Search Diseases

Diseases

UMLS CUI UMLS Term Proteins

C0086439

Hypokinesia

APOD, OPRL1

C0149721

Left Ventricular Hypertrophy

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

C0150055

Chronic Pain

SCN9A

C0151636

Premature Ventricular Contractions

NOS3

C0151699

Intracranial Hemorrhages

PLAT, PLAU

C0151786

Muscle Weakness

DSCR3, CCT8, ADAMTS5, CYYR1, RCAN1, ETS2, MORC3, GABPA, C2CD2, GART, N6AMT1, DONSON, IFNAR1, IFNAR2, IFNGR2, APP, IL10RB, MIR155, NCAM2, PMP22, ATP5O, BRWD1, MIS18A, CLIC6, MRAP, MAP3K7CL, BACH1, SCAF4, JAM2, PRDM15, SH3BGR, ITSN1, SIM2, SLC5A3, SON, TIAM1, TTC3, TTN, WRB, TMEM50B, CHAF1B, RUNX1, PSMG1, CBR1, SYNJ1, PAXBP1, MYOT, ADAMTS1, CRYZL1

C0151827

Eye Pain

POMC

C0152020

Gastroparesis

HMOX1

C0152200

Achromatopsia

ATF6, RPGR

C0155017

Color Blindness, Blue

OPN1SW

C0162311

Androgenetic Alopecia

HDAC9

C0162674

Chronic Progressive External Ophthalmoplegia

IL1A, IL1B, POLG, SOD2

C0162770

Right Ventricular Hypertrophy

TGFA

C0206146

Myocardial Stunning

ATP2A2, PLN, TNF

C0206160

Reticulocytosis

SOD2

C0220994

Hyperammonemia

TYMS

C0221263

Cafe-Au-Lait Spots

SPRED1, GNAS

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

C0235833

Congenital Diaphragmatic Hernia

CTGF, ZFPM2, GATA4, GATA6, IGF1R, IGF2R, INSR, WT1

C0242216

Biliary Calculi

GNAS, HMGCR, ABCG8, CCK

C0242528

Azotemia

GH1

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

C0242706

Hyperoxia

CYP1A1, AHR

C0243026

Sepsis

ADM, ANGPT1, HMGB1, CXCR2, IL10, MIF, MMP9, NOS3, MAPK1, MAPK3, TGFB1, TLR4, TNF

C0260662

Hearing Problem

NIPBL

C0278076

Behavioral Tic

SNAP25

C0282513

Primary Progressive Aphasia (Disorder)

