Gene | Associated with GASTROINTESTINAL STROMAL TUMOR in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
---|---|---|---|---|---|
PDGFRA | ClinVar, OMIM, HUMSAVAR | HGNC link | 4q12 | 3 | 119540, 606764, 607685 |
MTHFR | ClinVar | HGNC link | 1p36.22 | 5 | 181500, PS188050, 606764, 236250, 601634 |
KIT | ClinVar, OMIM, HUMSAVAR | HGNC link | 4q12 | 5 | 601626, 172800, 273300, 606764, 154800 |
MTR | ClinVar | HGNC link | 1q43 | 3 | 601634, 250940, 606764 |
MTRR | ClinVar | HGNC link | 5p15.31 | 3 | 601634, 236270, 606764 |
SDHC | ClinVar, OMIM | HGNC link | 1q23.3 | 4 | 604287, 606864, PS168000, 606764 |
SDHB | ClinVar, OMIM | HGNC link | 1p36.13 | 6 | 171300, 604287, 606764, 606864, PS168000, PS158350 |
FOLR1 | ClinVar | HGNC link | 11q13.4 | 2 | 613068, 606764 |
SHMT1 | ClinVar | HGNC link | 17p11.2 | 1 | 606764 |
SLC19A1 | ClinVar | HGNC link | 21q22.3 | 1 | 606764 |
Download the disease annotation in CSV format
Common tandem group | Number of genes in this tandem group associated to this disease | Genes in this tandem group associated to this disease |
---|---|---|
Group 212 | 2 | KIT, PDGFRA |
Shared sub_band | Number of genes associated with the disease | Genes associated with the disease |
---|---|---|
4q12 | 2 | KIT, PDGFRA |
Shared band | Number of genes associated with the disease | Genes associated with the disease |
---|---|---|
4q12 | 2 | KIT, PDGFRA |
1p36 | 2 | SDHB, MTHFR |
Shared region | Number of genes associated with the disease | Genes associated with the disease |
---|---|---|
4q1 | 2 | KIT, PDGFRA |
1p3 | 2 | SDHB, MTHFR |
regulated gene | associated to this disease | # TFs | TFs | # TFs associated with this disease | TFs associated with this disease |
---|---|---|---|---|---|
PDGFRA | YES | 5 | CEBPD, PAX1, SMAD4, GLI2, GLI1 | 0 | |
MTHFR | YES | 1 | NFE2L2 | 0 | |
KIT | YES | 4 | SP1, TFAP2A, MITF, RBMX | 0 | |
SDHB | YES | 4 | NRF1, NFE2L2, PLAGL1, HIF1A | 0 | |
FOLR1 | YES | 1 | SP1 | 0 | |
SHMT1 | YES | 1 | MYC | 0 | |
SLC19A1 | YES | 7 | SP1, CREB1, CEBPB, JUN, TFAP2A, USF1, USF2 | 0 |
Gene1 | Gene2 | Direct Interaction | Number of shared interactors | Shared genes in interaction |
---|---|---|---|---|
PDGFRA | KIT | Yes | 8 | PLCG1, CRK, CBL, PIK3R1, CRKL, PDGFRA, GRB2, STAT1 |
PDGFRA | MTR | No | 1 | NTRK1 |
PDGFRA | SHMT1 | No | 3 | SNX2, SNX6, STAT1 |
KIT | SHMT1 | No | 1 | STAT1 |
MTR | MTRR | No | 1 | ELAVL1 |
SDHC | SDHB | Yes | 2 | MTCH2, SDHA |
SDHB | FOLR1 | No | 1 | CUL3 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Gene1 | Gene2 | Direct interaction | More information |
---|---|---|---|
SDHB | SDHC | yes, complex | Components of complex composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD. [UniProt] |
KEGG term | KEGG term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
Metabolic pathways | hsa01100 | 2.49 | 5 | SHMT1, SDHB, MTR, SDHC, MTHFR |
Carbon metabolism | hsa01200 | 6.03 | 4 | SHMT1, SDHC, SDHB, MTHFR |
Endocytosis | hsa04144 | 4.92 | 3 | FOLR1, PDGFRA, KIT |
