
transferase activity (GO:0016740) 1.953MVK, PMVK, FDPS
adenyl ribonucleotide binding (GO:0032559) 2.413MVK, MVD, PMVK
ATP binding (GO:0005524) 2.433MVK, MVD, PMVK
protein binding (GO:0005515) 0.463MVK, MVD, SART3
ribonucleoside binding (GO:0032549) 2.223MVK, MVD, PMVK
purine ribonucleotide binding (GO:0032555) 2.23MVK, PMVK, MVD
purine nucleotide binding (GO:0017076) 2.193MVK, MVD, PMVK
purine ribonucleoside binding (GO:0032550) 2.223MVK, MVD, PMVK
purine nucleoside binding (GO:0001883) 2.223MVK, MVD, PMVK
nucleoside binding (GO:0001882) 2.213MVK, MVD, PMVK
transferase activity, transferring phosphorus-containing groups (GO:0016772) 2.772MVK, PMVK
poly(A) RNA binding (GO:0044822) 2.692FDPS, SART3
kinase activity (GO:0016301) 2.932MVK, PMVK
RNA binding (GO:0003723) 2.362FDPS, SART3
nucleic acid binding (GO:0003676) 1.442FDPS, SART3
identical protein binding (GO:0042802) 2.632MVK, MVD
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.266MVK, SLC17A9, SART3, PMVK, FDPS, MVD
single-organism cellular process (GO:0044763) 0.656MVK, SLC17A9, SART3, PMVK, FDPS, MVD
single-organism process (GO:0044699) 0.486MVK, SLC17A9, SART3, PMVK, FDPS, MVD
organic substance metabolic process (GO:0071704) 0.635MVK, PMVK, FDPS, SART3, MVD
cellular metabolic process (GO:0044237) 0.695MVK, PMVK, FDPS, MVD, SART3
metabolic process (GO:0008152) 0.585MVK, FDPS, PMVK, SART3, MVD
organic cyclic compound metabolic process (GO:1901360) 1.265MVK, FDPS, PMVK, SART3, MVD
primary metabolic process (GO:0044238) 0.695MVK, PMVK, FDPS, MVD, SART3
cellular biosynthetic process (GO:0044249) 1.374MVK, PMVK, MVD, FDPS
small molecule metabolic process (GO:0044281) 2.384MVK, FDPS, PMVK, MVD
small molecule biosynthetic process (GO:0044283) 3.794MVK, FDPS, MVD, PMVK
organic cyclic compound biosynthetic process (GO:1901362) 1.664MVK, FDPS, PMVK, MVD
regulation of biological process (GO:0050789) 0.454MVK, SLC17A9, MVD, SART3
organic substance biosynthetic process (GO:1901576) 1.344MVK, FDPS, MVD, PMVK
single-organism metabolic process (GO:0044710) 1.634MVK, FDPS, MVD, PMVK
single-organism biosynthetic process (GO:0044711) 2.84MVK, PMVK, FDPS, MVD
isoprenoid biosynthetic process (GO:0008299) 6.514MVK, PMVK, FDPS, MVD
biological regulation (GO:0065007) 0.394MVK, SLC17A9, MVD, SART3
lipid biosynthetic process (GO:0008610) 3.494MVK, PMVK, MVD, FDPS
sterol biosynthetic process (GO:0016126) 5.974MVK, PMVK, FDPS, MVD
phospholipid metabolic process (GO:0006644) 3.884MVK, PMVK, MVD, FDPS
sterol metabolic process (GO:0016125) 4.924MVK, PMVK, MVD, FDPS
lipid metabolic process (GO:0006629) 2.684MVK, FDPS, MVD, PMVK
isoprenoid metabolic process (GO:0006720) 4.894MVK, PMVK, FDPS, MVD
alcohol biosynthetic process (GO:0046165) 5.544MVK, PMVK, MVD, FDPS
secondary alcohol biosynthetic process (GO:1902653) 6.094MVK, PMVK, FDPS, MVD
secondary alcohol metabolic process (GO:1902652) 5.04MVK, PMVK, FDPS, MVD
