Disease table of TYROSINEMIA OMIM ID: PS276700

Gene-disease associations table

GeneAssociated with TYROSINEMIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TATClinVar, OMIM, HUMSAVARHGNC link16q22.21PS276700
FAHClinVar, OMIM, HUMSAVARHGNC link15q25.11PS276700
HPDClinVar, OMIM, HUMSAVARHGNC link12q24.312PS276700, 140350

Download the disease annotation in CSV format

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
TATYES1NR3C10
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Metabolic pathwayshsa011002.493HPD, TAT, FAH
Tyrosine metabolismhsa003507.643HPD, TAT, FAH
Ubiquinone and other terpenoid-quinone biosynthesishsa001309.452HPD, TAT
Phenylalanine metabolismhsa003608.62HPD, TAT

NET-GE enrichment

Term New enriched termICP valueGenes
Tyrosine metabolism (hsa00350) -7.640.0HPD, TAT, FAH
Amino acid metabolismNEW4.630.001HPD, TAT, FAH
Metabolism of cofactors and vitaminsNEW5.160.028HPD, TAT
Phenylalanine metabolism (hsa00360) -8.60.001HPD, TAT
Ubiquinone and other terpenoid-quinone biosynthesis (hsa00130) -9.450.0HPD, TAT
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Metabolism of amino acids and derivativesR-HSA-712915.43HPD, TAT, FAH
Phenylalanine and tyrosine catabolismR-HSA-711829.663HPD, TAT, FAH
MetabolismR-HSA-14307282.343HPD, TAT, FAH

NET-GE enrichment

Term New enriched termICP valueGenes
Metabolism of amino acids and derivatives (R-HSA-71291) -5.40.0HPD, TAT, FAH
Phenylalanine and tyrosine catabolism (R-HSA-71182) -9.660.0HPD, TAT, FAH
Metabolism (R-HSA-1430728) -2.340.031HPD, TAT, FAH
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.053HPD, TAT, FAH
binding (GO:0005488) 0.183HPD, TAT, FAH
ion binding (GO:0043167) 1.363HPD, TAT, FAH
cation binding (GO:0043169) 1.42HPD, FAH
metal ion binding (GO:0046872) 1.412HPD, FAH
protein binding (GO:0005515) 0.462TAT, FAH
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
carboxylic acid metabolic process (GO:0019752) 3.123HPD, TAT, FAH
cellular amino acid catabolic process (GO:0009063) 5.373HPD, TAT, FAH
oxoacid metabolic process (GO:0043436) 3.123HPD, TAT, FAH
nitrogen compound metabolic process (GO:0006807) 1.133HPD, TAT, FAH
small molecule metabolic process (GO:0044281) 2.383HPD, TAT, FAH
small molecule catabolic process (GO:0044282) 3.993HPD, TAT, FAH
organic cyclic compound metabolic process (GO:1901360) 1.263HPD, TAT, FAH
organic cyclic compound catabolic process (GO:1901361) 3.733HPD, TAT, FAH
single-organism catabolic process (GO:0044712) 3.213HPD, TAT, FAH
single-organism metabolic process (GO:0044710) 1.633HPD, TAT, FAH
cellular amino acid metabolic process (GO:0006520) 4.223HPD, TAT, FAH
organic substance metabolic process (GO:0071704) 0.633HPD, TAT, FAH
single-organism process (GO:0044699) 0.483HPD, TAT, FAH
alpha-amino acid metabolic process (GO:1901605) 4.53HPD, TAT, FAH
alpha-amino acid catabolic process (GO:1901606) 5.543HPD, TAT, FAH
primary metabolic process (GO:0044238) 0.693HPD, TAT, FAH
cellular process (GO:0009987) 0.263HPD, TAT, FAH
cellular aromatic compound metabolic process (GO:0006725) 1.33HPD, TAT, FAH
organic substance catabolic process (GO:1901575) 2.453HPD, TAT, FAH
single-organism cellular process (GO:0044763) 0.653HPD, TAT, FAH
metabolic process (GO:0008152) 0.583HPD, TAT, FAH
aromatic amino acid family catabolic process (GO:0009074) 7.093HPD, TAT, FAH
L-phenylalanine metabolic process (GO:0006558) 7.433HPD, TAT, FAH
catabolic process (GO:0009056) 2.383HPD, TAT, FAH
aromatic amino acid family metabolic process (GO:0009072) 6.593HPD, TAT, FAH
tyrosine metabolic process (GO:0006570) 7.533HPD, TAT, FAH
cellular catabolic process (GO:0044248) 2.623HPD, TAT, FAH
tyrosine catabolic process (GO:0006572) 8.123HPD, TAT, FAH
organonitrogen compound metabolic process (GO:1901564) 2.323HPD, TAT, FAH
organonitrogen compound catabolic process (GO:1901565) 3.913HPD, TAT, FAH
organic acid metabolic process (GO:0006082) 3.013HPD, TAT, FAH
L-phenylalanine catabolic process (GO:0006559) 7.433HPD, TAT, FAH
carboxylic acid catabolic process (GO:0046395) 4.583HPD, TAT, FAH
organic acid catabolic process (GO:0016054) 4.443HPD, TAT, FAH
cellular metabolic process (GO:0044237) 0.693HPD, TAT, FAH
aromatic compound catabolic process (GO:0019439) 3.793HPD, TAT, FAH
glutamine family amino acid metabolic process (GO:0009064) 5.522TAT, FAH

