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Gene: ENSG00000103197 |
Summary for TSC2 |
 Gene summary |
| Gene information | Ensembl ID | ENSG00000103197 | Gene symbol | TSC2 |
| Gene name | TSC complex subunit 2 | |
| HGNC | 12363 | |
| Entrez ID | 7249 | |
| Gene type | protein_coding | |
| Synonyms | TSC2|tuberin|LAM|PPP1R160 | |
| UniProtAcc | P49815 |
| Drugs associated with this gene(DrugBank). |
| Gene ID | Gene Symbol | Drug ID | Drug Name | Drug Type |
| Cancer therapeutic drugs associated with this gene(NCI). |
| Gene ID | Gene Name | Drug ID | Drug Name | Drug Type | Cancer |
Top |
Structure and expression level for TSC2 |
| AS events and RNA A-to-I editing events of the gene in TCGA based on Genvode V22 structure. ∗For more information on exon skipping events please check the ExonskipDB database. ∗For more information on exon skipping events please check the CAeditome database. |
 |
| Landscape of gene expressions across multiple cancer types. |
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| Differentially expressed gene analysis between tumor male and tumor female samples. |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
| Differentially expressed gene analysis between tumor male and normal male samples. |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
| Differentially expressed gene analysis between tumor female and normal female samples. |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
Top |
Sex-biased somatic mutation for TSC2 |
| ∗For more information on exon skipping events please check the ExonskipDB database. |
| Gene ID | Cancer Type | Hugo Symbol | Male | Female | pval | or | ci.up | ci.low | adjPval |
Top |
DNA methylation with beta values for TSC2 |
| Landscape of DNA methylation across multiple cancer types. |
 |
| Differentially expressed CpG sites between male tumor and female tumor patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
| Differentially expressed CpG sites between male tumor and male normal patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
| Differentially expressed CpG sites between female tumor and female normal patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
Top |
Exon skipping events with PSI in TCGA for TSC2 |
| ∗Please access ExonSkipDB for exon skipping annotation. |
| Landscape of exon skipping events across multiple cancer types. |
 |
| Differentially expressed exon skipping events between male tumor and female tumor patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
| Differentially expressed exon skipping events between male tumor and male normal patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
| HNSC | exon_skip_132443 | 3.83e-01 | 2.53e-01 | 5.03e+00 | 4.91e-07 | 1.01e-05 | 1.30e-01 |
| BLCA | exon_skip_132443 | 3.82e-01 | 2.16e-01 | 3.38e+00 | 7.37e-04 | 4.82e-03 | 1.66e-01 |
| STAD | exon_skip_132443 | 3.23e-01 | 2.14e-01 | 2.53e+00 | 1.13e-02 | 2.16e-02 | 1.09e-01 |
| ESCA | exon_skip_132443 | 4.22e-01 | 2.05e-01 | 3.44e+00 | 5.92e-04 | 8.54e-03 | 2.16e-01 |
| CHOL | exon_skip_132443 | 2.68e-01 | 1.18e-01 | 2.41e+00 | 1.58e-02 | 2.87e-02 | 1.51e-01 |
| Differentially expressed exon skipping events between female tumor and female normal patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
| BRCA | exon_skip_132443 | 2.73e-01 | 1.18e-01 | 1.11e+01 | 1.07e-28 | 5.24e-27 | 1.55e-01 |
| READ | exon_skip_132457 | 5.99e-02 | 1.63e-01 | -3.74e+00 | 1.88e-04 | 4.17e-03 | -1.03e-01 |
| KICH | exon_skip_132443 | 1.80e-01 | 7.94e-02 | 3.80e+00 | 1.47e-04 | 1.64e-03 | 1.01e-01 |
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RNA A-to-I editing events in TCGA for TSC2 |
| ∗Please access CAeditome for RNA editing annotation. |
| Differentially expressed RNA editing events between male tumor and female tumor patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
