Disease table of MICROPHTHALMIA, SYNDROMIC OMIM ID: PS309800

Gene-disease associations table

GeneAssociated with MICROPHTHALMIA, SYNDROMIC inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
HCCSClinVar, OMIM, HUMSAVARHGNC linkXp22.22PS309800, PS309801
BMP4ClinVar, OMIM, HUMSAVARHGNC link14q22.22PS309800, PS119530
NAA10ClinVar, OMIMHGNC linkXq282300855, PS309800
VAX1ClinVar, OMIM, HUMSAVARHGNC link10q25.31PS309800
HMGB3ClinVar, OMIMHGNC linkXq281PS309800
STRA6ClinVar, OMIM, HUMSAVARHGNC link15q24.12PS309800, PS300345
MAB21L2ClinVar, OMIM, HUMSAVARHGNC link4q31.31PS309800
OTX2ClinVar, OMIM, HUMSAVARHGNC link14q22.32PS309800, PS613038
RARBClinVar, OMIM, HUMSAVARHGNC link3p24.21PS309800
BCORClinVar, OMIM, HUMSAVARHGNC linkXp11.41PS309800
SOX2ClinVar, OMIMHGNC link3q26.331PS309800

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
Xq282HMGB3, NAA10
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
14q222BMP4, OTX2
Xq282HMGB3, NAA10
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
14q22BMP4, OTX2
Xq22HMGB3, NAA10
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
14q2BMP4, OTX2
Xp2BCOR, HCCS
Xq2HMGB3, NAA10
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
142BMP4, OTX2
32SOX2, RARB
X4HMGB3, NAA10, HCCS, BCOR
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
OTX2YES12TYR, POU1F1, HESX1, DCT, BEST1, AURKA, RBP3, IL6, CCNG2, IGF1, PAX6, CDC25C0
RARBYES3RARB, ADH5, THBD1RARB
SOX2YES24POU4F2, ISL1, NTRK3, FGF4, VIM, TUBB3, LHX3, ITGA6, CCND1, L1TD1, PGA5, DKK1, PAX6, MKI67, RHO, ABCC6, PLAC1, UTF1, ABCC3, POU1F1, LXN, MMP3, SEMA6A, ASXL10
POU5F1NO26TBX18, BMP4, FGF4, TDGF1, NR0B1, GATA6, ITGA6, DDC, L1TD1, DKK1, CDKN1A, CDX2, LEFTY1, SOX2, ID2, SPP1, UTF1, NANOG, T, HLX, DLX5, EOMES, THY1, GADD45A, ZFP42, SEMA6A2BMP4, SOX2
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
BMP4YES4POU5F1, FOXL1, ETS1, GATA40
RARBYES7RARB, HDAC1, RARA, FOXD3, JUN, PPARG, RARG1RARB
SOX2YES1POU5F10
POU1F1NO7OTX2, SOX2, HMGA1, LHX4, POU1F1, HMGA2, LHX22OTX2, SOX2
PAX6NO7SP1, CTCF, OTX2, SOX2, TFCP2, FOXA2, SIRT12OTX2, SOX2
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
HCCSSOX2No1FZR1
NAA10STRA6No1NTRK1
NAA10RARBNo1MEOX2
NAA10BCORYes1BCOR
NAA10SOX2No2MTA1, EHMT2
HMGB3SOX2No1SUPT16H
MAB21L2OTX2No1APP
MAB21L2SOX2No2MEIS2, PBX2
RARBBCORNo1NCOR2
RARBSOX2No2NCOR2, ARID1A
BCORSOX2No7USP7, HDAC1, TCF3, NCOR2, HDAC3, CTBP1, ZBTB7A

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
BMP4OTX2No-5WNT5A, WNT1, FGF8, MYC, MITF
BMP4RARBNo-1FGF10
BMP4SOX2No-18STAT3, DKK1, EOMES, FGFR1, KLF4, NKX2-1, FGF8, CDX1, FGF4, PROM1, SMAD4, CDX2, YBX1, PAX6, CCND1, NOG, HMGA2, TBX2
STRA6RARBNo-1PGR
OTX2SOX2No-3FGF2, FGF8, FOXM1
RARBSOX2No-1NR5A1

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
Signaling pathways regulating pluripotency of stem cellshsa045505.62BMP4, SOX2
Hippo signaling pathwayhsa043905.372BMP4, SOX2
Pathways in cancerhsa052003.982RARB, BMP4
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Signal TransductionR-HSA-1625821.783STRA6, RARB, SOX2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.1810RARB, OTX2, BMP4, NAA10, HCCS, VAX1, HMGB3, SOX2, BCOR, MAB21L2
protein binding (GO:0005515) 0.468RARB, OTX2, BMP4, NAA10, SOX2, HMGB3, BCOR, MAB21L2
organic cyclic compound binding (GO:0097159) 1.056RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
heterocyclic compound binding (GO:1901363) 1.066RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
nucleic acid binding (GO:0003676) 1.446RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
DNA binding (GO:0003677) 1.926RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
transcription regulatory region DNA binding (GO:0044212) 3.035RARB, OTX2, BCOR, SOX2, VAX1
double-stranded DNA binding (GO:0003690) 3.095HMGB3, OTX2, RARB, SOX2, VAX1
regulatory region nucleic acid binding (GO:0001067) 3.035RARB, OTX2, VAX1, SOX2, BCOR
regulatory region DNA binding (GO:0000975) 3.035RARB, OTX2, VAX1, SOX2, BCOR
sequence-specific DNA binding (GO:0043565) 2.794RARB, OTX2, VAX1, SOX2
