Disease table of HYPERGLYCINURIA OMIM ID: 138500

Gene-disease associations table

GeneAssociated with HYPERGLYCINURIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SLC6A20ClinVar, OMIMHGNC link3p21.312138500, 242600
SLC6A19ClinVar, OMIMHGNC link5p15.333234500, 242600, 138500
SLC36A2ClinVar, OMIM, HUMSAVARHGNC link5q33.12138500, 242600

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
52SLC6A19, SLC36A2
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 (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
SLC-mediated transmembrane transportR-HSA-4254074.953SLC36A2, SLC6A19, SLC6A20
Transport of inorganic cations/anions and amino acids/oligopeptidesR-HSA-4253936.413SLC36A2, SLC6A19, SLC6A20
Amino acid transport across the plasma membraneR-HSA-3522308.033SLC36A2, SLC6A19, SLC6A20
Transmembrane transport of small moleculesR-HSA-3825513.793SLC36A2, SLC6A19, SLC6A20
Na+/Cl- dependent neurotransmitter transportersR-HSA-4426608.732SLC6A19, SLC6A20
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsR-HSA-4253666.342SLC6A20, SLC6A19

NET-GE enrichment

Term New enriched termICP valueGenes
Transmembrane transport of small molecules (R-HSA-382551) -3.790.003SLC36A2, SLC6A19, SLC6A20
Na+/Cl- dependent neurotransmitter transporters (R-HSA-442660) -8.730.0SLC6A19, SLC6A20
SLC-mediated transmembrane transport (R-HSA-425407) -4.950.001SLC36A2, SLC6A19, SLC6A20
Amino acid transport across the plasma membrane (R-HSA-352230) -8.030.0SLC36A2, SLC6A19, SLC6A20
Transport of inorganic cations/anions and amino acids/oligopeptides (R-HSA-425393) -6.410.0SLC36A2, SLC6A19, SLC6A20
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds (R-HSA-425366) -6.340.004SLC6A20, SLC6A19
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
substrate-specific transmembrane transporter activity (GO:0022891) 2.93SLC36A2, SLC6A19, SLC6A20
solute:cation symporter activity (GO:0015294) 5.153SLC36A2, SLC6A19, SLC6A20
substrate-specific transporter activity (GO:0022892) 2.723SLC36A2, SLC6A19, SLC6A20
organic acid transmembrane transporter activity (GO:0005342) 4.973SLC36A2, SLC6A19, SLC6A20
symporter activity (GO:0015293) 4.783SLC36A2, SLC6A19, SLC6A20
inorganic cation transmembrane transporter activity (GO:0022890) 3.493SLC36A2, SLC6A19, SLC6A20
transporter activity (GO:0005215) 2.573SLC36A2, SLC6A19, SLC6A20
cation transmembrane transporter activity (GO:0008324) 3.323SLC36A2, SLC6A20, SLC6A19
transmembrane transporter activity (GO:0022857) 2.823SLC36A2, SLC6A19, SLC6A20
ion transmembrane transporter activity (GO:0015075) 3.043SLC36A2, SLC6A19, SLC6A20
monovalent inorganic cation transmembrane transporter activity (GO:0015077) 3.873SLC36A2, SLC6A19, SLC6A20
carboxylic acid transmembrane transporter activity (GO:0046943) 4.993SLC36A2, SLC6A19, SLC6A20
neutral amino acid transmembrane transporter activity (GO:0015175) 6.243SLC36A2, SLC6A19, SLC6A20
secondary active transmembrane transporter activity (GO:0015291) 4.293SLC36A2, SLC6A19, SLC6A20
amino acid transmembrane transporter activity (GO:0015171) 5.383SLC36A2, SLC6A19, SLC6A20
active transmembrane transporter activity (GO:0022804) 3.853SLC36A2, SLC6A19, SLC6A20
neurotransmitter:sodium symporter activity (GO:0005328) 6.792SLC6A20, SLC6A19
sodium ion transmembrane transporter activity (GO:0015081) 4.832SLC6A19, SLC6A20
neurotransmitter transporter activity (GO:0005326) 6.522SLC6A20, SLC6A19
cation:amino acid symporter activity (GO:0005416) 6.972SLC36A2, SLC6A20
solute:sodium symporter activity (GO:0015370) 5.832SLC6A19, SLC6A20
L-amino acid transmembrane transporter activity (GO:0015179) 6.02SLC36A2, SLC6A20
metal ion transmembrane transporter activity (GO:0046873) 3.712SLC6A20, SLC6A19
glycine transmembrane transporter activity (GO:0015187) 7.662SLC36A2, SLC6A20

