Search Diseases

Diseases

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