| Differentially expressed RNA editing events between male tumor and male normal patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
| Differentially expressed RNA editing events between female tumor and female normal patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
| Protein coding RNA editing(s). |
| Editing Position | Variant Type | Gene Symbol | Transcript ID | NTchange | AAchange |
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Sex-biased TF-Gene network for TSC2 |
| TFs related to TSC2. ∗The female-biased TF-gene edges were identified if Female_Edge_threshold>0.98 and Male_Edge_threshold<=0.98. ∗The male-biased TF-gene edges were identified if Male_Edge_threshold>0.98 and Female_Edge_threshold<=0.98. |
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| Cancer Type | TF | Target Gene | Male Edge Score | Male Edge Threshold | Female Edge Score | Female Edge Threshold | Type |
| BRCA | PLAGL2 | TSC2 | 2.71e+00 | 2.86e-03 | 4.31e+00 | 9.83e-01 | Female-biased |
| TSC2 related gene. ∗Only the gene encode TF might with this result. ∗For more information please check Sex-biased TF-Coding gene network. |
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Sex-biased RBP-ES network for TSC2 |
| RBPs related to ES in TSC2. ∗The female-biased RBP-ES edges were identified if Female_Edge_threshold>0.98 and Male_Edge_threshold<=0.98. ∗The male-biased RBP-ES edges were identified if Male_Edge_threshold>0.98 and Female_Edge_threshold<=0.98. |
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| Cancer Type | RBP | Target ES | Male Edge Score | Male Edge Threshold | Female Edge Score | Female Edge Threshold | Type |
| UVM | RALY | exon_skip_132424 | 7.69e+00 | 9.86e-01 | 7.33e+00 | 4.08e-03 | Male-biased |
| UVM | TIA1 | exon_skip_132424 | 7.73e+00 | 9.86e-01 | 7.37e+00 | 4.21e-03 | Male-biased |
| LIHC | SAMD4A | exon_skip_132457 | 7.77e+00 | 9.90e-01 | 6.95e+00 | 6.11e-04 | Male-biased |
| LUSC | SAMD4A | exon_skip_132435 | 8.48e+00 | 2.67e-03 | 8.97e+00 | 9.93e-01 | Female-biased |
| DLBC | SAMD4A | exon_skip_132457 | 6.99e+00 | 9.82e-01 | 6.57e+00 | 4.02e-03 | Male-biased |
| KIRP | RALY | exon_skip_132424 | 7.50e+00 | 9.84e-01 | 7.11e+00 | 5.31e-03 | Male-biased |
| KIRP | SAMD4A | exon_skip_132435 | 8.27e+00 | 8.71e-03 | 8.61e+00 | 9.85e-01 | Female-biased |
| KIRP | TIA1 | exon_skip_132424 | 7.54e+00 | 9.84e-01 | 7.15e+00 | 5.53e-03 | Male-biased |
| BRCA | SAMD4A | exon_skip_132457 | 6.32e+00 | 2.97e-04 | 8.31e+00 | 9.92e-01 | Female-biased |
| PCPG | SAMD4A | exon_skip_132435 | 8.38e+00 | 9.89e-01 | 7.97e+00 | 3.65e-03 | Male-biased |
| KIRC | SAMD4A | exon_skip_132435 | 8.52e+00 | 9.84e-01 | 8.21e+00 | 9.88e-03 | Male-biased |
| KIRC | SAMD4A | exon_skip_132457 | 6.37e+00 | 1.80e-03 | 6.85e+00 | 9.83e-01 | Female-biased |
| KICH | SAMD4A | exon_skip_132435 | 8.54e+00 | 9.87e-01 | 8.19e+00 | 7.11e-03 | Male-biased |
| KICH | SAMD4A | exon_skip_132457 | 7.25e+00 | 9.88e-01 | 6.55e+00 | 3.70e-04 | Male-biased |
| SKCM | G3BP2 | exon_skip_132438 | 6.90e+00 | 6.72e-03 | 7.29e+00 | 9.82e-01 | Female-biased |
| HNSC | SAMD4A | exon_skip_132435 | 8.63e+00 | 9.93e-01 | 8.07e+00 | 1.52e-03 | Male-biased |
| TSC2 related ES. ∗Only the gene encode RBP might with this result. ∗For more information please check Sex-biased RBP-ES network in cancer. |
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Sex-biased CeRNA regulation of gene |
| Sex-biased CeRNA regulation of gene. |
| Gene ID | ceRNA(lncRNA-miRNA-mRNA) | Group | Cancer Type |
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Sex-biased eQTL regulation of gene |
| Sex-biased eQTL regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| eQTL | Description |
| Male-specific eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Effect Score | FDR | Cancer Type | Biased Type |
| rs77974386 | chr16:7340129:G:T | - | 0.112613637400369 | 0.0245582352400172 | HNSC | Female-baised eQTL |
