Disease table of BASAL CELL NEVUS SYNDROME OMIM ID: 109400

Gene-disease associations table

GeneAssociated with BASAL CELL NEVUS SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PTCH2ClinVar, OMIMHGNC link1p34.13605462, 109400, 155255
PTCH1ClinVar, OMIM, HUMSAVARHGNC link9q22.324605462, 109400, PS142623, PS236100
SUFUClinVar, OMIMHGNC link10q24.323607174, 155255, 109400

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Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PTCH2PTCH1No1SMO

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
PTCH2PTCH1No-9DHH, BMP2, BMP4, SMO, GLI2, GLI1, IHH, GLI3, SHH
PTCH2SUFUNo-4SMO, GLI3, GLI2, GLI1
PTCH1SUFUNo-4GLI3, SMO, GLI1, GLI2

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
Gene1Gene2Direct interactionMore information
PTCH1PTCH2maybe, indirectThey are homologos, part ofthe patched gene family. [UniProt]
PTCH1SUFUmaybe, indirectSUFU ia negative regulator in the hedgehog signaling pathway, in which PTCH1 has a role. [UniProt]
PTCH2SUFUmaybe, indirectSUFU ia negative regulator in the hedgehog signaling pathway, in which PTCH2 has a role. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Hedgehog signaling pathwayhsa043407.013PTCH2, PTCH1, SUFU
Pathways in cancerhsa052003.983PTCH2, PTCH1, SUFU
Basal cell carcinomahsa052176.793PTCH2, PTCH1, SUFU

NET-GE enrichment

Term New enriched termICP valueGenes
Cancers: OverviewNEW2.720.039PTCH2, PTCH1, SUFU
Cancers: Specific typesNEW4.10.002PTCH2, PTCH1, SUFU
Hedgehog signaling pathway (hsa04340) -7.010.0PTCH2, PTCH1, SUFU
Pathways in cancer (hsa05200) -3.980.003PTCH2, PTCH1, SUFU
Basal cell carcinoma (hsa05217) -6.790.0PTCH2, PTCH1, SUFU
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Signal TransductionR-HSA-1625821.783PTCH2, PTCH1, SUFU
Class B/2 (Secretin family receptors)R-HSA-3730806.522PTCH2, PTCH1
Hedgehog 'off' stateR-HSA-56107876.192SUFU, PTCH1
Signaling by GPCRR-HSA-3727902.682PTCH2, PTCH1
Hedgehog 'on' stateR-HSA-56326846.622SUFU, PTCH1
Signaling by HedgehogR-HSA-53583515.792SUFU, PTCH1
GPCR ligand bindingR-HSA-5007924.192PTCH2, PTCH1

NET-GE enrichment

Term New enriched termICP valueGenes
Class B/2 (Secretin family receptors) (R-HSA-373080) -6.520.004PTCH2, PTCH1
Hedgehog 'on' state (R-HSA-5632684) -6.620.004SUFU, PTCH1
Hedgehog 'off' state (R-HSA-5610787) -6.190.012SUFU, PTCH1
Signaling by Hedgehog (R-HSA-5358351) -5.790.031SUFU, PTCH1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein binding (GO:0005515) 0.463PTCH2, PTCH1, SUFU
signal transducer activity (GO:0004871) 2.283PTCH2, PTCH1, SUFU
binding (GO:0005488) 0.183PTCH2, PTCH1, SUFU
hedgehog family protein binding (GO:0097108) 8.642PTCH2, PTCH1
signaling receptor activity (GO:0038023) 2.492PTCH2, PTCH1
molecular transducer activity (GO:0060089) 2.322PTCH2, PTCH1
transmembrane signaling receptor activity (GO:0004888) 2.572PTCH2, PTCH1
receptor activity (GO:0004872) 2.322PTCH2, PTCH1
smoothened binding (GO:0005119) 8.642PTCH2, PTCH1
receptor binding (GO:0005102) 2.432PTCH2, PTCH1
hedgehog receptor activity (GO:0008158) 8.642PTCH2, PTCH1
transmembrane receptor activity (GO:0099600) 2.532PTCH2, PTCH1

