| UMLS CUI | UMLS Term |
Proteins |
C0206682 | Follicular Thyroid Carcinoma |
NRAS, SRGAP1, MINPP1 |
C0206686 | Adrenocortical Carcinoma |
CTNNB1, EGFR, IGF1R, IGF2, RB1, RRM1, SPARC, TOP2A, TP53, MED12 |
C0206692 | Carcinoma, Lobular |
AGTR2, STAT5A |
C0206693 | Medullary Carcinoma |
HPGD |
C0206698 | Cholangiocarcinoma |
EGFR, ERBB2, FGFR2, GNAS, IDH1, IDH2, IL6, KRAS, SMAD4, PEG3, PBRM1, PRKACA, PTGS2, KMT2C, ROBO2, SLC5A5, TP53, ARID1A, BAP1 |
C0206704 | Carcinoma, Large Cell |
CYP2A6, PYCARD |
C0206708 | Cervical Intraepithelial Neoplasia |
MTHFR |
C0206711 | Pilomatrixoma |
CTNNB1, MUTYH |
C0206720 | Squamous Cell Neoplasms |
BRCA2 |
C0206724 | Sex Cord-Stromal Tumor |
GNAS |
C0206726 | Gliosarcoma |
TACC3, CYP2B6, EGFR, FGFR1, IDH1, PPARG, TACC1, TP53, VEGFA |
C0206727 | Nerve Sheath Tumors |
SUZ12 |
C0206729 | Neurofibrosarcoma |
MXI1, NRAS |
C0206732 | Epithelioid Hemangioendothelioma |
YAP1, CAMTA1 |
C0206734 | Hemangioblastoma |
NDRG1, HIF1A |
C0206754 | Neuroendocrine Tumors |
CDKN1B, ATRX, PTHLH, SSTR1, TYMS |
C0206769 | Nevi And Melanomas |
BAP1 |
C0221013 | Mastocytosis, Systemic |
HMOX1, KIT |
C0238198 | Gastrointestinal Stromal Tumors |
DMD, KIT, MTHFR, PDGFRA, SDHA, SDHB, SDHC |
C0238461 | Anaplastic Thyroid Carcinoma |
SOD2, TP53 |
C0242379 | Malignant Neoplasm Of Lung |
KLC3, ERCC2, ACTA2, BRCA2, CLPTM1L |
C0242647 | Mucosa-Associated Lymphoid Tissue Lymphoma |
BCL10 |
C0242788 | Breast Neoplasms, Male |
TOX3, AR |
C0243038 | Carcinoma, Lewis Lung |
TXNRD1 |
C0262584 | Carcinoma, Small Cell |
CYP2A6, PYCARD, BIRC5, SMARCA4, TP53 |
C0265220 | Pallister-Hall Syndrome |
GLI3 |
C0265326 | Bannayan-Riley-Ruvalcaba Syndrome |
PTEN |
C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma |
FLCN, FHIT, HNF1A |
C0280793 | Mixed Oligodendroglioma-Astrocytoma |
IDH2 |
C0281508 | Desmoplastic Small Round Cell Tumor |
EWSR1, WT1 |
C0282612 | Prostatic Intraepithelial Neoplasias |
CDKN1B, DNMT1, ESR1, ESR2, GSTP1, AR, MT2A, PTEN |
C0302592 | Cervix Carcinoma |
HLA-DPB2, EXOC1, TP53 |
C0334579 | Anaplastic Astrocytoma |
IDH2 |
C0334580 | Protoplasmic Astrocytoma |
IDH2 |
C0334581 | Gemistocytic Astrocytoma |
IDH2 |
C0334582 | Fibrillary Astrocytoma |
IDH2 |
C0334583 | Pilocytic Astrocytoma |
FGFR1, KRAS, NTRK2, RAF1 |
C0334588 | Giant Cell Glioblastoma |
TACC3, EGFR, FGFR1, IDH1, PPARG, TACC1, TP53 |
C0334590 | Anaplastic Oligodendroglioma |
POT1, IDH2 |
C0334634 | Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse |
CTNNB1, EIF4E, EIF4EBP1, AK1, GSK3B, PIK3CD, WNT3, ARHGAP29 |
C0343115 | Skin Mastocytoma |
KIT |
C0346010 | Multiple Fibrofolliculomas |
FLCN |
C0346302 | Growth Hormone-Secreting Pituitary Adenoma |
GH1, GNAS, PRL, SSTR5, AIP |
C0346647 | Malignant Neoplasm Of Pancreas |
DAB2, DPP6, NR5A2, FAM19A5, LINC-PINT, BACH1, BICD1, CLPTM1L |
C0349639 | Juvenile Myelomonocytic Leukemia |
SH2B3, EZH2, RRAS2, ARHGAP26, JAK3, KRAS, NRAS, PTPN11, RAC2, RRAS, RUNX1 |
C0376358 | Malignant Neoplasm Of Prostate |
PDLIM5, FOXP4, CTBP2, CTNNB1, DNAH12, EPHB2, MARCH8, CEP152, PHLPP2, TNRC6B, ZBTB38, UPF2, GRHL1, KLK3, SHROOM2, ITGA6, AR, MDM4, MXI1, MYO6, NEDD9, POLK, PEX14, BAIAP2L1, PTEN, THADA, EBF2, SLC22A3, BRCA2, TBX1, TP53, MLPH, TRIM8, ARMC2, FARP2 |
C0376545 | Hematologic Neoplasms |
HSPA5, PON1 |
C0391826 | Lhermitte-Duclos Disease |
PTEN |
C0392784 | Dermatofibrosarcoma Protuberans |
COL1A1, PDGFB |
C0393626 | Opsoclonus-Myoclonus Syndrome |
POMC |
C0406810 | Carney Complex |
PRKAR1A |
C0476089 | Endometrial Carcinoma |
FGFR2, MLH3, MSH6, KRAS, MSH3, MUTYH, PTEN |
C0546837 | Malignant Neoplasm Of Esophagus |
ADH1B, CSNK1A1, ALDH2, HECTD4, MUC1, PDE4D, HEATR3, PTPN2, ST6GAL1, TGFBR2, XBP1, RUNX1 |
C0549473 | Thyroid Carcinoma |
NRG1 |
C0553580 | Ewings Sarcoma |
EGR2, ETV1, EWSR1, CIZ1 |
C0553586 | Cafe-Au-Lait Macules With Pulmonary Stenosis |
MAP2K2 |
C0596263 | Carcinogenesis |
CUX1, ERBB2, KRAS |
C0677776 | Hereditary Breast And Ovarian Cancer Syndrome |
RAD50, MRE11A, NBN, PTEN, BARD1, RAD51, RAD51C, RAD51D, BRCA1, BRCA2, TP53 |
C0677866 | Brain Stem Neoplasms |
CDK4, CDK6 |
C0684337 | Ewings Sarcoma-Primitive Neuroectodermal Tumor (Pnet) |
KIT |
C0751291 | Desmoplastic Medulloblastoma |
SUFU |
C0751674 | Lymphangioleiomyomatosis |
HES1, TSC2 |
C0752160 | Hemangioma, Cavernous, Central Nervous System |
CCM2, KRIT1 |
C0887833 | Carcinoma, Pancreatic Ductal |
NDRG1, JAG1, AGTR1, HEY1, HES1, HSPA1A, HSPA1B, KRAS, NOTCH1, VEGFA |
C0917817 | Neurofibromatosis 3 |
NF2 |
C0919267 | Ovarian Neoplasm |
HDAC6, CDKN1B, TUBB3, DLC1, YAP1, SRSF10, POP4, CTNNB1, CYP1B1, GADD45A, DOK1, EGFR, ERBB2, EREG, AKT1, FASN, RRAS2, SULF1, FOLR1, ANXA3, XIAP, BIRC5, IL6, IL6ST, CXCL8, AQP3, AREG, KRAS, EPCAM, MET, MKI67, MLH1, MSH2, MYC, ATF3, PARK2, PIK3CA, BNC2, PPP1CC, MAPK1, MAPK3, KLK10, PRTFDC1, PTEN, RAD51C, RAD51D, SKP2, SLC2A1, SLC5A5, SMARCA4, SOD2, SPARC, BRCA1, BRCA2, STAT3, ZEB1, TLR4, TYMS, CAV1, URI1, TNFSF10, CCND2, SELENBP1 |
