Disease table of SCHIZENCEPHALY OMIM ID: 269160

Gene-disease associations table

GeneAssociated with SCHIZENCEPHALY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SHHOMIMHGNC link7q36.34PS300345, 269160, PS236100, 147250
EMX2OMIMHGNC link10q26.111269160
COL4A1HUMSAVARHGNC link13q346611773, 269160, PS175780, 607595, 614519, 180000
SIX3OMIM, HUMSAVARHGNC link2p213269160, PS236100, 147250

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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
SHHYES3STAT3, PAX3, SOX90
EMX2YES2HOXA10, PBX20
COL4A1YES1LMX1B0
SIX3YES2PAX6, PROX10
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
SHHEMX2No-3WNT1, FGF8, EGFR
SHHCOL4A1No-2BMP2, BMP4
SHHSIX3Yesactivation, binding7SALL1, PITX2, PLP1, POU3F4, BMP4, WNT1, PAX6
EMX2SIX3No-1WNT1
COL4A1SIX3No-1BMP4

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 (no NET-GE enrichment)

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Pathways in cancerhsa052003.982SHH, COL4A1
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Signal TransductionR-HSA-1625821.782SHH, COL4A1

NET-GE enrichment

Term New enriched termICP valueGenes
Anchoring fibril formation (R-HSA-2214320) NEW9.080.002SHH, COL4A1
Regulation of beta-cell development (R-HSA-186712) NEW7.980.04SHH, EMX2
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.184SHH, COL4A1, EMX2, SIX3
protein binding (GO:0005515) 0.464SHH, COL4A1, EMX2, SIX3
sequence-specific DNA binding (GO:0043565) 2.792SIX3, EMX2
organic cyclic compound binding (GO:0097159) 1.052SIX3, EMX2
heterocyclic compound binding (GO:1901363) 1.062SIX3, EMX2
nucleic acid binding (GO:0003676) 1.442SIX3, EMX2
DNA binding (GO:0003677) 1.922SIX3, EMX2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.364SHH, COL4A1, EMX2, SIX3
pattern specification process (GO:0007389) 3.794SHH, COL4A1, EMX2, SIX3
multicellular organismal process (GO:0032501) 1.454SHH, COL4A1, EMX2, SIX3
single-multicellular organism process (GO:0044707) 1.784SHH, COL4A1, EMX2, SIX3
cellular developmental process (GO:0048869) 1.824SHH, COL4A1, EMX2, SIX3
anatomical structure development (GO:0048856) 1.584SHH, COL4A1, EMX2, SIX3
single-organism developmental process (GO:0044767) 1.494SHH, COL4A1, EMX2, SIX3
animal organ development (GO:0048513) 2.534SHH, COL4A1, EMX2, SIX3
single-organism cellular process (GO:0044763) 0.654SHH, COL4A1, EMX2, SIX3
cell differentiation (GO:0030154) 2.144SHH, COL4A1, EMX2, SIX3
cellular process (GO:0009987) 0.264SHH, COL4A1, EMX2, SIX3
single-organism process (GO:0044699) 0.484SHH, COL4A1, EMX2, SIX3
regulation of primary metabolic process (GO:0080090) 1.083SHH, SIX3, EMX2
regulation of metabolic process (GO:0019222) 1.023SHH, SIX3, EMX2
regulation of cellular biosynthetic process (GO:0031326) 1.383SHH, SIX3, EMX2
regulation of cellular metabolic process (GO:0031323) 1.073SHH, SIX3, EMX2
movement of cell or subcellular component (GO:0006928) 2.613SHH, SIX3, EMX2
anatomical structure morphogenesis (GO:0009653) 2.533SHH, COL4A1, SIX3
regulation of biological process (GO:0050789) 0.453SHH, SIX3, EMX2
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463SHH, SIX3, EMX2
multicellular organism development (GO:0007275) 2.543SHH, SIX3, EMX2
organic substance metabolic process (GO:0071704) 0.633SHH, COL4A1, SIX3
biological regulation (GO:0065007) 0.393SHH, SIX3, EMX2
neural precursor cell proliferation (GO:0061351) 5.73SHH, SIX3, EMX2
cell migration (GO:0016477) 3.123SHH, SIX3, EMX2
regulation of gene expression (GO:0010468) 1.373SHH, SIX3, EMX2
tissue morphogenesis (GO:0048729) 3.873SHH, COL4A1, SIX3
cell proliferation (GO:0008283) 3.233SHH, SIX3, EMX2
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433SHH, SIX3, EMX2
regulation of biosynthetic process (GO:0009889) 1.373SHH, SIX3, EMX2