biosynthetic process (GO:0009058) 1.324MVK, PMVK, MVD, FDPS
cellular lipid metabolic process (GO:0044255) 2.924MVK, FDPS, MVD, PMVK
organophosphate biosynthetic process (GO:0090407) 3.674MVK, PMVK, FDPS, MVD
steroid metabolic process (GO:0008202) 4.324MVK, FDPS, PMVK, MVD
cholesterol metabolic process (GO:0008203) 5.034MVK, PMVK, MVD, FDPS
phospholipid biosynthetic process (GO:0008654) 4.394MVK, FDPS, PMVK, MVD
alcohol metabolic process (GO:0006066) 4.24MVK, PMVK, MVD, FDPS
phosphate-containing compound metabolic process (GO:0006796) 2.164MVK, FDPS, MVD, PMVK
cholesterol biosynthetic process (GO:0006695) 6.094MVK, PMVK, MVD, FDPS
steroid biosynthetic process (GO:0006694) 5.064MVK, FDPS, PMVK, MVD
phosphorus metabolic process (GO:0006793) 2.154MVK, PMVK, FDPS, MVD
organophosphate metabolic process (GO:0019637) 3.044MVK, PMVK, FDPS, MVD
organic hydroxy compound biosynthetic process (GO:1901617) 4.984MVK, PMVK, MVD, FDPS
organic hydroxy compound metabolic process (GO:1901615) 3.844MVK, FDPS, PMVK, MVD
acetyl-CoA metabolic process (GO:0006084) 6.473MVK, MVD, PMVK
thioester metabolic process (GO:0035383) 5.313MVK, MVD, PMVK
cofactor metabolic process (GO:0051186) 3.913MVK, MVD, PMVK
acyl-CoA metabolic process (GO:0006637) 5.313MVK, PMVK, MVD
coenzyme metabolic process (GO:0006732) 4.143MVK, MVD, PMVK
isopentenyl diphosphate biosynthetic process (GO:0009240) 8.633MVK, MVD, PMVK
regulation of cellular process (GO:0050794) 0.53SLC17A9, MVD, SART3
isopentenyl diphosphate metabolic process (GO:0046490) 8.343MVK, MVD, PMVK
sulfur compound metabolic process (GO:0006790) 3.873MVK, PMVK, MVD
positive regulation of biological process (GO:0048518) 1.23SLC17A9, MVD, SART3
isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287) 8.633MVK, MVD, PMVK
positive regulation of cellular process (GO:0048522) 1.33SLC17A9, MVD, SART3
positive regulation of cellular component organization (GO:0051130) 2.682SLC17A9, SART3
phosphorylation (GO:0016310) 2.632MVK, PMVK
regulation of cellular component organization (GO:0051128) 2.012SLC17A9, SART3
positive regulation of organelle organization (GO:0010638) 3.382SLC17A9, SART3
regulation of organelle organization (GO:0033043) 2.722SLC17A9, SART3

NET-GE enrichment

Term New enriched termICP valueGenes
acyl-CoA metabolic process (GO:0006637) -5.310.0MVK, MVD, PMVK
coenzyme metabolic process (GO:0006732) -4.140.004MVK, PMVK, MVD
thioester metabolic process (GO:0035383) -5.310.0MVK, MVD, PMVK
isopentenyl diphosphate metabolic process (GO:0046490) -8.340.0MVK, MVD, PMVK
small molecule biosynthetic process (GO:0044283) -3.790.0MVK, PMVK, MVD, FDPS
isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287) -8.630.0MVK, PMVK, MVD
cofactor metabolic process (GO:0051186) -3.910.009MVK, PMVK, MVD
sulfur compound metabolic process (GO:0006790) -3.870.014MVK, MVD, PMVK
