Wikidata:Database reports/Constraint violations/P3359

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Constraint violations report for negative prognostic predictor for (Discussion, uses, items, changes, related properties): the presence of the genetic variant helps to prognose poor outcome for the disease
Data time stamp: 27 March 2024, 11:03 (UTC) — Items processed: 200
The report is generated based on the settings on Property:P3359#P2302.
Updates overwrite this page. Some may already be fixed since the last update: check RecentChangesLinked.
When incremental dumps and the bot work as planned, items fixed before 07:00 UTC disappear in the next update. The report is not updated if only the item count changes.
The report can include false positives. There is no need to "fix" them.

"Scope" violations

Violations count: 0

"Type sequence variant (Q15304597)" violations

Violations count: 42

• ERBB2 Amplification (Q27908387): Transcript Amplification (Q27907091)
• TP53 DNA Binding Domain Mutation (Q28371205): DNA binding site (Q5205743)
• FLT3 TKD MUTATION (Q28381821): Nonsynonymous Variant (Q27905684)
• NOTCH1 S2275FS (Q28381849): Plus 1 Frameshift Variant (Q28381736)
• EGFR Copy Number Variation (Q28382120): Copy Number Change (Q28381984)
• IKZF1 DELETION (Q28382133): Transcript Ablation (Q28381986)
• TERT Promoter Mutation (Q28382152): Regulatory Region Variant (Q28381988)
• TERT C228T (Q28382166): Regulatory Region Variant (Q28381988)
• MDM2 SNP309 (Q28423261): Coding Transcript Intron Variant (Q28419134)
• CDKN2A RS3814960 (Q28423327): 5 Prime UTR Exon Variant (Q28419138)
• CCND1 Amplification (Q28444926): Transcript Amplification (Q27907091)
• CCNE1 Amplification (Q28444962): Transcript Amplification (Q27907091)
• EGFR Amplification (Q28444964): Transcript Amplification (Q27907091)
• NCOA3 AMPLIFICATION (Q28444969): Transcript Amplification (Q27907091)
• PIK3CA Amplification (Q28444974): Transcript Amplification (Q27907091)
• PTEN Deletion (Q28444975): Transcript Ablation (Q28381986)
• TERT Amplification (Q28444980): Transcript Amplification (Q27907091)
• FGFR1 Amplification (Q28444992): Transcript Amplification (Q27907091)
• MYCN Amplification (Q28445010): Transcript Amplification (Q27907091)
• NOTCH1 AMPLIFICATION (Q28445033): Transcript Amplification (Q27907091)
• KRAS Amplification (Q28445165): Transcript Amplification (Q27907091)
• LRP1B DELETION (Q28445191): Transcript Ablation (Q28381986)
• CDH1 MUTATION (Q28445202): Transcription Variant (Q28419121)
• GNAS c.393T>C (Q29938321): Synonymous Variant (Q28419125)
• BCL2 Mutation (Q50092885):
• BTK MUTATION (Q56240979):
• PLCG2 MUTATION (Q56240980):
• PIK3CA EXON 9 MUTATION (Q56241012):
• HRAS Q61 (Q66084570):
• NT5C2 Mutation (Q83482789):
• H3-3A MUTATION (Q86216993):
• ATRX DELETION (Q86217001):
• CDKN2A Deletion (Q86217006):
• IKZF1 IKZF1 deletion and mutation (Q86217213):
• NT5C2 R238W (Q86217552):
• PRPS1 PRPS1 MUTATION (Q86217682):
• PRPS1 A190T (Q86217724):
• PIK3CA Exon 10 and Exon 21 Mutation (Q96007037):
• AKT1 S473 Phosphorylation (Q105669122):
• PIK3CA Exon 10 or Exon 21 Mutation (Q106942755):
• CD44 CD44v6 (Q107522022):
• PIK3CA H1047L or H1047R (Q111692267):

Types statistics

Accepted	Type	Usage
Yes	sequence variant (Q15304597)	55
Yes	missense mutation (Q2656896)	36
Yes	Loss Of Function Variant (Q27907094)	17
Yes	Protein Altering Variant (Q27907087)	17
No	Transcript Amplification (Q27907091)	11
Yes	transcript fusion (Q28419128)	10
Yes	exon variant (Q27908063)	9
Yes	transcript variant (Q28371782)	6
Yes	Gain Of Function Variant (Q28371786)	5
Yes	Frameshift Truncation (Q28371705)	3
Yes	gene variant (Q28381983)	3
No	Transcript Ablation (Q28381986)	3
Yes	single-nucleotide polymorphism (Q501128)	2
Yes	Inframe Insertion (Q27908066)	2
Yes	Frameshift Variant (Q28419131)	2
No	Regulatory Region Variant (Q28381988)	2
Yes	deleterious mutation (Q120878399)	1
No	5 Prime UTR Exon Variant (Q28419138)	1
Yes	Polymorphic Sequence Variant (Q28419136)	1
No	Coding Transcript Intron Variant (Q28419134)	1
Yes	Intron Variant (Q28419129)	1
No	DNA binding site (Q5205743)	1
No	Synonymous Variant (Q28419125)	1
No	Transcription Variant (Q28419121)	1
No	Copy Number Change (Q28381984)	1
No	Plus 1 Frameshift Variant (Q28381736)	1
Yes	Stop Gained (Q28371788)	1
Yes	Coding Sequence Variant (Q28371787)	1
No	Nonsynonymous Variant (Q27905684)	1
Yes	loss of heterozygosity (Q2617554)	1