| rs75863108 | chr16:7336608:A:T | - | 0.105262828122291 | 0.0413297472200627 | HNSC | Female-baised eQTL |
| rs75107020 | chr16:7336723:T:C | - | 0.105262828122291 | 0.0413297472200627 | HNSC | Female-baised eQTL |
| rs2267787 | chr16:9789680:C:T | - | 0.0743140421681784 | 0.0284881703682616 | KIRC | Female-baised eQTL |
| rs7194140 | chr16:9788687:A:G | - | 0.0703101055956268 | 0.0472369688068056 | KIRC | Female-baised eQTL |
| Female-specific eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Effect Score | FDR | Cancer Type | Biased Type |
| rs4786170 | chr16:7465372:G:A | - | -0.105850027986467 | 0.0275785063980217 | THCA | Male-baised eQTL |
| rs8055842 | chr16:7466828:T:C | - | -0.105850027986467 | 0.0275785063980217 | THCA | Male-baised eQTL |
| rs4787023 | chr16:7471605:C:G | - | -0.105850027986467 | 0.0275785063980217 | THCA | Male-baised eQTL |
| rs9302852 | chr16:7465155:T:C | - | -0.105879235293 | 0.0275901669009424 | THCA | Male-baised eQTL |
| rs12930014 | chr16:10494687:T:G | - | 0.125750120493493 | 0.0271468354890413 | LGG | Male-baised eQTL |
| rs11860461 | chr16:324646:T:C | - | -0.0817497194604507 | 0.0272203753552654 | KIRC | Male-baised eQTL |
| rs11860105 | chr16:326583:C:T | - | -0.0817497194604507 | 0.0272203753552654 | KIRC | Male-baised eQTL |
| rs74000531 | chr16:340944:C:T | - | -0.0827510922571639 | 0.0376086750166303 | KIRC | Male-baised eQTL |
| rs35612680 | chr16:342784:C:T | - | -0.0818709147681125 | 0.0420158997457829 | KIRC | Male-baised eQTL |
| rs74367769 | chr16:7614082:A:G | - | 0.0969153837325906 | 0.0346402758619255 | COAD | Male-baised eQTL |
| rs17144361 | chr16:7619909:C:G | - | 0.10290048306874 | 0.035676329946323 | COAD | Male-baised eQTL |
| rs71388588 | chr16:4541631:C:T | - | 0.0992545379506394 | 0.0387467846495936 | COAD | Male-baised eQTL |
| rs12934968 | chr16:11320209:C:A | - | -0.071312148399652 | 0.0445891314771907 | COAD | Male-baised eQTL |
| rs12595992 | chr16:5921358:A:G | - | -0.0759404149097062 | 0.0465597556795731 | COAD | Male-baised eQTL |
| rs73490606 | chr16:7614199:A:C | - | 0.0990037642132373 | 0.0471302979360409 | COAD | Male-baised eQTL |
| Opposite sex-biased eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Male Effect | Male FDR | Female Effect | Female FDR | Sex-biased Gene in Cancer | Cancer Type |
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Sex-biased eQTM regulation of gene |
| Sex-biased eQTM regulation of gene (The figures only show the pairs with FDR<1e-5. For more information please check the below table). |
| eQTM | Description |
 | Gene ID: ENSG00000103197 |
| CpG Site: cg26688936 | |
| Position to Gene: gene,exon,CDS,UTR | |
| Male Effect: - | |
| Female Effect: -0.408181746687879 |
| Male-specific eQTM regulation. |
| CpG Site | CpG Postion | Position to Gene | Effect Score | FDR | Cor.r | Cor.Pvalue | Cancer Type |
| Female-specific eQTM regulation. |
| CpG Site | CpG Postion | Position to Gene | Effect Score | FDR | Cor.r | Cor.Pvalue | Cancer Type |
| cg26688936 | chr16:2081717 | gene,exon,CDS,UTR | -0.408181746687879 | 1.90890505427042e-07 | -0.5541530567291358 | 4.077432645905495e-10 | BLCA |
| Opposite sex-biased eQTM regulation. |
| CpG Site | CpG Postion | CpG Island | Position to Gene | Male Effect | Male FDR | Female Effect | Female FDR | Male Cor | Male P-value | Female Cor | Female P-value | Sex-biased Coding Gene | Cancer Type |
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Sex-biased sQTL regulation of gene |
| Sex-biased sQTL regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| sQTL | Description |
| Male-specific sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Effect Score | FDR | Cancer Type | Biased Type |
| exon_skip_132443 | chr16:2077597:2077726 | In-frame | rs4786635 | chr16:1812723:G:A | Distant upstream | 0.0242341363334565 | 0.00591696744591137 | THCA | Female-baised sQTL |