NET-GE enrichment

Term New enriched termICP valueGenes
neurotransmitter (GO:0005328) -6.790.0SLC6A20, SLC6A19
neurotransmitter transporter activity (GO:0005326) -6.520.0SLC6A20, SLC6A19
organic acid transmembrane transporter activity (GO:0005342) -4.970.0SLC36A2, SLC6A19, SLC6A20
sodium ion transmembrane transporter activity (GO:0015081) -4.830.005SLC6A19, SLC6A20
anion transmembrane transporter activity (GO:0008509) NEW4.430.001SLC36A2, SLC6A19, SLC6A20
transmembrane transporter activity (GO:0022857) -2.820.006SLC36A2, SLC6A19, SLC6A20
solute (GO:0015370) -5.830.002SLC6A19, SLC6A20
active transmembrane transporter activity (GO:0022804) -3.850.0SLC36A2, SLC6A19, SLC6A20
solute (GO:0015294) -5.150.0SLC36A2, SLC6A19, SLC6A20
secondary active transmembrane transporter activity (GO:0015291) -4.290.0SLC36A2, SLC6A19, SLC6A20
symporter activity (GO:0015293) -4.780.0SLC36A2, SLC6A19, SLC6A20
transporter activity (GO:0005215) -2.570.013SLC36A2, SLC6A20, SLC6A19
cation transmembrane transporter activity (GO:0008324) -3.320.018SLC36A2, SLC6A20, SLC6A19
carboxylic acid transmembrane transporter activity (GO:0046943) -4.990.0SLC36A2, SLC6A19, SLC6A20
substrate-specific transmembrane transporter activity (GO:0022891) -2.90.05SLC36A2, SLC6A19, SLC6A20
substrate-specific transporter activity (GO:0022892) -2.720.007SLC36A2, SLC6A20, SLC6A19
organic anion transmembrane transporter activity (GO:0008514) NEW5.310.0SLC36A2, SLC6A19, SLC6A20
amino acid transmembrane transporter activity (GO:0015171) -5.380.0SLC36A2, SLC6A19, SLC6A20
ion transmembrane transporter activity (GO:0015075) -3.040.04SLC36A2, SLC6A19, SLC6A20
monovalent inorganic cation transmembrane transporter activity (GO:0015077) -3.870.039SLC6A20, SLC6A19
neutral amino acid transmembrane transporter activity (GO:0015175) -6.240.0SLC36A2, SLC6A19
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
neutral amino acid transport (GO:0015804) 6.433SLC36A2, SLC6A19, SLC6A20
amino acid transport (GO:0006865) 5.293SLC36A2, SLC6A19, SLC6A20
anion transport (GO:0006820) 3.713SLC36A2, SLC6A19, SLC6A20
single-organism transport (GO:0044765) 2.183SLC36A2, SLC6A20, SLC6A19
organic acid transport (GO:0015849) 4.933SLC36A2, SLC6A20, SLC6A19
ion transport (GO:0006811) 2.663SLC36A2, SLC6A19, SLC6A20
transport (GO:0006810) 1.513SLC36A2, SLC6A19, SLC6A20
organic anion transport (GO:0015711) 4.073SLC36A2, SLC6A20, SLC6A19
localization (GO:0051179) 1.43SLC36A2, SLC6A20, SLC6A19
nitrogen compound transport (GO:0071705) 3.543SLC36A2, SLC6A19, SLC6A20
organic acid transmembrane transport (GO:1903825) 5.543SLC36A2, SLC6A19, SLC6A20
carboxylic acid transmembrane transport (GO:1905039) 5.63SLC36A2, SLC6A19, SLC6A20
single-organism localization (GO:1902578) 2.093SLC36A2, SLC6A20, SLC6A19
organic substance transport (GO:0071702) 2.153SLC36A2, SLC6A19, SLC6A20
amino acid transmembrane transport (GO:0003333) 5.723SLC36A2, SLC6A19, SLC6A20
establishment of localization (GO:0051234) 1.483SLC36A2, SLC6A19, SLC6A20
transmembrane transport (GO:0055085) 2.723SLC36A2, SLC6A19, SLC6A20
single-organism process (GO:0044699) 0.483SLC36A2, SLC6A19, SLC6A20
carboxylic acid transport (GO:0046942) 4.283SLC36A2, SLC6A20, SLC6A19
glycine transport (GO:0015816) 7.652SLC36A2, SLC6A20
proline transport (GO:0015824) 7.652SLC36A2, SLC6A20
neurotransmitter transport (GO:0006836) 5.072SLC6A19, SLC6A20