GRN

C0282631

Facies

CCBE1, JAG1, FMR1, AFF4

C0333463

Senile Plaques

GALNT7

C0333641

Atrophic

CLU, AHR, IL1RN, CLN6, MAPK3, STAT3

C0334121

Inflammatory Myofibroblastic Tumor

RANBP2, TPM3, TPM4

C0340288

Stable Angina

MMP9, TLR4, TNF

C0349464

Wernicke-Korsakoff Syndrome

TKT

C0376618

Endotoxemia

ALOX5, HSPD1, SOD2

C0376628

Chromosome Breakage

H2AFX, MYC, BRCA1

C0393584

Benign Hereditary Chorea

NKX2-1

C0410916

Neonatal Death

FBN2, SPDL1, FAM20C, POMGNT2

C0424295

Hyperactive Behavior

DRD2, FOS, GABBR1, GCG, GIT1, HTR2C, NGF, NTRK2, NTS, TH, CCK

C0428977

Bradycardia

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

C0455988

Hydrops Fetalis, Non-Immune

DNAH14, HBA1, NEU1, GALNT14, FZD6

C0476254

Dyslexia

DCDC2

C0497406

Overweight

LEPR

C0520757

Delayed Emergence From Anesthesia

ZFAND6

C0521607

Peritoneal Fibrosis

TGFB1

C0522224

Paralysed

APP, INS, TRPM7

C0525041

Neurobehavioral Manifestations

CHRNA7, FKBP5, NGF

C0549567

Pigmentation Disorders

MITF, MPV17

C0596263

Carcinogenesis

CUX1, ERBB2, KRAS

C0600467

Neurogenic Inflammation

CIRBP, APP, MCAM, NGF, POMC, PTGS2, TNF

C0600518

Choroidal Neovascularization

VEGFA

C0600519

Ventricular Remodeling

ADRA1A, SMAD2, SMAD3, TGFB1

C0740394

Hyperuricemia

ALDH16A1

C0750927

Apraxia, Developmental Verbal

FOXP2

C0751706

Primary Progressive Nonfluent Aphasia

GRN, MAPT, PSEN1, VCP

C0751830

Gait Disorders, Neurologic

TTC19

C0752252

Neuromuscular Manifestations

SNAP25, TPI1

C0752351

Embryo Loss

SLC31A1, GPX4, LIF, LCMT1

C0872084

Sarcopenia

SUPV3L1

C0877015

Pelvic Organ Prolapse

LAMC1

C0877172

Hematoma, Epidural, Spinal

PLAT

C0878773

Overactive Bladder

EDN1, NGF

C0920269

Microsatellite Instability

MSH6, HDAC2, MIR155, MIR21, MSH3, MTHFR, BAX, TGFBR2, ARID1A, ACVR2A

C1257806

Chromosomal Instability

KIF11, PPP2R5C

C1262477

Weight Decreased

TSC22D3, IL10, INS, LIF, POMC, CLN6, ADIPOQ

C1306503

Congenital Exomphalos

CHRNA7, PCSK5

C1383860

Cardiac Hypertrophy

COL17A1, RAF1

C1384666

Hearing Impairment

IQGAP2, TMEM200A, CPN1, CCBE1, DNMT1, ZNF25, NLGN1, MSRB3, SUMF1, SH3PXD2B, ZFP69, APOE, HEG1, RPGR, THADA, CSMD1, TLR4, UQCRH, ACVR1B, SLC33A1, TJP2

C1449861

Micronuclei, Chromosome-Defective

RASSF1, CYP1A1, CYP2E1, EPHX1, ERCC4, GSTM1, GSTT1, HIF1A, PPP2R5C, XPA, XPC

C1456865

Ureteral Calculi

GSR, GSTP1

C1568248

Usher Syndrome, Type Iii

HARS

C1619692

Nephrogenic Fibrosing Dermopathy

COL1A1, ACTA2, CCL8

C1720824

Sudden Cardiac Arrest

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

C2936349

Plaque, Amyloid

APP, MAOB

C2936350

Plaque, Atherosclerotic

PARP1, APOE, BSG

C2936380

Neointima

AGT, MMP2, MMP9

C2937358

Cerebral Hemorrhage

ACE, HMOX1, ITGAV, ITGB3, MMP2, MMP9, SERPINC1, NPPB, PLAT, PLAU, POMC, BAX, BCL2, S100B, SPP1, VEGFA, CASP8

C3203358

Hypoventilation

DCTN1

C3714756

Intellectual Disability

FRY, CHL1, ASCC3, CAPN10, ERLIN2, MAN1B1, C12orf57, ZNF526, RAB39B, SLC31A1, PTCHD1, PARP1, CCBE1, ADRA2B, DYNC1H1, EEF1B2, FASN, FGFR2, FOXG1, CIC, FMR1, FOLR1, GNAS, WDR62, HEXA, APC, NDST1, INPP4A, LETM1, MEF2C, ASCL1, NAGLU, SCAPER, LARP7, PMM2, TMCO1, AHI1, GON4L, LINS1, BBS7, RABL6, POLR3B, INPP5E, PTEN, RALGDS, KDM5A, RGS7, BDNF, SC5D, TMEM135, SLC2A1, TH, VRK1, YY1, CA8, COL18A1, DOCK8, MFSD2A, PRKRA, SYNGAP1, CCNA2, CACNA1G, NRXN1, HDAC4, ZBTB40

C4042891

Sleep Wake Disorders

HTR7, IL1B, POMC

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