One carbon pool by folate | hsa00670 | 8.52 | 3 | MTR, SHMT1, MTHFR |
Parkinson's disease | hsa05012 | 5.59 | 2 | SDHC, SDHB |
Oxidative phosphorylation | hsa00190 | 5.69 | 2 | SDHC, SDHB |
Non-alcoholic fatty liver disease (NAFLD) | hsa04932 | 5.51 | 2 | SDHC, SDHB |
Pathways in cancer | hsa05200 | 3.98 | 2 | PDGFRA, KIT |
Rap1 signaling pathway | hsa04015 | 4.97 | 2 | PDGFRA, KIT |
Ras signaling pathway | hsa04014 | 4.9 | 2 | PDGFRA, KIT |
Central carbon metabolism in cancer | hsa05230 | 6.7 | 2 | PDGFRA, KIT |
Cytokine-cytokine receptor interaction | hsa04060 | 4.67 | 2 | PDGFRA, KIT |
Biosynthesis of amino acids | hsa01230 | 6.58 | 2 | MTR, SHMT1 |
Huntington's disease | hsa05016 | 5.17 | 2 | SDHC, SDHB |
Alzheimer's disease | hsa05010 | 5.34 | 2 | SDHC, SDHB |
Citrate cycle (TCA cycle) | hsa00020 | 7.86 | 2 | SDHC, SDHB |
PI3K-Akt signaling pathway | hsa04151 | 4.21 | 2 | PDGFRA, KIT |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
Carbon metabolism (hsa01200) | - | 6.03 | 0.003 | SHMT1, SDHC, SDHB, MTHFR |
Citrate cycle (TCA cycle) (hsa00020) | - | 7.86 | 0.039 | SDHC, SDHB |
One carbon pool by folate (hsa00670) | - | 8.52 | 0.001 | MTR, SHMT1, MTHFR |
REACTOME term | REACTOME term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
Metabolism | R-HSA-1430728 | 2.34 | 7 | SLC19A1, MTR, MTHFR, SDHC, SHMT1, MTRR, SDHB |
Metabolism of vitamins and cofactors | R-HSA-196854 | 6.54 | 5 | SLC19A1, MTR, MTRR, SHMT1, MTHFR |
Metabolism of water-soluble vitamins and cofactors | R-HSA-196849 | 6.54 | 5 | SLC19A1, MTR, MTRR, SHMT1, MTHFR |
Disease | R-HSA-1643685 | 3.33 | 4 | MTR, KIT, PDGFRA, MTRR |
Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 | 3 | MTR, MTRR, SHMT1 |
Metabolism of folate and pterines | R-HSA-196757 | 9.81 | 3 | SLC19A1, SHMT1, MTHFR |
Interleukin-2 signaling | R-HSA-451927 | 5.05 | 2 | PDGFRA, KIT |
Signaling by the B Cell Receptor (BCR) | R-HSA-983705 | 4.62 | 2 | PDGFRA, KIT |
GAB1 signalosome | R-HSA-180292 | 6.31 | 2 | PDGFRA, KIT |
Developmental Biology | R-HSA-1266738 | 3.48 | 2 | PDGFRA, KIT |
Signaling by VEGF | R-HSA-194138 | 4.66 | 2 | PDGFRA, KIT |
FCERI mediated MAPK activation | R-HSA-2871796 | 4.32 | 2 | PDGFRA, KIT |
IRS-mediated signalling | R-HSA-112399 | 4.87 | 2 | PDGFRA, KIT |
VEGFA-VEGFR2 Pathway | R-HSA-4420097 | 4.7 | 2 | PDGFRA, KIT |
Pyruvate metabolism and Citric Acid (TCA) cycle | R-HSA-71406 | 7.56 | 2 | SDHC, SDHB |
Citric acid cycle (TCA cycle) | R-HSA-71403 | 8.73 | 2 | SDHC, SDHB |
Cobalamin (Cbl, vitamin B12) transport and metabolism | R-HSA-196741 | 8.73 | 2 | MTR, MTRR |
Signaling by EGFR | R-HSA-177929 | 4.59 | 2 | PDGFRA, KIT |
Methylation | R-HSA-156581 | 9.66 | 2 | MTR, MTRR |
Phase II conjugation | R-HSA-156580 | 6.52 | 2 | MTR, MTRR |
PI-3K cascade:FGFR3 | R-HSA-5654710 | 6.37 | 2 | PDGFRA, KIT |
Defects in cobalamin (B12) metabolism | R-HSA-3296469 | 9.28 | 2 | MTR, MTRR |
DAP12 interactions | R-HSA-2172127 | 4.56 | 2 | PDGFRA, KIT |