regulation of nucleic acid-templated transcription (GO:1903506) 1.553SHH, SIX3, EMX2
regulation of cellular process (GO:0050794) 0.53SHH, SIX3, EMX2
regionalization (GO:0003002) 4.243SHH, SIX3, EMX2
metabolic process (GO:0008152) 0.583SHH, COL4A1, SIX3
regulation of RNA biosynthetic process (GO:2001141) 1.553SHH, SIX3, EMX2
response to chemical (GO:0042221) 1.983SHH, COL4A1, EMX2
brain development (GO:0007420) 4.243COL4A1, SIX3, EMX2
locomotion (GO:0040011) 2.913SHH, SIX3, EMX2
anterior/posterior pattern specification (GO:0009952) 4.713SHH, SIX3, EMX2
cell motility (GO:0048870) 3.023SHH, SIX3, EMX2
regulation of macromolecule metabolic process (GO:0060255) 1.083SHH, SIX3, EMX2
response to stimulus (GO:0050896) 1.223SHH, COL4A1, EMX2
regulation of RNA metabolic process (GO:0051252) 1.523SHH, SIX3, EMX2
macromolecule metabolic process (GO:0043170) 0.833SHH, COL4A1, SIX3
regulation of transcription, DNA-templated (GO:0006355) 1.563SHH, SIX3, EMX2
regulation of macromolecule biosynthetic process (GO:0010556) 1.433SHH, SIX3, EMX2
regulation of nitrogen compound metabolic process (GO:0051171) 1.363SHH, SIX3, EMX2
protein localization (GO:0008104) 2.362SHH, SIX3
negative regulation of response to stimulus (GO:0048585) 2.522SHH, SIX3
regulation of response to stimulus (GO:0048583) 1.542SHH, SIX3
regulation of Wnt signaling pathway (GO:0030111) 3.982SHH, SIX3
cellular component organization or biogenesis (GO:0071840) 1.222SHH, COL4A1
cellular response to stimulus (GO:0051716) 1.972SHH, COL4A1
negative regulation of macromolecule metabolic process (GO:0010605) 2.012SHH, SIX3
positive regulation of macromolecule metabolic process (GO:0010604) 1.812SHH, SIX3
negative regulation of signal transduction (GO:0009968) 2.752SHH, SIX3
cellular macromolecule localization (GO:0070727) 3.12SHH, SIX3
regulation of signal transduction (GO:0009966) 1.842SHH, SIX3
negative regulation of neuron differentiation (GO:0045665) 4.452SHH, SIX3
regulation of neuron differentiation (GO:0045664) 3.392SHH, SIX3
epithelial cell differentiation (GO:0030855) 3.982COL4A1, SIX3
positive regulation of biological process (GO:0048518) 1.22SHH, SIX3
negative regulation of biological process (GO:0048519) 1.332SHH, SIX3
macromolecule localization (GO:0033036) 2.342SHH, SIX3
regulation of cell proliferation (GO:0042127) 2.412SHH, SIX3
cell proliferation in forebrain (GO:0021846) 6.962SIX3, EMX2
regulation of cell development (GO:0060284) 3.012SHH, SIX3
negative regulation of metabolic process (GO:0009892) 1.932SHH, SIX3
positive regulation of metabolic process (GO:0009893) 1.742SHH, SIX3
negative regulation of biosynthetic process (GO:0009890) 2.472SHH, SIX3
positive regulation of biosynthetic process (GO:0009891) 2.292SHH, SIX3
negative regulation of gene expression (GO:0010629) 2.482SHH, SIX3
morphogenesis of a branching structure (GO:0001763) 4.712SHH, COL4A1
negative regulation of Wnt signaling pathway (GO:0030178) 4.442SHH, SIX3
patterning of blood vessels (GO:0001569) 6.42SHH, COL4A1
cellular component organization (GO:0016043) 1.242SHH, COL4A1
anatomical structure formation involved in morphogenesis (GO:0048646) 3.012SHH, COL4A1
regulation of developmental process (GO:0050793) 2.12SHH, SIX3
transport (GO:0006810) 1.512SHH, SIX3
regulation of multicellular organismal process (GO:0051239) 1.872SHH, SIX3
establishment of localization (GO:0051234) 1.482SHH, SIX3
dorsal/ventral pattern formation (GO:0009953) 5.62SHH, SIX3
sensory organ development (GO:0007423) 4.822SHH, SIX3
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392SHH, SIX3
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242SHH, SIX3
negative regulation of nervous system development (GO:0051961) 4.152SHH, SIX3
camera-type eye development (GO:0043010) 5.362SHH, SIX3
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.532SHH, SIX3
