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Diseases

UMLS CUI UMLS Term Proteins

C0037052

Sick Sinus Syndrome

POMC

C0037188

Sinoatrial Block

LMNA

C0037198

Sinus Thrombosis, Intracranial

F2, MTHFR

C0038454

Cerebrovascular Accident

ACE, EDN1, ALB, F2, F5, ALDH2, APOA1, ICAM1, IL1B, IL1RN, IL6, IRF1, ITGAV, ITGB3, MTHFR, ZFHX3, PDE4D, PLAT, PLAU, PRKAA2, PTGS2, TGFB1, TNF, TWIST1, UCP2, VKORC1, PLA2G7, HDAC9

C0038505

Sturge-Weber Syndrome

GNAQ, RASA1

C0038525

Subarachnoid Hemorrhage

ADORA1, EDN1

C0038833

Superior Vena Cava Syndrome

PTHLH

C0039231

Tachycardia

VAV3, DRD2, AHR, GCG, GNAS, GNRH1, INS, LEP, LHB, GAL, RYR2, SCT, TNF, TRH

C0039239

Sinus Tachycardia

GCG

C0039263

Takayasu Arteritis

HLA-B, MLX

C0039445

Hereditary Hemorrhagic Telangiectasia

SMAD4

C0039483

Giant Cell Arteritis

PTPN22

C0039685

Tetralogy Of Fallot

CITED2, JAG1, FOXC1, ZFPM2, GATA4, GATA6, GJA5, TBX1, NRP1

C0040038

Thromboembolism

MERTK, F2, F5, GAS6, JAK2, PLAT, PLAU

C0040053

Thrombosis

MERTK, CRP, CYP3A5, AGT, F2, F5, FCGR2A, FGA, FUT4, GAS6, HGF, HMOX1, SERPINC1, SERPINE1, PDE3A, PF4, PLAT, PLAU, PTGER3, PTGS2, TNF, TYRO3, VWF