NET-GE enrichment

Term New enriched termICP valueGenes
hedgehog family protein binding (GO:0097108) -8.640.0PTCH2, PTCH1
smoothened binding (GO:0005119) -8.640.0PTCH2, PTCH1
hedgehog receptor activity (GO:0008158) -8.640.0PTCH2, PTCH1
molecular transducer activity (GO:0060089) -2.320.03PTCH2, PTCH1, SUFU
signal transducer activity (GO:0004871) -2.280.03PTCH2, PTCH1, SUFU
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of smoothened signaling pathway (GO:0008589) 5.623PTCH2, PTCH1, SUFU
negative regulation of response to stimulus (GO:0048585) 2.523PTCH2, PTCH1, SUFU
regulation of response to stimulus (GO:0048583) 1.543PTCH2, PTCH1, SUFU
negative regulation of signaling (GO:0023057) 2.653PTCH2, PTCH1, SUFU
signal transduction (GO:0007165) 1.283PTCH2, PTCH1, SUFU
regulation of signaling (GO:0023051) 1.723PTCH2, PTCH1, SUFU
regulation of cell communication (GO:0010646) 1.733PTCH2, PTCH1, SUFU
regulation of biological process (GO:0050789) 0.453PTCH2, PTCH1, SUFU
single-organism process (GO:0044699) 0.483PTCH2, PTCH1, SUFU
negative regulation of signal transduction (GO:0009968) 2.753PTCH2, PTCH1, SUFU
regulation of signal transduction (GO:0009966) 1.843PTCH2, PTCH1, SUFU
animal organ development (GO:0048513) 2.533PTCH2, PTCH1, SUFU
biological regulation (GO:0065007) 0.393PTCH2, PTCH1, SUFU
negative regulation of biological process (GO:0048519) 1.333PTCH2, PTCH1, SUFU
developmental process (GO:0032502) 1.363PTCH2, PTCH1, SUFU
multicellular organismal process (GO:0032501) 1.453PTCH2, PTCH1, SUFU
regulation of developmental process (GO:0050793) 2.13PTCH2, PTCH1, SUFU
cellular process (GO:0009987) 0.263PTCH2, PTCH1, SUFU
negative regulation of smoothened signaling pathway (GO:0045879) 6.553PTCH2, PTCH1, SUFU
regulation of cellular process (GO:0050794) 0.53PTCH2, PTCH1, SUFU
regulation of cell differentiation (GO:0045595) 2.423PTCH2, PTCH1, SUFU
single-organism cellular process (GO:0044763) 0.653PTCH2, PTCH1, SUFU
regulation of multicellular organismal process (GO:0051239) 1.873PTCH2, PTCH1, SUFU
single-multicellular organism process (GO:0044707) 1.783PTCH2, PTCH1, SUFU
anatomical structure development (GO:0048856) 1.583PTCH2, PTCH1, SUFU
regulation of multicellular organismal development (GO:2000026) 2.313PTCH2, PTCH1, SUFU
negative regulation of cellular process (GO:0048523) 1.413PTCH2, PTCH1, SUFU
negative regulation of cell communication (GO:0010648) 2.663PTCH2, PTCH1, SUFU
regulation of primary metabolic process (GO:0080090) 1.082SUFU, PTCH1
regulation of metabolic process (GO:0019222) 1.022SUFU, PTCH1
regulation of transport (GO:0051049) 2.242SUFU, PTCH1
cell surface receptor signaling pathway (GO:0007166) 2.092SUFU, PTCH1
negative regulation of macromolecule metabolic process (GO:0010605) 2.012SUFU, PTCH1
cellular developmental process (GO:0048869) 1.822PTCH2, PTCH1
regulation of osteoblast differentiation (GO:0045667) 4.992SUFU, PTCH1
regulation of epithelial cell differentiation (GO:0030856) 4.962PTCH2, PTCH1
negative regulation of molecular function (GO:0044092) 2.742SUFU, PTCH1
positive regulation of biological process (GO:0048518) 1.22PTCH2, PTCH1
positive regulation of epithelial cell differentiation (GO:0030858) 5.762PTCH2, PTCH1
negative regulation of osteoblast differentiation (GO:0045668) 6.022SUFU, PTCH1
regulation of macromolecule metabolic process (GO:0060255) 1.082SUFU, PTCH1
regionalization (GO:0003002) 4.242SUFU, PTCH1
regulation of RNA biosynthetic process (GO:2001141) 1.552SUFU, PTCH1
negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433) 4.822SUFU, PTCH1
protein metabolic process (GO:0019538) 1.452SUFU, PTCH1
negative regulation of metabolic process (GO:0009892) 1.932SUFU, PTCH1
negative regulation of biosynthetic process (GO:0009890) 2.472SUFU, PTCH1
negative regulation of gene expression (GO:0010629) 2.482SUFU, PTCH1
anatomical structure morphogenesis (GO:0009653) 2.532SUFU, PTCH1
neural tube closure (GO:0001843) 5.382SUFU, PTCH1
regulation of biological quality (GO:0065008) 1.682SUFU, PTCH1
anatomical structure formation involved in morphogenesis (GO:0048646) 3.012SUFU, PTCH1
regulation of biosynthetic process (GO:0009889) 1.372SUFU, PTCH1
tissue development (GO:0009888) 3.272PTCH2, PTCH1
