Disease table of PANCREATIC AGENESIS OMIM ID: PS260370

Gene-disease associations table

GeneAssociated with PANCREATIC AGENESIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PDX1ClinVar, OMIMHGNC link13q12.23606392, PS260370, 125853
PTF1AOMIMHGNC link10p12.22PS260370, 609069

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
PDX1YES3INS, SLC2A2, GCK0
PTF1AYES1CEL0
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
PDX1YES7ATF3, BTG2, SREBF1, USF2, MAFA, KLF11, ATF60
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
PDX1PTF1ANo-1FGF10

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 (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Regulation of gene expression in early pancreatic precursor cellsR-HSA-2107479.982PTF1A, PDX1
Regulation of beta-cell developmentR-HSA-1867127.982PTF1A, PDX1
Developmental BiologyR-HSA-12667383.482PTF1A, PDX1

NET-GE enrichment

Term New enriched termICP valueGenes
Regulation of gene expression in early pancreatic precursor cells (R-HSA-210747) -9.980.0PTF1A, PDX1
Regulation of beta-cell development (R-HSA-186712) -7.980.0PTF1A, PDX1
Developmental Biology (R-HSA-1266738) -3.480.04PTF1A, PDX1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
sequence-specific DNA binding (GO:0043565) 2.792PTF1A, PDX1
sequence-specific double-stranded DNA binding (GO:1990837) 3.22PTF1A, PDX1
nucleic acid binding transcription factor activity (GO:0001071) 2.652PTF1A, PDX1
protein binding (GO:0005515) 0.462PTF1A, PDX1
transcription regulatory region DNA binding (GO:0044212) 3.032PTF1A, PDX1
transcription factor activity, sequence-specific DNA binding (GO:0003700) 2.652PTF1A, PDX1
regulatory region nucleic acid binding (GO:0001067) 3.032PTF1A, PDX1
regulatory region DNA binding (GO:0000975) 3.032PTF1A, PDX1
RNA polymerase II regulatory region DNA binding (GO:0001012) 3.362PTF1A, PDX1
protein dimerization activity (GO:0046983) 2.722PTF1A, PDX1
macromolecular complex binding (GO:0044877) 2.612PTF1A, PDX1
binding (GO:0005488) 0.182PTF1A, PDX1
nucleic acid binding (GO:0003676) 1.442PTF1A, PDX1
DNA binding (GO:0003677) 1.922PTF1A, PDX1
transcription regulatory region sequence-specific DNA binding (GO:0000976) 3.242PTF1A, PDX1
double-stranded DNA binding (GO:0003690) 3.092PTF1A, PDX1
chromatin binding (GO:0003682) 3.642PTF1A, PDX1
organic cyclic compound binding (GO:0097159) 1.052PTF1A, PDX1
heterocyclic compound binding (GO:1901363) 1.062PTF1A, PDX1
RNA polymerase II transcription factor activity, sequence-specific DNA binding (GO:0000981) 3.292PTF1A, PDX1
RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977) 3.372PTF1A, PDX1