C0040479

Torsades De Pointes

CYP3A4, ANK2, KCNH2

C0041207

Truncus Arteriosus, Persistent

SEMA3C, GATA6

C0041408

Turner Syndrome

GH1, SOD2

C0041409

Turner Syndrome, Male

PTPN11

C0042345

Varicosity

TNC, MGP, TIMP1

C0042373

Vascular Diseases

MYL9, AHR, ALDH2, GCG, HGF, MTHFR, MYLK, PKD2, SOD2, TIMP1, TNF, VKORC1

C0042384

Vasculitis

SERPINA1

C0042487

Venous Thrombosis

F2, F5, F8, F13A1, F13B, JAK2, MTHFR, SERPINC1, PLAT, PLAU, PLG, TFPI

C0042510

Ventricular Fibrillation

DSP, INS, PLAU

C0042512

Ventricular Outflow Obstruction

INS

C0042514

Tachycardia, Ventricular

LMNA, NOS3, NPPB, RYR2

C0043019

Lateral Medullary Syndrome

FSHB

C0085096

Peripheral Vascular Diseases

CYP1A1

C0085128

Cardiac Output, High

NPPB

C0085220

Cerebral Amyloid Angiopathy

APOE, APP

C0085280

Alagille Syndrome

JAG1, NOTCH2

C0085298

Sudden Cardiac Death

DSP, KCNH2, LMNA, TMEM43

C0085307

Embolism And Thrombosis

PLAT

C0149649

Cholesterol Embolism

PLAT, PLAU

C0149721

Left Ventricular Hypertrophy

CKB, COL1A1, COL3A1, ADRB3, ACE, AGT, HBEGF, AGTR2, EDN1, AHR, FN1, GAA, MYC, PPP3CA, STK11, GDF15

C0151636

Premature Ventricular Contractions

NOS3

C0151699

Intracranial Hemorrhages

PLAT, PLAU

C0151744

Myocardial Ischemia

CDH2, CEBPD, PDLIM5, CTSC, RALBP1, TMED2, CIRBP, MAP3K8, COX5B, CPT1B, CRP, MAPK14, ADRB1, ADRB2, DCN, AES, DLAT, AGT, DUSP1, DUSP6, EDN1, EGR2, RAB12, ENSA, AK1, F2RL1, FABP5, FGF2, ALDOA, MAPRE1, CES3, GATM, GBP2, GHR, GK, GCLC, GNA12, RGCC, CXCL2, GSTA1, GSTM2, GSTP1, HGF, HIVEP2, HK1, HMGB1, HMOX1, NR4A1, HSPA1A, APLP2, ICAM1, ID1, ID3, IFNGR1, IGF1, IGFBP3, IL1A, IL1B, IL6, IL6ST, IRF1, JAK2, JUNB, AREG, ARNTL, KITLG, ALDH6A1, NOS3, P4HB, PEBP1, PDHA1, PDK4, PFKFB3, PGM1, PLA2G2A, POMC, PPAT, PPM1B, PSMB5, PYGB, RAB5A, ACTB, GAS5, RPL17, RYR2, CCL2, CCL3, CCL4, SELE, SLC6A6, SOD2, SPARC, STAT5A, ZEB1, TFRC, TMPO, TNF, TXNRD1, UGCG, UQCRFS1, VCAM1, VEGFA, ZFP36, TUBA1A, RAB7A, CALR, CAMK2D, RAB1B, CANX, BHLHE40, SNAP23, CCND2, SOCS3, KLF4, ADIPOQ, CD36, GDF15, PRDX6

C0152101

Hypoplastic Left Heart Syndrome

GJA1

C0154832

Exudative Retinopathy

CRB1, NDP

C0162671

Melas Syndrome

IL1A, IL1B, NDUFS1, SOD2

C0162770

Right Ventricular Hypertrophy

TGFA

C0162871

Aortic Aneurysm, Abdominal

AGT, AGTR1, LDLR, MMP9, MMP14, PTGS2, SOD2

C0162872

Aortic Aneurysm, Thoracic

FBN1, MMP2, MMP9, ACTA2, TGFB2, TGFBR2

C0175702

Williams Syndrome

DLG4, TBL2, GTF2I, RFC2, CLIP2, BAZ1B

C0175704

Leopard Syndrome

PTEN, PTPN11, RAF1

C0206064

Microvascular Angina

MTHFR

C0206146

Myocardial Stunning

ATP2A2, PLN, TNF

C0220704

Shprintzen Syndrome

COMT, GP1BB, TBX1, HIRA, UFD1L

C0232347

No-Reflow Phenomenon

CDH5, CTNNB1, JUP

C0242698

Ventricular Dysfunction, Left

ADRB2, FAS, IL6, INS, NPPB, ATP2A2, PLN, ITLN1, SOD2

C0242707

Ventricular Dysfunction, Right

NPPB

C0242973

Ventricular Dysfunction

ADORA1, ADRB1, DMD, ALDH2, GAA, TNF

C0243050

Cardiovascular Abnormalities

EDN1

C0264939

Systemic Vasculitis

HMGB1

C0266642

Situs Ambiguus

ACVR2B

C0268338

Ehlers-Danlos Syndrome, Type Iv

COL3A1, COL5A1

C0268393

Familial Cerebral Amyloid Angiopathy

CST3

C0268394

Hereditary Cerebral Amyloid Angiopathy, Dutch Type

APP

C0338575

Sagittal Sinus Thrombosis

F5, PLAU

C0340288

Stable Angina

MMP9, TLR4, TNF

C0340375

Subaortic Stenosis

POMC

C0344724

Ostium Secundum Atrial Septal Defect

CITED2, GATA4, GATA6, ACTC1

C0349788

Arrhythmogenic Right Ventricular Dysplasia

DSC2, DSG2, DSP, KCNH2, LMNA, PKP2, TMEM43

C0406810

Carney Complex

PRKAR1A

C0428977

Bradycardia

NISCH, CHRM2, ADORA1, CYP2D6, DRD2, AGT, EDN1, EDN2, GCG, GNAI2, GNRH1, KNG1, LHB, NTS, POMC, PRL, TRH

C0553980

Endomyocardial Fibrosis

COL3A1, ADRB1, AGT, TGFB1

C0740392

Infarction, Middle Cerebral Artery

ADORA1, EDN1, FOS, ALOX5, CXCL2, HSPD1, ICAM1, IL6, IL6ST, JUNB, MMP9, ATF3, NGF, PLAT, PLAU, PLD1, CCL2, SOD2, STAT3, TNFAIP6, C3, XDH, SERPINH1