lipid biosynthetic process (GO:0008610) -3.490.001MVK, FDPS, PMVK, MVD
sterol biosynthetic process (GO:0016126) -5.970.0MVK, FDPS, PMVK, MVD
phospholipid metabolic process (GO:0006644) -3.880.008MVK, FDPS, MVD, PMVK
sterol metabolic process (GO:0016125) -4.920.0MVK, PMVK, MVD, FDPS
lipid metabolic process (GO:0006629) -2.680.027MVK, PMVK, FDPS, MVD
isoprenoid metabolic process (GO:0006720) -4.890.018MVK, MVD, FDPS
alcohol biosynthetic process (GO:0046165) -5.540.0MVK, FDPS, MVD, PMVK
isopentenyl diphosphate biosynthetic process (GO:0009240) -8.630.0MVK, MVD, PMVK
single-organism biosynthetic process (GO:0044711) -2.80.031MVK, PMVK, FDPS, MVD
cellular lipid metabolic process (GO:0044255) -2.920.009MVK, PMVK, MVD, FDPS
organophosphate biosynthetic process (GO:0090407) -3.670.001MVK, FDPS, PMVK, MVD
steroid metabolic process (GO:0008202) -4.320.0MVK, FDPS, MVD, PMVK
cholesterol metabolic process (GO:0008203) -5.030.0MVK, FDPS, PMVK, MVD
acetyl-CoA metabolic process (GO:0006084) -6.470.0MVK, MVD, PMVK
phospholipid biosynthetic process (GO:0008654) -4.390.001MVK, FDPS, PMVK, MVD
alcohol metabolic process (GO:0006066) -4.20.018MVK, FDPS, MVD, PMVK
isoprenoid biosynthetic process (GO:0008299) -6.510.0MVK, MVD, FDPS
cholesterol biosynthetic process (GO:0006695) -6.090.0MVK, PMVK, MVD, FDPS
steroid biosynthetic process (GO:0006694) -5.060.0MVK, FDPS, MVD, PMVK
organic hydroxy compound biosynthetic process (GO:1901617) -4.980.001MVK, PMVK, MVD, FDPS
organic hydroxy compound metabolic process (GO:1901615) -3.840.001MVK, FDPS, PMVK, MVD
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.285MVK, PMVK, FDPS, MVD, SART3
cell part (GO:0044464) 0.115MVK, PMVK, FDPS, SART3, MVD
cytoplasm (GO:0005737) 1.014MVK, PMVK, FDPS, SART3
intracellular membrane-bounded organelle (GO:0043231) 0.64MVK, PMVK, MVD, SART3
cytosol (GO:0005829) 1.684MVK, FDPS, PMVK, MVD
cytoplasmic part (GO:0044444) 0.824MVK, FDPS, PMVK, MVD
intracellular organelle (GO:0043229) 0.514MVK, PMVK, SART3, MVD
membrane-bounded organelle (GO:0043227) 0.474MVK, PMVK, MVD, SART3
organelle (GO:0043226) 0.44MVK, PMVK, MVD, SART3
microbody (GO:0042579) 4.933MVK, MVD, PMVK
membrane (GO:0016020) 0.683SLC17A9, PMVK, FDPS
peroxisome (GO:0005777) 5.013MVK, PMVK, MVD
intracellular organelle part (GO:0044446) 0.812FDPS, SART3
extracellular organelle (GO:0043230) 1.892MVK, PMVK
extracellular exosome (GO:0070062) 1.892MVK, PMVK
integral component of membrane (GO:0016021) 1.142SLC17A9, FDPS
membrane-bounded vesicle (GO:0031988) 1.712MVK, PMVK
nucleoplasm (GO:0005654) 1.892FDPS, SART3
nuclear part (GO:0044428) 1.552FDPS, SART3
organelle part (GO:0044422) 0.792FDPS, SART3
membrane part (GO:0044425) 0.952SLC17A9, FDPS
extracellular vesicle (GO:1903561) 1.892MVK, PMVK
extracellular region part (GO:0044421) 1.572MVK, PMVK
intrinsic component of membrane (GO:0031224) 1.132SLC17A9, FDPS
vesicle (GO:0031982) 1.642MVK, PMVK