negative regulation of signaling (GO:0023057) 2.652SHH, SIX3
negative regulation of cell communication (GO:0010648) 2.662SHH, SIX3
cellular response to chemical stimulus (GO:0070887) 2.572SHH, COL4A1
regulation of signaling (GO:0023051) 1.722SHH, SIX3
regulation of cell communication (GO:0010646) 1.732SHH, SIX3
regulation of neurogenesis (GO:0050767) 3.212SHH, SIX3
negative regulation of multicellular organismal process (GO:0051241) 2.842SHH, SIX3
negative regulation of neurogenesis (GO:0050768) 4.222SHH, SIX3
regulation of neural precursor cell proliferation (GO:2000177) 5.452SHH, SIX3
epithelial tube morphogenesis (GO:0060562) 5.122SHH, COL4A1
regulation of stem cell proliferation (GO:0072091) 5.62SHH, SIX3
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562SHH, SIX3
tube morphogenesis (GO:0035239) 4.352SHH, COL4A1
negative regulation of cell development (GO:0010721) 4.022SHH, SIX3
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.712SHH, SIX3
negative regulation of cell differentiation (GO:0045596) 3.332SHH, SIX3
regulation of cell differentiation (GO:0045595) 2.422SHH, SIX3
eye development (GO:0001654) 5.072SHH, SIX3
positive regulation of transcription, DNA-templated (GO:0045893) 2.562SHH, SIX3
renal system development (GO:0072001) 6.732SHH, EMX2
negative regulation of developmental process (GO:0051093) 3.172SHH, SIX3
negative regulation of RNA metabolic process (GO:0051253) 2.662SHH, SIX3
positive regulation of RNA metabolic process (GO:0051254) 2.512SHH, SIX3
positive regulation of RNA biosynthetic process (GO:1902680) 2.542SHH, SIX3
positive regulation of gene expression (GO:0010628) 2.352SHH, SIX3
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.812SHH, SIX3
protein localization to organelle (GO:0033365) 3.572SHH, SIX3
system development (GO:0048731) 2.922SHH, EMX2
gland development (GO:0048732) 4.152SHH, SIX3
protein localization to nucleus (GO:0034504) 4.92SHH, SIX3
positive regulation of cellular biosynthetic process (GO:0031328) 2.32SHH, SIX3
negative regulation of cellular biosynthetic process (GO:0031327) 2.492SHH, SIX3
positive regulation of cellular metabolic process (GO:0031325) 1.812SHH, SIX3
negative regulation of cellular metabolic process (GO:0031324) 2.012SHH, SIX3
branching morphogenesis of an epithelial tube (GO:0048754) 4.932SHH, COL4A1
angiogenesis (GO:0001525) 4.152SHH, COL4A1
morphogenesis of an epithelium (GO:0002009) 4.082SHH, COL4A1
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.62SHH, SIX3
regulation of nervous system development (GO:0051960) 3.12SHH, SIX3
regulation of neuroblast proliferation (GO:1902692) 6.362SHH, SIX3
regulation of multicellular organismal development (GO:2000026) 2.312SHH, SIX3
telencephalon regionalization (GO:0021978) 7.782SHH, SIX3
embryonic morphogenesis (GO:0048598) 3.722SHH, SIX3
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352SHH, SIX3
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552SHH, SIX3
neuron differentiation (GO:0030182) 4.172SHH, EMX2
morphogenesis of a branching epithelium (GO:0061138) 4.772SHH, COL4A1
cellular protein localization (GO:0034613) 3.112SHH, SIX3
negative regulation of RNA biosynthetic process (GO:1902679) 2.72SHH, SIX3
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472SHH, SIX3
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292SHH, SIX3
localization (GO:0051179) 1.42SHH, SIX3
cellular localization (GO:0051641) 2.322SHH, SIX3
primary metabolic process (GO:0044238) 0.692SHH, SIX3
cellular metabolic process (GO:0044237) 0.692SHH, SIX3
forebrain development (GO:0030900) 5.482SHH, EMX2
negative regulation of transcription, DNA-templated (GO:0045892) 2.752SHH, SIX3
negative regulation of cellular process (GO:0048523) 1.412SHH, SIX3
positive regulation of cellular process (GO:0048522) 1.32SHH, SIX3