| exon_skip_132443 | chr16:2077597:2077726 | In-frame | rs2745190 | chr16:1801160:A:T | Distant upstream | 0.0226099144190544 | 0.0330050163420983 | THCA | Female-baised sQTL |
| exon_skip_132443 | chr16:2077597:2077726 | In-frame | rs2745188 | chr16:1800176:G:A | Distant upstream | 0.0220842484738287 | 0.0390873322280901 | THCA | Female-baised sQTL |
| exon_skip_132443 | chr16:2077597:2077726 | In-frame | rs2575343 | chr16:1800194:G:A | Distant upstream | 0.0220842484738287 | 0.0390873322280901 | THCA | Female-baised sQTL |
| exon_skip_132443 | chr16:2077597:2077726 | In-frame | rs2575342 | chr16:1801067:G:C | Distant upstream | 0.0220842484738287 | 0.0390873322280901 | THCA | Female-baised sQTL |
| exon_skip_132443 | chr16:2077597:2077726 | In-frame | rs2357297 | chr16:1799119:C:T | Distant upstream | 0.0221358911545661 | 0.0396980402530078 | THCA | Female-baised sQTL |
| exon_skip_132443 | chr16:2077597:2077726 | In-frame | rs72764891 | chr16:1963587:T:C | Distant upstream | -0.102182752459141 | 0.0180029068463611 | COAD | Female-baised sQTL |
| exon_skip_132443 | chr16:2077597:2077726 | In-frame | rs72764893 | chr16:1963755:T:C | Distant upstream | -0.102182752459141 | 0.0180029068463611 | COAD | Female-baised sQTL |
| exon_skip_132443 | chr16:2077597:2077726 | In-frame | rs56125212 | chr16:1960576:G:A | Distant upstream | -0.0799654516283213 | 0.0448276465228225 | COAD | Female-baised sQTL |
| exon_skip_132443 | chr16:2077597:2077726 | In-frame | rs72764887 | chr16:1960891:T:C | Distant upstream | -0.0783112878430764 | 0.0497126030502376 | COAD | Female-baised sQTL |
| exon_skip_132443 | chr16:2077597:2077726 | In-frame | rs740580 | chr16:1961063:T:C | Distant upstream | -0.0783112878430764 | 0.0497126030502376 | COAD | Female-baised sQTL |
| exon_skip_132443 | chr16:2077597:2077726 | In-frame | rs731198 | chr16:1961081:T:C | Distant upstream | -0.0783112878430764 | 0.0497126030502376 | COAD | Female-baised sQTL |
| exon_skip_132457 | chr16:2082435:2082504 | In-frame | rs2009868 | chr16:1400993:C:T | Distant upstream | -0.0702248960273122 | 0.0305611292813065 | SARC | Female-baised sQTL |
| exon_skip_132457 | chr16:2082435:2082504 | In-frame | rs4984817 | chr16:1348817:G:C | Distant upstream | -0.0704164596928982 | 0.0363684903375847 | SARC | Female-baised sQTL |
| exon_skip_132457 | chr16:2082435:2082504 | In-frame | rs6600144 | chr16:1429985:A:G | Distant upstream | -0.0729576477675407 | 0.0450666801944647 | SARC | Female-baised sQTL |
| exon_skip_132457 | chr16:2082435:2082504 | In-frame | rs11649282 | chr16:1427835:A:G | Distant upstream | -0.066056934421365 | 0.0465425582255184 | SARC | Female-baised sQTL |
| exon_skip_132457 | chr16:2082435:2082504 | In-frame | rs4984830 | chr16:1403042:G:A | Distant upstream | -0.0670046696428571 | 0.0486646768844922 | SARC | Female-baised sQTL |
| exon_skip_132457 | chr16:2082435:2082504 | In-frame | rs909922 | chr16:1404081:T:C | Distant upstream | -0.0670046696428571 | 0.0486646768844922 | SARC | Female-baised sQTL |
| exon_skip_132457 | chr16:2082435:2082504 | In-frame | rs909923 | chr16:1404170:T:C | Distant upstream | -0.0670046696428571 | 0.0486646768844922 | SARC | Female-baised sQTL |
| exon_skip_132457 | chr16:2082435:2082504 | In-frame | rs8063449 | chr16:1405485:G:A | Distant upstream | -0.0670046696428571 | 0.0486646768844922 | SARC | Female-baised sQTL |
| exon_skip_132457 | chr16:2082435:2082504 | In-frame | rs2103664 | chr16:1396781:A:G | Distant upstream | -0.065644486620128 | 0.0491792471443673 | SARC | Female-baised sQTL |
| Female-specific sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Effect Score | FDR | Cancer Type | Biased Type |
| exon_skip_132443 | chr16:2077597:2077726 | In-frame | rs3751664 | chr16:1204369:C:T | Distant upstream | 0.0767873812443372 | 0.0276647317901182 | COAD | Male-baised sQTL |