sequence-specific double-stranded DNA binding (GO:1990837) 3.24RARB, OTX2, VAX1, SOX2
transcription factor activity, sequence-specific DNA binding (GO:0003700) 2.654RARB, OTX2, VAX1, SOX2
transcription regulatory region sequence-specific DNA binding (GO:0000976) 3.244RARB, OTX2, VAX1, SOX2
nucleic acid binding transcription factor activity (GO:0001071) 2.654RARB, OTX2, VAX1, SOX2
RNA polymerase II transcription factor activity, sequence-specific DNA binding (GO:0000981) 3.294RARB, OTX2, VAX1, SOX2
macromolecular complex binding (GO:0044877) 2.613RARB, VAX1, NAA10
RNA polymerase II regulatory region DNA binding (GO:0001012) 3.363RARB, OTX2, VAX1
RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977) 3.373RARB, OTX2, VAX1
catalytic activity (GO:0003824) 1.053HCCS, BCOR, NAA10
cation binding (GO:0043169) 1.42HCCS, RARB
structure-specific DNA binding (GO:0043566) 4.982HMGB3, VAX1
transcription factor binding (GO:0008134) 3.462RARB, BCOR
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding (GO:0001228) 3.982OTX2, SOX2
ion binding (GO:0043167) 1.362HCCS, RARB
molecular transducer activity (GO:0060089) 2.322STRA6, RARB
transferase activity (GO:0016740) 1.952BCOR, NAA10
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding (GO:0001077) 4.312OTX2, SOX2
RNA binding (GO:0003723) 2.362HMGB3, SOX2
receptor binding (GO:0005102) 2.432RARB, BMP4
metal ion binding (GO:0046872) 1.412HCCS, RARB
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding (GO:0000982) 3.942OTX2, SOX2
receptor activity (GO:0004872) 2.322STRA6, RARB

NET-GE enrichment

Term New enriched termICP valueGenes
receptor agonist activity (GO:0048018) NEW6.970.028OTX2, BMP4
transcription regulatory region DNA binding (GO:0044212) -3.030.008RARB, OTX2, BCOR, SOX2
regulatory region nucleic acid binding (GO:0001067) -3.030.009RARB, OTX2, BCOR, SOX2
regulatory region DNA binding (GO:0000975) -3.030.009RARB, OTX2, BCOR, SOX2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
single-organism developmental process (GO:0044767) 1.4910STRA6, RARB, OTX2, BMP4, VAX1, HCCS, SOX2, HMGB3, BCOR, MAB21L2
developmental process (GO:0032502) 1.3610STRA6, RARB, OTX2, BMP4, VAX1, HCCS, SOX2, HMGB3, BCOR, MAB21L2
metabolic process (GO:0008152) 0.5810STRA6, RARB, OTX2, BMP4, NAA10, HCCS, VAX1, HMGB3, SOX2, BCOR
single-organism process (GO:0044699) 0.4810STRA6, RARB, OTX2, BMP4, VAX1, HCCS, SOX2, HMGB3, BCOR, MAB21L2
primary metabolic process (GO:0044238) 0.699STRA6, RARB, BMP4, OTX2, NAA10, VAX1, HMGB3, SOX2, BCOR
multicellular organismal process (GO:0032501) 1.459STRA6, RARB, OTX2, BMP4, VAX1, SOX2, HMGB3, BCOR, MAB21L2
single-multicellular organism process (GO:0044707) 1.789STRA6, RARB, OTX2, BMP4, VAX1, SOX2, HMGB3, BCOR, MAB21L2
anatomical structure development (GO:0048856) 1.589STRA6, RARB, BMP4, OTX2, VAX1, SOX2, HMGB3, BCOR, MAB21L2
cellular metabolic process (GO:0044237) 0.699STRA6, RARB, BMP4, OTX2, NAA10, VAX1, HMGB3, SOX2, BCOR
organic substance metabolic process (GO:0071704) 0.639STRA6, RARB, BMP4, OTX2, NAA10, VAX1, HMGB3, SOX2, BCOR
biological regulation (GO:0065007) 0.399STRA6, RARB, OTX2, BMP4, VAX1, SOX2, HMGB3, BCOR, MAB21L2
cellular process (GO:0009987) 0.269STRA6, RARB, BMP4, OTX2, NAA10, VAX1, HMGB3, SOX2, BCOR
regulation of biological process (GO:0050789) 0.459STRA6, RARB, BMP4, OTX2, VAX1, SOX2, HMGB3, BCOR, MAB21L2
macromolecule metabolic process (GO:0043170) 0.838RARB, BMP4, OTX2, NAA10, VAX1, HMGB3, SOX2, BCOR
cellular macromolecule metabolic process (GO:0044260) 0.938RARB, OTX2, BMP4, VAX1, NAA10, HMGB3, SOX2, BCOR
regulation of cellular process (GO:0050794) 0.58RARB, OTX2, BMP4, VAX1, SOX2, HMGB3, BCOR, MAB21L2
animal organ development (GO:0048513) 2.537STRA6, RARB, BMP4, VAX1, SOX2, BCOR, MAB21L2
regulation of primary metabolic process (GO:0080090) 1.087RARB, OTX2, BMP4, VAX1, SOX2, HMGB3, BCOR
regulation of metabolic process (GO:0019222) 1.027RARB, BMP4, OTX2, VAX1, SOX2, BCOR, HMGB3
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.437RARB, BMP4, OTX2, VAX1, SOX2, BCOR, HMGB3