C0936248 | Chondroma |
IDH1, IDH2 |
C0950121 | Denys-Drash Syndrome |
WT1 |
C1134719 | Invasive Ductal Breast Carcinoma |
CLDN4, SMAD4, ATF4, SERPINB5, PTGS2, SOD2 |
C1140680 | Malignant Neoplasm Of Ovary |
CTNNB1, PIK3CA, BRCA1, BRCA2, MLLT10 |
C1176475 | Ductal Carcinoma |
HIF1A, SLC2A1, STAT5A |
C1260965 | Lipoblastoma |
PLAG1 |
C1261473 | Sarcoma |
GSTP1, MCL1, PIK3CA, MAML3, SMARCA4, TNF, TP53 |
C1266042 | Chromophobe Renal Cell Carcinoma |
FLCN, HNF1A |
C1301362 | Lymphoma, Primary Cutaneous Anaplastic Large Cell |
NPM1 |
C1306214 | Acth-Secreting Pituitary Adenoma |
GNAS, BMP4, AIP |
C1306837 | Papillary Renal Cell Carcinoma |
MITF |
C1321489 | Torre-Muir Syndrome |
MSH6, MLH1, MSH2 |
C1333990 | Hereditary Nonpolyposis Colorectal Cancer |
MLH3, MSH6, KRAS, EPCAM, MLH1, MSH2, PIK3CA, PMS1, RPS20, BMPR1A, TGFBR2, LRRFIP2 |
C1333991 | Hereditary Non-Polyposis Colon Cancer Type 2 |
MLH1 |
C1458155 | Mammary Neoplasms |
TANK, CDH5, OCLN, ADAM10, HNRNPR, CDKN1B, TUBB3, NDRG1, GPNMB, FST, NCOA2, CENPF, CFL1, HPSE, UBE2C, DEPP, CHEK1, CLIC1, COMT, PPARGC1B, CLDN4, CPT1A, PARP1, CSF1R, CTNNB1, CYP1A1, CYP1B1, CYP2D6, CYP3A4, CYP17A1, CYP19A1, DDIT3, DHFR, NQO1, DNMT1, DNMT3B, DPYD, JAG1, E2F1, EEF1B2, EEF2, EFNA1, EGFR, AHR, ELK3, ENO1, EP300, EPHB4, EPOR, ERBB2, ERBB3, AKT1, AKT2, ESR1, ESR2, ESRRA, ETS2, EZH2, FASN, EFEMP1, RNF182, ALDOA, FGFR1, FGFR2, DKK1, FOXM1, EPB41L3, FLNA, FN1, COTL1, HEY1, FOS, CADM1, SLC39A6, PHGDH, HEYL, CLUL1, TOX3, GNAI2, GPI, GPER1, GPX1, GPX4, MRPS28, CXCL2, GSTP1, HIST1H1C, H2AFX, HADHB, NRG1, HHEX, HIF1A, HMMR, HMOX1, HNRNPL, HP, HES1, HSPA1B, BIRC5, HSP90AA1, IGBP1, IGF1, IGF1R, IGFBP5, IGFBP7, APRT, IL1B, IL6, CXCL8, AR, EIF6, JUN, AREG, KIT, KRAS, KRT8, KRT18, STMN1, LDHB, LEP, LEPR, ARHGDIA, LOXL2, LSP1, MIR132, MAL, MDM2, MDM4, MEIS1, MFGE8, MIF, MKI67, MME, MMP1, MMP2, MMP9, MMP14, ABCC1, MT3, MTHFR, MTR, NQO2, NOS3, NOTCH1, NOTCH2, NRCAM, YBX1, SLC22A18, PAEP, ITSN2, FOXP3, EVL, PDGFA, PGR, PHB, SERPINB5, PIK3CA, PLA2G4A, DLL4, MAP2K7, KLK10, EMSY, PTEN, PTGS1, PTGS2, PTHLH, ARRDC3, PTPRD, BARD1, BAX, RAD51, RAD51C, RAF1, RB1, RBM3, LGR6, BCL2, RECQL, RELA, RGS2, RPL23A, RPL31, RPS6, RPS7, RPS8, RRAD, RXRB, CCL20, CXCL12, SFRP1, SFRP5, SHMT1, SIM1, BMP2, SLC2A1, SLC2A5, BMP4, SLC5A5, BMPR2, SNAI2, SOD2, SPP1, BRCA1, BRCA2, STAT3, STAT5A, AURKA, ZEB1, NR2F1, TFRC, TGM2, THBS1, C1QBP, TLE3, TNF, TOP2A, TP53, TYMS, UMPS, VDR, VEGFB, VEGFC, VIM, WHSC1, WT1, DAP3, FTO, TFPI2, CUL5, SLC2A10, NCOA3, NRIP1, HIST1H2BC, CASP8, BCAR3, RAD54L, RSPO3, HIST1H2BK, CAV1, STC2, NCOA1, TNFSF10, SYNJ2, ACVR1, PRC1, CLDN1, EXO1, REPS2, MTDH, THEMIS2, ADAMTS1, APOBEC3B, NCOR1, CD74, STARD8, MRPL19, RB1CC1, ZEB2, ZC3H11A, MED12 |