NET-GE enrichment

Term New enriched termICP valueGenes
neutral amino acid transport (GO:0015804) -6.430.0SLC36A2, SLC6A19, SLC6A20
organic substance transport (GO:0071702) -2.150.039SLC36A2, SLC6A19, SLC6A20
organic acid transport (GO:0015849) -4.930.0SLC36A2, SLC6A20, SLC6A19
amino acid transmembrane transport (GO:0003333) -5.720.002SLC36A2, SLC6A20
amino acid transport (GO:0006865) -5.290.0SLC36A2, SLC6A19, SLC6A20
glycine transport (GO:0015816) -7.650.0SLC36A2, SLC6A20
organic anion transport (GO:0015711) -4.070.0SLC36A2, SLC6A20, SLC6A19
nitrogen compound transport (GO:0071705) -3.540.001SLC36A2, SLC6A19, SLC6A20
anion transport (GO:0006820) -3.710.001SLC36A2, SLC6A19, SLC6A20
L-amino acid transport (GO:0015807) NEW6.020.002SLC36A2, SLC6A20
ion transport (GO:0006811) -2.660.013SLC36A2, SLC6A19, SLC6A20
proline transport (GO:0015824) -7.650.0SLC36A2, SLC6A20
neurotransmitter transport (GO:0006836) -5.070.004SLC6A19, SLC6A20
anion transmembrane transport (GO:0098656) NEW4.510.011SLC36A2, SLC6A20
transmembrane transport (GO:0055085) -2.720.011SLC36A2, SLC6A19, SLC6A20
carboxylic acid transport (GO:0046942) -4.280.001SLC36A2, SLC6A20, SLC6A19
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
integral component of membrane (GO:0016021) 1.143SLC36A2, SLC6A19, SLC6A20
membrane (GO:0016020) 0.683SLC36A2, SLC6A19, SLC6A20
cell part (GO:0044464) 0.113SLC36A2, SLC6A19, SLC6A20
plasma membrane (GO:0005886) 1.393SLC36A2, SLC6A19, SLC6A20
membrane part (GO:0044425) 0.953SLC36A2, SLC6A19, SLC6A20
intrinsic component of membrane (GO:0031224) 1.133SLC36A2, SLC6A19, SLC6A20
plasma membrane region (GO:0098590) 2.972SLC6A20, SLC6A19
extracellular organelle (GO:0043230) 1.892SLC36A2, SLC6A19
vesicle (GO:0031982) 1.642SLC36A2, SLC6A19
plasma membrane part (GO:0044459) 1.952SLC6A19, SLC6A20
extracellular region part (GO:0044421) 1.572SLC36A2, SLC6A19
intrinsic component of plasma membrane (GO:0031226) 2.532SLC6A19, SLC6A20
membrane-bounded vesicle (GO:0031988) 1.712SLC36A2, SLC6A19
integral component of plasma membrane (GO:0005887) 2.572SLC6A19, SLC6A20
extracellular vesicle (GO:1903561) 1.892SLC36A2, SLC6A19
membrane-bounded organelle (GO:0043227) 0.472SLC36A2, SLC6A19
organelle (GO:0043226) 0.42SLC36A2, SLC6A19
extracellular exosome (GO:0070062) 1.892SLC36A2, SLC6A19