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.467RARB, OTX2, BMP4, VAX1, SOX2, HMGB3, BCOR
regulation of cellular metabolic process (GO:0031323) 1.077RARB, BMP4, OTX2, VAX1, SOX2, BCOR, HMGB3
regulation of RNA metabolic process (GO:0051252) 1.527RARB, BMP4, OTX2, VAX1, SOX2, BCOR, HMGB3
regulation of biosynthetic process (GO:0009889) 1.377RARB, BMP4, OTX2, VAX1, SOX2, BCOR, HMGB3
regulation of nucleic acid-templated transcription (GO:1903506) 1.557RARB, BMP4, OTX2, VAX1, SOX2, BCOR, HMGB3
regulation of cellular biosynthetic process (GO:0031326) 1.387RARB, BMP4, OTX2, VAX1, SOX2, BCOR, HMGB3
regulation of transcription, DNA-templated (GO:0006355) 1.567RARB, BMP4, OTX2, VAX1, SOX2, BCOR, HMGB3
regulation of macromolecule biosynthetic process (GO:0010556) 1.437RARB, BMP4, OTX2, VAX1, SOX2, BCOR, HMGB3
regulation of nitrogen compound metabolic process (GO:0051171) 1.367RARB, BMP4, OTX2, VAX1, SOX2, BCOR, HMGB3
regulation of RNA biosynthetic process (GO:2001141) 1.557RARB, BMP4, OTX2, VAX1, SOX2, BCOR, HMGB3
regulation of macromolecule metabolic process (GO:0060255) 1.087RARB, BMP4, OTX2, VAX1, SOX2, BCOR, HMGB3
regulation of gene expression (GO:0010468) 1.377RARB, BMP4, OTX2, VAX1, SOX2, BCOR, HMGB3
RNA biosynthetic process (GO:0032774) 1.846RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
nucleic acid metabolic process (GO:0090304) 1.466RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
cellular biosynthetic process (GO:0044249) 1.376RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
cellular nitrogen compound metabolic process (GO:0034641) 1.226RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
nitrogen compound metabolic process (GO:0006807) 1.136RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
cellular macromolecule biosynthetic process (GO:0034645) 1.666RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
anatomical structure morphogenesis (GO:0009653) 2.536STRA6, RARB, BMP4, HCCS, BCOR, MAB21L2
organic cyclic compound biosynthetic process (GO:1901362) 1.666RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
multicellular organism development (GO:0007275) 2.546OTX2, BMP4, SOX2, VAX1, HMGB3, MAB21L2
organic cyclic compound metabolic process (GO:1901360) 1.266RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
nucleobase-containing compound metabolic process (GO:0006139) 1.356RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
cellular component organization or biogenesis (GO:0071840) 1.226BMP4, OTX2, SOX2, NAA10, HMGB3, BCOR
cellular component organization (GO:0016043) 1.246BMP4, OTX2, SOX2, NAA10, HMGB3, BCOR
nucleic acid-templated transcription (GO:0097659) 1.916RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
positive regulation of biological process (GO:0048518) 1.26STRA6, RARB, OTX2, BMP4, SOX2, MAB21L2
negative regulation of biological process (GO:0048519) 1.336RARB, BMP4, SOX2, VAX1, HMGB3, BCOR
heterocycle biosynthetic process (GO:0018130) 1.76RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
organic substance biosynthetic process (GO:1901576) 1.346RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
regulation of developmental process (GO:0050793) 2.16RARB, BMP4, OTX2, SOX2, VAX1, BCOR
cellular aromatic compound metabolic process (GO:0006725) 1.36RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
biosynthetic process (GO:0009058) 1.326RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
macromolecule biosynthetic process (GO:0009059) 1.616RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
single-organism cellular process (GO:0044763) 0.656STRA6, RARB, OTX2, BMP4, SOX2, VAX1
regulation of multicellular organismal process (GO:0051239) 1.876RARB, OTX2, BMP4, SOX2, VAX1, BCOR
nucleobase-containing compound biosynthetic process (GO:0034654) 1.726RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
heterocycle metabolic process (GO:0046483) 1.316RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
RNA metabolic process (GO:0016070) 1.596RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
