Disease table of CEREBRAL CREATINE DEFICIENCY SYNDROME OMIM ID: PS300352

Gene-disease associations table

GeneAssociated with CEREBRAL CREATINE DEFICIENCY SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SLC6A8ClinVar, OMIM, HUMSAVARHGNC linkXq281PS300352
GATMClinVar, OMIM, HUMSAVARHGNC link15q21.11PS300352
GAMTClinVar, OMIM, HUMSAVARHGNC link19p13.31PS300352

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
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
Glycine, serine and threonine metabolismhsa002607.452GATM, GAMT
Metabolic pathwayshsa011002.492GATM, GAMT
Arginine and proline metabolismhsa003306.842GATM, GAMT

NET-GE enrichment

Term New enriched termICP valueGenes
Glycine, serine and threonine metabolism (hsa00260) -7.450.0GATM, GAMT
Amino acid metabolismNEW4.630.011GATM, GAMT
Arginine and proline metabolism (hsa00330) -6.840.001GATM, GAMT
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-712915.43SLC6A8, GATM, GAMT
Creatine metabolismR-HSA-712889.663SLC6A8, GATM, GAMT
MetabolismR-HSA-14307282.343SLC6A8, GATM, GAMT

NET-GE enrichment

Term New enriched termICP valueGenes
Metabolism of amino acids and derivatives (R-HSA-71291) -5.40.0SLC6A8, GATM, GAMT
Creatine metabolism (R-HSA-71288) -9.660.0SLC6A8, GATM, GAMT
Metabolism (R-HSA-1430728) -2.340.031SLC6A8, GATM, GAMT
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.052GATM, GAMT
transferase activity (GO:0016740) 1.952GATM, GAMT
transferase activity, transferring one-carbon groups (GO:0016741) 4.32GATM, GAMT

NET-GE enrichment

Term New enriched termICP valueGenes
transferase activity, transferring one-carbon groups (GO:0016741) -4.30.021GATM, GAMT
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
organic substance metabolic process (GO:0071704) 0.633GATM, SLC6A8, GAMT
creatine metabolic process (GO:0006600) 7.433GATM, SLC6A8, GAMT
nitrogen compound metabolic process (GO:0006807) 1.133SLC6A8, GATM, GAMT
organonitrogen compound metabolic process (GO:1901564) 2.323GATM, SLC6A8, GAMT
metabolic process (GO:0008152) 0.583GATM, SLC6A8, GAMT
organic substance biosynthetic process (GO:1901576) 1.342GATM, GAMT
multicellular organismal process (GO:0032501) 1.452SLC6A8, GAMT
organonitrogen compound biosynthetic process (GO:1901566) 2.852GATM, GAMT
muscle contraction (GO:0006936) 4.372SLC6A8, GAMT
cellular modified amino acid biosynthetic process (GO:0042398) 6.072GATM, GAMT
creatine biosynthetic process (GO:0006601) 9.042GATM, GAMT
biosynthetic process (GO:0009058) 1.322GATM, GAMT
muscle system process (GO:0003012) 4.182SLC6A8, GAMT
single-organism process (GO:0044699) 0.482SLC6A8, GAMT
system process (GO:0003008) 2.32SLC6A8, GAMT

NET-GE enrichment

Term New enriched termICP valueGenes
cellular amino acid biosynthetic process (GO:0008652) NEW5.490.012GATM, GAMT
cellular amino acid metabolic process (GO:0006520) NEW4.220.002GATM, SLC6A8, GAMT
cellular modified amino acid metabolic process (GO:0006575) NEW4.690.002GATM, SLC6A8, GAMT
muscle contraction (GO:0006936) -4.370.034SLC6A8, GAMT
cellular modified amino acid biosynthetic process (GO:0042398) -6.070.007GATM, GAMT
creatine metabolic process (GO:0006600) -7.430.0SLC6A8, GATM, GAMT
creatine biosynthetic process (GO:0006601) -9.040.0GATM, GAMT
carboxylic acid metabolic process (GO:0019752) NEW3.120.012SLC6A8, GATM, GAMT
organic acid metabolic process (GO:0006082) NEW3.010.018GATM, SLC6A8, GAMT
oxoacid metabolic process (GO:0043436) NEW3.120.018GATM, SLC6A8, GAMT
alpha-amino acid metabolic process (GO:1901605) NEW4.50.0SLC6A8, GATM, GAMT
alpha-amino acid biosynthetic process (GO:1901607) NEW5.510.009GATM, GAMT
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.113SLC6A8, GATM, GAMT
cytoplasm (GO:0005737) 1.012GATM, GAMT
extracellular organelle (GO:0043230) 1.892GATM, GAMT
vesicle (GO:0031982) 1.642GATM, GAMT
extracellular region part (GO:0044421) 1.572GATM, GAMT
membrane (GO:0016020) 0.682GATM, SLC6A8
cytoplasmic part (GO:0044444) 0.822GATM, GAMT
membrane-bounded vesicle (GO:0031988) 1.712GATM, GAMT
intracellular organelle (GO:0043229) 0.512GATM, GAMT
intracellular membrane-bounded organelle (GO:0043231) 0.62GATM, GAMT
intracellular part (GO:0044424) 0.282GATM, GAMT
extracellular vesicle (GO:1903561) 1.892GATM, GAMT
membrane-bounded organelle (GO:0043227) 0.472GATM, GAMT
organelle (GO:0043226) 0.42GATM, GAMT
extracellular exosome (GO:0070062) 1.892GATM, GAMT