Disease table of CYSTINURIA OMIM ID: 220100

Gene-disease associations table

GeneAssociated with CYSTINURIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SLC3A1ClinVar, OMIM, HUMSAVARHGNC link2p211220100
SLC7A9ClinVar, OMIM, HUMSAVARHGNC link19q13.111220100

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
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
SLC3A1SLC7A9Yesbinding0

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
Gene1Gene2Direct interactionMore information
SLC3A1SLC7A9yes, complexDisulfide-linked heterodimer with the amino acid transport protein SLC7A9 -uniprot
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Protein digestion and absorptionhsa049746.22SLC3A1, SLC7A9

NET-GE enrichment

Term New enriched termICP valueGenes
Digestive systemNEW4.120.037SLC3A1, SLC7A9
Protein digestion and absorption (hsa04974) -6.20.001SLC3A1, SLC7A9
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-4254074.952SLC3A1, SLC7A9
Transport of inorganic cations/anions and amino acids/oligopeptidesR-HSA-4253936.412SLC3A1, SLC7A9
Amino acid transport across the plasma membraneR-HSA-3522308.032SLC3A1, SLC7A9
Transmembrane transport of small moleculesR-HSA-3825513.792SLC3A1, SLC7A9

NET-GE enrichment

Term New enriched termICP valueGenes
Transmembrane transport of small molecules (R-HSA-382551) -3.790.042SLC3A1, SLC7A9
Cell surface interactions at the vascular wall (R-HSA-202733) NEW6.320.003SLC3A1, SLC7A9
SLC-mediated transmembrane transport (R-HSA-425407) -4.950.019SLC3A1, SLC7A9
Amino acid transport across the plasma membrane (R-HSA-352230) -8.030.0SLC3A1, SLC7A9
Basigin interactions (R-HSA-210991) NEW8.340.049SLC3A1, SLC7A9
Transport of inorganic cations/anions and amino acids/oligopeptides (R-HSA-425393) -6.410.002SLC3A1, SLC7A9
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) 2.92SLC3A1, SLC7A9
sulfur compound transmembrane transporter activity (GO:1901682) 6.442SLC3A1, SLC7A9
sulfur amino acid transmembrane transporter activity (GO:0000099) 7.792SLC3A1, SLC7A9
organic acid transmembrane transporter activity (GO:0005342) 4.972SLC3A1, SLC7A9
transporter activity (GO:0005215) 2.572SLC3A1, SLC7A9
modified amino acid transmembrane transporter activity (GO:0072349) 6.972SLC3A1, SLC7A9
transmembrane transporter activity (GO:0022857) 2.822SLC3A1, SLC7A9
substrate-specific transporter activity (GO:0022892) 2.722SLC3A1, SLC7A9
binding (GO:0005488) 0.182SLC3A1, SLC7A9
protein binding (GO:0005515) 0.462SLC3A1, SLC7A9
L-cystine transmembrane transporter activity (GO:0015184) 8.352SLC3A1, SLC7A9
amino acid transmembrane transporter activity (GO:0015171) 5.382SLC3A1, SLC7A9
carboxylic acid transmembrane transporter activity (GO:0046943) 4.992SLC3A1, SLC7A9
L-amino acid transmembrane transporter activity (GO:0015179) 6.02SLC3A1, SLC7A9