cellular nitrogen compound biosynthetic process (GO:0044271) 1.596RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.246RARB, BMP4, OTX2, SOX2, VAX1, BCOR
regulation of multicellular organismal development (GO:2000026) 2.316RARB, OTX2, BMP4, SOX2, VAX1, BCOR
transcription, DNA-templated (GO:0006351) 1.916RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
aromatic compound biosynthetic process (GO:0019438) 1.76RARB, OTX2, SOX2, VAX1, HMGB3, BCOR
negative regulation of cellular process (GO:0048523) 1.416RARB, BMP4, SOX2, VAX1, HMGB3, BCOR
negative regulation of metabolic process (GO:0009892) 1.935BCOR, RARB, BMP4, SOX2, VAX1
negative regulation of biosynthetic process (GO:0009890) 2.475BCOR, RARB, BMP4, SOX2, VAX1
negative regulation of cellular biosynthetic process (GO:0031327) 2.495BCOR, RARB, BMP4, SOX2, VAX1
cell differentiation (GO:0030154) 2.145RARB, OTX2, BMP4, SOX2, VAX1
negative regulation of gene expression (GO:0010629) 2.485BCOR, RARB, BMP4, SOX2, VAX1
negative regulation of macromolecule metabolic process (GO:0010605) 2.015VAX1, RARB, BMP4, SOX2, BCOR
negative regulation of transcription from RNA polymerase II promoter (GO:0000122) 3.125BCOR, RARB, BMP4, SOX2, VAX1
cellular developmental process (GO:0048869) 1.825RARB, OTX2, BMP4, SOX2, VAX1
negative regulation of multicellular organismal process (GO:0051241) 2.845BCOR, RARB, BMP4, SOX2, VAX1
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.65VAX1, RARB, BMP4, SOX2, BCOR
regulation of cell proliferation (GO:0042127) 2.415RARB, MAB21L2, BMP4, SOX2, VAX1
organ morphogenesis (GO:0009887) 3.555STRA6, RARB, HCCS, BMP4, BCOR
negative regulation of cellular metabolic process (GO:0031324) 2.015BCOR, RARB, BMP4, SOX2, VAX1
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.555BCOR, RARB, BMP4, SOX2, VAX1
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.715VAX1, RARB, BMP4, SOX2, BCOR
negative regulation of RNA biosynthetic process (GO:1902679) 2.75VAX1, RARB, BMP4, SOX2, BCOR
negative regulation of cell differentiation (GO:0045596) 3.335VAX1, HMGB3, BMP4, SOX2, RARB
regulation of cell differentiation (GO:0045595) 2.425VAX1, HMGB3, BMP4, SOX2, RARB
negative regulation of transcription, DNA-templated (GO:0045892) 2.755VAX1, RARB, BMP4, SOX2, BCOR
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.475BCOR, RARB, BMP4, SOX2, VAX1
negative regulation of developmental process (GO:0051093) 3.175BCOR, RARB, BMP4, SOX2, VAX1
sensory organ development (GO:0007423) 4.825STRA6, MAB21L2, BMP4, SOX2, VAX1
negative regulation of RNA metabolic process (GO:0051253) 2.665BCOR, RARB, BMP4, SOX2, VAX1
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.535VAX1, RARB, BMP4, SOX2, BCOR
positive regulation of cellular process (GO:0048522) 1.35RARB, MAB21L2, BMP4, SOX2, OTX2
positive regulation of metabolic process (GO:0009893) 1.744RARB, OTX2, BMP4, SOX2
developmental growth (GO:0048589) 4.054STRA6, RARB, BMP4, SOX2
positive regulation of cellular biosynthetic process (GO:0031328) 2.34RARB, OTX2, BMP4, SOX2
positive regulation of cellular metabolic process (GO:0031325) 1.814RARB, OTX2, BMP4, SOX2
positive regulation of gene expression (GO:0010628) 2.354RARB, OTX2, BMP4, SOX2
regulation of neurogenesis (GO:0050767) 3.214RARB, BMP4, SOX2, VAX1
positive regulation of macromolecule metabolic process (GO:0010604) 1.814RARB, OTX2, BMP4, SOX2
positive regulation of biosynthetic process (GO:0009891) 2.294RARB, OTX2, BMP4, SOX2
regulation of cell development (GO:0060284) 3.014RARB, BMP4, SOX2, VAX1
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.564RARB, OTX2, BMP4, SOX2
negative regulation of cell proliferation (GO:0008285) 3.264RARB, BMP4, SOX2, VAX1
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.354RARB, OTX2, BMP4, SOX2
tissue development (GO:0009888) 3.274STRA6, RARB, BMP4, SOX2
eye development (GO:0001654) 5.074MAB21L2, BMP4, SOX2, VAX1
positive regulation of transcription, DNA-templated (GO:0045893) 2.564RARB, OTX2, BMP4, SOX2
