Disease table of THIAMINE-RESPONSIVE DYSFUNCTION SYNDROME OMIM ID: PS249270

Gene-disease associations table

GeneAssociated with THIAMINE-RESPONSIVE DYSFUNCTION SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TPK1ClinVar, OMIM, HUMSAVARHGNC link7q351PS249270
SLC19A2ClinVar, OMIM, HUMSAVARHGNC link1q24.21PS249270
SLC19A3ClinVar, OMIM, HUMSAVARHGNC link2q36.31PS249270
SLC25A19ClinVar, OMIM, HUMSAVARHGNC link17q25.11PS249270

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
SLC19A3YES2SP1, SP30
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
Vitamin digestion and absorptionhsa049778.242SLC19A3, SLC19A2

NET-GE enrichment

Term New enriched termICP valueGenes
Vitamin digestion and absorption (hsa04977) -8.240.0SLC19A3, SLC19A2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Vitamin B1 (thiamin) metabolismR-HSA-19681910.983SLC19A3, SLC19A2, TPK1
Metabolism of vitamins and cofactorsR-HSA-1968546.543SLC19A3, SLC19A2, TPK1
Metabolism of water-soluble vitamins and cofactorsR-HSA-1968496.543SLC19A3, SLC19A2, TPK1
MetabolismR-HSA-14307282.343SLC19A3, SLC19A2, TPK1

NET-GE enrichment

Term New enriched termICP valueGenes
Vitamin B1 (thiamin) metabolism (R-HSA-196819) -10.980.0SLC19A3, SLC19A2, TPK1
Metabolism of vitamins and cofactors (R-HSA-196854) -6.540.0SLC19A3, SLC19A2, TPK1
Metabolism of water-soluble vitamins and cofactors (R-HSA-196849) -6.540.0SLC19A3, SLC19A2, TPK1
Metabolism (R-HSA-1430728) -2.340.039SLC19A3, SLC19A2, TPK1
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) 2.93SLC19A3, SLC19A2, SLC25A19
transporter activity (GO:0005215) 2.573SLC19A3, SLC19A2, SLC25A19
transmembrane transporter activity (GO:0022857) 2.823SLC19A3, SLC19A2, SLC25A19
substrate-specific transporter activity (GO:0022892) 2.723SLC19A3, SLC19A2, SLC25A19
thiamine transmembrane transporter activity (GO:0015234) 8.642SLC19A3, SLC19A2
uptake transmembrane transporter activity (GO:0015563) 8.352SLC19A3, SLC19A2
vitamin transporter activity (GO:0051183) 6.562SLC19A3, SLC19A2
azole transmembrane transporter activity (GO:1901474) 7.952SLC19A3, SLC19A2
azole transporter activity (GO:0045118) 7.952SLC19A3, SLC19A2
drug transmembrane transporter activity (GO:0015238) 6.852SLC19A3, SLC19A2
vitamin transmembrane transporter activity (GO:0090482) 7.792SLC19A3, SLC19A2
sulfur compound transmembrane transporter activity (GO:1901682) 6.442SLC19A3, SLC19A2
binding (GO:0005488) 0.182SLC19A2, TPK1
drug transporter activity (GO:0090484) 6.692SLC19A3, SLC19A2
thiamine uptake transmembrane transporter activity (GO:0015403) 8.642SLC19A3, SLC19A2