"Entity types" violations

Violations count: 0

"Value type sequence variant (Q15304597)" violations

Violations count: 306

• BRAF V600E (Q21851559): papillary thyroid cancer (Q2292945): class of disease (Q112193867), thyroid carcinoma (Q18556131), papillary carcinoma (Q18555294), differentiated thyroid carcinoma (Q56013722)
• BRAF V600E (Q21851559): melanoma (Q180614): rare disease (Q929833), class of disease (Q112193867), skin cancer (Q192102), cell type cancer (Q18553402), disease (Q12136)
• BRAF V600E (Q21851559): papillary thyroid cancer (Q2292945): class of disease (Q112193867), thyroid carcinoma (Q18556131), papillary carcinoma (Q18555294), differentiated thyroid carcinoma (Q56013722)
• BRAF V600E (Q21851559): papillary thyroid cancer (Q2292945): class of disease (Q112193867), thyroid carcinoma (Q18556131), papillary carcinoma (Q18555294), differentiated thyroid carcinoma (Q56013722)
• BRAF V600E (Q21851559): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• BRAF V600E (Q21851559): papillary thyroid cancer (Q2292945): class of disease (Q112193867), thyroid carcinoma (Q18556131), papillary carcinoma (Q18555294), differentiated thyroid carcinoma (Q56013722)
• BRAF V600E (Q21851559): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• BRAF V600E (Q21851559): multiple myeloma (Q467635): class of disease (Q112193867), leukocyte disease (Q18558143), myeloid neoplasm (Q18553734), immunoproliferative disorder (Q8578535), disease (Q12136)
• BRAF V600E (Q21851559): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• BRAF V600E (Q21851559): pediatric low-grade glioma (Q102294353): class of disease (Q112193867), low grade glioma (Q55789758)
• BRAF V600E (Q21851559): melanoma (Q180614): rare disease (Q929833), class of disease (Q112193867), skin cancer (Q192102), cell type cancer (Q18553402), disease (Q12136)
• BRAF V600E (Q21851559): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• EGFR T790M (Q25100112): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• DNMT3A R882 (Q27908043): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• DNMT3A R882 (Q27908043): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• DNMT3A R882 (Q27908043): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• DNMT3A R882 (Q27908043): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• FLT3 ITD (Q27908074): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• FLT3 ITD (Q27908074): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• FLT3 ITD (Q27908074): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• FLT3 ITD (Q27908074): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• FLT3 ITD (Q27908074): acute promyelocytic leukemia (Q612108): class of disease (Q112193867), symptom or sign (Q112965645), acute myeloid leukemia (Q264118), bilineal acute myeloid leukemia (Q55783213), disease (Q12136)
• CDKN2A p16 Expression (Q27908369): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• KRAS Exon 2 Mutation (Q27908371): pancreatic carcinoma (Q18556536): class of disease (Q112193867), pancreatic cancer (Q212961), carcinoma (Q33525), gastrointestinal carcinoma (Q18553565)
• KRAS Exon 2 Mutation (Q27908371): rectum cancer (Q2739660): class of disease (Q112193867), colorectal cancer (Q188874), rectal neoplasm (Q18554955)
• KRAS Exon 2 Mutation (Q27908371): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• SSX1 SS18::SSX1 (Q27908379): synovial sarcoma (Q2619315): class of disease (Q112193867), synovium cancer (Q18555170), disease (Q12136)
• SSX1 SS18::SSX1 (Q27908379): synovial sarcoma (Q2619315): class of disease (Q112193867), synovium cancer (Q18555170), disease (Q12136)
• ERBB2 Amplification (Q27908387): uterine corpus serous adenocarcinoma (Q19000614): class of disease (Q112193867), uterine corpus cancer (Q18558133), serous cystadenocarcinoma (Q7455060)
• BAP1 Mutation (Q27908399): renal clear cell carcinoma (Q18556340): class of disease (Q112193867), renal cell carcinoma (Q1164529), clear cell carcinoma (Q18556242)
• KRAS G12 (Q27917107): multiple myeloma (Q467635): class of disease (Q112193867), leukocyte disease (Q18558143), myeloid neoplasm (Q18553734), immunoproliferative disorder (Q8578535), disease (Q12136)
• KRAS G12 (Q27917107): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• KRAS G12 (Q27917107): multiple myeloma (Q467635): class of disease (Q112193867), leukocyte disease (Q18558143), myeloid neoplasm (Q18553734), immunoproliferative disorder (Q8578535), disease (Q12136)
• ERCC5 RS751402 (Q27919347): parietal lobe ependymoma (Q18553548): class of disease (Q112193867), parietal lobe malignant neoplasm (Q18554751), ependymoma (Q1346753)
• RET M918T (Q27919563): Tuberculosis (possibly) (Q3493538): class of disease (Q112193867), follicular thyroid cancer (Q5464665), thyroid gland disease (Q6673122), medullary carcinoma (Q6807316), thyroid carcinoma (Q18556131), disease (Q12136)
• CDKN2A Promoter Hypermethylation (Q27925513): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• CCND1 Overexpression (Q28370964): mantle cell lymphoma (Q268713): class of disease (Q112193867), B-cell lymphoma (Q4833719), aggressive B-cell non-Hodgkin lymphoma (Q55787212), disease (Q12136)
• CCND1 Overexpression (Q28370964): head and neck squamous cell carcinoma (Q18348812): head and neck disease (Q55789477), rare disease (Q929833), class of disease (Q112193867), squamous cell carcinoma (Q681817), head and neck cancer (Q1783924), head and neck carcinoma (Q18554836)
• CCND1 Overexpression (Q28370964): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• CCND1 Overexpression (Q28370964): B-cell childhood acute lymphoblastic leukemia (Q26492840): class of disease (Q112193867), childhood acute lymphocytic leukemia (Q26492838), B-cell acute lymphoblastic leukemia (Q102293395), lymphoma (Q208414)
• IDH1 R132 (Q28370999): myelodysplastic syndrome (Q954625): class of disease (Q112193867), myeloproliferative disorders (Q1898104), neoplastic syndrome (Q55789476), disease (Q12136)
• IDH2 R172K (Q28371003): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• KIT Exon 14 Mutation (Q28371005): gastrointestinal stromal tumor (Q1495661): class of disease (Q112193867), Stromal tumor (Q16869243), rare genetic intestinal disease (Q55785596), inherited digestive tract tumor (Q55786847), mesenchymal tumor of small intestine (Q55788134), gastrointestinal system cancer (Q5526839)
• KRAS G12/G13 (Q28371010): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• KRAS G12/G13 (Q28371010): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• KRAS G12/G13 (Q28371010): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• KRAS G12C (Q28371011): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• KRAS G12D (Q28371012): cancer of exocrine pancreas (Q18554907): class of disease (Q112193867), pancreatic cancer (Q212961), pancreatic exocrine neoplasm (Q56014474)
• KRAS G13 (Q28371013): multiple myeloma (Q467635): class of disease (Q112193867), leukocyte disease (Q18558143), myeloid neoplasm (Q18553734), immunoproliferative disorder (Q8578535), disease (Q12136)
• NPM1 EXON 12 MUTATION (Q28371018): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• NPM1 EXON 12 MUTATION (Q28371018): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• NPM1 EXON 12 MUTATION (Q28371018): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• NRAS Q61 (Q28371022): follicular thyroid cancer (Q5464665): class of disease (Q112193867), thyroid carcinoma (Q18556131), adenocarcinoma (Q356033)
• PIK3CA E542K (Q28371029): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• PIK3CA E545K (Q28371031): rectum cancer (Q2739660): class of disease (Q112193867), colorectal cancer (Q188874), rectal neoplasm (Q18554955)