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.294RARB, OTX2, BMP4, SOX2
growth (GO:0040007) 3.84STRA6, RARB, BMP4, SOX2
positive regulation of RNA metabolic process (GO:0051254) 2.514RARB, OTX2, BMP4, SOX2
positive regulation of RNA biosynthetic process (GO:1902680) 2.544RARB, OTX2, BMP4, SOX2
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.394RARB, OTX2, BMP4, SOX2
regulation of nervous system development (GO:0051960) 3.14RARB, BMP4, SOX2, VAX1
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.814RARB, OTX2, BMP4, SOX2
system development (GO:0048731) 2.924STRA6, MAB21L2, VAX1, BMP4
embryonic morphogenesis (GO:0048598) 3.723RARB, MAB21L2, BMP4
regulation of anatomical structure morphogenesis (GO:0022603) 2.793BCOR, OTX2, BMP4
macromolecular complex subunit organization (GO:0043933) 2.143BCOR, OTX2, SOX2
regulation of response to stimulus (GO:0048583) 1.543OTX2, BMP4, SOX2
regulation of signaling (GO:0023051) 1.723OTX2, BMP4, SOX2
regulation of cell communication (GO:0010646) 1.733OTX2, BMP4, SOX2
regulation of apoptotic process (GO:0042981) 2.53RARB, BMP4, SOX2
cellular protein metabolic process (GO:0044267) 1.633BCOR, NAA10, BMP4
regulation of cell death (GO:0010941) 2.433RARB, BMP4, SOX2
regulation of signal transduction (GO:0009966) 1.843OTX2, BMP4, SOX2
positive regulation of multicellular organismal process (GO:0051240) 2.493RARB, OTX2, BMP4
regulation of protein metabolic process (GO:0051246) 1.933BCOR, BMP4, SOX2
negative regulation of neurogenesis (GO:0050768) 4.223BMP4, SOX2, VAX1
regulation of neuron differentiation (GO:0045664) 3.393RARB, BMP4, SOX2
regulation of programmed cell death (GO:0043067) 2.493RARB, BMP4, SOX2
regulation of protein modification process (GO:0031399) 2.323BCOR, BMP4, SOX2
anatomical structure formation involved in morphogenesis (GO:0048646) 3.013STRA6, OTX2, BMP4
sensory organ morphogenesis (GO:0090596) 5.723STRA6, RARB, BMP4
positive regulation of cell proliferation (GO:0008284) 3.013RARB, MAB21L2, BMP4
epithelium development (GO:0060429) 4.573STRA6, RARB, BMP4
negative regulation of cell development (GO:0010721) 4.023BMP4, SOX2, VAX1
cellular protein modification process (GO:0006464) 1.793BCOR, NAA10, BMP4
positive regulation of cell differentiation (GO:0045597) 3.013RARB, BMP4, SOX2
macromolecule modification (GO:0043412) 1.733BCOR, NAA10, BMP4
protein modification process (GO:0036211) 1.793BCOR, NAA10, BMP4
tube development (GO:0035295) 4.413STRA6, RARB, BMP4
heart development (GO:0007507) 4.243STRA6, BCOR, BMP4
regulation of cellular protein metabolic process (GO:0032268) 1.993BCOR, BMP4, SOX2
positive regulation of developmental process (GO:0051094) 2.773RARB, OTX2, BMP4
protein metabolic process (GO:0019538) 1.453BCOR, NAA10, BMP4
response to stimulus (GO:0050896) 1.223HMGB3, BMP4, SOX2
response to stress (GO:0006950) 1.83HMGB3, BMP4, SOX2
negative regulation of nervous system development (GO:0051961) 4.153BMP4, SOX2, VAX1
forebrain development (GO:0030900) 5.483OTX2, BMP4, SOX2
gland development (GO:0048732) 4.153STRA6, BMP4, SOX2
camera-type eye development (GO:0043010) 5.363MAB21L2, BMP4, VAX1
limb morphogenesis (GO:0035108) 5.052RARB, BMP4
regulation of phosphate metabolic process (GO:0019220) 2.352BMP4, SOX2
negative regulation of response to stimulus (GO:0048585) 2.522BMP4, SOX2
positive regulation of response to stimulus (GO:0048584) 2.182BMP4, SOX2
cell development (GO:0048468) 3.282RARB, BMP4
negative regulation of epithelial cell proliferation (GO:0050680) 4.982BMP4, SOX2
signal transduction (GO:0007165) 1.282RARB, BMP4
regulation of bone mineralization (GO:0030500) 5.492BCOR, BMP4
hormone-mediated signaling pathway (GO:0009755) 4.662RARB, BMP4
single-organism metabolic process (GO:0044710) 1.632STRA6, HCCS
negative regulation of cell cycle (GO:0045786) 3.672BMP4, SOX2
negative regulation of signal transduction (GO:0009968) 2.752BMP4, SOX2
positive regulation of signal transduction (GO:0009967) 2.52BMP4, SOX2
response to growth factor (GO:0070848) 4.142BMP4, SOX2