Downstream signaling of activated FGFR4 | R-HSA-5654716 | 4.71 | 2 | PDGFRA, KIT |
Signaling by ERBB2 | R-HSA-1227986 | 4.66 | 2 | PDGFRA, KIT |
VEGFR2 mediated cell proliferation | R-HSA-5218921 | 5.07 | 2 | PDGFRA, KIT |
PI3K/AKT activation | R-HSA-198203 | 6.32 | 2 | PDGFRA, KIT |
Immune System | R-HSA-168256 | 2.37 | 2 | PDGFRA, KIT |
Frs2-mediated activation | R-HSA-170968 | 5.12 | 2 | PDGFRA, KIT |
PI3K events in ERBB2 signaling | R-HSA-1963642 | 6.37 | 2 | PDGFRA, KIT |
Downstream signal transduction | R-HSA-186763 | 4.65 | 2 | PDGFRA, KIT |
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE | R-HSA-3359467 | 11.98 | 2 | MTR, MTRR |
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG | R-HSA-3359469 | 11.98 | 2 | MTR, MTRR |
Role of LAT2/NTAL/LAB on calcium mobilization | R-HSA-2730905 | 4.95 | 2 | PDGFRA, KIT |
Signalling to p38 via RIT and RIN | R-HSA-187706 | 5.12 | 2 | PDGFRA, KIT |
FRS-mediated FGFR2 signaling | R-HSA-5654700 | 5.14 | 2 | PDGFRA, KIT |
FRS-mediated FGFR4 signaling | R-HSA-5654712 | 5.14 | 2 | PDGFRA, KIT |
FRS-mediated FGFR3 signaling | R-HSA-5654706 | 5.14 | 2 | PDGFRA, KIT |
Downstream signaling of activated FGFR3 | R-HSA-5654708 | 4.71 | 2 | PDGFRA, KIT |
Fc epsilon receptor (FCERI) signaling | R-HSA-2454202 | 4.03 | 2 | PDGFRA, KIT |
Interleukin receptor SHC signaling | R-HSA-912526 | 5.09 | 2 | PDGFRA, KIT |
Innate Immune System | R-HSA-168249 | 3.17 | 2 | PDGFRA, KIT |
Defects in vitamin and cofactor metabolism | R-HSA-3296482 | 8.52 | 2 | MTR, MTRR |
NGF signalling via TRKA from the plasma membrane | R-HSA-187037 | 4.51 | 2 | PDGFRA, KIT |
Prolonged ERK activation events | R-HSA-169893 | 5.11 | 2 | PDGFRA, KIT |
Signaling by FGFR2 | R-HSA-5654738 | 4.68 | 2 | PDGFRA, KIT |
GRB2 events in EGFR signaling | R-HSA-179812 | 5.15 | 2 | PDGFRA, KIT |
Signaling by FGFR1 | R-HSA-5654736 | 4.69 | 2 | PDGFRA, KIT |
PI3K events in ERBB4 signaling | R-HSA-1250342 | 6.37 | 2 | PDGFRA, KIT |
Diseases of metabolism | R-HSA-5668914 | 6.57 | 2 | MTR, MTRR |
Axon guidance | R-HSA-422475 | 3.93 | 2 | PDGFRA, KIT |
Gastrin-CREB signalling pathway via PKC and MAPK | R-HSA-881907 | 4.26 | 2 | PDGFRA, KIT |
Biological oxidations | R-HSA-211859 | 5.55 | 2 | MTR, MTRR |
The citric acid (TCA) cycle and respiratory electron transport | R-HSA-1428517 | 5.71 | 2 | SDHC, SDHB |
Signaling by Leptin | R-HSA-2586552 | 5.1 | 2 | PDGFRA, KIT |
Constitutive Signaling by Aberrant PI3K in Cancer | R-HSA-2219530 | 7.05 | 2 | PDGFRA, KIT |
IGF1R signaling cascade | R-HSA-2428924 | 4.85 | 2 | PDGFRA, KIT |
IRS-related events triggered by IGF1R | R-HSA-2428928 | 4.85 | 2 | PDGFRA, KIT |
Signaling by Insulin receptor | R-HSA-74752 | 4.73 | 2 | PDGFRA, KIT |
Insulin receptor signalling cascade | R-HSA-74751 | 4.85 | 2 | PDGFRA, KIT |
Downstream signaling of activated FGFR1 | R-HSA-5654687 | 4.71 | 2 | PDGFRA, KIT |
PI-3K cascade:FGFR4 | R-HSA-5654720 | 6.37 | 2 | PDGFRA, KIT |
PI-3K cascade:FGFR1 | R-HSA-5654689 | 6.37 | 2 | PDGFRA, KIT |