| Opposite sex-biased sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Male Effect | Male FDR | Female Effect | Female FDR | Cancer Type |
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Sex-biased sQTM regulation of gene |
| Sex-biased sQTM regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| sQTM | Description |
 | EX ID: exon_skip_132443 |
| CpG Site: cg27503499 | |
| Position to EX: Distant upstream | |
| Male Effect: -0.287899250077754 | |
| Female Effect: - | |
 | EX ID: exon_skip_132443 |
| CpG Site: cg09476997 | |
| Position to EX: Distant upstream | |
| Male Effect: -0.165893858178371 | |
| Female Effect: - | |
 | EX ID: exon_skip_132443 |
| CpG Site: cg05194102 | |
| Position to EX: Distant upstream | |
| Male Effect: -0.154670051959459 | |
| Female Effect: - | |
 | EX ID: exon_skip_132443 |
| CpG Site: cg01383203 | |
| Position to EX: Distant upstream | |
| Male Effect: - | |
| Female Effect: -0.174713253225806 |
| Male-specific sQTM regulation. |
| EX ID | Skipped Exon | CPG Site | CPG Position | Position to EX Events | Effect Score | FDR | Cor.r | Cor.Pvalue | ORF_anno | Cancer Type |
| exon_skip_132443 | chr16:2077597:2077726 | cg27503499 | chr16:1524268 | Distant upstream | -0.287899250077754 | 5.97836210919231e-15 | -0.35983777882502016 | 2.9171376078879014e-10 | In-frame | SKCM |
| exon_skip_132443 | chr16:2077597:2077726 | cg09476997 | chr16:2037931 | Distant upstream | -0.165893858178371 | 8.16552917036414e-09 | -0.41071246275446155 | 3.454247101391442e-13 | In-frame | SKCM |
| exon_skip_132443 | chr16:2077597:2077726 | cg05194102 | chr16:2038959 | Distant upstream | -0.154670051959459 | 2.28976301031925e-07 | -0.33395897039686584 | 5.861622501952308e-09 | In-frame | SKCM |
| Female-specific sQTM regulation. |
| EX ID | Skipped Exon | CPG Site | CPG Position | Position to EX Events | Effect Score | FDR | Cor.r | Cor.Pvalue | ORF_anno | Cancer Type |
| exon_skip_132443 | chr16:2077597:2077726 | cg01383203 | chr16:1170524 | Distant upstream | -0.174713253225806 | 8.95593752740827e-06 | -0.3585987969008159 | 3.0073419875635147e-05 | In-frame | SARC |
| Opposite sex-biased sQTM regulation. |
| EX ID | EX Info | Skipped Exon | CPG Site | CPG Position | CPG Island | Position to EX Events | Male Effect | Male FDR | Female Effect | Female FDR | Male Correlation | Male P-value | Female Correlation | Female P-value | ORF_anno | Cancer Type |
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Related disease information of TSC2 |
| Diseases associated with this gene (DisGeNET). |
| Gene ID | Gene Symbol | Disease ID | Disease Name | Number of PMID | Source |
| ENSG00000103197 | TSC2 | C0004352 | Autistic Disorder | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0006111 | Brain Diseases | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0014544 | Epilepsy | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0021368 | Inflammation | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0022333 | Jacksonian Seizure | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0022665 | Kidney Neoplasm | 3 | CTD_human |
| ENSG00000103197 | TSC2 | C0023267 | Fibroid Tumor | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0026640 | Mouth Neoplasms | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0026998 | Acute Myeloid Leukemia, M1 | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0027746 | Nerve Degeneration | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0032927 | Precancerous Conditions | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0036572 | Seizures | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0037769 | West Syndrome | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0041341 | Tuberous Sclerosis | 4 | CTD_human |