negative regulation of chondrocyte differentiation (GO:0032331) 6.782RARB, BMP4
regulation of chondrocyte differentiation (GO:0032330) 5.922RARB, BMP4
glandular epithelial cell development (GO:0002068) 6.962RARB, BMP4
positive regulation of neuron differentiation (GO:0045666) 3.982RARB, BMP4
positive regulation of cell development (GO:0010720) 3.572RARB, BMP4
columnar/cuboidal epithelial cell development (GO:0002066) 6.292RARB, BMP4
epithelial cell development (GO:0002064) 4.922RARB, BMP4
negative regulation of cell death (GO:0060548) 2.952RARB, BMP4
developmental process involved in reproduction (GO:0003006) 3.362STRA6, BMP4
cartilage development (GO:0051216) 5.312RARB, BMP4
regulation of embryonic development (GO:0045995) 4.982OTX2, BMP4
neuron projection guidance (GO:0097485) 4.432OTX2, VAX1
response to organic substance (GO:0010033) 2.22BMP4, SOX2
system process (GO:0003008) 2.32STRA6, BMP4
regulation of phosphorylation (GO:0042325) 2.52BMP4, SOX2
positive regulation of phosphorylation (GO:0042327) 2.92BMP4, SOX2
single organism reproductive process (GO:0044702) 2.732STRA6, BMP4
negative regulation of organelle organization (GO:0010639) 4.072BCOR, BMP4
regulation of cellular component organization (GO:0051128) 2.012BCOR, BMP4
muscle cell differentiation (GO:0042692) 5.092RARB, BMP4
negative regulation of cell communication (GO:0010648) 2.662BMP4, SOX2
DNA conformation change (GO:0071103) 4.92HMGB3, NAA10
embryonic organ morphogenesis (GO:0048562) 4.922RARB, BMP4
digestive tract development (GO:0048565) 5.492STRA6, RARB
embryonic digestive tract development (GO:0048566) 6.782STRA6, RARB
embryonic organ development (GO:0048568) 4.862STRA6, RARB
movement of cell or subcellular component (GO:0006928) 2.612OTX2, VAX1
positive regulation of phosphate metabolic process (GO:0045937) 2.782BMP4, SOX2
blood vessel development (GO:0001568) 4.952STRA6, BMP4
transcription from RNA polymerase II promoter (GO:0006366) 3.382OTX2, SOX2
regulation of molecular function (GO:0065009) 1.782BMP4, SOX2
regulation of catalytic activity (GO:0050790) 1.972BMP4, SOX2
regulation of biomineral tissue development (GO:0070167) 5.412BCOR, BMP4
positive regulation of MAPK cascade (GO:0043410) 3.572BMP4, SOX2
positive regulation of intracellular signal transduction (GO:1902533) 2.952BMP4, SOX2
regulation of ossification (GO:0030278) 4.532BCOR, BMP4
regulation of intracellular signal transduction (GO:1902531) 2.312BMP4, SOX2
cell fate commitment (GO:0045165) 4.722BMP4, SOX2
brain development (GO:0007420) 4.242VAX1, BMP4
negative regulation of cartilage development (GO:0061037) 6.512RARB, BMP4
negative regulation of protein modification process (GO:0031400) 3.42BCOR, BMP4
positive regulation of protein modification process (GO:0031401) 2.72BMP4, SOX2
positive regulation of nervous system development (GO:0051962) 3.642RARB, BMP4
response to wounding (GO:0009611) 4.392BMP4, SOX2
regulation of organelle organization (GO:0033043) 2.722BCOR, BMP4
regulation of cell adhesion (GO:0030155) 3.272BMP4, SOX2
negative regulation of cellular component organization (GO:0051129) 3.352BCOR, BMP4
kidney development (GO:0001822) 4.792STRA6, BMP4
positive regulation of signaling (GO:0023056) 2.412BMP4, SOX2
negative regulation of signaling (GO:0023057) 2.652BMP4, SOX2
retina development in camera-type eye (GO:0060041) 5.512RARB, BMP4
steroid hormone mediated signaling pathway (GO:0043401) 4.92RARB, BMP4
axon guidance (GO:0007411) 4.442OTX2, VAX1
positive regulation of cell communication (GO:0010647) 2.412BMP4, SOX2
regulation of MAPK cascade (GO:0043408) 3.222BMP4, SOX2
regulation of cellular response to growth factor stimulus (GO:0090287) 4.292OTX2, BMP4
regulation of odontogenesis (GO:0042481) 6.552BCOR, BMP4
positive regulation of phosphorus metabolic process (GO:0010562) 2.782BMP4, SOX2
vasculature development (GO:0001944) 6.042STRA6, BMP4
positive regulation of protein metabolic process (GO:0051247) 2.432BMP4, SOX2
positive regulation of neurogenesis (GO:0050769) 3.772RARB, BMP4