• PIK3CA Exon 21 Mutation (Q28371032): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• PIK3CA Exon 10 Mutation (Q28371033): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• PIK3CA Exon 10 Mutation (Q28371033): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• PIK3CA H1047R (Q28371034): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• TP53 R175H (Q28371038): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• TP53 R248Q (Q28371039): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• TP53 R248W (Q28371040): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• TP53 R249 (Q28371042): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• TP53 R273C (Q28371043): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• TP53 R273H (Q28371044): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• U2AF1 Q157P/R (Q28371046): myelodysplastic syndrome (Q954625): class of disease (Q112193867), myeloproliferative disorders (Q1898104), neoplastic syndrome (Q55789476), disease (Q12136)
• U2AF1 S34Y/F (Q28371048): myelodysplastic syndrome (Q954625): class of disease (Q112193867), myeloproliferative disorders (Q1898104), neoplastic syndrome (Q55789476), disease (Q12136)
• WT1 EXON 7 MUTATION (Q28371049): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• WT1 EXON 7 MUTATION (Q28371049): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• WT1 EXON 9 MUTATION (Q28371051): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• NOTCH1 D1642H (Q28371054): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• NOTCH1 R2327W (Q28371055): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• NOTCH1 V2444FS (Q28371056): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• ATM Underexpression (Q28371091): pancreatic cancer (Q212961): class of disease (Q112193867), endocrine gland cancer (Q18554878), pancreas disease (Q7130407), pancreatic neoplasm (Q7130412), gastrointestinal system cancer (Q5526839), disease (Q12136)
• ATM Underexpression (Q28371091): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• SMARCA4 INACTIVATING MUTATION (Q28371188): adenocarcinoma of the lung (Q843799): class of disease (Q112193867), lung cancer (Q47912), adenocarcinoma (Q356033), adenocarcinoma (Q356033)
• TP53 Deleterious Mutation (Q28371191): head and neck squamous cell carcinoma (Q18348812): head and neck disease (Q55789477), rare disease (Q929833), class of disease (Q112193867), squamous cell carcinoma (Q681817), head and neck cancer (Q1783924), head and neck carcinoma (Q18554836)
• TP53 Deleterious Mutation (Q28371191): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• NT5C2 K359Q (Q28371202): acute lymphocytic leukemia (Q180664): class of disease (Q112193867), acute leukemia (Q976388), lymphoblastic leukemia (Q18553852), disease (Q12136)
• TP53 DNA Binding Domain Mutation (Q28371205): oral squamous cell carcinoma (Q18553522): head and neck disease (Q55789477), class of disease (Q112193867), mouth cancer (Q1143025), head and neck squamous cell carcinoma (Q18348812), lip and oral cavity carcinoma (Q55790434), squamous cell carcinoma (Q681817)
• STK11 EXON 1-2 MUTATION (Q28371254): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• SETBP1 Exon 4 Mutation (Q28371306): atypical chronic myeloid leukemia (Q11663712): class of disease (Q112193867), myelodysplastic/myeloproliferative neoplasm (Q18556570), chronic myeloid leukemia (Q729735)
• SETBP1 G870S (Q28371307): chronic myeloid leukemia (Q729735): class of disease (Q112193867), myeloid leukemia (Q11688946), chronic leukemia (Q5113979), disease (Q12136)
• ERBB2 SERUM LEVELS (Q28371380): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• KRAS G12V (Q28371388): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• FGF13 CYTOPLASMIC EXPRESSION (Q28371409): prostate cancer (Q181257): class of disease (Q112193867), male reproductive organ cancer (Q18556093), prostate neoplasm (Q56014511), prostate disease (Q18556445), disease (Q12136)
• FCGR2B I232T (Q28371421): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• ALK CLTC::ALK (Q28371478): diffuse large B-cell lymphoma (Q2626074): class of disease (Q112193867), B-cell lymphoma (Q4833719), aggressive B-cell non-Hodgkin lymphoma (Q55787212)
• KRAS G12R (Q28371486): pancreatic cancer (Q212961): class of disease (Q112193867), endocrine gland cancer (Q18554878), pancreas disease (Q7130407), pancreatic neoplasm (Q7130412), gastrointestinal system cancer (Q5526839), disease (Q12136)
• TP53 P72R (Q28371487): lung carcinoma (Q18556110): class of disease (Q112193867), lung cancer (Q47912), carcinoma (Q33525)
• TP53 P72R (Q28371487): cervix uterine cancer (Q160105): class of disease (Q112193867), uterine cancer (Q1209744), cervix disease (Q18555046), uterine cervix neoplasm (Q56014502), disease (Q12136)
• MAP2K7 E116K (Q28371526): lung cancer (Q47912): rare disease (Q929833), class of disease (Q112193867), respiratory system cancer (Q7315926), lung disease (Q3392853), lung neoplasm (Q15124212), disease (Q12136)
• BRAF D594G (Q28371565): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• BRAF D594G (Q28371565): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• NTRK3 ETV6::NTRK3 (Q28371674): papillary thyroid cancer (Q2292945): class of disease (Q112193867), thyroid carcinoma (Q18556131), papillary carcinoma (Q18555294), differentiated thyroid carcinoma (Q56013722)
• KIT Exon 11 Mutation (Q28381455): gastrointestinal stromal tumor (Q1495661): class of disease (Q112193867), Stromal tumor (Q16869243), rare genetic intestinal disease (Q55785596), inherited digestive tract tumor (Q55786847), mesenchymal tumor of small intestine (Q55788134), gastrointestinal system cancer (Q5526839)
• NOTCH1 P2514FS (Q28381497): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• NOTCH1 P2514FS (Q28381497): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• ATR I774FS (Q28381515): endometrial cancer (Q944777): class of disease (Q112193867), uterine cancer (Q1209744), uterine corpus cancer (Q18558133), endometriosis (Q205764), endometrial neoplasm (Q58833978), disease (Q12136)
• FLT3 TKD MUTATION (Q28381821): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• PTEN R233* (Q28381837): glioblastoma (Q282142): class of disease (Q112193867), astrocytoma (Q177755), disease (Q12136)
• NOTCH1 S2275FS (Q28381849): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• EGFR Copy Number Variation (Q28382120): head and neck squamous cell carcinoma (Q18348812): head and neck disease (Q55789477), rare disease (Q929833), class of disease (Q112193867), squamous cell carcinoma (Q681817), head and neck cancer (Q1783924), head and neck carcinoma (Q18554836)
• IKZF1 DELETION (Q28382133): acute lymphocytic leukemia (Q180664): class of disease (Q112193867), acute leukemia (Q976388), lymphoblastic leukemia (Q18553852), disease (Q12136)
• IKZF1 DELETION (Q28382133): B-cell childhood acute lymphoblastic leukemia (Q26492840): class of disease (Q112193867), childhood acute lymphocytic leukemia (Q26492838), B-cell acute lymphoblastic leukemia (Q102293395), lymphoma (Q208414)
• IKZF1 DELETION (Q28382133): B-cell childhood acute lymphoblastic leukemia (Q26492840): class of disease (Q112193867), childhood acute lymphocytic leukemia (Q26492838), B-cell acute lymphoblastic leukemia (Q102293395), lymphoma (Q208414)
• IKZF1 DELETION (Q28382133): precursor B lymphoblastic lymphoma/leukemia (Q18557465): class of disease (Q112193867), precursor lymphoblastic lymphoma/leukemia (Q18556893), B-cell lymphoma (Q4833719), B-cell non-Hodgkin lymphoma (Q55785695), B-cell acute lymphoblastic leukemia (Q102293395)
• IKZF1 DELETION (Q28382133): precursor B lymphoblastic lymphoma/leukemia (Q18557465): class of disease (Q112193867), precursor lymphoblastic lymphoma/leukemia (Q18556893), B-cell lymphoma (Q4833719), B-cell non-Hodgkin lymphoma (Q55785695), B-cell acute lymphoblastic leukemia (Q102293395)
• TERT Promoter Mutation (Q28382152): skin melanoma (Q18558032): class of disease (Q112193867), skin cancer (Q192102), melanoma (Q180614)
• TERT Promoter Mutation (Q28382152): glioblastoma (Q282142): class of disease (Q112193867), astrocytoma (Q177755), disease (Q12136)
• TERT Promoter Mutation (Q28382152): thyroid cancer (Q826522): class of disease (Q112193867), endocrine gland cancer (Q18554878), thyroid neoplasm (Q13632630), thyroid gland disease (Q6673122), disease (Q12136)
