Disease table of DIAPHRAGMATIC HERNIA, CONGENITAL OMIM ID: 142340

Gene-disease associations table

GeneAssociated with DIAPHRAGMATIC HERNIA, CONGENITAL inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
METClinVarHGNC link7q31.26114550, 607278, PS209850, 605074, PS220290, 142340
FREM1ClinVarHGNC link9p22.34608980, 142340, PS190440, 248450
DESClinVarHGNC link2q355181400, PS253600, PS601419, 142340, PS115200
PAX3ClinVarHGNC link2q36.14268220, PS193500, 142340, 122880

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
2q32PAX3, DES
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
2q2PAX3, DES
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
22PAX3, DES
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
PAX3YES6BCL2L1, DPYSL2, MET, CXCR4, MITF, SHH1MET
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
METYES13SP1, FOXP2, PAX3, SMAD7, TP53, SNAI2, HIF1A, MITF, SP3, YBX1, PAX5, PAX6, STAT11PAX3
DESYES1TRIM160
PAX3YES3POU3F2, STAT3, TEAD10
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
METFREM1No-1PDGFC
METDESNo-1UBC
METPAX3Yesactivation, binding2UBC, MITF
DESPAX3No-2UBC, MYL1

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
Transcriptional misregulation in cancerhsa052025.212MET, PAX3
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.184MET, FREM1, DES, PAX3
protein binding (GO:0005515) 0.463MET, DES, PAX3
organic cyclic compound binding (GO:0097159) 1.052MET, PAX3
heterocyclic compound binding (GO:1901363) 1.062MET, PAX3
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.264MET, FREM1, DES, PAX3
multicellular organismal process (GO:0032501) 1.454MET, FREM1, DES, PAX3
single-organism cellular process (GO:0044763) 0.654MET, FREM1, DES, PAX3
single-organism process (GO:0044699) 0.484MET, FREM1, DES, PAX3
developmental process (GO:0032502) 1.363MET, FREM1, PAX3
single-multicellular organism process (GO:0044707) 1.783MET, FREM1, PAX3
cellular component organization (GO:0016043) 1.243MET, DES, PAX3
single-organism developmental process (GO:0044767) 1.493MET, FREM1, PAX3
biological regulation (GO:0065007) 0.393MET, DES, PAX3
anatomical structure morphogenesis (GO:0009653) 2.533MET, FREM1, PAX3
regulation of biological process (GO:0050789) 0.453MET, DES, PAX3
cellular component organization or biogenesis (GO:0071840) 1.223MET, DES, PAX3
anatomical structure development (GO:0048856) 1.582FREM1, PAX3
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432MET, PAX3
positive regulation of metabolic process (GO:0009893) 1.742MET, PAX3
regulation of metabolic process (GO:0019222) 1.022MET, PAX3
positive regulation of biosynthetic process (GO:0009891) 2.292MET, PAX3
regulation of cellular biosynthetic process (GO:0031326) 1.382MET, PAX3
positive regulation of cellular metabolic process (GO:0031325) 1.812MET, PAX3
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292MET, PAX3
regulation of cellular metabolic process (GO:0031323) 1.072MET, PAX3
metabolic process (GO:0008152) 0.582MET, PAX3
positive regulation of gene expression (GO:0010628) 2.352MET, PAX3
multicellular organism development (GO:0007275) 2.542FREM1, PAX3
regulation of primary metabolic process (GO:0080090) 1.082MET, PAX3
cell morphogenesis involved in differentiation (GO:0000904) 4.672MET, PAX3
cell morphogenesis (GO:0000902) 4.352MET, PAX3
cellular macromolecule metabolic process (GO:0044260) 0.932MET, PAX3
cellular developmental process (GO:0048869) 1.822MET, PAX3
positive regulation of cellular biosynthetic process (GO:0031328) 2.32MET, PAX3
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462MET, PAX3
cellular component morphogenesis (GO:0032989) 3.52MET, PAX3
organic substance metabolic process (GO:0071704) 0.632MET, PAX3
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242MET, PAX3
positive regulation of biological process (GO:0048518) 1.22MET, PAX3
system process (GO:0003008) 2.32DES, PAX3
regulation of gene expression (GO:0010468) 1.372MET, PAX3
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562MET, PAX3
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352MET, PAX3
regulation of macromolecule metabolic process (GO:0060255) 1.082MET, PAX3
regulation of biosynthetic process (GO:0009889) 1.372MET, PAX3
regulation of nucleic acid-templated transcription (GO:1903506) 1.552MET, PAX3
regulation of cellular process (GO:0050794) 0.52MET, PAX3
positive regulation of transcription, DNA-templated (GO:0045893) 2.562MET, PAX3
regulation of multicellular organismal process (GO:0051239) 1.872MET, DES
regulation of RNA biosynthetic process (GO:2001141) 1.552MET, PAX3
positive regulation of macromolecule metabolic process (GO:0010604) 1.812MET, PAX3
primary metabolic process (GO:0044238) 0.692MET, PAX3
regulation of RNA metabolic process (GO:0051252) 1.522MET, PAX3
positive regulation of RNA metabolic process (GO:0051254) 2.512MET, PAX3
cellular metabolic process (GO:0044237) 0.692MET, PAX3
macromolecule metabolic process (GO:0043170) 0.832MET, PAX3
positive regulation of RNA biosynthetic process (GO:1902680) 2.542MET, PAX3
regulation of transcription, DNA-templated (GO:0006355) 1.562MET, PAX3
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392MET, PAX3
regulation of macromolecule biosynthetic process (GO:0010556) 1.432MET, PAX3
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.812MET, PAX3
positive regulation of cellular process (GO:0048522) 1.32MET, PAX3
regulation of nitrogen compound metabolic process (GO:0051171) 1.362MET, PAX3

NET-GE enrichment

Term New enriched termICP valueGenes
pigment granule organization (GO:0048753) NEW6.550.048MET, PAX3
striated muscle tissue development (GO:0014706) NEW5.230.017MET, DES, PAX3
skeletal muscle tissue development (GO:0007519) NEW5.650.005MET, DES, PAX3
melanosome organization (GO:0032438) NEW6.590.046MET, PAX3
muscle tissue development (GO:0060537) NEW5.10.025MET, DES, PAX3
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.113MET, DES, PAX3
integral component of membrane (GO:0016021) 1.142MET, FREM1
membrane (GO:0016020) 0.682MET, DES
extracellular region part (GO:0044421) 1.572FREM1, DES
intracellular organelle part (GO:0044446) 0.812DES, PAX3
intracellular organelle (GO:0043229) 0.512DES, PAX3
extracellular region (GO:0005576) 2.182MET, FREM1
organelle part (GO:0044422) 0.792DES, PAX3
plasma membrane (GO:0005886) 1.392MET, DES
intracellular part (GO:0044424) 0.282DES, PAX3
membrane part (GO:0044425) 0.952MET, FREM1
membrane-bounded organelle (GO:0043227) 0.472DES, PAX3
organelle (GO:0043226) 0.42DES, PAX3
intrinsic component of membrane (GO:0031224) 1.132MET, FREM1