positive regulation of cellular protein metabolic process (GO:0032270) 2.492BMP4, SOX2
regulation of stem cell proliferation (GO:0072091) 5.62VAX1, BMP4
organelle organization (GO:0006996) 2.022HMGB3, NAA10
reproductive structure development (GO:0048608) 4.082STRA6, BMP4
mesonephric epithelium development (GO:0072163) 5.82RARB, BMP4
mesonephric tubule development (GO:0072164) 5.822RARB, BMP4
hindlimb morphogenesis (GO:0035137) 6.122RARB, BMP4
ureteric bud development (GO:0001657) 5.972RARB, BMP4
palate development (GO:0060021) 5.382BCOR, VAX1
appendage morphogenesis (GO:0035107) 5.052RARB, BMP4
chromosome organization (GO:0051276) 3.792HMGB3, NAA10
negative regulation of cellular protein metabolic process (GO:0032269) 2.882BCOR, BMP4
regulation of epithelial cell proliferation (GO:0050678) 4.062BMP4, SOX2
odontogenesis (GO:0042476) 5.192BCOR, BMP4
lung development (GO:0030324) 5.132STRA6, BMP4
embryonic limb morphogenesis (GO:0030326) 5.242RARB, BMP4
bone development (GO:0060348) 5.822RARB, BMP4
regulation of cell-cell adhesion (GO:0022407) 3.792BMP4, SOX2
pituitary gland development (GO:0021983) 6.332BMP4, SOX2
positive regulation of cell death (GO:0010942) 3.322RARB, BMP4
tube morphogenesis (GO:0035239) 4.352STRA6, BMP4
kidney epithelium development (GO:0072073) 5.542RARB, BMP4
osteoblast differentiation (GO:0001649) 5.052BMP4, SOX2
pattern specification process (GO:0007389) 3.792BCOR, BMP4
chromatin organization (GO:0006325) 3.282BCOR, SOX2
positive regulation of apoptotic process (GO:0043065) 3.382RARB, BMP4
negative regulation of apoptotic process (GO:0043066) 3.042RARB, BMP4
negative regulation of programmed cell death (GO:0043069) 3.022RARB, BMP4
positive regulation of programmed cell death (GO:0043068) 3.382RARB, BMP4
neuron differentiation (GO:0030182) 4.172OTX2, BMP4
eye morphogenesis (GO:0048592) 5.92RARB, BMP4
smooth muscle tissue development (GO:0048745) 7.022STRA6, BMP4
regulation of phosphorus metabolic process (GO:0051174) 2.352BMP4, SOX2
reproductive process (GO:0022414) 2.552STRA6, BMP4
embryonic hindlimb morphogenesis (GO:0035116) 6.362RARB, BMP4
regulation of cartilage development (GO:0061035) 5.62RARB, BMP4
embryonic appendage morphogenesis (GO:0035113) 5.242RARB, BMP4
response to chemical (GO:0042221) 1.982BMP4, SOX2
negative regulation of protein metabolic process (GO:0051248) 2.822BCOR, BMP4
localization (GO:0051179) 1.42STRA6, BMP4
locomotion (GO:0040011) 2.912VAX1, BMP4
cardiac septum development (GO:0003279) 5.942STRA6, BMP4
nervous system development (GO:0007399) 3.532MAB21L2, VAX1
regulation of cell cycle (GO:0051726) 2.932BMP4, SOX2
regulation of organ morphogenesis (GO:2000027) 4.222BCOR, BMP4
lung alveolus development (GO:0048286) 6.152STRA6, BMP4
muscle tissue development (GO:0060537) 5.12STRA6, BMP4
regulation of protein phosphorylation (GO:0001932) 2.572BMP4, SOX2
positive regulation of protein phosphorylation (GO:0001934) 2.952BMP4, SOX2

NET-GE enrichment

Term New enriched termICP valueGenes
embryonic morphogenesis (GO:0048598) -3.720.002RARB, MAB21L2, BMP4, SOX2, OTX2
digestive tract development (GO:0048565) -5.490.004STRA6, RARB, OTX2, BMP4
embryonic digestive tract development (GO:0048566) -6.780.037STRA6, RARB
embryonic organ development (GO:0048568) -4.860.004STRA6, RARB, OTX2, BMP4, SOX2
palate development (GO:0060021) -5.380.0BCOR, OTX2, BMP4, SOX2, VAX1
positive regulation of neuron differentiation (GO:0045666) -3.980.013RARB, OTX2, BMP4, SOX2
anatomical structure morphogenesis (GO:0009653) -2.530.0STRA6, RARB, OTX2, BMP4, SOX2, HCCS, BCOR, MAB21L2
kidney epithelium development (GO:0072073) -5.540.007RARB, OTX2, BMP4, SOX2
mesenchymal cell differentiation involved in renal system development (GO:2001012) NEW7.650.049BMP4, SOX2
negative regulation of transcription from RNA polymerase II promoter (GO:0000122) -3.120.014BCOR, RARB, BMP4, SOX2, VAX1
anterior/posterior axis specification (GO:0009948) NEW6.170.034OTX2, BMP4, SOX2
blood vessel development (GO:0001568) -4.950.049STRA6, OTX2, BMP4, SOX2
specification of axis polarity (GO:0065001) NEW8.120.028BCOR, BMP4
