| 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 |