Disease table of VON HIPPEL-LINDAU SYNDROME OMIM ID: 193300

Gene-disease associations table

GeneAssociated with VON HIPPEL-LINDAU SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CCND1OMIMHGNC link11q13.33193300, 254500, 114500
VHLClinVar, OMIM, HUMSAVARHGNC link3p25.34193300, 144700, PS133100, 171300

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
VHLYES18CA9, STRA13, TCF4, TFRC, ANGPT2, CXCR4, CCND1, DAB2, KLF10, CDKN1C, CA12, TP53, NMU, HIF1A, SPARC, VEGFA, IGF1R, CDKN1B1CCND1
HIF1ANO80RORA, SERPINE1, MICA, MET, WASF3, PLAU, AR, TWIST1, FAM162A, MMP2, SLC2A1, PFKFB4, EDN1, PGK1, LOX, HBEGF, FGF2, SETD2, XPC, ACE, MDK, ACE2, ERCC2, GCK, TLR2, ALOX5AP, LDHA, CXCR4, SOCS1, PPP1R3C, EDNRB, EGLN1, ALDOA, SLC29A1, AGTR1, PFKFB3, LEP, PPARA, ENO1, VHL, TWIST2, E2F3, PTGES, GAPDH, BID, MIF, CA9, CDH1, TIMP2, VIM, ALAS2, ITGB2, NT5E, CTGF, TLR6, CCR7, VEGFB, APEX1, MUC3A, EPO, MUC1, TFRC, BAX, ABCB1, NR3C1, BNIP3, RECK, TGFB3, ASS1, NR4A1, MYOCD, EGLN3, TERT, SDHB, BACE1, ZNF217, CCND1, VEGFA, CXCL12, HIF1A2VHL, CCND1
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
CCND1YES62POU4F2, RELA, E2F4, MYBL2, AR, MECP2, PML, BHLHE41, EZH2, ATF2, PGR, JUND, FOS, PAX5, STAT5B, RUNX3, RNF14, POU2F1, EGR1, EP300, KLF4, HOXA1, STAT5A, CTNNB1, BRCA1, ESR1, SIRT1, VHL, SP1, KLF6, LEF1, HDAC1, KDM4B, NKX3-1, SOX2, HOXB7, JUN, ZNF24, TP53, NANOG, E2F8, NELFCD, NFKB1, E2F1, FHL2, STAT3, TCF4, BTG2, NR3C1, SP4, TSC22D3, SNIP1, HEXIM1, ING4, LIN28A, HIF1A, SMARCA4, SP3, MYC, PPARG, KLF5, SOX61VHL
VHLYES1HIF1A0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
CCND1VHLNo13SP1, KAT2B, AR, HSPA8, RBX1, CDK2, HDAC1, HDAC2, ELAVL1, HDAC3, MCM7, CDKN2A, EP300

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
CCND1VHLYesexpression, activation, binding18SP1, KAT2B, AR, RBX1, EP300, HDAC1, HDAC2, RPS27A, ELAVL1, MYC, CDH1, ATF4, TP53, UBC, UBB, PSMC3, GSK3B, UBA52

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
Pathways in cancerhsa052003.982VHL, CCND1

NET-GE enrichment

Term New enriched termICP valueGenes
Renal cell carcinoma (hsa05211) NEW6.60.02VHL, CCND1
Small cell lung cancer (hsa05222) NEW6.170.042VHL, CCND1
REACTOME pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Epigenetic regulation of gene expression (R-HSA-212165) NEW6.460.042VHL, CCND1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
transcription factor binding (GO:0008134) 3.462VHL, CCND1
enzyme binding (GO:0019899) 2.272VHL, CCND1
catalytic activity (GO:0003824) 1.052VHL, CCND1
transferase activity (GO:0016740) 1.952VHL, CCND1
binding (GO:0005488) 0.182VHL, CCND1
protein binding (GO:0005515) 0.462VHL, CCND1