| ENSG00000103197 | TSC2 | C0042133 | Uterine Fibroids | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0085584 | Encephalopathies | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0086237 | Epilepsy, Cryptogenic | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0149958 | Complex partial seizures | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0153381 | Malignant neoplasm of mouth | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0234533 | Generalized seizures | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0234535 | Clonic Seizures | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0236018 | Aura | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0265319 | Fibrous skin tumor of tuberous sclerosis | 4 | CTD_human |
| ENSG00000103197 | TSC2 | C0270824 | Visual seizure | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0270844 | Tonic Seizures | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0270846 | Epileptic drop attack | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0282313 | Condition, Preneoplastic | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0346647 | Malignant neoplasm of pancreas | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0393698 | Cryptogenic Infantile Spasms | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0393699 | Symptomatic Infantile Spasms | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0422850 | Seizures, Somatosensory | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0422852 | Seizures, Auditory | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0422853 | Olfactory seizure | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0422854 | Gustatory seizure | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0422855 | Vertiginous seizure | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0494475 | Tonic - clonic seizures | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0546878 | Nodding spasm | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0553558 | Jackknife Seizures | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0684276 | Hypsarrhythmia | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0740457 | Malignant neoplasm of kidney | 3 | CTD_human |
| ENSG00000103197 | TSC2 | C0751056 | Non-epileptic convulsion | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0751110 | Single Seizure | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0751111 | Awakening Epilepsy | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C0751123 | Atonic Absence Seizures | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0751494 | Convulsive Seizures | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0751495 | Seizures, Focal | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0751496 | Seizures, Sensory | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C0751674 | Lymphangioleiomyomatosis | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C1527306 | spasmus nutans | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C1527366 | Salaam Seizures | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C1846385 | FOCAL CORTICAL DYSPLASIA OF TAYLOR | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C1846386 | Focal Cortical Dysplasia of Taylor, Type IIa | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C1846389 | Focal Cortical Dysplasia of Taylor, Type IIb | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C1860707 | TUBEROUS SCLEROSIS 2 (disorder) | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C1879321 | Acute Myeloid Leukemia (AML-M2) | 1 | CTD_human |
| ENSG00000103197 | TSC2 | C3495874 | Nonepileptic Seizures | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C4048158 | Convulsions | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C4316903 | Absence Seizures | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C4317109 | Epileptic Seizures | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C4317123 | Myoclonic Seizures | 2 | CTD_human |
| ENSG00000103197 | TSC2 | C4505436 | Generalized Absence Seizures | 2 | CTD_human |
