| UMLS CUI | UMLS Term |
Proteins |
C0339510 | Vitelliform Macular Dystrophy |
BEST1 |
C0339527 | Leber Congenital Amaurosis |
CRB1, GUCY2D, SPATA7 |
C0340288 | Stable Angina |
MMP9, TLR4, TNF |
C0340375 | Subaortic Stenosis |
POMC |
C0340543 | Familial Primary Pulmonary Hypertension |
HDAC5, HDAC1, HDAC4 |
C0341106 | Eosinophilic Esophagitis |
RRP1B, EMSY, SHROOM3, CCDC81, TIMP2, CAPN5, ANKRD27, PLPP3 |
C0342185 | Hyperthyroxinemia, Familial Dysalbuminemic |
ALB |
C0342257 | Complications Of Diabetes Mellitus |
ALDH2, AKR1B1, HIF1A, HP, VEGFA |
C0342488 | Mineralocorticoid Excess Syndrome, Apparent |
HSD11B2 |
C0342649 | Vascular Calcification |
MGP |
C0342731 | Deficiency Of Mevalonate Kinase |
MVK |
C0342853 | Sialuria |
GNE |
C0343115 | Skin Mastocytoma |
KIT |
C0343755 | HIV Wasting Syndrome |
IL1A, IL1B, IL6, TNF |
C0344724 | Ostium Secundum Atrial Septal Defect |
CITED2, GATA4, GATA6, ACTC1 |
C0345408 | Hereditary Clubbing |
HPGD |
C0346010 | Multiple Fibrofolliculomas |
FLCN |
C0346302 | Growth Hormone-Secreting Pituitary Adenoma |
GH1, GNAS, PRL, SSTR5, AIP |
C0346647 | Malignant Neoplasm Of Pancreas |
DAB2, DPP6, NR5A2, FAM19A5, LINC-PINT, BACH1, BICD1, CLPTM1L |
C0349231 | Phobic Anxiety Disorder |
PRL |
C0349464 | Wernicke-Korsakoff Syndrome |
TKT |
C0349639 | Juvenile Myelomonocytic Leukemia |
SH2B3, EZH2, RRAS2, ARHGAP26, JAK3, KRAS, NRAS, PTPN11, RAC2, RRAS, RUNX1 |
C0349788 | Arrhythmogenic Right Ventricular Dysplasia |
DSC2, DSG2, DSP, KCNH2, LMNA, PKP2, TMEM43 |
C0376300 | Dengue Shock Syndrome |
MICB, RBFOX1 |
C0376358 | Malignant Neoplasm Of Prostate |
PDLIM5, FOXP4, CTBP2, CTNNB1, DNAH12, EPHB2, MARCH8, CEP152, PHLPP2, TNRC6B, ZBTB38, UPF2, GRHL1, KLK3, SHROOM2, ITGA6, AR, MDM4, MXI1, MYO6, NEDD9, POLK, PEX14, BAIAP2L1, PTEN, THADA, EBF2, SLC22A3, BRCA2, TBX1, TP53, MLPH, TRIM8, ARMC2, FARP2 |
C0376532 | Epilepsy, Rolandic |
GRIN2A |
C0376545 | Hematologic Neoplasms |
HSPA5, PON1 |
C0376618 | Endotoxemia |
ALOX5, HSPD1, SOD2 |
C0376628 | Chromosome Breakage |
H2AFX, MYC, BRCA1 |
C0376634 | Craniofacial Abnormalities |