• TERT Promoter Mutation (Q28382152): glioblastoma (Q282142): class of disease (Q112193867), astrocytoma (Q177755), disease (Q12136)
• TERT Promoter Mutation (Q28382152): pediatric low-grade glioma (Q102294353): class of disease (Q112193867), low grade glioma (Q55789758)
• TERT C228T (Q28382166): papillary thyroid cancer (Q2292945): class of disease (Q112193867), thyroid carcinoma (Q18556131), papillary carcinoma (Q18555294), differentiated thyroid carcinoma (Q56013722)
• EZH2 Intron 6 Mutation (Q28420932): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• MDM2 SNP309 (Q28423261): head and neck cancer (Q1783924): class of disease (Q112193867), organ system cancer (Q18553400), head and neck neoplasms (Q18975915), respiratory system cancer (Q7315926), disease (Q12136)
• CDKN2A RS3814960 (Q28423327): esophagus squamous cell carcinoma (Q18556059): class of disease (Q112193867), esophageal carcinoma (Q18553999), squamous cell carcinoma (Q681817)
• CASP8 D302H (Q28423335): neuroblastoma (Q938205): class of disease (Q112193867), cancer (Q12078), autonomic nervous system neoplasm (Q18555138), neuroblastic tumor (Q18975102), disease (Q12136), childhood cancer (Q5097977)
• HIF1A 3' UTR Polymorphism (Q28439513): pancreatic adenocarcinoma (Q18556189): class of disease (Q112193867), pancreatic carcinoma (Q18556536), adenocarcinoma (Q356033)
• CCND1 Amplification (Q28444926): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• CCND1 Expression (Q28444927): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• CCND1 Expression (Q28444927): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• CCND2 OVEREXPRESSION (Q28444928): stomach cancer (Q189588): class of disease (Q112193867), gastrointestinal system cancer (Q5526839), stomach neoplasm (Q4335552), stomach disease (Q175827), disease (Q12136)
• CCNE1 Overexpression (Q28444929): gastric adenosquamous carcinoma (Q18556915): class of disease (Q112193867), adenosquamous carcinoma (Q3658380), gastric squamous cell carcinoma (Q18556831), squamous cell carcinoma (Q681817), stomach carcinoma (Q3658392)
• CCNE1 Overexpression (Q28444929): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• BRCA1 Loss-of-function (Q28444937): prostate cancer (Q181257): class of disease (Q112193867), male reproductive organ cancer (Q18556093), prostate neoplasm (Q56014511), prostate disease (Q18556445), disease (Q12136)
• BRCA2 Loss-of-function (Q28444938): prostate cancer (Q181257): class of disease (Q112193867), male reproductive organ cancer (Q18556093), prostate neoplasm (Q56014511), prostate disease (Q18556445), disease (Q12136)
• BCL2 Overexpression (Q28444940): diffuse large B-cell lymphoma (Q2626074): class of disease (Q112193867), B-cell lymphoma (Q4833719), aggressive B-cell non-Hodgkin lymphoma (Q55787212)
• RUNX1 Mutation (Q28444943): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• RUNX1 Mutation (Q28444943): acute lymphocytic leukemia (Q180664): class of disease (Q112193867), acute leukemia (Q976388), lymphoblastic leukemia (Q18553852), disease (Q12136)
• RUNX1 Mutation (Q28444943): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• TET2 Mutation (Q28444945): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• VHL Loss-of-function (Q28444947): renal clear cell carcinoma (Q18556340): class of disease (Q112193867), renal cell carcinoma (Q1164529), clear cell carcinoma (Q18556242)
• EZH2 Mutation (Q28444950): myelodysplastic syndrome (Q954625): class of disease (Q112193867), myeloproliferative disorders (Q1898104), neoplastic syndrome (Q55789476), disease (Q12136)
• ASXL1 Mutation (Q28444953): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• ASXL1 Mutation (Q28444953): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• ASXL1 Mutation (Q28444953): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• ASXL1 Mutation (Q28444953): myelofibrosis (Q1752571): class of disease (Q112193867), myeloid neoplasm (Q18553734), acquired aplastic anemia (Q55785593), rare genetic immune disease (Q55785867), disease (Q12136)
• ASXL1 Mutation (Q28444953): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• ATM Mutation (Q28444954): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• ATM Mutation (Q28444954): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• CCNE1 Amplification (Q28444962): ovarian carcinoma (Q18556145): class of disease (Q112193867), malignant ovarian surface epithelial-stromal neoplasm (Q18555014), carcinoma (Q33525)
• DNMT3A Mutation (Q28444963): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• DNMT3A Mutation (Q28444963): myelodysplastic syndrome (Q954625): class of disease (Q112193867), myeloproliferative disorders (Q1898104), neoplastic syndrome (Q55789476), disease (Q12136)
• DNMT3A Mutation (Q28444963): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• DNMT3A Mutation (Q28444963): acute T cell leukemia (Q18556895): class of disease (Q112193867), T-cell leukemia (Q7667895)
• EGFR Amplification (Q28444964): Barrett's adenocarcinoma (Q18557775): class of disease (Q112193867), esophagus adenocarcinoma (Q18556542)
• EGFR Amplification (Q28444964): cervical squamous cell carcinoma (Q18556057): class of disease (Q112193867), cervix carcinoma (Q18555233), squamous cell carcinoma (Q681817)
• EGFR Amplification (Q28444964): head and neck squamous cell carcinoma (Q18348812): head and neck disease (Q55789477), rare disease (Q929833), class of disease (Q112193867), squamous cell carcinoma (Q681817), head and neck cancer (Q1783924), head and neck carcinoma (Q18554836)
• EGFR Overexpression (Q28444966): brain glioblastoma multiforme (Q18555279): class of disease (Q112193867), brain glioma (Q18553667)
• EGFR Overexpression (Q28444966): head and neck squamous cell carcinoma (Q18348812): head and neck disease (Q55789477), rare disease (Q929833), class of disease (Q112193867), squamous cell carcinoma (Q681817), head and neck cancer (Q1783924), head and neck carcinoma (Q18554836)
• EGFR Overexpression (Q28444966): esophagus squamous cell carcinoma (Q18556059): class of disease (Q112193867), esophageal carcinoma (Q18553999), squamous cell carcinoma (Q681817)
• NCOA3 AMPLIFICATION (Q28444969): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• NCOA3 OVEREXPRESSION (Q28444970): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• NOTCH1 Mutation (Q28444971): mantle cell lymphoma (Q268713): class of disease (Q112193867), B-cell lymphoma (Q4833719), aggressive B-cell non-Hodgkin lymphoma (Q55787212), disease (Q12136)
• NOTCH1 Mutation (Q28444971): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• NOTCH1 Mutation (Q28444971): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• NOTCH1 Mutation (Q28444971): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• NRAS Mutation (Q28444972): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• NRAS Mutation (Q28444972): melanoma (Q180614): rare disease (Q929833), class of disease (Q112193867), skin cancer (Q192102), cell type cancer (Q18553402), disease (Q12136)
• PGR Expression (Q28444973): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• PIK3CA Amplification (Q28444974): gastric adenocarcinoma (Q18556047): class of disease (Q112193867), stomach carcinoma (Q3658392), adenocarcinoma (Q356033)
• PTEN Deletion (Q28444975): prostate adenocarcinoma (Q18555107): class of disease (Q112193867), prostate carcinoma (Q18553829), adenocarcinoma (Q356033)
• PTEN Deletion (Q28444975): prostate cancer (Q181257): class of disease (Q112193867), male reproductive organ cancer (Q18556093), prostate neoplasm (Q56014511), prostate disease (Q18556445), disease (Q12136)
• PTEN Loss (Q28444976): prostate cancer (Q181257): class of disease (Q112193867), male reproductive organ cancer (Q18556093), prostate neoplasm (Q56014511), prostate disease (Q18556445), disease (Q12136)
