Disease table of LIPODYSTROPHY, CONGENITAL GENERALIZED OMIM ID: PS608594

Gene-disease associations table

GeneAssociated with LIPODYSTROPHY, CONGENITAL GENERALIZED inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PTRFClinVar, OMIMHGNC link17q21.21PS608594
CAV1ClinVar, OMIMHGNC link7q31.23606721, PS178600, PS608594
AGPAT2ClinVar, OMIM, HUMSAVARHGNC link9q34.31PS608594
BSCL2ClinVar, OMIM, HUMSAVARHGNC link11q12.34PS608594, PS303350, 600794, 615924

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
CAV1YES6SP1, GATA6, SREBF1, TFDP1, TP53, PPARG0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PTRFCAV1Yes19GOLT1B, BMPR1A, FLOT2, C1QBP, PTPN1, RMDN3, PTPN23, CHMP4B, RAB5C, MMGT1, TMED2, YIPF5, TMEM63B, EGFR, RAB2A, RAB7A, MBOAT1, VAPA, DBN1

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
PTRFCAV1Yesactivation, binding2UBC, EGFR
PTRFAGPAT2No-1UBC
PTRFBSCL2No-1UBC
CAV1AGPAT2No-1UBC
CAV1BSCL2No-1UBC
AGPAT2BSCL2No-1UBC

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

Interactions from CORUM
Interactions from CENSUS
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PTRFCAV1Yes0

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

Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Metabolism of lipids and lipoproteinsR-HSA-5568333.792CAV1, AGPAT2
MetabolismR-HSA-14307282.342CAV1, AGPAT2
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183CAV1, BSCL2, PTRF
protein binding (GO:0005515) 0.463CAV1, BSCL2, PTRF
organic cyclic compound binding (GO:0097159) 1.052CAV1, PTRF
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
primary metabolic process (GO:0044238) 0.694CAV1, BSCL2, AGPAT2, PTRF
cellular process (GO:0009987) 0.264CAV1, BSCL2, AGPAT2, PTRF
organic substance metabolic process (GO:0071704) 0.634CAV1, BSCL2, AGPAT2, PTRF
biological regulation (GO:0065007) 0.394CAV1, BSCL2, AGPAT2, PTRF
metabolic process (GO:0008152) 0.584CAV1, BSCL2, AGPAT2, PTRF
regulation of biological process (GO:0050789) 0.454CAV1, BSCL2, AGPAT2, PTRF
single-organism metabolic process (GO:0044710) 1.633CAV1, BSCL2, AGPAT2
lipid metabolic process (GO:0006629) 2.683CAV1, BSCL2, AGPAT2
regulation of metabolic process (GO:0019222) 1.023CAV1, BSCL2, PTRF
cellular metabolic process (GO:0044237) 0.693CAV1, AGPAT2, PTRF
regulation of cellular process (GO:0050794) 0.53CAV1, AGPAT2, PTRF
single-organism cellular process (GO:0044763) 0.653CAV1, BSCL2, AGPAT2
single-organism process (GO:0044699) 0.483CAV1, BSCL2, AGPAT2
regulation of primary metabolic process (GO:0080090) 1.083CAV1, BSCL2, PTRF
regulation of catabolic process (GO:0009894) 3.522CAV1, BSCL2
regulation of RNA metabolic process (GO:0051252) 1.522CAV1, PTRF
negative regulation of metabolic process (GO:0009892) 1.932CAV1, BSCL2
regulation of cellular biosynthetic process (GO:0031326) 1.382CAV1, PTRF
acylglycerol metabolic process (GO:0006639) 5.272CAV1, AGPAT2
neutral lipid metabolic process (GO:0006638) 5.262CAV1, AGPAT2
regulation of response to stimulus (GO:0048583) 1.542CAV1, AGPAT2
positive regulation of signaling (GO:0023056) 2.412CAV1, AGPAT2
cellular biosynthetic process (GO:0044249) 1.372AGPAT2, PTRF
regulation of response to cytokine stimulus (GO:0060759) 4.772CAV1, AGPAT2
lipid storage (GO:0019915) 6.42CAV1, BSCL2
positive regulation of cell communication (GO:0010647) 2.412CAV1, AGPAT2
regulation of cell communication (GO:0010646) 1.732CAV1, AGPAT2
cellular lipid metabolic process (GO:0044255) 2.922CAV1, AGPAT2
maintenance of location (GO:0051235) 4.772CAV1, BSCL2
cellular component organization or biogenesis (GO:0071840) 1.222CAV1, BSCL2
organic substance biosynthetic process (GO:1901576) 1.342AGPAT2, PTRF
cellular macromolecule metabolic process (GO:0044260) 0.932CAV1, PTRF
regulation of signal transduction (GO:0009966) 1.842CAV1, AGPAT2
positive regulation of signal transduction (GO:0009967) 2.52CAV1, AGPAT2
positive regulation of multicellular organismal process (GO:0051240) 2.492CAV1, AGPAT2
triglyceride metabolic process (GO:0006641) 5.412CAV1, AGPAT2
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462CAV1, PTRF
cellular component organization (GO:0016043) 1.242CAV1, BSCL2
regulation of signaling (GO:0023051) 1.722CAV1, AGPAT2
regulation of macromolecule metabolic process (GO:0060255) 1.082CAV1, PTRF
cellular developmental process (GO:0048869) 1.822CAV1, BSCL2
positive regulation of biological process (GO:0048518) 1.22CAV1, AGPAT2
negative regulation of biological process (GO:0048519) 1.332CAV1, BSCL2
regulation of biological quality (GO:0065008) 1.682CAV1, BSCL2
regulation of gene expression (GO:0010468) 1.372CAV1, PTRF
developmental process (GO:0032502) 1.362CAV1, AGPAT2
positive regulation of response to stimulus (GO:0048584) 2.182CAV1, AGPAT2
regulation of lipid metabolic process (GO:0019216) 4.082CAV1, BSCL2
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432CAV1, PTRF
regulation of cellular metabolic process (GO:0031323) 1.072CAV1, PTRF
regulation of biosynthetic process (GO:0009889) 1.372CAV1, PTRF
tissue development (GO:0009888) 3.272CAV1, AGPAT2
regulation of nucleic acid-templated transcription (GO:1903506) 1.552CAV1, PTRF
biosynthetic process (GO:0009058) 1.322AGPAT2, PTRF
regulation of nitrogen compound metabolic process (GO:0051171) 1.362CAV1, PTRF
regulation of multicellular organismal process (GO:0051239) 1.872CAV1, AGPAT2
regulation of RNA biosynthetic process (GO:2001141) 1.552CAV1, PTRF
response to chemical (GO:0042221) 1.982CAV1, AGPAT2
glycerolipid metabolic process (GO:0046486) 3.912CAV1, AGPAT2
localization (GO:0051179) 1.42CAV1, BSCL2
organelle organization (GO:0006996) 2.022CAV1, BSCL2
regulation of cytokine-mediated signaling pathway (GO:0001959) 4.822CAV1, AGPAT2
response to stimulus (GO:0050896) 1.222CAV1, AGPAT2
anatomical structure development (GO:0048856) 1.582CAV1, AGPAT2
response to drug (GO:0042493) 3.712CAV1, AGPAT2
macromolecule metabolic process (GO:0043170) 0.832CAV1, PTRF
regulation of transcription, DNA-templated (GO:0006355) 1.562CAV1, PTRF
phosphate-containing compound metabolic process (GO:0006796) 2.162CAV1, AGPAT2
regulation of macromolecule biosynthetic process (GO:0010556) 1.432CAV1, PTRF
phosphorus metabolic process (GO:0006793) 2.152CAV1, AGPAT2
cell differentiation (GO:0030154) 2.142CAV1, BSCL2
positive regulation of cellular process (GO:0048522) 1.32CAV1, AGPAT2