GPC6, ATP6AP2, DCAF7, SPRY2, KIF3A, RAB39B, COL11A1, COL11A2, HAPLN1, CSNK1A1, CTNNB1, CNTN4, DLX2, DLX5, DNMT3B, RCAN1, SLC26A2, ECE1, EDN1, EDNRA, EGFR, ERF, ETS2, GPC4, FGFR1, FGFR2, SLC35D1, FMR1, FOLR1, NIPBL, SALL3, GNAQ, GP1BB, SH3PXD2B, FAM83H, SEC61A1, ANXA1, HOXA1, HOXA3, HSPG2, NDST1, IRF6, LETM1, LMNA, LRP2, LTBP3, SMAD2, SMAD3, SMAD4, MMP2, MNT, TRIM37, NOTCH1, PDGFRA, PITX2, TMCO1, ATRX, BNC2, ANKH, PTCH1, PTEN, RAD23B, ACTB, SIM2, SKI, BMPR1A, SOX9, TBX1, TCF4, TCOF1, TGFB2, TGFBR2, ACTG1, TRPS1, UFD1L, UXS1, FZD4, PRKRA, RUNX2, FADD, ITGB1BP1, NRXN1, FOXP2 |
C0376670 | Pancreatitis, Alcoholic |
PTHLH |
C0391826 | Lhermitte-Duclos Disease |
PTEN |
C0392514 | Hereditary Hemochromatosis |
HFE, HAMP, TFR2 |
C0392525 | Nephrolithiasis |
DGKH |
C0392622 | Toxic Effect Of Carbon Tetrachloride |
GFER |
C0392784 | Dermatofibrosarcoma Protuberans |
COL1A1, PDGFB |
C0393540 | Childhood Progressive Bulbar Palsy |
SLC52A3 |
C0393547 | Bulbospinal Neuronopathy |
AR |
C0393584 | Benign Hereditary Chorea |
NKX2-1 |
C0393593 | Dystonia Disorders |
TOR1A, THAP1, PRKRA |
C0393626 | Opsoclonus-Myoclonus Syndrome |
POMC |
C0393665 | Multiple Sclerosis, Chronic Progressive |
HNRNPA1 |
C0394016 | Coma, Post-Head Injury |
TRH |
C0398368 | Lymphatic Abnormalities |
HOXA3 |
C0398623 | Thrombophilia |
F2, F8, FGA, MTHFR |
C0398689 | Hyper-Igm Immunodeficiency Syndrome, Type 1 |
CD40LG |
C0398691 | Hyperimmunoglobulinemia D |
MVK |
C0398791 | Nijmegen Breakage Syndrome |
NBN |
C0399352 | Developmental Absence Of Tooth |
LTBP3 |
C0399380 | Dentin Dyspalsia, Shields Type 2 |
DSPP |
C0400966 | Non-Alcoholic Fatty Liver Disease |
CYP17A1, ACE, F2, SAMM50, GSTA1, GSTM1, GSTP1, GSTT1, FAS, IL1A, LDLR, LEP, LIF, MMP1, PPARA, PPARD, SREBF1, TGFB1, TNFRSF1B, XBP1, PNPLA3, STC2, CD14, ADIPOQ, SCARB1 |
C0403447 | Chronic Kidney Insufficiency |
LCN2, NGF, RETN, AOC3 |
C0403823 | Asthenozoospermia |
GSTT1, PLAU |
C0406702 | Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive |
EDARADD |
C0406810 | Carney Complex |
PRKAR1A |
C0410189 | Muscular Dystrophy, Emery-Dreifuss |
EMD, SYNE2, LMNA |
C0410190 | Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (Disorder) |
SYNE2, LMNA, TMEM43 |
C0410203 | X-Linked Centronuclear Myopathy |
MAMLD1, MTM1 |
C0410916 | Neonatal Death |
FBN2, SPDL1, FAM20C, POMGNT2 |
C0424295 | Hyperactive Behavior |
DRD2, FOS, GABBR1, GCG, GIT1, HTR2C, NGF, NTRK2, NTS, TH, CCK |
C0428886 | Mean Blood Pressure |
KAT2B |
C0428977 | Bradycardia |
NISCH, CHRM2, ADORA1, CYP2D6, DRD2, AGT, EDN1, EDN2, GCG, GNAI2, GNRH1, KNG1, LHB, NTS, POMC, PRL, TRH |