NET-GE enrichment

Term New enriched termICP valueGenes
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) NEW4.310.034PTF1A, PDX1
transcription regulatory region DNA binding (GO:0044212) -3.030.023PTF1A, PDX1
chromatin binding (GO:0003682) -3.640.016PTF1A, PDX1
regulatory region nucleic acid binding (GO:0001067) -3.030.024PTF1A, PDX1
regulatory region DNA binding (GO:0000975) -3.030.024PTF1A, PDX1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562PTF1A, PDX1
anatomical structure development (GO:0048856) 1.582PTF1A, PDX1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432PTF1A, PDX1
regulation of primary metabolic process (GO:0080090) 1.082PTF1A, PDX1
regulation of metabolic process (GO:0019222) 1.022PTF1A, PDX1
positive regulation of biosynthetic process (GO:0009891) 2.292PTF1A, PDX1
regulation of cellular biosynthetic process (GO:0031326) 1.382PTF1A, PDX1
exocrine pancreas development (GO:0031017) 7.652PTF1A, PDX1
pancreas development (GO:0031016) 6.472PTF1A, PDX1
regulation of cellular metabolic process (GO:0031323) 1.072PTF1A, PDX1
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292PTF1A, PDX1
nucleic acid metabolic process (GO:0090304) 1.462PTF1A, PDX1
cellular biosynthetic process (GO:0044249) 1.372PTF1A, PDX1
cellular nitrogen compound metabolic process (GO:0034641) 1.222PTF1A, PDX1
nitrogen compound metabolic process (GO:0006807) 1.132PTF1A, PDX1
positive regulation of gene expression (GO:0010628) 2.352PTF1A, PDX1
signal transduction (GO:0007165) 1.282PTF1A, PDX1
cellular macromolecule biosynthetic process (GO:0034645) 1.662PTF1A, PDX1
regulation of macromolecule biosynthetic process (GO:0010556) 1.432PTF1A, PDX1
anatomical structure morphogenesis (GO:0009653) 2.532PTF1A, PDX1
organic cyclic compound biosynthetic process (GO:1901362) 1.662PTF1A, PDX1
regulation of biological process (GO:0050789) 0.452PTF1A, PDX1
nucleic acid-templated transcription (GO:0097659) 1.912PTF1A, PDX1
RNA biosynthetic process (GO:0032774) 1.842PTF1A, PDX1
positive regulation of metabolic process (GO:0009893) 1.742PTF1A, PDX1
organic substance biosynthetic process (GO:1901576) 1.342PTF1A, PDX1
positive regulation of macromolecule metabolic process (GO:0010604) 1.812PTF1A, PDX1
cellular macromolecule metabolic process (GO:0044260) 0.932PTF1A, PDX1
cellular developmental process (GO:0048869) 1.822PTF1A, PDX1
positive regulation of cellular biosynthetic process (GO:0031328) 2.32PTF1A, PDX1
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462PTF1A, PDX1
multicellular organism development (GO:0007275) 2.542PTF1A, PDX1
organic substance metabolic process (GO:0071704) 0.632PTF1A, PDX1
animal organ development (GO:0048513) 2.532PTF1A, PDX1
biological regulation (GO:0065007) 0.392PTF1A, PDX1
organic cyclic compound metabolic process (GO:1901360) 1.262PTF1A, PDX1
transcription from RNA polymerase II promoter (GO:0006366) 3.382PTF1A, PDX1
positive regulation of biological process (GO:0048518) 1.22PTF1A, PDX1
regulation of gene expression (GO:0010468) 1.372PTF1A, PDX1
system development (GO:0048731) 2.922PTF1A, PDX1
positive regulation of cellular metabolic process (GO:0031325) 1.812PTF1A, PDX1
heterocycle biosynthetic process (GO:0018130) 1.72PTF1A, PDX1
developmental process (GO:0032502) 1.362PTF1A, PDX1
cell differentiation (GO:0030154) 2.142PTF1A, PDX1
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352PTF1A, PDX1
nucleobase-containing compound metabolic process (GO:0006139) 1.352PTF1A, PDX1
regulation of macromolecule metabolic process (GO:0060255) 1.082PTF1A, PDX1
cellular aromatic compound metabolic process (GO:0006725) 1.32PTF1A, PDX1
multicellular organismal process (GO:0032501) 1.452PTF1A, PDX1
cellular process (GO:0009987) 0.262PTF1A, PDX1
regulation of biosynthetic process (GO:0009889) 1.372PTF1A, PDX1
regulation of nucleic acid-templated transcription (GO:1903506) 1.552PTF1A, PDX1
regulation of cellular process (GO:0050794) 0.52PTF1A, PDX1
single-organism developmental process (GO:0044767) 1.492PTF1A, PDX1
biosynthetic process (GO:0009058) 1.322PTF1A, PDX1
macromolecule biosynthetic process (GO:0009059) 1.612PTF1A, PDX1
single-organism cellular process (GO:0044763) 0.652PTF1A, PDX1
positive regulation of transcription, DNA-templated (GO:0045893) 2.562PTF1A, PDX1
metabolic process (GO:0008152) 0.582PTF1A, PDX1
regulation of RNA biosynthetic process (GO:2001141) 1.552PTF1A, PDX1
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722PTF1A, PDX1
heterocycle metabolic process (GO:0046483) 1.312PTF1A, PDX1
RNA metabolic process (GO:0016070) 1.592PTF1A, PDX1
primary metabolic process (GO:0044238) 0.692PTF1A, PDX1
single-organism process (GO:0044699) 0.482PTF1A, PDX1
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592PTF1A, PDX1
single-multicellular organism process (GO:0044707) 1.782PTF1A, PDX1
regulation of RNA metabolic process (GO:0051252) 1.522PTF1A, PDX1
positive regulation of RNA metabolic process (GO:0051254) 2.512PTF1A, PDX1
cellular metabolic process (GO:0044237) 0.692PTF1A, PDX1
macromolecule metabolic process (GO:0043170) 0.832PTF1A, PDX1
positive regulation of RNA biosynthetic process (GO:1902680) 2.542PTF1A, PDX1
regulation of transcription, DNA-templated (GO:0006355) 1.562PTF1A, PDX1
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392PTF1A, PDX1
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242PTF1A, PDX1
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.812PTF1A, PDX1
transcription, DNA-templated (GO:0006351) 1.912PTF1A, PDX1
aromatic compound biosynthetic process (GO:0019438) 1.72PTF1A, PDX1
gland development (GO:0048732) 4.152PTF1A, PDX1
positive regulation of cellular process (GO:0048522) 1.32PTF1A, PDX1
regulation of nitrogen compound metabolic process (GO:0051171) 1.362PTF1A, PDX1

NET-GE enrichment

Term New enriched termICP valueGenes
exocrine pancreas development (GO:0031017) -7.650.0PTF1A, PDX1
endocrine pancreas development (GO:0031018) NEW6.360.007PTF1A, PDX1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012PTF1A, PDX1
intracellular membrane-bounded organelle (GO:0043231) 0.62PTF1A, PDX1
nucleus (GO:0005634) 1.072PTF1A, PDX1
cell part (GO:0044464) 0.112PTF1A, PDX1
intracellular (GO:0005622) 2.372PTF1A, PDX1
intracellular organelle (GO:0043229) 0.512PTF1A, PDX1
intracellular part (GO:0044424) 0.282PTF1A, PDX1
membrane-bounded organelle (GO:0043227) 0.472PTF1A, PDX1
organelle (GO:0043226) 0.42PTF1A, PDX1