C0751895

Vasospasm, Intracranial

PLAT, S100A4, S100A6, S100B

C0751955

Brain Infarction

CYBB, FGF2, PLAT

C0752143

Intracranial Thrombosis

SERPINC1, PLAT, VWF

C0752160

Hemangioma, Cavernous, Central Nervous System

CCM2, KRIT1

C0752308

Hypoxia-Ischemia, Brain

HIF1A, IRAK1, VEGFA

C0795907

Conotruncal Anomaly Face Syndrome

COMT, GP1BB, TBX1, HIRA, UFD1L

C0852036

Pregnancy Associated Hypertension

HP, NOS3

C0853897

Diabetic Cardiomyopathies

AGTR2, SLC25A4, APOA1, IGF1, INS, ATP2A2, RYR2, SPP1, TNF

C0856761

Budd-Chiari Syndrome

F5, JAK2

C0878544

Cardiomyopathies

PARP1, MAPK14, ADRB2, CYP2C9, DMD, DSC2, DSG2, AGT, DSP, EDN1, EMD, AKT1, ANKRD1, HGF, HSPD1, HSPE1, FAS, IL1A, IL1B, IL6, AQP2, ITGB1, LAMP2, LDHA, LMNA, LPL, MAP3K5, ATF3, NDUFS2, NDUFV2, NPPB, OLR1, POMC, PPARD, PPP1R1A, AVPR2, PRKAA2, MAPK1, MAPK3, RHOJ, PTGS2, EPG5, RYR2, SGCB, SGCD, SOD2, STAT3, TLR2, TNF, TNNI3, TPM1, YWHAH, TMEM43, CBR1, ACTN2, NEXN, MYOT

C0878677

Glycogen Storage Disease Type Iib

LAMP2

C0948089

Acute Coronary Syndrome

CKB, CRP, ENO1, GAPDH, PDIA3, GSTP1, HSPD1, ITGB3, LDHB, ARHGDIB, MMP9, SERPINC1, PAPPA, PON1, PSMB1, SOD2, TLR4, ACTG1, TNF, TNNI3, TPM4, VIM, TUBB1, CAPZB

C0948480

Coronary Restenosis

ACE, MTHFR, TNF, ADIPOQ

C0949658

Cardiomyopathy, Hypertrophic, Familial

CRYAB, DES, DSG2, ANKRD1, LAMP2, TNNI3, TPM1, ACTN2, NEXN

C1142166

Brugada Syndrome (Disorder)

TRPM4, CACNA1C, CACNA2D1, SLMAP

C1383860

Cardiac Hypertrophy

COL17A1, RAF1

C1449563

Cardiomyopathy, Familial Idiopathic

LMNA

C1527338

Hereditary Cerebral Amyloid Angiopathy, Icelandic Type

CST3

C1704436

Peripheral Arterial Diseases

OSBPL10

C1720824

Sudden Cardiac Arrest

ZNF385B, ESR1, ARL5B, KCTD1, ATF1, MAML2, AP1G2

C1836635

Loeys-Dietz Aortic Aneurysm Syndrome

TGFBR1

C1857761

Alagille Syndrome 2

NOTCH2

C1861172

Venous Thromboembolism

NEBL, PROCR, AK4, F2, F5, EFEMP1, FGA, FGF14, FGG, ZFPM2, NME7, SERPINC1, PLAT, BRWD1, SLC44A2, TNF, YEATS4, RAB11FIP3

C1862892

Hereditary Angioedema Type Ii

SERPING1

C1956125

Alagille Syndrome 1

JAG1

C1956346

Coronary Artery Disease

SH2B3, TRIB1, CDKN2B, ADAMTS7, APOA5, CRP, ACE, ESR1, ESR2, ANKS1A, DDAH2, PCSK9, GNB3, HECTD4, HMOX1, APCS, APOC3, IRAK1, IRS1, LDLR, LIPA, LPL, NOS3, NPPB, ATP2B1, PAPPA, PON1, CNNM2, WDR12, PTGS2, CCL2, CXCL12, ABCG8, SLC22A3, SMARCA4, TCF21, TLR4, VEGFA, PDGFD, PLPP3, KL, GDF15, CD40LG

C1956391

Temporal Arteritis

PTPN22

C2607929

Carney Complex, Type 1

PRKAR1A

C2697932

Loeys-Dietz Syndrome

SMAD3, TGFB2, TGFBR1, TGFBR2

C2717905

Hereditary Angioedema Types I And Ii

SERPING1, C1S

C2717906

Hereditary Angioedema Type I

SERPING1

C2919945

Cavernous Hemangioma Of Brain

KRIT1

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