tube closure (GO:0060606) 5.362SUFU, PTCH1
metabolic process (GO:0008152) 0.582SUFU, PTCH1
regulation of ossification (GO:0030278) 4.532SUFU, PTCH1
negative regulation of ossification (GO:0030279) 5.482SUFU, PTCH1
epidermal cell fate specification (GO:0009957) 8.632PTCH2, PTCH1
single-organism developmental process (GO:0044767) 1.492SUFU, PTCH1
dorsal/ventral pattern formation (GO:0009953) 5.62SUFU, PTCH1
smoothened signaling pathway (GO:0007224) 5.452SUFU, PTCH1
regulation of transcription, DNA-templated (GO:0006355) 1.562SUFU, PTCH1
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242SUFU, PTCH1
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.532SUFU, PTCH1
negative regulation of multicellular organismal process (GO:0051241) 2.842SUFU, PTCH1
tube formation (GO:0035148) 4.982SUFU, PTCH1
epidermis development (GO:0008544) 5.042PTCH2, PTCH1
regulation of protein localization (GO:0032880) 2.882SUFU, PTCH1
negative regulation of transcription from RNA polymerase II promoter (GO:0000122) 3.122SUFU, PTCH1
cell fate specification (GO:0001708) 5.572PTCH2, PTCH1
cell fate determination (GO:0001709) 5.972PTCH2, PTCH1
epithelial tube morphogenesis (GO:0060562) 5.122SUFU, PTCH1
tube morphogenesis (GO:0035239) 4.352SUFU, PTCH1
regulation of molecular function (GO:0065009) 1.782SUFU, PTCH1
regulation of nucleic acid-templated transcription (GO:1903506) 1.552SUFU, PTCH1
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.712SUFU, PTCH1
positive regulation of cell differentiation (GO:0045597) 3.012PTCH2, PTCH1
negative regulation of cell differentiation (GO:0045596) 3.332SUFU, PTCH1
negative regulation of transcription, DNA-templated (GO:0045892) 2.752SUFU, PTCH1
proteolysis (GO:0006508) 2.732SUFU, PTCH1
regulation of localization (GO:0032879) 1.942SUFU, PTCH1
negative regulation of developmental process (GO:0051093) 3.172SUFU, PTCH1
regulation of sequence-specific DNA binding transcription factor activity (GO:0051090) 3.832SUFU, PTCH1
positive regulation of developmental process (GO:0051094) 2.772PTCH2, PTCH1
negative regulation of RNA metabolic process (GO:0051253) 2.662SUFU, PTCH1
regulation of RNA metabolic process (GO:0051252) 1.522SUFU, PTCH1
macromolecule metabolic process (GO:0043170) 0.832SUFU, PTCH1
system development (GO:0048731) 2.922SUFU, PTCH1
negative regulation of cellular biosynthetic process (GO:0031327) 2.492SUFU, PTCH1
regulation of cellular biosynthetic process (GO:0031326) 1.382SUFU, PTCH1
negative regulation of cellular metabolic process (GO:0031324) 2.012SUFU, PTCH1
regulation of cellular metabolic process (GO:0031323) 1.072SUFU, PTCH1
regulation of epidermis development (GO:0045682) 5.572PTCH2, PTCH1
multicellular organism development (GO:0007275) 2.542SUFU, PTCH1
positive regulation of epidermis development (GO:0045684) 6.262PTCH2, PTCH1
pattern specification process (GO:0007389) 3.792SUFU, PTCH1
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462SUFU, PTCH1
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.62SUFU, PTCH1
organic substance metabolic process (GO:0071704) 0.632SUFU, PTCH1
regulation of macromolecule biosynthetic process (GO:0010556) 1.432SUFU, PTCH1
positive regulation of epidermal cell differentiation (GO:0045606) 6.732PTCH2, PTCH1
tissue morphogenesis (GO:0048729) 3.872SUFU, PTCH1
regulation of epidermal cell differentiation (GO:0045604) 5.922PTCH2, PTCH1
regulation of gene expression (GO:0010468) 1.372SUFU, PTCH1
skin development (GO:0043588) 5.842PTCH2, SUFU
embryonic morphogenesis (GO:0048598) 3.722SUFU, PTCH1
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552SUFU, PTCH1
morphogenesis of an epithelium (GO:0002009) 4.082SUFU, PTCH1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432SUFU, PTCH1
negative regulation of RNA biosynthetic process (GO:1902679) 2.72SUFU, PTCH1
regulation of nitrogen compound metabolic process (GO:0051171) 1.362SUFU, PTCH1
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472SUFU, PTCH1
localization (GO:0051179) 1.42SUFU, PTCH1
single-organism localization (GO:1902578) 2.092SUFU, PTCH1
primary metabolic process (GO:0044238) 0.692SUFU, PTCH1
positive regulation of cellular process (GO:0048522) 1.32PTCH2, PTCH1