negative regulation of chondrocyte differentiation (GO:0032331) -6.780.029RARB, BMP4
glandular epithelial cell development (GO:0002068) -6.960.029RARB, OTX2, BMP4
organ development (GO:0048513) -2.530.001STRA6, RARB, BMP4, VAX1, SOX2, BCOR, MAB21L2
genitalia development (GO:0048806) NEW6.20.001STRA6, OTX2, BMP4, SOX2
regulation of neuroblast proliferation (GO:1902692) NEW6.360.03OTX2, VAX1, SOX2
negative regulation of stem cell proliferation (GO:2000647) NEW7.330.029VAX1, BMP4
columnar/cuboidal epithelial cell development (GO:0002066) -6.290.008RARB, OTX2, BMP4
regulation of stem cell proliferation (GO:0072091) -5.60.013OTX2, BMP4, SOX2, VAX1
developmental process (GO:0032502) -1.360.005STRA6, RARB, BMP4, OTX2, VAX1, HCCS, SOX2, HMGB3, BCOR, MAB21L2
organ morphogenesis (GO:0009887) -3.550.013STRA6, RARB, OTX2, BMP4, SOX2, HCCS, BCOR
neuron fate specification (GO:0048665) NEW6.590.027OTX2, BMP4, SOX2
neuron fate commitment (GO:0048663) NEW6.120.001OTX2, BMP4, SOX2
smooth muscle tissue development (GO:0048745) -7.020.029STRA6, BMP4
lens induction in camera-type eye (GO:0060235) NEW8.340.023BMP4, SOX2
single-organism developmental process (GO:0044767) -1.490.002STRA6, RARB, OTX2, BMP4, VAX1, HCCS, SOX2, HMGB3, BCOR, MAB21L2
mesenchymal cell differentiation involved in kidney development (GO:0072161) NEW7.650.049BMP4, SOX2
embryonic hindlimb morphogenesis (GO:0035116) -6.360.026RARB, BMP4, SOX2
regulation of cartilage development (GO:0061035) -5.60.003RARB, OTX2, BMP4, SOX2
eye development (GO:0001654) -5.070.025MAB21L2, BMP4, SOX2, VAX1
tube development (GO:0035295) -4.410.027STRA6, RARB, OTX2, BMP4, SOX2
negative regulation of developmental process (GO:0051093) -3.170.02BCOR, RARB, BMP4, SOX2, VAX1
sensory organ development (GO:0007423) -4.820.0STRA6, BMP4, OTX2, SOX2, VAX1, MAB21L2
regulation of neural precursor cell proliferation (GO:2000177) NEW5.450.016OTX2, BMP4, SOX2, VAX1
anatomical structure development (GO:0048856) -1.580.018STRA6, RARB, OTX2, BMP4, VAX1, SOX2, BCOR, MAB21L2
diencephalon morphogenesis (GO:0048852) NEW9.730.001OTX2, SOX2
regulation of multicellular organismal development (GO:2000026) -2.310.043RARB, OTX2, BMP4, SOX2, VAX1, BCOR
lung alveolus development (GO:0048286) -6.150.001STRA6, BMP4, SOX2
paramesonephric duct development (GO:0061205) NEW8.630.028STRA6, BMP4
camera-type eye development (GO:0043010) -5.360.005MAB21L2, BMP4, SOX2, VAX1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.1111STRA6, RARB, OTX2, BMP4, NAA10, HCCS, VAX1, HMGB3, SOX2, BCOR, MAB21L2
intracellular part (GO:0044424) 0.2810RARB, BMP4, OTX2, NAA10, HCCS, VAX1, HMGB3, SOX2, BCOR, MAB21L2
membrane-bounded organelle (GO:0043227) 0.4710RARB, BMP4, OTX2, NAA10, HCCS, VAX1, HMGB3, SOX2, BCOR, MAB21L2
organelle (GO:0043226) 0.410RARB, BMP4, OTX2, NAA10, HCCS, VAX1, HMGB3, SOX2, BCOR, MAB21L2
intracellular organelle (GO:0043229) 0.519RARB, OTX2, NAA10, HCCS, VAX1, HMGB3, SOX2, BCOR, MAB21L2
intracellular membrane-bounded organelle (GO:0043231) 0.69RARB, OTX2, NAA10, HCCS, VAX1, HMGB3, SOX2, BCOR, MAB21L2
nucleus (GO:0005634) 1.078RARB, OTX2, VAX1, NAA10, HMGB3, SOX2, BCOR, MAB21L2
cytoplasm (GO:0005737) 1.015NAA10, HMGB3, BMP4, SOX2, RARB
protein complex (GO:0043234) 1.515STRA6, BCOR, OTX2, NAA10, SOX2
macromolecular complex (GO:0032991) 1.355STRA6, BCOR, OTX2, NAA10, SOX2
intracellular organelle part (GO:0044446) 0.815NAA10, HCCS, RARB, SOX2, BCOR
organelle part (GO:0044422) 0.795NAA10, HCCS, RARB, SOX2, BCOR
cytoplasmic part (GO:0044444) 0.824NAA10, HCCS, BCOR, SOX2
nuclear part (GO:0044428) 1.554RARB, NAA10, SOX2, BCOR
membrane (GO:0016020) 0.683STRA6, HCCS, NAA10
nucleoplasm (GO:0005654) 1.892RARB, SOX2
non-membrane-bounded organelle (GO:0043228) 1.762HMGB3, NAA10
intracellular non-membrane-bounded organelle (GO:0043232) 1.762HMGB3, NAA10
mitochondrion (GO:0005739) 2.422HCCS, BCOR

NET-GE enrichment

Term New enriched termICP valueGenes
nucleoplasm (GO:0005654) -1.890.005RARB, OTX2, BMP4, NAA10, SOX2, HMGB3, BCOR