NET-GE enrichment

Term New enriched termICP valueGenes
pattern specification process (GO:0007389) -3.790.041SHH, COL4A1, EMX2, SIX3
positive regulation of oligodendrocyte differentiation (GO:0048714) NEW7.160.019SHH, EMX2
embryonic skeletal system development (GO:0048706) NEW5.970.002SHH, SIX3, EMX2
dorsal/ventral pattern formation (GO:0009953) -5.60.012SHH, SIX3, EMX2
cardiac muscle cell proliferation (GO:0060038) NEW7.160.038SHH, EMX2
skeletal system development (GO:0001501) NEW4.490.002SHH, COL4A1, EMX2, SIX3
patterning of blood vessels (GO:0001569) -6.40.013SHH, COL4A1
cerebral cortex regionalization (GO:0021796) NEW7.940.014SHH, EMX2
cell proliferation in forebrain (GO:0021846) -6.960.029SHH, EMX2
forebrain dorsal/ventral pattern formation (GO:0021798) NEW7.780.004SHH, SIX3
regionalization (GO:0003002) -4.240.006SHH, SIX3, EMX2
neural precursor cell proliferation (GO:0061351) -5.70.021SHH, EMX2
axon guidance (GO:0007411) NEW4.440.025SHH, COL4A1, EMX2, SIX3
renal system development (GO:0072001) -6.730.002SHH, EMX2
neuron projection guidance (GO:0097485) NEW4.430.025SHH, COL4A1, EMX2, SIX3
striated muscle cell proliferation (GO:0014855) NEW7.020.047SHH, EMX2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.284SHH, COL4A1, EMX2, SIX3
cell part (GO:0044464) 0.114SHH, COL4A1, EMX2, SIX3
intracellular membrane-bounded organelle (GO:0043231) 0.62SIX3, EMX2
organelle lumen (GO:0043233) 3.052SHH, COL4A1
extracellular region part (GO:0044421) 1.572SHH, COL4A1
nucleus (GO:0005634) 1.072SIX3, EMX2
proteinaceous extracellular matrix (GO:0005578) 4.012SHH, COL4A1
cytoplasmic part (GO:0044444) 0.822SHH, COL4A1
endoplasmic reticulum lumen (GO:0005788) 4.52SHH, COL4A1
extracellular matrix (GO:0031012) 3.812SHH, COL4A1
intracellular organelle part (GO:0044446) 0.812SHH, COL4A1
endoplasmic reticulum part (GO:0044432) 2.732SHH, COL4A1
intracellular organelle (GO:0043229) 0.512SIX3, EMX2
intracellular organelle lumen (GO:0070013) 3.052SHH, COL4A1
membrane-enclosed lumen (GO:0031974) 3.052SHH, COL4A1
membrane-bounded organelle (GO:0043227) 0.472SIX3, EMX2
organelle (GO:0043226) 0.42SIX3, EMX2
organelle part (GO:0044422) 0.792SHH, COL4A1
extracellular region (GO:0005576) 2.182SHH, COL4A1

NET-GE enrichment

Term New enriched termICP valueGenes
endoplasmic reticulum lumen (GO:0005788) -4.50.008SHH, COL4A1, EMX2
extracellular matrix (GO:0031012) -3.810.038SHH, COL4A1, EMX2