NET-GE enrichment

Term New enriched termICP valueGenes
carboxylic acid metabolic process (GO:0019752) -3.120.008HPD, TAT, FAH
cellular amino acid catabolic process (GO:0009063) -5.370.001HPD, TAT, FAH
oxoacid metabolic process (GO:0043436) -3.120.011HPD, TAT, FAH
small molecule catabolic process (GO:0044282) -3.990.0HPD, TAT, FAH
glutamine family amino acid metabolic process (GO:0009064) -5.520.036TAT, FAH
organic cyclic compound catabolic process (GO:1901361) -3.730.012HPD, TAT, FAH
single-organism catabolic process (GO:0044712) -3.210.025HPD, TAT, FAH
cellular amino acid metabolic process (GO:0006520) -4.220.001HPD, TAT, FAH
alpha-amino acid metabolic process (GO:1901605) -4.50.005HPD, TAT, FAH
alpha-amino acid catabolic process (GO:1901606) -5.540.0HPD, TAT, FAH
aromatic amino acid family catabolic process (GO:0009074) -7.090.0HPD, TAT, FAH
L-phenylalanine metabolic process (GO:0006558) -7.430.0HPD, TAT, FAH
aromatic amino acid family metabolic process (GO:0009072) -6.590.0HPD, TAT, FAH
tyrosine metabolic process (GO:0006570) -7.530.0HPD, TAT, FAH
tyrosine catabolic process (GO:0006572) -8.120.0HPD, TAT, FAH
organonitrogen compound catabolic process (GO:1901565) -3.910.008HPD, TAT, FAH
organic acid metabolic process (GO:0006082) -3.010.012HPD, TAT, FAH
L-phenylalanine catabolic process (GO:0006559) -7.430.0HPD, TAT, FAH
carboxylic acid catabolic process (GO:0046395) -4.580.004HPD, TAT, FAH
organic acid catabolic process (GO:0016054) -4.440.004HPD, TAT, FAH
aromatic compound catabolic process (GO:0019439) -3.790.011HPD, TAT, FAH
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytosol (GO:0005829) 1.683HPD, TAT, FAH
cell part (GO:0044464) 0.113HPD, TAT, FAH
cytoplasmic part (GO:0044444) 0.823HPD, TAT, FAH
intracellular part (GO:0044424) 0.283HPD, TAT, FAH
membrane-bounded organelle (GO:0043227) 0.473HPD, TAT, FAH
organelle (GO:0043226) 0.43HPD, TAT, FAH
extracellular organelle (GO:0043230) 1.892HPD, FAH
intracellular membrane-bounded organelle (GO:0043231) 0.62HPD, TAT
extracellular exosome (GO:0070062) 1.892HPD, FAH
membrane-bounded vesicle (GO:0031988) 1.712HPD, FAH
intracellular organelle (GO:0043229) 0.512HPD, TAT
extracellular vesicle (GO:1903561) 1.892HPD, FAH
extracellular region part (GO:0044421) 1.572HPD, FAH
vesicle (GO:0031982) 1.642HPD, FAH

NET-GE enrichment

Term New enriched termICP valueGenes
cytosol (GO:0005829) -1.680.041HPD, TAT, FAH