NET-GE enrichment

Term New enriched termICP valueGenes
transcription factor binding (GO:0008134) -3.460.017VHL, CCND1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.362VHL, CCND1
negative regulation of metabolic process (GO:0009892) 1.932VHL, CCND1
positive regulation of metabolic process (GO:0009893) 1.742VHL, CCND1
regulation of metabolic process (GO:0019222) 1.022VHL, CCND1
negative regulation of cellular biosynthetic process (GO:0031327) 2.492VHL, CCND1
regulation of cellular biosynthetic process (GO:0031326) 1.382VHL, CCND1
positive regulation of cellular metabolic process (GO:0031325) 1.812VHL, CCND1
negative regulation of cellular metabolic process (GO:0031324) 2.012VHL, CCND1
regulation of cellular metabolic process (GO:0031323) 1.072VHL, CCND1
negative regulation of gene expression (GO:0010629) 2.482VHL, CCND1
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472VHL, CCND1
regulation of cell differentiation (GO:0045595) 2.422VHL, CCND1
regulation of biological process (GO:0050789) 0.452VHL, CCND1
single-organism process (GO:0044699) 0.482VHL, CCND1
regulation of primary metabolic process (GO:0080090) 1.082VHL, CCND1
cellular protein metabolic process (GO:0044267) 1.632VHL, CCND1
cellular response to stimulus (GO:0051716) 1.972VHL, CCND1
negative regulation of macromolecule metabolic process (GO:0010605) 2.012VHL, CCND1
positive regulation of macromolecule metabolic process (GO:0010604) 1.812VHL, CCND1
cellular macromolecule metabolic process (GO:0044260) 0.932VHL, CCND1
negative regulation of transcription from RNA polymerase II promoter (GO:0000122) 3.122VHL, CCND1
cellular developmental process (GO:0048869) 1.822VHL, CCND1
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462VHL, CCND1
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.62VHL, CCND1
organic substance metabolic process (GO:0071704) 0.632VHL, CCND1
regulation of macromolecule biosynthetic process (GO:0010556) 1.432VHL, CCND1
biological regulation (GO:0065007) 0.392VHL, CCND1
positive regulation of biological process (GO:0048518) 1.22VHL, CCND1
negative regulation of biological process (GO:0048519) 1.332VHL, CCND1
regulation of biological quality (GO:0065008) 1.682VHL, CCND1
regulation of gene expression (GO:0010468) 1.372VHL, CCND1
negative regulation of biosynthetic process (GO:0009890) 2.472VHL, CCND1
regulation of cell proliferation (GO:0042127) 2.412VHL, CCND1
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552VHL, CCND1
primary metabolic process (GO:0044238) 0.692VHL, CCND1
regulation of macromolecule metabolic process (GO:0060255) 1.082VHL, CCND1
cellular process (GO:0009987) 0.262VHL, CCND1
regulation of biosynthetic process (GO:0009889) 1.372VHL, CCND1
regulation of nucleic acid-templated transcription (GO:1903506) 1.552VHL, CCND1
regulation of cellular process (GO:0050794) 0.52VHL, CCND1
negative regulation of RNA biosynthetic process (GO:1902679) 2.72VHL, CCND1
response to stress (GO:0006950) 1.82VHL, CCND1
protein modification process (GO:0036211) 1.792VHL, CCND1
negative regulation of transcription, DNA-templated (GO:0045892) 2.752VHL, CCND1
cellular protein modification process (GO:0006464) 1.792VHL, CCND1
metabolic process (GO:0008152) 0.582VHL, CCND1
regulation of RNA biosynthetic process (GO:2001141) 1.552VHL, CCND1
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.712VHL, CCND1
negative regulation of RNA metabolic process (GO:0051253) 2.662VHL, CCND1
single-organism developmental process (GO:0044767) 1.492VHL, CCND1
protein metabolic process (GO:0019538) 1.452VHL, CCND1
response to stimulus (GO:0050896) 1.222VHL, CCND1
regulation of RNA metabolic process (GO:0051252) 1.522VHL, CCND1
macromolecule modification (GO:0043412) 1.732VHL, CCND1
cellular metabolic process (GO:0044237) 0.692VHL, CCND1
macromolecule metabolic process (GO:0043170) 0.832VHL, CCND1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432VHL, CCND1
regulation of transcription, DNA-templated (GO:0006355) 1.562VHL, CCND1
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242VHL, CCND1
cellular response to stress (GO:0033554) 2.512VHL, CCND1
single-organism cellular process (GO:0044763) 0.652VHL, CCND1
positive regulation of cellular process (GO:0048522) 1.32VHL, CCND1
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.532VHL, CCND1
negative regulation of cellular process (GO:0048523) 1.412VHL, CCND1
regulation of nitrogen compound metabolic process (GO:0051171) 1.362VHL, CCND1

NET-GE enrichment

Term New enriched termICP valueGenes
lactation (GO:0007595) NEW5.970.048VHL, CCND1
response to glucagon (GO:0033762) NEW5.840.032VHL, CCND1
regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618) NEW5.60.028VHL, CCND1
mitotic DNA damage checkpoint (GO:0044773) NEW6.20.021VHL, CCND1
mitotic DNA integrity checkpoint (GO:0044774) NEW6.040.029VHL, CCND1
regulation of DNA-templated transcription in response to stress (GO:0043620) NEW5.520.041VHL, CCND1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012VHL, CCND1
protein complex (GO:0043234) 1.512VHL, CCND1
cytosol (GO:0005829) 1.682VHL, CCND1
macromolecular complex (GO:0032991) 1.352VHL, CCND1
catalytic complex (GO:1902494) 2.92VHL, CCND1
cytoplasmic part (GO:0044444) 0.822VHL, CCND1
nucleus (GO:0005634) 1.072VHL, CCND1
membrane (GO:0016020) 0.682VHL, CCND1
cell part (GO:0044464) 0.112VHL, CCND1
intracellular organelle part (GO:0044446) 0.812VHL, CCND1
nucleoplasm (GO:0005654) 1.892VHL, CCND1
intracellular organelle (GO:0043229) 0.512VHL, CCND1
nuclear part (GO:0044428) 1.552VHL, CCND1
transferase complex (GO:1990234) 3.322VHL, CCND1
intracellular part (GO:0044424) 0.282VHL, CCND1
membrane-bounded organelle (GO:0043227) 0.472VHL, CCND1
organelle (GO:0043226) 0.42VHL, CCND1
organelle part (GO:0044422) 0.792VHL, CCND1
intracellular membrane-bounded organelle (GO:0043231) 0.62VHL, CCND1

NET-GE enrichment

Term New enriched termICP valueGenes
lamellipodium (GO:0030027) NEW4.730.048VHL, CCND1
ubiquitin ligase complex (GO:0000151) NEW4.230.038VHL, CCND1