• SF3B1 Mutation (Q28444977): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• SF3B1 Mutation (Q28444977): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• SF3B1 Mutation (Q28444977): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• SMAD4 MUTATION (Q28444978): pancreatic adenocarcinoma (Q18556189): class of disease (Q112193867), pancreatic carcinoma (Q18556536), adenocarcinoma (Q356033)
• TERT Amplification (Q28444980): acral lentiginous melanoma (Q4675038): class of disease (Q112193867), skin melanoma (Q18558032), disease (Q12136)
• TP53 Mutation (Q28444982): head and neck squamous cell carcinoma (Q18348812): head and neck disease (Q55789477), rare disease (Q929833), class of disease (Q112193867), squamous cell carcinoma (Q681817), head and neck cancer (Q1783924), head and neck carcinoma (Q18554836)
• TP53 Mutation (Q28444982): esophagus squamous cell carcinoma (Q18556059): class of disease (Q112193867), esophageal carcinoma (Q18553999), squamous cell carcinoma (Q681817)
• TP53 Mutation (Q28444982): myeloid neoplasm (Q18553734): class of disease (Q112193867), myeloproliferative disorders (Q1898104)
• TP53 Mutation (Q28444982): head and neck squamous cell carcinoma (Q18348812): head and neck disease (Q55789477), rare disease (Q929833), class of disease (Q112193867), squamous cell carcinoma (Q681817), head and neck cancer (Q1783924), head and neck carcinoma (Q18554836)
• TP53 Mutation (Q28444982): head and neck squamous cell carcinoma (Q18348812): head and neck disease (Q55789477), rare disease (Q929833), class of disease (Q112193867), squamous cell carcinoma (Q681817), head and neck cancer (Q1783924), head and neck carcinoma (Q18554836)
• TP53 Mutation (Q28444982): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• TP53 Mutation (Q28444982): adrenocortical carcinoma (Q918285): rare disease (Q929833), class of disease (Q112193867), adrenal cortex cancer (Q18557308), carcinoma (Q33525)
• TP53 Mutation (Q28444982): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• TP53 Mutation (Q28444982): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• TP53 Mutation (Q28444982): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• TP53 Mutation (Q28444982): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• TP53 Mutation (Q28444982): myelodysplastic syndrome (Q954625): class of disease (Q112193867), myeloproliferative disorders (Q1898104), neoplastic syndrome (Q55789476), disease (Q12136)
• TP53 Mutation (Q28444982): precursor B lymphoblastic lymphoma/leukemia (Q18557465): class of disease (Q112193867), precursor lymphoblastic lymphoma/leukemia (Q18556893), B-cell lymphoma (Q4833719), B-cell non-Hodgkin lymphoma (Q55785695), B-cell acute lymphoblastic leukemia (Q102293395)
• FGFR1 Amplification (Q28444992): squamous cell carcinoma of the lung (Q5749020): class of disease (Q112193867), squamous cell carcinoma (Q681817), lung cancer (Q47912), non-small-cell lung carcinoma (Q3658562), disease (Q12136)
• FGFR1 Amplification (Q28444992): squamous cell carcinoma of the lung (Q5749020): class of disease (Q112193867), squamous cell carcinoma (Q681817), lung cancer (Q47912), non-small-cell lung carcinoma (Q3658562), disease (Q12136)
• FGFR1 Amplification (Q28444992): squamous cell carcinoma of the lung (Q5749020): class of disease (Q112193867), squamous cell carcinoma (Q681817), lung cancer (Q47912), non-small-cell lung carcinoma (Q3658562), disease (Q12136)
• FGFR1 Amplification (Q28444992): cancer (Q12078): class of disease (Q112193867), disease of cellular proliferation (Q18554796), neoplasm (Q1216998), tumor (Q133212), disease (Q12136)
• FGFR1 Expression (Q28444993): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• FGFR1 Expression (Q28444993): head and neck squamous cell carcinoma (Q18348812): head and neck disease (Q55789477), rare disease (Q929833), class of disease (Q112193867), squamous cell carcinoma (Q681817), head and neck cancer (Q1783924), head and neck carcinoma (Q18554836)
• FGFR1 Expression (Q28444993): head and neck squamous cell carcinoma (Q18348812): head and neck disease (Q55789477), rare disease (Q929833), class of disease (Q112193867), squamous cell carcinoma (Q681817), head and neck cancer (Q1783924), head and neck carcinoma (Q18554836)
• CD274 Expression (Q28444998): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• CD274 Expression (Q28444998): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• CD274 Expression (Q28444998): papillary thyroid cancer (Q2292945): class of disease (Q112193867), thyroid carcinoma (Q18556131), papillary carcinoma (Q18555294), differentiated thyroid carcinoma (Q56013722)
• CD274 Expression (Q28444998): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• CD274 Expression (Q28444998): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• CD274 Expression (Q28444998): cancer (Q12078): class of disease (Q112193867), disease of cellular proliferation (Q18554796), neoplasm (Q1216998), tumor (Q133212), disease (Q12136)
• MTOR MUTATION (Q28444999): melanoma (Q180614): rare disease (Q929833), class of disease (Q112193867), skin cancer (Q192102), cell type cancer (Q18553402), disease (Q12136)
• EZH2 Overexpression (Q28445005): cancer (Q12078): class of disease (Q112193867), disease of cellular proliferation (Q18554796), neoplasm (Q1216998), tumor (Q133212), disease (Q12136)
• RET EXPRESSION (Q28445007): adenocarcinoma of the lung (Q843799): class of disease (Q112193867), lung cancer (Q47912), adenocarcinoma (Q356033), adenocarcinoma (Q356033)
• RIT1 OVEREXPRESSION (Q28445008): endometrial cancer (Q944777): class of disease (Q112193867), uterine cancer (Q1209744), uterine corpus cancer (Q18558133), endometriosis (Q205764), endometrial neoplasm (Q58833978), disease (Q12136)
• MYCN Amplification (Q28445010): neuroblastoma (Q938205): class of disease (Q112193867), cancer (Q12078), autonomic nervous system neoplasm (Q18555138), neuroblastic tumor (Q18975102), disease (Q12136), childhood cancer (Q5097977)
• PIK3CA Mutation (Q28445019): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• PIK3CA Mutation (Q28445019): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• TGFA EXPRESSION (Q28445023): head and neck squamous cell carcinoma (Q18348812): head and neck disease (Q55789477), rare disease (Q929833), class of disease (Q112193867), squamous cell carcinoma (Q681817), head and neck cancer (Q1783924), head and neck carcinoma (Q18554836)
• EREG EXPRESSION (Q28445024): adenocarcinoma of the lung (Q843799): class of disease (Q112193867), lung cancer (Q47912), adenocarcinoma (Q356033), adenocarcinoma (Q356033)
• NOTCH1 AMPLIFICATION (Q28445033): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• KRAS Mutation (Q28445037): pseudomyxoma peritonei (Q574694): colonic disease (Q18556754), class of disease (Q112193867), appendix cancer (Q4781026), peritoneal neoplasm (Q19000425), primary peritoneal tumor (Q55785645), mucinous adenocarcinoma of the appendix (Q55787959), disease (Q12136)
• KRAS Mutation (Q28445037): adenocarcinoma of the lung (Q843799): class of disease (Q112193867), lung cancer (Q47912), adenocarcinoma (Q356033), adenocarcinoma (Q356033)
• KRAS Mutation (Q28445037): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• MDM2 EXPRESSION (Q28445042): malignant pleural mesothelioma (Q18557602): class of disease (Q112193867), pleural cancer (Q18556654), benign pleural mesothelioma (Q18556653), mesothelioma (Q1077603), squamous cell carcinoma (Q681817), respiratory system cancer (Q7315926), pleural disease (Q7204732)
• SPHK1 OVEREXPRESSION (Q28445044): cervix uterine cancer (Q160105): class of disease (Q112193867), uterine cancer (Q1209744), cervix disease (Q18555046), uterine cervix neoplasm (Q56014502), disease (Q12136)
• SMARCA4 UNDEREXPRESSION (Q28445048): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• BRAF Mutation (Q28445087): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• BRAF Mutation (Q28445087): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• THBS2 UNDEREXPRESSION (Q28445100): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• HIF1A OVEREXPRESSION (Q28445105): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• HIF1A OVEREXPRESSION (Q28445105): sarcoma (Q223911): class of disease (Q112193867), cell type cancer (Q18553402), disease (Q12136)