C1510502 | Oxyphilic Adenoma |
KRT7 |
C1522378 | Leukemia, Large Granular Lymphocytic |
STAT5B |
C1527249 | Colorectal Cancer |
POLD3, CTNNB1, GREM1, ZMIZ1-AS1 , LAMC1, COLCA1, SMAD7, LIMA1, PIK3CA, MYNN, SLC22A3, TCF7L2, TGFB1, MYRF, BICC1, CCND2 |
C1567257 | Granulosa Cell Cancer |
DICER1 |
C1708349 | Hereditary Diffuse Gastric Cancer |
CTNNA1 |
C1866398 | Proteus-Like Syndrome (Disorder) |
PTEN |
C1879526 | Aberrant Crypt Foci |
CTNNB1, GCG, APC |
C1955906 | Lymphoma, Extranodal Nk-T-Cell |
CFLAR |
C1959582 | Pten Hamartoma Tumor Syndrome |
PTEN |
C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
IL7R, LMO2, CNOT3, NOTCH1, PTPN2, BAX, RPL5, RPL10, TAL1, BCL10 |
C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma |
CDK6, IKZF1, CYP1B1, NQO1, EPHX1, P2RY8, HLF, IDH1, ARNT, MTHFR, PIP4K2A, PAG1, RB1, BCR, SLC19A1, TCF3, TP53, WHSC1, CASP8, ARID5B, RUNX1 |
C2239176 | Liver Carcinoma |
MICA, CDH13, CDKN1B, CDKN3, FST, ATP5H, CEBPB, CEBPD, UBD, HTATIP2, IQGAP2, ERP29, THEM4, JDP2, COMT, CRP, CTNNB1, CTSD, CYLD, CYP1A1, CYP2E1, CYP17A1, ACE, AKR1C2, DPYD, E2F1, EGFR, A2M, ENO1, EPHX1, ESR1, F2, FABP5, ACSL4, FASN, FBP1, FDFT1, FOXM1, KIF1B, FOS, GAPDH, SFN, PYCARD, PDIA3, GSTM1, GSTP1, ANXA4, HGF, HMGB2, HMGCR, APC, APCS, HSD3B2, HSPA5, HSPB1, BIRC5, APOA1, IDH1, IGBP1, IGF1R, IGF2, IGF2R, CYR61, IL6, CXCL8, IRS1, AR, JUN, KRAS, LETM1, MET, MMP2, MMP9, MPO, MT2A, MVK, MYC, NME1, ACO2, ACOX1, PCK1, PDGFB, PGD, PGK1, PHB, SERPINA1, PIK3CA, PKM, PPARG, PPP1R1A, PTGS2, PTK2, ARID1B, MTUS1, KMT2C, RAC1, RB1, ACTB, RPS6, RRM1, RRM2, SCD, CCL3, BID, CXCL12, HHIP, SKP2, SLC2A1, SLC5A5, SOD2, SREBF1, SREBF2, TALDO1, PRDX2, TGFA, TGFB1, TH, TP53, TYMS, UCHL1, UMPS, NR1H2, VCAM1, ZNF23, CA2, BTG2, TFPI2, CD276, ARID1A, AXIN1, TATDN1, TAGLN2, CASP8, NR0B2, IRS2, PNPT1, CBR1, TNFSF10, IQGAP1, CCNA1, SOCS3, USP2, SLIT2, ADAMTS1, GDF15, PRDX6, KMT2B, FGF19, NR1H4 |
C2607929 | Carney Complex, Type 1 |
PRKAR1A |
C2713442 | Polyposis, Adenomatous Intestinal |
APC |
C2919945 | Cavernous Hemangioma Of Brain |
KRIT1 |
C2931618 | Gestational Trophoblastic Disease |
POU5F1 |
C3489413 | Lipomatosis, Multiple |
HMGA2 |
C3658267 | Prostatic Neoplasms, Castration-Resistant |
AKR1C3 |
C3854181 | Nevus Sebaceous |
KRAS |