Disease table of NEU-LAXOVA SYNDROME OMIM ID: PS256520

Gene-disease associations table

GeneAssociated with NEU-LAXOVA SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PSAT1ClinVar, OMIM, HUMSAVARHGNC link9q21.22PS256520, 610992
PHGDHClinVar, OMIM, HUMSAVARHGNC link1p122601815, PS256520

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
PHGDHYES2SP1, HOXA100
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PSAT1PHGDHYes5NTRK1, UBC, MAPK6, APP, CDK2

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
PSAT1PHGDHNo-1UBC

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

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Glycine, serine and threonine metabolismhsa002607.452PSAT1, PHGDH
Biosynthesis of amino acidshsa012306.582PSAT1, PHGDH
Metabolic pathwayshsa011002.492PSAT1, PHGDH
Carbon metabolismhsa012006.032PSAT1, PHGDH

NET-GE enrichment

Term New enriched termICP valueGenes
Biosynthesis of amino acids (hsa01230) -6.580.002PSAT1, PHGDH
Carbon metabolism (hsa01200) -6.030.004PSAT1, PHGDH
Amino acid metabolismNEW4.630.049PSAT1, PHGDH
Glycine, serine and threonine metabolism (hsa00260) -7.450.0PSAT1, PHGDH
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-712915.42PSAT1, PHGDH
Serine biosynthesisR-HSA-97734711.42PSAT1, PHGDH
MetabolismR-HSA-14307282.342PSAT1, PHGDH
Amino acid synthesis and interconversion (transamination)R-HSA-706148.892PSAT1, PHGDH

NET-GE enrichment

Term New enriched termICP valueGenes
Metabolism of amino acids and derivatives (R-HSA-71291) -5.40.008PSAT1, PHGDH
Serine biosynthesis (R-HSA-977347) -11.40.0PSAT1, PHGDH
Amino acid synthesis and interconversion (transamination) (R-HSA-70614) -8.890.0PSAT1, PHGDH
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.052PSAT1, PHGDH

NET-GE enrichment

Term New enriched termICP valueGenes
cofactor binding (GO:0048037) NEW4.160.024PSAT1, PHGDH
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
carboxylic acid metabolic process (GO:0019752) 3.122PSAT1, PHGDH
cellular biosynthetic process (GO:0044249) 1.372PSAT1, PHGDH
nitrogen compound metabolic process (GO:0006807) 1.132PSAT1, PHGDH
small molecule metabolic process (GO:0044281) 2.382PSAT1, PHGDH
small molecule biosynthetic process (GO:0044283) 3.792PSAT1, PHGDH
serine family amino acid metabolic process (GO:0009069) 6.022PSAT1, PHGDH
single-organism process (GO:0044699) 0.482PSAT1, PHGDH
organic substance biosynthetic process (GO:1901576) 1.342PSAT1, PHGDH
single-organism metabolic process (GO:0044710) 1.632PSAT1, PHGDH
L-serine biosynthetic process (GO:0006564) 8.342PSAT1, PHGDH
L-serine metabolic process (GO:0006563) 7.532PSAT1, PHGDH
cellular amino acid metabolic process (GO:0006520) 4.222PSAT1, PHGDH
organic substance metabolic process (GO:0071704) 0.632PSAT1, PHGDH
alpha-amino acid metabolic process (GO:1901605) 4.52PSAT1, PHGDH
alpha-amino acid biosynthetic process (GO:1901607) 5.512PSAT1, PHGDH
primary metabolic process (GO:0044238) 0.692PSAT1, PHGDH
cellular process (GO:0009987) 0.262PSAT1, PHGDH
biosynthetic process (GO:0009058) 1.322PSAT1, PHGDH
single-organism biosynthetic process (GO:0044711) 2.82PSAT1, PHGDH
single-organism cellular process (GO:0044763) 0.652PSAT1, PHGDH
metabolic process (GO:0008152) 0.582PSAT1, PHGDH
oxoacid metabolic process (GO:0043436) 3.122PSAT1, PHGDH
serine family amino acid biosynthetic process (GO:0009070) 6.962PSAT1, PHGDH
cellular amino acid biosynthetic process (GO:0008652) 5.492PSAT1, PHGDH
organonitrogen compound metabolic process (GO:1901564) 2.322PSAT1, PHGDH
organic acid metabolic process (GO:0006082) 3.012PSAT1, PHGDH
organonitrogen compound biosynthetic process (GO:1901566) 2.852PSAT1, PHGDH
carboxylic acid biosynthetic process (GO:0046394) 4.322PSAT1, PHGDH
organic acid biosynthetic process (GO:0016053) 4.262PSAT1, PHGDH
cellular metabolic process (GO:0044237) 0.692PSAT1, PHGDH

NET-GE enrichment

Term New enriched termICP valueGenes
L-serine biosynthetic process (GO:0006564) -8.340.0PSAT1, PHGDH
L-serine metabolic process (GO:0006563) -7.530.0PSAT1, PHGDH
cellular amino acid biosynthetic process (GO:0008652) -5.490.007PSAT1, PHGDH
carboxylic acid biosynthetic process (GO:0046394) -4.320.019PSAT1, PHGDH
alpha-amino acid metabolic process (GO:1901605) -4.50.046PSAT1, PHGDH
organic acid biosynthetic process (GO:0016053) -4.260.019PSAT1, PHGDH
small molecule biosynthetic process (GO:0044283) -3.790.04PSAT1, PHGDH
serine family amino acid metabolic process (GO:0009069) -6.020.0PSAT1, PHGDH
serine family amino acid biosynthetic process (GO:0009070) -6.960.0PSAT1, PHGDH
alpha-amino acid biosynthetic process (GO:1901607) -5.510.001PSAT1, PHGDH
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
extracellular organelle (GO:0043230) 1.892PSAT1, PHGDH
vesicle (GO:0031982) 1.642PSAT1, PHGDH
cytosol (GO:0005829) 1.682PSAT1, PHGDH
cell part (GO:0044464) 0.112PSAT1, PHGDH
membrane-bounded vesicle (GO:0031988) 1.712PSAT1, PHGDH
organelle (GO:0043226) 0.42PSAT1, PHGDH
cytoplasmic part (GO:0044444) 0.822PSAT1, PHGDH
intracellular part (GO:0044424) 0.282PSAT1, PHGDH
extracellular vesicle (GO:1903561) 1.892PSAT1, PHGDH
membrane-bounded organelle (GO:0043227) 0.472PSAT1, PHGDH
extracellular region part (GO:0044421) 1.572PSAT1, PHGDH
extracellular exosome (GO:0070062) 1.892PSAT1, PHGDH