• EPAS1 OVEREXPRESSION (Q28445106): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• PSMB8 NUCLEAR EXPRESSION (Q28445108): gastric adenocarcinoma (Q18556047): class of disease (Q112193867), stomach carcinoma (Q3658392), adenocarcinoma (Q356033)
• PBK NUCLEAR EXPRESSION (Q28445109): gastric adenocarcinoma (Q18556047): class of disease (Q112193867), stomach carcinoma (Q3658392), adenocarcinoma (Q356033)
• PTTG1 OVEREXPRESSION (Q28445110): meningioma (Q369157): class of disease (Q112193867), meningeal neoplasm (Q66106658), central nervous system cancer (Q18556002), disease (Q12136)
• LEPR UNDEREXPRESSION (Q28445111): meningioma (Q369157): class of disease (Q112193867), meningeal neoplasm (Q66106658), central nervous system cancer (Q18556002), disease (Q12136)
• NEDD9 EXPRESSION (Q28445112): hepatocellular carcinoma (Q1148337): class of disease (Q112193867), liver carcinoma (Q18557387), disease (Q12136)
• KRT18 UNDEREXPRESSION (Q28445113): prostate cancer (Q181257): class of disease (Q112193867), male reproductive organ cancer (Q18556093), prostate neoplasm (Q56014511), prostate disease (Q18556445), disease (Q12136)
• CIP2A EXPRESSION (Q28445116): pancreatic ductal adenocarcinoma (Q18555956): class of disease (Q112193867), pancreatic adenocarcinoma (Q18556189)
• HSPH1 NUCLEAR EXPRESSION (Q28445127): gastric adenocarcinoma (Q18556047): class of disease (Q112193867), stomach carcinoma (Q3658392), adenocarcinoma (Q356033)
• PIM1 NUCLEAR EXPRESSION (Q28445131): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• MIR218-1 UNDEREXPRESSION (Q28445132): pancreatic cancer (Q212961): class of disease (Q112193867), endocrine gland cancer (Q18554878), pancreas disease (Q7130407), pancreatic neoplasm (Q7130412), gastrointestinal system cancer (Q5526839), disease (Q12136)
• U2AF1 MUTATION (Q28445140): myelofibrosis (Q1752571): class of disease (Q112193867), myeloid neoplasm (Q18553734), acquired aplastic anemia (Q55785593), rare genetic immune disease (Q55785867), disease (Q12136)
• B4GALT1 Overexpression (Q28445141): renal cell carcinoma (Q1164529): class of disease (Q112193867), renal carcinoma (Q18556333), disease (Q12136)
• SIRT1 OVEREXPRESSION (Q28445143): pancreatic ductal carcinoma (Q8263002): class of disease (Q112193867), pancreatic cancer (Q212961), ductal carcinoma (Q5311598), pancreatic carcinoma (Q18556536)
• PTPN11 Overexpression (Q28445148): laryngeal carcinoma (Q18555132): class of disease (Q112193867), laryngeal cancer (Q852423), carcinoma (Q33525)
• ACTA1 EXPRESSION (Q28445150): adenocarcinoma of the lung (Q843799): class of disease (Q112193867), lung cancer (Q47912), adenocarcinoma (Q356033), adenocarcinoma (Q356033)
• CDKN2A Loss (Q28445153): acute lymphocytic leukemia (Q180664): class of disease (Q112193867), acute leukemia (Q976388), lymphoblastic leukemia (Q18553852), disease (Q12136)
• SMAD4 LOSS (Q28445158): pancreatic cancer (Q212961): class of disease (Q112193867), endocrine gland cancer (Q18554878), pancreas disease (Q7130407), pancreatic neoplasm (Q7130412), gastrointestinal system cancer (Q5526839), disease (Q12136)
• KRAS Amplification (Q28445165): endometrial cancer (Q944777): class of disease (Q112193867), uterine cancer (Q1209744), uterine corpus cancer (Q18558133), endometriosis (Q205764), endometrial neoplasm (Q58833978), disease (Q12136)
• SRSF2 MUTATION (Q28445167): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• RET Overexpression (Q28445169): adenocarcinoma of the lung (Q843799): class of disease (Q112193867), lung cancer (Q47912), adenocarcinoma (Q356033), adenocarcinoma (Q356033)
• POT1 MUTATION (Q28445177): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• MKI67 EXPRESSION (Q28445178): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• MKI67 EXPRESSION (Q28445178): prostate cancer (Q181257): class of disease (Q112193867), male reproductive organ cancer (Q18556093), prostate neoplasm (Q56014511), prostate disease (Q18556445), disease (Q12136)
• PRDM1 MUTATION (Q28445188): diffuse large B-cell lymphoma (Q2626074): class of disease (Q112193867), B-cell lymphoma (Q4833719), aggressive B-cell non-Hodgkin lymphoma (Q55787212)
• LRP1B DELETION (Q28445191): glioblastoma (Q282142): class of disease (Q112193867), astrocytoma (Q177755), disease (Q12136)
• ATRX Underexpression (Q28445192): glioblastoma (Q282142): class of disease (Q112193867), astrocytoma (Q177755), disease (Q12136)
• ATRX Underexpression (Q28445192): pediatric low-grade glioma (Q102294353): class of disease (Q112193867), low grade glioma (Q55789758)
• AXL EXPRESSION (Q28445193): esophagus squamous cell carcinoma (Q18556059): class of disease (Q112193867), esophageal carcinoma (Q18553999), squamous cell carcinoma (Q681817)
• GAS6 EXPRESSION (Q28445194): oral squamous cell carcinoma (Q18553522): head and neck disease (Q55789477), class of disease (Q112193867), mouth cancer (Q1143025), head and neck squamous cell carcinoma (Q18348812), lip and oral cavity carcinoma (Q55790434), squamous cell carcinoma (Q681817)
• ETV4 OVEREXPRESSION (Q28445195): prostate cancer (Q181257): class of disease (Q112193867), male reproductive organ cancer (Q18556093), prostate neoplasm (Q56014511), prostate disease (Q18556445), disease (Q12136)
• MLH1 EXPRESSION (Q28445199): stomach carcinoma (Q3658392): class of disease (Q112193867), stomach cancer (Q189588), carcinoma (Q33525)
• CDH1 MUTATION (Q28445202): stomach carcinoma (Q3658392): class of disease (Q112193867), stomach cancer (Q189588), carcinoma (Q33525)
• RHOA MUTATION (Q28445203): stomach carcinoma (Q3658392): class of disease (Q112193867), stomach cancer (Q189588), carcinoma (Q33525)
• KMT2C MUTATION (Q28445206): cutaneous squamous-cell carcinoma (Q5749018): class of disease (Q112193867), skin carcinoma (Q18555943), squamous cell carcinoma (Q681817), disease (Q12136)
• STAG2 MUTATION (Q28445207): bone Ewing's sarcoma (Q18555396): class of disease (Q112193867), Ewing sarcoma (Q1138580)
• STAG2 MUTATION (Q28445207): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• CYP2D6 LOSS-OF-FUNCTION (Q28445224): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• KIT D816V (Q28531481): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• KIT D816V (Q28531481): systemic mastocytosis (Q3851644): class of disease (Q112193867), mastocytosis (Q112670)
• KRAS Q61 (Q28531489): multiple myeloma (Q467635): class of disease (Q112193867), leukocyte disease (Q18558143), myeloid neoplasm (Q18553734), immunoproliferative disorder (Q8578535), disease (Q12136)
• TP53 Truncating Mutation (Q28531491): head and neck squamous cell carcinoma (Q18348812): head and neck disease (Q55789477), rare disease (Q929833), class of disease (Q112193867), squamous cell carcinoma (Q681817), head and neck cancer (Q1783924), head and neck carcinoma (Q18554836)
• TP53 Truncating Mutation (Q28531491): head and neck squamous cell carcinoma (Q18348812): head and neck disease (Q55789477), rare disease (Q929833), class of disease (Q112193867), squamous cell carcinoma (Q681817), head and neck cancer (Q1783924), head and neck carcinoma (Q18554836)
• ASXL1 EXON 12 MUTATION (Q28532458): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• BIRC3 TRUNCATING MUTATION (Q28532461): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• NRAS G12/G13 (Q28532463): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• CDKN2B METHYLATION (Q28532489): acute promyelocytic leukemia (Q612108): class of disease (Q112193867), symptom or sign (Q112965645), acute myeloid leukemia (Q264118), bilineal acute myeloid leukemia (Q55783213), disease (Q12136)
• RB1 EXPRESSION (Q28546456): non-small-cell lung carcinoma (Q3658562): class of disease (Q112193867), lung carcinoma (Q18556110), lung cancer (Q47912), disease (Q12136)