Sulfur amino acid metabolism | R-HSA-1614635 | 8.46 | 2 | MTR, MTRR |
Downstream signaling events of B Cell Receptor (BCR) | R-HSA-1168372 | 5.59 | 2 | PDGFRA, KIT |
PI3K/AKT Signaling in Cancer | R-HSA-2219528 | 6.56 | 2 | PDGFRA, KIT |
Diseases of signal transduction | R-HSA-5663202 | 4.89 | 2 | PDGFRA, KIT |
GRB2 events in ERBB2 signaling | R-HSA-1963640 | 5.15 | 2 | PDGFRA, KIT |
Signalling to RAS | R-HSA-167044 | 5.08 | 2 | PDGFRA, KIT |
PI-3K cascade:FGFR2 | R-HSA-5654695 | 6.37 | 2 | PDGFRA, KIT |
Downstream signaling of activated FGFR2 | R-HSA-5654696 | 4.71 | 2 | PDGFRA, KIT |
SHC1 events in EGFR signaling | R-HSA-180336 | 5.15 | 2 | PDGFRA, KIT |
FRS-mediated FGFR1 signaling | R-HSA-5654693 | 5.14 | 2 | PDGFRA, KIT |
SHC1 events in ERBB2 signaling | R-HSA-1250196 | 5.15 | 2 | PDGFRA, KIT |
ARMS-mediated activation | R-HSA-170984 | 5.12 | 2 | PDGFRA, KIT |
SHC1 events in ERBB4 signaling | R-HSA-1250347 | 5.15 | 2 | PDGFRA, KIT |
Signaling by PDGF | R-HSA-186797 | 4.53 | 2 | PDGFRA, KIT |
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) | R-HSA-2404192 | 4.85 | 2 | PDGFRA, KIT |
Signaling by Interleukins | R-HSA-449147 | 4.71 | 2 | PDGFRA, KIT |
Cytokine Signaling in Immune system | R-HSA-1280215 | 3.74 | 2 | PDGFRA, KIT |
SOS-mediated signalling | R-HSA-112412 | 5.15 | 2 | PDGFRA, KIT |
Signaling by ERBB4 | R-HSA-1236394 | 4.7 | 2 | PDGFRA, KIT |
MAPK1/MAPK3 signaling | R-HSA-5684996 | 5.11 | 2 | PDGFRA, KIT |
Adaptive Immune System | R-HSA-1280218 | 3.19 | 2 | PDGFRA, KIT |
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | R-HSA-163200 | 6.12 | 2 | SDHC, SDHB |
MAPK family signaling cascades | R-HSA-5683057 | 4.89 | 2 | PDGFRA, KIT |
PIP3 activates AKT signaling | R-HSA-1257604 | 6.37 | 2 | PDGFRA, KIT |
RAF/MAP kinase cascade | R-HSA-5673001 | 5.15 | 2 | PDGFRA, KIT |
Signaling by FGFR4 | R-HSA-5654743 | 4.69 | 2 | PDGFRA, KIT |
Signaling by FGFR3 | R-HSA-5654741 | 4.69 | 2 | PDGFRA, KIT |
Respiratory electron transport | R-HSA-611105 | 6.44 | 2 | SDHC, SDHB |
Signaling by FGFR | R-HSA-190236 | 4.67 | 2 | PDGFRA, KIT |
Signaling by SCF-KIT | R-HSA-1433557 | 4.73 | 2 | PDGFRA, KIT |
NCAM signaling for neurite out-growth | R-HSA-375165 | 4.9 | 2 | PDGFRA, KIT |
DAP12 signaling | R-HSA-2424491 | 4.64 | 2 | PDGFRA, KIT |
Interleukin-3, 5 and GM-CSF signaling | R-HSA-512988 | 4.99 | 2 | PDGFRA, KIT |
Signalling by NGF | R-HSA-166520 | 4.23 | 2 | PDGFRA, KIT |
Signaling by GPCR | R-HSA-372790 | 2.68 | 2 | PDGFRA, KIT |
Signalling to ERKs | R-HSA-187687 | 5.04 | 2 | PDGFRA, KIT |
Signal Transduction | R-HSA-162582 | 1.78 | 2 | PDGFRA, KIT |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
succinate dehydrogenase complex (ubiquinone) (GO:0045257) | - | 8.42 | 0.0 | SDHC, SDHB |
mitochondrial respiratory chain complex II (GO:0005749) | - | 8.42 | 0.0 | SDHC, SDHB |
fumarate reductase complex (GO:0045283) | - | 8.42 | 0.0 | SDHC, SDHB |
succinate dehydrogenase complex (GO:0045281) | - | 8.42 | 0.0 | SDHC, SDHB |