NET-GE enrichment

Term New enriched termICP valueGenes
sulfur compound transmembrane transporter activity (GO:1901682) -6.440.0SLC3A1, SLC7A9
sulfur amino acid transmembrane transporter activity (GO:0000099) -7.790.0SLC3A1, SLC7A9
organic acid transmembrane transporter activity (GO:0005342) -4.970.001SLC3A1, SLC7A9
peptide binding (GO:0042277) NEW4.220.029SLC3A1, SLC7A9
organic anion transmembrane transporter activity (GO:0008514) NEW5.310.004SLC3A1, SLC7A9
amide binding (GO:0033218) NEW4.140.03SLC3A1, SLC7A9
anion transmembrane transporter activity (GO:0008509) NEW4.430.022SLC3A1, SLC7A9
peptide antigen binding (GO:0042605) NEW6.180.001SLC3A1, SLC7A9
modified amino acid transmembrane transporter activity (GO:0072349) -6.970.0SLC3A1, SLC7A9
L-amino acid transmembrane transporter activity (GO:0015179) -6.00.0SLC3A1, SLC7A9
antigen binding (GO:0003823) NEW5.020.011SLC3A1, SLC7A9
neutral amino acid transmembrane transporter activity (GO:0015175) NEW6.240.0SLC3A1, SLC7A9
L-cystine transmembrane transporter activity (GO:0015184) -8.350.0SLC3A1, SLC7A9
amino acid transmembrane transporter activity (GO:0015171) -5.380.0SLC3A1, SLC7A9
carboxylic acid transmembrane transporter activity (GO:0046943) -4.990.001SLC3A1, SLC7A9
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
L-cystine transport (GO:0015811) 8.342SLC3A1, SLC7A9
amino acid transport (GO:0006865) 5.292SLC3A1, SLC7A9
organic acid transmembrane transport (GO:1903825) 5.542SLC3A1, SLC7A9
carboxylic acid transmembrane transport (GO:1905039) 5.62SLC3A1, SLC7A9
modified amino acid transport (GO:0072337) 6.512SLC3A1, SLC7A9
single-organism process (GO:0044699) 0.482SLC3A1, SLC7A9
localization (GO:0051179) 1.42SLC3A1, SLC7A9
nitrogen compound transport (GO:0071705) 3.542SLC3A1, SLC7A9
sulfur amino acid transport (GO:0000101) 8.122SLC3A1, SLC7A9
organic substance transport (GO:0071702) 2.152SLC3A1, SLC7A9
cellular process (GO:0009987) 0.262SLC3A1, SLC7A9
organic acid transport (GO:0015849) 4.932SLC3A1, SLC7A9
ion transport (GO:0006811) 2.662SLC3A1, SLC7A9
transport (GO:0006810) 1.512SLC3A1, SLC7A9
organic anion transport (GO:0015711) 4.072SLC3A1, SLC7A9
single-organism transport (GO:0044765) 2.182SLC3A1, SLC7A9
single-organism cellular process (GO:0044763) 0.652SLC3A1, SLC7A9
establishment of localization (GO:0051234) 1.482SLC3A1, SLC7A9
transmembrane transport (GO:0055085) 2.722SLC3A1, SLC7A9
single-organism localization (GO:1902578) 2.092SLC3A1, SLC7A9
carboxylic acid transport (GO:0046942) 4.282SLC3A1, SLC7A9
amino acid transmembrane transport (GO:0003333) 5.722SLC3A1, SLC7A9
sulfur compound transport (GO:0072348) 6.332SLC3A1, SLC7A9
anion transport (GO:0006820) 3.712SLC3A1, SLC7A9

NET-GE enrichment

Term New enriched termICP valueGenes
neutral amino acid transport (GO:0015804) NEW6.430.0SLC3A1, SLC7A9
cellular amino acid metabolic process (GO:0006520) NEW4.220.037SLC3A1, SLC7A9
organic acid transport (GO:0015849) -4.930.027SLC3A1, SLC7A9
L-cystine transport (GO:0015811) -8.340.0SLC3A1, SLC7A9
amino acid transport (GO:0006865) -5.290.003SLC3A1, SLC7A9
sulfur compound transport (GO:0072348) -6.330.0SLC3A1, SLC7A9
anion transport (GO:0006820) -3.710.038SLC3A1, SLC7A9
organic anion transport (GO:0015711) -4.070.02SLC3A1, SLC7A9
nitrogen compound transport (GO:0071705) -3.540.038SLC3A1, SLC7A9
leukocyte migration (GO:0050900) NEW4.190.038SLC3A1, SLC7A9
L-amino acid transport (GO:0015807) NEW6.020.0SLC3A1, SLC7A9
anion transmembrane transport (GO:0098656) NEW4.510.018SLC3A1, SLC7A9
modified amino acid transport (GO:0072337) -6.510.0SLC3A1, SLC7A9
amino acid transmembrane transport (GO:0003333) -5.720.001SLC3A1, SLC7A9
sulfur amino acid transport (GO:0000101) -8.120.0SLC3A1, SLC7A9
carboxylic acid transport (GO:0046942) -4.280.027SLC3A1, SLC7A9
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
plasma membrane region (GO:0098590) 2.972SLC3A1, SLC7A9
cell projection part (GO:0044463) 2.972SLC3A1, SLC7A9
plasma membrane part (GO:0044459) 1.952SLC3A1, SLC7A9
integral component of membrane (GO:0016021) 1.142SLC3A1, SLC7A9
membrane (GO:0016020) 0.682SLC3A1, SLC7A9
cell projection membrane (GO:0031253) 4.112SLC3A1, SLC7A9
brush border membrane (GO:0031526) 5.782SLC3A1, SLC7A9
membrane part (GO:0044425) 0.952SLC3A1, SLC7A9
integral component of plasma membrane (GO:0005887) 2.572SLC3A1, SLC7A9
plasma membrane (GO:0005886) 1.392SLC3A1, SLC7A9
cell part (GO:0044464) 0.112SLC3A1, SLC7A9
intrinsic component of plasma membrane (GO:0031226) 2.532SLC3A1, SLC7A9
intrinsic component of membrane (GO:0031224) 1.132SLC3A1, SLC7A9

NET-GE enrichment

Term New enriched termICP valueGenes
organelle inner membrane (GO:0019866) NEW3.560.028SLC3A1, SLC7A9
mitochondrial inner membrane (GO:0005743) NEW3.650.022SLC3A1, SLC7A9
cell projection part (GO:0044463) -2.970.044SLC3A1, SLC7A9
cell projection membrane (GO:0031253) -4.110.005SLC3A1, SLC7A9
brush border membrane (GO:0031526) -5.780.0SLC3A1, SLC7A9