• GNAS MUTATION (Q29938316): pseudomyxoma peritonei (Q574694): colonic disease (Q18556754), class of disease (Q112193867), appendix cancer (Q4781026), peritoneal neoplasm (Q19000425), primary peritoneal tumor (Q55785645), mucinous adenocarcinoma of the appendix (Q55787959), disease (Q12136)
• GNAS c.393T>C (Q29938321): intrahepatic cholangiocarcinoma (Q18556554): class of disease (Q112193867), cholangiocarcinoma (Q124292)
• GNAS c.393T>C (Q29938321): breast carcinoma (Q18555947): class of disease (Q112193867), breast cancer (Q128581)
• MAP2K1 K57N (Q29938776): adenocarcinoma of the lung (Q843799): class of disease (Q112193867), lung cancer (Q47912), adenocarcinoma (Q356033), adenocarcinoma (Q356033)
• CTNNB1 S45F (Q29938794): aggressive fibromatosis (Q475086): disease (Q12136), fibromatosis (Q1410851), connective tissue benign neoplasm (Q18553680)
• CTNNB1 S45F (Q29938794): aggressive fibromatosis (Q475086): disease (Q12136), fibromatosis (Q1410851), connective tissue benign neoplasm (Q18553680)
• TP53 CONSERVED DOMAIN MUT (Q29938814): ovarian cancer (Q172341): class of disease (Q112193867), female reproductive organ cancer (Q18554220), ovarian neoplasm (Q11793790), ovarian disease (Q7113244), endocrine gland cancer (Q18554878), rare genetic endocrine disease (Q55785525), inherited gynecological tumor (Q55785864), disease (Q12136)
• TP53 Overexpression (Q32964718): ovarian cancer (Q172341): class of disease (Q112193867), female reproductive organ cancer (Q18554220), ovarian neoplasm (Q11793790), ovarian disease (Q7113244), endocrine gland cancer (Q18554878), rare genetic endocrine disease (Q55785525), inherited gynecological tumor (Q55785864), disease (Q12136)
• TP53 Overexpression (Q32964718): renal Wilms' tumor (Q18556662): class of disease (Q112193867), nephroblastoma (Q756289)
• TP53 ALTERATION (Q32964722): ovarian cancer (Q172341): class of disease (Q112193867), female reproductive organ cancer (Q18554220), ovarian neoplasm (Q11793790), ovarian disease (Q7113244), endocrine gland cancer (Q18554878), rare genetic endocrine disease (Q55785525), inherited gynecological tumor (Q55785864), disease (Q12136)
• ARID1A Underexpression (Q42786797): renal clear cell carcinoma (Q18556340): class of disease (Q112193867), renal cell carcinoma (Q1164529), clear cell carcinoma (Q18556242)
• ARID1A Underexpression (Q42786797): clear-cell ovarian carcinoma (Q5130609): class of disease (Q112193867), ovarian carcinoma (Q18556145), clear cell carcinoma (Q18556242), ovarian clear cell tumor (Q55789513)
• ARID1A Underexpression (Q42786797): stomach cancer (Q189588): class of disease (Q112193867), gastrointestinal system cancer (Q5526839), stomach neoplasm (Q4335552), stomach disease (Q175827), disease (Q12136)
• BCL2 Mutation (Q50092885): follicular lymphoma (Q123251): class of disease (Q112193867), B-cell lymphoma (Q4833719)
• BTK MUTATION (Q56240979): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• PLCG2 MUTATION (Q56240980): chronic lymphocytic leukemia (Q1088156): class of disease (Q112193867), symptom or sign (Q112965645), lymphoblastic leukemia (Q18553852), chronic leukemia (Q5113979), small lymphocytic lymphoma (Q9022766), lymphoma (Q208414), leukemia (Q29496), disease (Q12136)
• PIK3CA EXON 9 MUTATION (Q56241012): breast cancer (Q128581): class of disease (Q112193867), symptom or sign (Q112965645), thoracic cancer (Q18556617), breast disease (Q4959796), breast neoplasm (Q23929670), disease (Q12136)
• FOXO1 PAX3::FOXO1 (Q60243475): alveolar rhabdomyosarcoma (Q4737958): class of disease (Q112193867), rhabdomyosarcoma (Q1898141)
• HRAS Q61 (Q66084570): follicular thyroid cancer (Q5464665): class of disease (Q112193867), thyroid carcinoma (Q18556131), adenocarcinoma (Q356033)
• CRLF2 IGH::CRLF2 (Q66084583): B-cell adult acute lymphocytic leukemia (Q26492800): class of disease (Q112193867), adult acute lymphocytic leukemia (Q18556896), B-cell childhood acute lymphoblastic leukemia (Q26492840), lymphoma (Q208414)
• ABL1 SNX2::ABL1 (Q76177407): precursor B lymphoblastic lymphoma/leukemia (Q18557465): class of disease (Q112193867), precursor lymphoblastic lymphoma/leukemia (Q18556893), B-cell lymphoma (Q4833719), B-cell non-Hodgkin lymphoma (Q55785695), B-cell acute lymphoblastic leukemia (Q102293395)
• NT5C2 Mutation (Q83482789): childhood acute lymphocytic leukemia (Q26492838): class of disease (Q112193867), acute lymphocytic leukemia (Q180664), childhood leukemia (Q5097982)
• H3-3A MUTATION (Q86216993): pediatric low-grade glioma (Q102294353): class of disease (Q112193867), low grade glioma (Q55789758)
• ATRX DELETION (Q86217001): pediatric low-grade glioma (Q102294353): class of disease (Q112193867), low grade glioma (Q55789758)
• CDKN2A Deletion (Q86217006): pediatric low-grade glioma (Q102294353): class of disease (Q112193867), low grade glioma (Q55789758)
• IKZF1 IKZF1 deletion and mutation (Q86217213): B-cell childhood acute lymphoblastic leukemia (Q26492840): class of disease (Q112193867), childhood acute lymphocytic leukemia (Q26492838), B-cell acute lymphoblastic leukemia (Q102293395), lymphoma (Q208414)
• NT5C2 R238W (Q86217552): childhood acute lymphocytic leukemia (Q26492838): class of disease (Q112193867), acute lymphocytic leukemia (Q180664), childhood leukemia (Q5097982)
• PRPS1 PRPS1 MUTATION (Q86217682): B-cell childhood acute lymphoblastic leukemia (Q26492840): class of disease (Q112193867), childhood acute lymphocytic leukemia (Q26492838), B-cell acute lymphoblastic leukemia (Q102293395), lymphoma (Q208414)
• PRPS1 A190T (Q86217724): B-cell childhood acute lymphoblastic leukemia (Q26492840): class of disease (Q112193867), childhood acute lymphocytic leukemia (Q26492838), B-cell acute lymphoblastic leukemia (Q102293395), lymphoma (Q208414)
• NRG1 SLC3A2::NRG1 (Q92589702): adenocarcinoma of the lung (Q843799): class of disease (Q112193867), lung cancer (Q47912), adenocarcinoma (Q356033), adenocarcinoma (Q356033)
• PIK3CA Exon 10 and Exon 21 Mutation (Q96007037): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• MYOD1 L122R (Q96649459): spindle cell rhabdomyosarcoma (Q7577499): class of disease (Q112193867), embryonal rhabdomyosarcoma (Q5370233), spindle cell cancer (Q18975358), spindle cell/sclerosing rhabdomyosarcoma (Q92468116)
• MYOD1 L122R (Q96649459): spindle cell rhabdomyosarcoma (Q7577499): class of disease (Q112193867), embryonal rhabdomyosarcoma (Q5370233), spindle cell cancer (Q18975358), spindle cell/sclerosing rhabdomyosarcoma (Q92468116)
• NT5C2 S445F (Q105669088): childhood acute lymphocytic leukemia (Q26492838): class of disease (Q112193867), acute lymphocytic leukemia (Q180664), childhood leukemia (Q5097982)
• AKT1 S473 Phosphorylation (Q105669122): colorectal cancer (Q188874): class of disease (Q112193867), colorectal neoplasm (Q58833976), large intestine cancer (Q12048781), disease (Q12136)
• ABL1 LSM14A::ABL1 (Q106942751): B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like (Q102293603): class of disease (Q112193867), precursor B lymphoblastic lymphoma/leukemia (Q18557465)
• PIK3CA Exon 10 or Exon 21 Mutation (Q106942755): rectum cancer (Q2739660): class of disease (Q112193867), colorectal cancer (Q188874), rectal neoplasm (Q18554955)
• CD44 CD44v6 (Q107522022): ovarian cancer (Q172341): class of disease (Q112193867), female reproductive organ cancer (Q18554220), ovarian neoplasm (Q11793790), ovarian disease (Q7113244), endocrine gland cancer (Q18554878), rare genetic endocrine disease (Q55785525), inherited gynecological tumor (Q55785864), disease (Q12136)
• NUP98 NUP98::NSD1 (Q108900602): acute myeloid leukemia (Q264118): class of disease (Q112193867), acute leukemia (Q976388), myeloid leukemia (Q11688946), disease (Q12136)
• ABL1 FOXP1::ABL1 (Q111398979): B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like (Q102293603): class of disease (Q112193867), precursor B lymphoblastic lymphoma/leukemia (Q18557465)
• PIK3CA H1047L or H1047R (Q111692267): invasive tubular breast carcinoma (Q18557304): class of disease (Q112193867), breast adenocarcinoma (Q18555946), invasive ductal carcinoma (Q1671685)

