| UMLS CUI | UMLS Term |
Proteins |
C0206650 | Fibroadenoma |
MED12 |
C0206655 | Alveolar Rhabdomyosarcoma |
FOXO1 |
C0206656 | Rhabdomyosarcoma, Embryonal |
DMD, BUB1B |
C0206657 | Alveolar Soft Part Sarcoma |
ASPSCR1 |
C0206658 | Smooth Muscle Tumor |
NDRG1 |
C0206663 | Neuroectodermal Tumor, Primitive |
EWSR1, HEY1, HES1, NOTCH2, PON1, PTCH1 |
C0206669 | Hepatocellular Adenoma |
CDKN1B, CTNNB1, A2M |
C0206677 | Adenomatous Polyps |
APC |
C0206681 | Adenocarcinoma, Clear Cell |
BCL2, TP53 |
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 |
C0206762 | Limb Deformities, Congenital |
GPC6, COL11A2, HAPLN1, FGFR2, IRF6, MIR17HG, TGFB2, CACNA1C |
C0206769 | Nevi And Melanomas |
BAP1 |
C0220658 | Pfeiffer Syndrome |
FGFR1, FGFR2 |
C0220704 | Shprintzen Syndrome |
COMT, GP1BB, TBX1, HIRA, UFD1L |
C0220756 | Niemann-Pick Disease, Type C |
LIPA, NPC1 |
C0220994 | Hyperammonemia |
TYMS |
C0221002 | Hyperparathyroidism, Primary |
PTH |
C0221013 | Mastocytosis, Systemic |
HMOX1, KIT |
C0221043 | Liddle Syndrome |
SCNN1A, SCNN1G |
C0221054 | Welander Distal Myopathy |
TIA1 |
C0221060 | Mobius Syndrome |
PLXND1, REV3L |
C0221204 | Lytic Lesion |
ANTXR2, TNFRSF11B, PTHLH, SPP1, TNF, TNFSF11 |
C0221263 | Cafe-Au-Lait Spots |
SPRED1, GNAS |
C0221355 | Macrocephaly |
CHD8 |
C0221357 | Brachydactyly |
GNAS, SMAD4, HDAC4 |
C0221406 | Pituitary-Dependent Cushing'S Disease |
GNAI2, GNAS, POMC, PPARG, AIP |
C0221757 | Alpha 1-Antitrypsin Deficiency |
SERPINA1 |
C0231341 | Premature Aging Syndrome |
APP, KL |
C0232347 | No-Reflow Phenomenon |
CDH5, CTNNB1, JUP |
C0232910 | Teratogenesis |
SOX17 |
C0234162 | Cerebellar Dysmetria |
SETX |
C0234985 | Mental Deterioration |
TOMM40, SLCO6A1, APOC1, APOE |
C0235032 | Neurotoxicity Syndromes |
ADD3, ADRA1B, CYP3A5, NQO1, FOS, PLAT, PON1, PRKCD, SRSF5, TIMP3, CRISPLD2, CCK |
C0235752 | Port-Wine Stain |
GNAQ, RASA1 |
C0235833 | Congenital Diaphragmatic Hernia |
CTGF, ZFPM2, GATA4, GATA6, IGF1R, IGF2R, INSR, WT1 |
C0236642 | Pick Disease Of The Brain |
MAPT, PSEN1 |
C0236733 | Amphetamine-Related Disorders |
CDH13, COMT, SGCZ, CYP2D6, LINGO2, CD55, DRD2, EPHX1, AKT1, FHIT, ZNF423, ACSL6, PSD3, FOS, PCOLCE2, GSTM1, GSTP1, GSTT1, NRG1, AOAH, MYO5B, NPY1R, SERPINA5, PDE4D, PLAT, POU5F1, MAP2K5, RELA, BDNF, CSMD1, SMYD3, MARC1, SNCA, PRDM2, USP48, LARGE |
C0236736 | Cocaine-Related Disorders |
HDAC5, GPHN, SIGMAR1, EHMT2, CNR1, COMT, CREB1, DRD2, EGR1, ESR2, FDFT1, FGF2, ARC, FOS, FOSB, APOL2, GABBR1, GPSM1, AGO2, NR3C1, ILK, JUND, NGF, NPY2R, NTRK2, KLHL5, GHRL, POMC, TENM3, MAPK1, MAPK3, PRL, BDNF, SLC1A2, SNCA, ICE2, MANEA, CALM2, COL21A1, CCKBR, RPS6KA5, HOMER1, SCARB1, CARTPT, HDAC4 |
C0236811 | Chronobiology Disorders |
SGOL1, AHR, PPARG |
C0236964 | Attention Deficit And Disruptive Behavior Disorders |
S100B |
C0236969 | Substance-Related Disorders |
CDH13, FARP1, INADL, ABCC4, CFTR, CHRM2, CHRNA5, XKR4, CNR1, MACROD2, CYP2D6, DRD2, FHIT, LIMCH1, SAMD4A, CERS6, GRIA4, NME7, INSR, AFF3, ABLIM1, MYO6, ATP1B1, NRCAM, PBX1, POLR1D, SLC45A2, PMAIP1, APPL2, CCDC91, FRMD4A, WDR11, PARVA, CSMD1, SLC22A3, FAM184A, THSD4, SEMA6D, CSRNP3, ZNF606, COLEC12, C10orf11, BCAR3, MKNK1, ZNF804A, AKAP7, CXCL14, CHD1L, SLK |
C0237873 | Physiological Sexual Disorders |
PRL, PTGER2, PTGER4 |
C0238065 | Biliary Cirrhosis, Secondary |
MERTK |
C0238111 | Lennox-Gastaut Syndrome |