NET-GE enrichment

Term New enriched termICP valueGenes
substrate-specific transmembrane transporter activity (GO:0022891) -2.90.028SLC19A3, SLC19A2, SLC25A19
sulfur compound transmembrane transporter activity (GO:1901682) -6.440.001SLC19A3, SLC19A2
uptake transmembrane transporter activity (GO:0015563) -8.350.0SLC19A3, SLC19A2
vitamin transporter activity (GO:0051183) -6.560.001SLC19A3, SLC19A2
azole transmembrane transporter activity (GO:1901474) -7.950.0SLC19A3, SLC19A2
azole transporter activity (GO:0045118) -7.950.0SLC19A3, SLC19A2
thiamine transmembrane transporter activity (GO:0015234) -8.640.0SLC19A3, SLC19A2
vitamin transmembrane transporter activity (GO:0090482) -7.790.0SLC19A3, SLC19A2
transmembrane transporter activity (GO:0022857) -2.820.038SLC19A3, SLC19A2, SLC25A19
substrate-specific transporter activity (GO:0022892) -2.720.043SLC19A3, SLC19A2, SLC25A19
drug transporter activity (GO:0090484) -6.690.001SLC19A3, SLC19A2
drug transmembrane transporter activity (GO:0015238) -6.850.0SLC19A3, SLC19A2
thiamine uptake transmembrane transporter activity (GO:0015403) -8.640.0SLC19A3, SLC19A2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
organonitrogen compound metabolic process (GO:1901564) 2.324SLC19A3, SLC19A2, SLC25A19, TPK1
cellular process (GO:0009987) 0.264SLC19A3, SLC19A2, SLC25A19, TPK1
cellular metabolic process (GO:0044237) 0.694SLC19A3, SLC19A2, SLC25A19, TPK1
organic substance metabolic process (GO:0071704) 0.634SLC19A3, SLC19A2, SLC25A19, TPK1
cellular nitrogen compound metabolic process (GO:0034641) 1.224SLC19A3, SLC19A2, SLC25A19, TPK1
nitrogen compound metabolic process (GO:0006807) 1.134SLC19A3, SLC19A2, SLC25A19, TPK1
metabolic process (GO:0008152) 0.584SLC19A3, SLC19A2, SLC25A19, TPK1
single-organism process (GO:0044699) 0.484SLC19A3, SLC19A2, SLC25A19, TPK1
nitrogen compound transport (GO:0071705) 3.543SLC19A3, SLC19A2, SLC25A19
single-organism metabolic process (GO:0044710) 1.633SLC19A3, SLC19A2, TPK1
vitamin metabolic process (GO:0006766) 4.973SLC19A3, SLC19A2, TPK1
pyrimidine-containing compound metabolic process (GO:0072527) 5.363SLC19A3, SLC19A2, TPK1
transport (GO:0006810) 1.513SLC19A3, SLC19A2, SLC25A19
cellular aromatic compound metabolic process (GO:0006725) 1.33SLC19A3, SLC19A2, TPK1
water-soluble vitamin metabolic process (GO:0006767) 5.293SLC19A3, SLC19A2, TPK1
localization (GO:0051179) 1.43SLC19A3, SLC19A2, SLC25A19
thiamine-containing compound metabolic process (GO:0042723) 7.943SLC19A3, SLC19A2, TPK1
single-organism transport (GO:0044765) 2.183SLC19A3, SLC19A2, SLC25A19
single-organism cellular process (GO:0044763) 0.653SLC19A3, SLC19A2, TPK1
small molecule metabolic process (GO:0044281) 2.383SLC19A3, SLC19A2, TPK1
organic substance transport (GO:0071702) 2.153SLC19A3, SLC19A2, SLC25A19
single-organism localization (GO:1902578) 2.093SLC19A3, SLC19A2, SLC25A19
sulfur compound metabolic process (GO:0006790) 3.873SLC19A3, SLC19A2, TPK1
establishment of localization (GO:0051234) 1.483SLC19A3, SLC19A2, SLC25A19
transmembrane transport (GO:0055085) 2.723SLC19A3, SLC19A2, SLC25A19
organic cyclic compound metabolic process (GO:1901360) 1.263SLC19A3, SLC19A2, TPK1
heterocycle metabolic process (GO:0046483) 1.313SLC19A3, SLC19A2, TPK1
organic substance biosynthetic process (GO:1901576) 1.342SLC25A19, TPK1
azole transport (GO:0045117) 7.022SLC19A3, SLC19A2
vitamin transport (GO:0051180) 6.22SLC19A3, SLC19A2
organonitrogen compound biosynthetic process (GO:1901566) 2.852SLC25A19, TPK1
thiamine transport (GO:0015888) 8.342SLC19A3, SLC19A2
sulfur compound transport (GO:0072348) 6.332SLC19A3, SLC19A2
thiamine transmembrane transport (GO:0071934) 8.632SLC19A3, SLC19A2
cellular biosynthetic process (GO:0044249) 1.372SLC25A19, TPK1
biosynthetic process (GO:0009058) 1.322SLC25A19, TPK1
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592SLC25A19, TPK1
vitamin transmembrane transport (GO:0035461) 7.652SLC19A3, SLC19A2
pyrimidine-containing compound transmembrane transport (GO:0072531) 7.162SLC19A3, SLC19A2

NET-GE enrichment

Term New enriched termICP valueGenes
water-soluble vitamin metabolic process (GO:0006767) -5.290.0SLC19A3, SLC19A2, TPK1
vitamin metabolic process (GO:0006766) -4.970.0SLC19A3, SLC19A2, TPK1
azole transport (GO:0045117) -7.020.0SLC19A3, SLC19A2
vitamin transport (GO:0051180) -6.20.001SLC19A3, SLC19A2
thiamine transmembrane transport (GO:0071934) -8.630.0SLC19A3, SLC19A2
sulfur compound transport (GO:0072348) -6.330.003SLC19A3, SLC19A2
thiamine-containing compound metabolic process (GO:0042723) -7.940.0SLC19A3, SLC19A2, TPK1
nitrogen compound transport (GO:0071705) -3.540.004SLC19A3, SLC19A2, SLC25A19
sulfur compound metabolic process (GO:0006790) -3.870.001SLC19A3, SLC19A2, TPK1
thiamine transport (GO:0015888) -8.340.0SLC19A3, SLC19A2
vitamin transmembrane transport (GO:0035461) -7.650.0SLC19A3, SLC19A2
pyrimidine-containing compound transmembrane transport (GO:0072531) -7.160.0SLC19A3, SLC19A2
pyrimidine-containing compound metabolic process (GO:0072527) -5.360.0SLC19A3, SLC19A2, TPK1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.114SLC19A3, SLC19A2, SLC25A19, TPK1
membrane part (GO:0044425) 0.953SLC19A3, SLC19A2, SLC25A19
integral component of membrane (GO:0016021) 1.143SLC19A3, SLC19A2, SLC25A19
membrane (GO:0016020) 0.683SLC19A3, SLC19A2, SLC25A19
intrinsic component of membrane (GO:0031224) 1.133SLC19A3, SLC19A2, SLC25A19
intrinsic component of plasma membrane (GO:0031226) 2.532SLC19A3, SLC19A2
cytoplasmic part (GO:0044444) 0.822SLC25A19, TPK1
integral component of plasma membrane (GO:0005887) 2.572SLC19A3, SLC19A2
plasma membrane (GO:0005886) 1.392SLC19A3, SLC19A2
intracellular part (GO:0044424) 0.282SLC25A19, TPK1
plasma membrane part (GO:0044459) 1.952SLC19A3, SLC19A2