Types statistics

Accepted	Type	Usage
No	class of disease (Q112193867)	304
No	disease (Q12136)	197
No	symptom or sign (Q112965645)	41
No	acute leukemia (Q976388)	36
No	lung cancer (Q47912)	33
No	myeloid leukemia (Q11688946)	33
No	squamous cell carcinoma (Q681817)	26
No	colorectal neoplasm (Q58833976)	26
No	large intestine cancer (Q12048781)	26
No	lymphoma (Q208414)	26
No	adenocarcinoma (Q356033)	25
No	lymphoblastic leukemia (Q18553852)	23
No	lung carcinoma (Q18556110)	21
No	thoracic cancer (Q18556617)	20
No	chronic leukemia (Q5113979)	20
No	breast disease (Q4959796)	20
No	breast neoplasm (Q23929670)	20
No	rare disease (Q929833)	19
No	small lymphocytic lymphoma (Q9022766)	19
No	leukemia (Q29496)	19
No	head and neck disease (Q55789477)	15
No	head and neck carcinoma (Q18554836)	13
No	head and neck cancer (Q1783924)	13
No	thyroid carcinoma (Q18556131)	10
No	B-cell acute lymphoblastic leukemia (Q102293395)	10
No	B-cell lymphoma (Q4833719)	10
No	endocrine gland cancer (Q18554878)	9
No	carcinoma (Q33525)	8
No	prostate neoplasm (Q56014511)	8
No	male reproductive organ cancer (Q18556093)	8
No	gastrointestinal system cancer (Q5526839)	8
No	prostate disease (Q18556445)	8
No	papillary carcinoma (Q18555294)	7
No	myeloproliferative disorders (Q1898104)	7
No	differentiated thyroid carcinoma (Q56013722)	7
No	myeloid neoplasm (Q18553734)	7
No	childhood acute lymphocytic leukemia (Q26492838)	6
No	low grade glioma (Q55789758)	6
No	neoplastic syndrome (Q55789476)	6
No	aggressive B-cell non-Hodgkin lymphoma (Q55787212)	5
No	skin cancer (Q192102)	5
No	leukocyte disease (Q18558143)	5
No	stomach carcinoma (Q3658392)	5
No	immunoproliferative disorder (Q8578535)	5
No	cell type cancer (Q18553402)	5
No	astrocytoma (Q177755)	5
No	uterine cancer (Q1209744)	5
No	inherited gynecological tumor (Q55785864)	4
No	precursor lymphoblastic lymphoma/leukemia (Q18556893)	4
No	pancreas disease (Q7130407)	4
No	ovarian disease (Q7113244)	4
No	pancreatic neoplasm (Q7130412)	4
No	uterine corpus cancer (Q18558133)	4
No	ovarian neoplasm (Q11793790)	4
No	clear cell carcinoma (Q18556242)	4
No	esophageal carcinoma (Q18553999)	4
No	female reproductive organ cancer (Q18554220)	4
No	rare genetic endocrine disease (Q55785525)	4
No	B-cell non-Hodgkin lymphoma (Q55785695)	4
No	pancreatic cancer (Q212961)	3
No	endometriosis (Q205764)	3
No	acute lymphocytic leukemia (Q180664)	3
No	neoplasm (Q1216998)	3
No	non-small-cell lung carcinoma (Q3658562)	3
No	endometrial neoplasm (Q58833978)	3
No	stomach cancer (Q189588)	3
No	colorectal cancer (Q188874)	3
No	childhood leukemia (Q5097982)	3
No	renal cell carcinoma (Q1164529)	3
No	tumor (Q133212)	3
No	rectal neoplasm (Q18554955)	3
No	disease of cellular proliferation (Q18554796)	3
No	respiratory system cancer (Q7315926)	3
No	pancreatic carcinoma (Q18556536)	3
No	mucinous adenocarcinoma of the appendix (Q55787959)	2
No	colonic disease (Q18556754)	2
No	stomach disease (Q175827)	2
No	spindle cell/sclerosing rhabdomyosarcoma (Q92468116)	2
No	Stromal tumor (Q16869243)	2
No	stomach neoplasm (Q4335552)	2
No	appendix cancer (Q4781026)	2
No	fibromatosis (Q1410851)	2
No	childhood cancer (Q5097977)	2
No	mesenchymal tumor of small intestine (Q55788134)	2
No	embryonal rhabdomyosarcoma (Q5370233)	2
No	lip and oral cavity carcinoma (Q55790434)	2
No	synovium cancer (Q18555170)	2
No	bilineal acute myeloid leukemia (Q55783213)	2
No	autonomic nervous system neoplasm (Q18555138)	2
No	acquired aplastic anemia (Q55785593)	2
No	rare genetic intestinal disease (Q55785596)	2
No	primary peritoneal tumor (Q55785645)	2
No	cervix disease (Q18555046)	2
No	rare genetic immune disease (Q55785867)	2
No	inherited digestive tract tumor (Q55786847)	2
No	precursor B lymphoblastic lymphoma/leukemia (Q18557465)	2
No	spindle cell cancer (Q18975358)	2
No	neuroblastic tumor (Q18975102)	2
No	cancer (Q12078)	2
No	peritoneal neoplasm (Q19000425)	2
No	meningeal neoplasm (Q66106658)	2
No	connective tissue benign neoplasm (Q18553680)	2
No	thyroid gland disease (Q6673122)	2
No	uterine cervix neoplasm (Q56014502)	2
No	head and neck squamous cell carcinoma (Q18348812)	2
No	acute myeloid leukemia (Q264118)	2
No	mouth cancer (Q1143025)	2
No	central nervous system cancer (Q18556002)	2
No	mesothelioma (Q1077603)	1
No	pleural disease (Q7204732)	1
No	medullary carcinoma (Q6807316)	1
No	chronic myeloid leukemia (Q729735)	1
No	Ewing sarcoma (Q1138580)	1
No	serous cystadenocarcinoma (Q7455060)	1
No	breast cancer (Q128581)	1
No	mastocytosis (Q112670)	1
No	nephroblastoma (Q756289)	1
No	T-cell leukemia (Q7667895)	1
No	cholangiocarcinoma (Q124292)	1
No	ovarian clear cell tumor (Q55789513)	1
No	laryngeal cancer (Q852423)	1
No	pancreatic exocrine neoplasm (Q56014474)	1
No	renal carcinoma (Q18556333)	1
No	adrenal cortex cancer (Q18557308)	1
No	adult acute lymphocytic leukemia (Q18556896)	1
No	gastric squamous cell carcinoma (Q18556831)	1
No	pleural cancer (Q18556654)	1
No	benign pleural mesothelioma (Q18556653)	1
No	myelodysplastic/myeloproliferative neoplasm (Q18556570)	1
No	esophagus adenocarcinoma (Q18556542)	1
No	prostate carcinoma (Q18553829)	1
No	liver carcinoma (Q18557387)	1
No	pancreatic adenocarcinoma (Q18556189)	1
No	ovarian carcinoma (Q18556145)	1
No	parietal lobe malignant neoplasm (Q18554751)	1
No	breast adenocarcinoma (Q18555946)	1
No	skin carcinoma (Q18555943)	1
No	cervix carcinoma (Q18555233)	1
No	malignant ovarian surface epithelial-stromal neoplasm (Q18555014)	1
No	ependymoma (Q1346753)	1
No	skin melanoma (Q18558032)	1
No	brain glioma (Q18553667)	1
No	head and neck neoplasms (Q18975915)	1
No	gastrointestinal carcinoma (Q18553565)	1
No	rhabdomyosarcoma (Q1898141)	1
No	organ system cancer (Q18553400)	1
No	B-cell childhood acute lymphoblastic leukemia (Q26492840)	1
No	melanoma (Q180614)	1
No	lung disease (Q3392853)	1
No	adenosquamous carcinoma (Q3658380)	1
No	invasive ductal carcinoma (Q1671685)	1
No	lung neoplasm (Q15124212)	1
No	thyroid neoplasm (Q13632630)	1
No	ductal carcinoma (Q5311598)	1
No	follicular thyroid cancer (Q5464665)	1