CHD2 |
C0238190 | Inclusion Body Myositis (Disorder) |
GNE |
C0238198 | Gastrointestinal Stromal Tumors |
DMD, KIT, MTHFR, PDGFRA, SDHA, SDHB, SDHC |
C0238288 | Muscular Dystrophy, Facioscapulohumeral |
CDKN1A, COL3A1, DCN, ACAN, SMCHD1, GSTT2, HSPA1B, HSPA4, LUM |
C0238402 | Pycnodysostosis |
CTSK |
C0238461 | Anaplastic Thyroid Carcinoma |
SOD2, TP53 |
C0239981 | Hypoalbuminemia |
ALB, IL6, TNFRSF1B |
C0241910 | Hepatitis, Autoimmune |
CXCL1, IL6, IL10, IL18, LEP, CCL2, CCL5, TGFB1, C1S |
C0242216 | Biliary Calculi |
GNAS, HMGCR, ABCG8, CCK |
C0242287 | Isaacs Syndrome |
HINT1 |
C0242292 | Mccune-Albright Syndrome |
GNAS |
C0242339 | Dyslipidemias |
AHR, HP, APOB, LDLR, LEPR, LPL, PPARA, PPARG, TMEM57, DNAH11, VNN1 |
C0242341 | Sexual Infantilism |
CYP19A1 |
C0242350 | Erectile Dysfunction |
EDN1, EDNRA, NOS3, PRL, BCL2, SHBG, VEGFA |
C0242379 | Malignant Neoplasm Of Lung |
KLC3, ERCC2, ACTA2, BRCA2, CLPTM1L |
C0242383 | Age Related Macular Degeneration |
TOMM40, COL10A1, CFH, APOC1, CFI, APOE, HTRA1, RPGR, CFB, TGFBR1, TLR4, TNXB, C3, VEGFA, PLA2G12A, SQSTM1 |
C0242387 | Mandibulofacial Dysostosis |
POLR1D, TCOF1, POLR1C |
C0242422 | Parkinsonian Disorders |
PARP1, DCTN1, DRD2, ALDH1A1, GSR, MAPT, NGF, PARK2, POLG, PRKCD, PRL, PINK1, SLC18A2, SNCA, TH, PRKRA, ALDH1A2 |
C0242488 | Acute Lung Injury |
EDN1, APOA1, ICAM1, FAS, ASCL1, MYLK, PPARG, TGFB1, TXN, ACVR1, IL1RL1 |
C0242528 | Azotemia |
GH1 |
C0242597 | Leukocyte-Adhesion Deficiency Syndrome |
ITGB2 |
C0242647 | Mucosa-Associated Lymphoid Tissue Lymphoma |
BCL10 |
C0242656 | Disease Progression |
CDH2, ABCF2, CNPY2, NOP56, PRDX4, CCT7, TXNIP, CTSC, CGA, CLCN3, CLN3, CSTA, CTSB, CYP2A6, EGFR, ERBB2, ERBB3, ESR1, FGF2, FKBP2, ABCF1, KDM1A, FAM168A, BOP1, SERBP1, AMFR, SNX5, PRPF19, MRPS18B, GSTP1, CPSF1, HNRNPL, IDH3B, KLK3, MMP2, ABCC1, MYC, NDUFA2, NDUFS1, ALDH7A1, PA2G4, ZNF593, C11orf73, PDHA1, POLR3K, PHB, PPP2R1A, PPP2R4, PREP, CARKD, PTEN, RANBP10, PTPRF, ABCD4, RAD23A, BCL2, RPL13, RPL15, RPL18, RPS6, RPS21, RPS26, RRM1, RXRB, SNRPB, SOD2, SOD3, SREBF2, ZEB1, TOP2A, VEGFB, YY1, TAF15, SYMPK, ARFGAP2, PLPP1, SUCLG1, TMEM63A, ZEB2 |
C0242698 | Ventricular Dysfunction, Left |
ADRB2, FAS, IL6, INS, NPPB, ATP2A2, PLN, ITLN1, SOD2 |
C0242706 | Hyperoxia |
CYP1A1, AHR |
C0242707 | Ventricular Dysfunction, Right |
NPPB |
C0242788 | Breast Neoplasms, Male |
TOX3, AR |
C0242852 | Proliferative Vitreoretinopathy |
LRP5, CAPN5 |
C0242973 | Ventricular Dysfunction |
ADORA1, ADRB1, DMD, ALDH2, GAA, TNF |
C0242992 | Multiple Chemical Sensitivity |
SOD2 |
C0243026 | Sepsis |
ADM, ANGPT1, HMGB1, CXCR2, IL10, MIF, MMP9, NOS3, MAPK1, MAPK3, TGFB1, TLR4, TNF |
C0243038 | Carcinoma, Lewis Lung |
TXNRD1 |
C0243050 | Cardiovascular Abnormalities |
EDN1 |
C0243057 | Stomatognathic System Abnormalities |
RUNX2 |
C0259771 | Steatocystoma Multiplex |
KRT17 |
C0260662 | Hearing Problem |
NIPBL |
C0262584 | Carcinoma, Small Cell |
CYP2A6, PYCARD, BIRC5, SMARCA4, TP53 |
C0263454 | Chloracne |
CDK6, CDKN1B, CREM, GADD45A, EGFR, FRMD3, GSTM1, GSTM3, HBA1, HBB, HBG1, ITGB2, KRT17, SERPINB9, CYCS, PTGER4, BTG2, AHNAK, ANKRD55, EPPK1, RAB11A, CD28 |
C0264423 | Asthma, Occupational |
CDH17, TENM3 |
C0264939 | Systemic Vasculitis |
HMGB1 |
C0265219 | Miller Dieker Syndrome |
YWHAE |
C0265220 | Pallister-Hall Syndrome |
GLI3 |