NET-GE enrichment

Term New enriched termICP valueGenes
lipid storage (GO:0019915) -6.40.05CAV1, BSCL2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.64CAV1, BSCL2, AGPAT2, PTRF
membrane (GO:0016020) 0.684CAV1, BSCL2, AGPAT2, PTRF
cell part (GO:0044464) 0.114CAV1, BSCL2, AGPAT2, PTRF
cytoplasmic part (GO:0044444) 0.824CAV1, BSCL2, AGPAT2, PTRF
intracellular organelle part (GO:0044446) 0.814CAV1, BSCL2, AGPAT2, PTRF
intracellular organelle (GO:0043229) 0.514CAV1, BSCL2, AGPAT2, PTRF
intracellular part (GO:0044424) 0.284CAV1, BSCL2, AGPAT2, PTRF
membrane part (GO:0044425) 0.954CAV1, BSCL2, AGPAT2, PTRF
membrane-bounded organelle (GO:0043227) 0.474CAV1, BSCL2, AGPAT2, PTRF
organelle (GO:0043226) 0.44CAV1, BSCL2, AGPAT2, PTRF
organelle part (GO:0044422) 0.794CAV1, BSCL2, AGPAT2, PTRF
endoplasmic reticulum (GO:0005783) 2.564CAV1, BSCL2, AGPAT2, PTRF
endoplasmic reticulum part (GO:0044432) 2.733CAV1, BSCL2, AGPAT2
integral component of membrane (GO:0016021) 1.143CAV1, BSCL2, AGPAT2
intrinsic component of membrane (GO:0031224) 1.133CAV1, BSCL2, AGPAT2
endoplasmic reticulum membrane (GO:0005789) 2.953CAV1, BSCL2, AGPAT2
cytoplasm (GO:0005737) 1.012CAV1, PTRF
plasma membrane region (GO:0098590) 2.972CAV1, PTRF
membrane raft (GO:0045121) 4.182CAV1, PTRF
macromolecular complex (GO:0032991) 1.352CAV1, PTRF
cytosol (GO:0005829) 1.682CAV1, PTRF
membrane region (GO:0098589) 3.952CAV1, PTRF
mitochondrion (GO:0005739) 2.422CAV1, PTRF
caveola (GO:0005901) 5.552CAV1, PTRF
plasma membrane (GO:0005886) 1.392CAV1, PTRF
protein complex (GO:0043234) 1.512CAV1, PTRF
plasma membrane raft (GO:0044853) 5.422CAV1, PTRF
membrane microdomain (GO:0098857) 4.172CAV1, PTRF
plasma membrane part (GO:0044459) 1.952CAV1, PTRF

NET-GE enrichment

Term New enriched termICP valueGenes
caveola (GO:0005901) -5.550.043CAV1, PTRF
membrane raft (GO:0045121) -4.180.043CAV1, PTRF
endoplasmic reticulum (GO:0005783) -2.560.02CAV1, AGPAT2, PTRF