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of smoothened signaling pathway (GO:0008589) -5.620.0PTCH2, PTCH1, SUFU
tube morphogenesis (GO:0035239) -4.350.024SUFU, PTCH1
negative regulation of signal transduction (GO:0009968) -2.750.03PTCH2, PTCH1, SUFU
smoothened signaling pathway (GO:0007224) -5.450.012SUFU, PTCH1
negative regulation of osteoblast differentiation (GO:0045668) -6.020.037SUFU, PTCH1
negative regulation of smoothened signaling pathway (GO:0045879) -6.550.0PTCH2, PTCH1, SUFU
tube formation (GO:0035148) -4.980.03SUFU, PTCH1
tube closure (GO:0060606) -5.360.014SUFU, PTCH1
negative regulation of signaling (GO:0023057) -2.650.035PTCH2, PTCH1, SUFU
regulation of osteoblast differentiation (GO:0045667) -4.990.027SUFU, PTCH1
negative regulation of cell communication (GO:0010648) -2.660.035PTCH2, PTCH1, SUFU
epithelial tube morphogenesis (GO:0060562) -5.120.019SUFU, PTCH1
neural tube closure (GO:0001843) -5.380.013SUFU, PTCH1
epidermis development (GO:0008544) -5.040.034PTCH2, PTCH1
negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433) -4.820.036SUFU, PTCH1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
membrane (GO:0016020) 0.682PTCH2, PTCH1
primary cilium (GO:0072372) 4.642SUFU, PTCH1
intracellular membrane-bounded organelle (GO:0043231) 0.62SUFU, PTCH1
integral component of membrane (GO:0016021) 1.142PTCH2, PTCH1
cell projection part (GO:0044463) 2.972SUFU, PTCH1
cell part (GO:0044464) 0.112SUFU, PTCH1
cytoplasmic part (GO:0044444) 0.822SUFU, PTCH1
intracellular organelle part (GO:0044446) 0.812SUFU, PTCH1
intracellular organelle (GO:0043229) 0.512SUFU, PTCH1
organelle part (GO:0044422) 0.792SUFU, PTCH1
cilium (GO:0005929) 3.892SUFU, PTCH1
intracellular part (GO:0044424) 0.282SUFU, PTCH1
membrane part (GO:0044425) 0.952PTCH2, PTCH1
cell projection (GO:0042995) 2.472SUFU, PTCH1
membrane-bounded organelle (GO:0043227) 0.472SUFU, PTCH1
organelle (GO:0043226) 0.42SUFU, PTCH1
intrinsic component of membrane (GO:0031224) 1.132PTCH2, PTCH1
ciliary part (GO:0044441) 4.052SUFU, PTCH1

NET-GE enrichment

Term New enriched termICP valueGenes
primary cilium (GO:0072372) -4.640.003SUFU, PTCH1
cilium (GO:0005929) -3.890.017SUFU, PTCH1