C0431362 | Lobar Holoprosencephaly |
GAS1, GLI2, PTCH1, TDGF1, DISP1 |
C0431363 | Alobar Holoprosencephaly |
GAS1, GLI2, PTCH1, TDGF1, DISP1 |
C0431391 | Hemimegalencephaly |
AKT3, PIK3CA |
C0431943 | Lower Extremity Deformities, Congenital |
HOXD10, PCSK5 |
C0451641 | Urolithiasis |
SLC26A1, APRT |
C0455988 | Hydrops Fetalis, Non-Immune |
DNAH14, HBA1, NEU1, GALNT14, FZD6 |
C0457133 | Muscle Eye Brain Disease |
POMT1, GMPPB, FKRP, LARGE |
C0473527 | Hypoalphalipoproteinemias |
ABCA1, APOA1 |
C0476089 | Endometrial Carcinoma |
FGFR2, MLH3, MSH6, KRAS, MSH3, MUTYH, PTEN |
C0476254 | Dyslexia |
DCDC2 |
C0497327 | Dementia |
OSBPL1A, DNMT1, GRN, APP, MAPT |
C0497406 | Overweight |
LEPR |
C0497552 | Congenital Neurologic Anomalies |
SPRED1, HOXA1, ACTB, ACTG1 |
C0520459 | Necrotizing Enterocolitis |
HBEGF, ENO1, ALDH2, NOS3, CRYL1, SOD2, SORD, TLR4 |
C0520679 | Sleep Apnea, Obstructive |
EDNRA |
C0520757 | Delayed Emergence From Anesthesia |
ZFAND6 |
C0521607 | Peritoneal Fibrosis |
TGFB1 |
C0522224 | Paralysed |
APP, INS, TRPM7 |
C0524582 | Mulibrey Nanism |
TRIM37 |
C0524620 | Metabolic Syndrome X |
NR1H3, TOMM40, APOA5, CRP, LOC157273, ABCA1, GALNT2, HECTD4, HMGA1, HTR2C, APOB, IL6, IL18, INS, LEP, FADS1, LPL, NOS3, PON1, RETN, TRIB3, CCL2, SHBG, TCF7L2, FTO, BUD13, ZPR1, ADIPOQ, FADS2 |
C0524851 | Neurodegenerative Disorders |
CRYAB, FTH1, GPX3, GSR, GSTM1, GSTM2, GSTM4, HMOX1, APOD, APP, IL6, MAPT, MGST1, NGF, NGFR, SERPINA1, PKD2, TTC19, PSEN1, AGPAT3, SEPP1, SNCA, SOD2, VIM, PANK2, PDE8B, KYNU, GSTO1 |
C0524909 | Hepatitis B, Chronic |
EHMT2, CTGF, HLA-C, HLA-DPA1, HLA-DQA2, HP, CFB, TCF19 |
C0524910 | Hepatitis C, Chronic |
HP |
C0524948 | Maxillofacial Abnormalities |
MTHFR |
C0524988 | Schnitzler Syndrome |
IL1RN |
C0525041 | Neurobehavioral Manifestations |
CHRNA7, FKBP5, NGF |
C0525045 | Mood Disorders |
DCTN1 |
C0543859 | Amyotrophic Lateral Sclerosis, Guam Form |
TRPM7 |
C0546127 | Mercury Poisoning, Nervous System |
JUN |
C0546264 | Congenital Fiber Type Disproportion |
SEPN1, TPM2, TPM3, HACD1 |
C0546837 | Malignant Neoplasm Of Esophagus |
ADH1B, CSNK1A1, ALDH2, HECTD4, MUC1, PDE4D, HEATR3, PTPN2, ST6GAL1, TGFBR2, XBP1, RUNX1 |
C0549463 | X-Linked Lymphoproliferative Disorder |
XIAP |
C0549473 | Thyroid Carcinoma |
NRG1 |
C0549567 | Pigmentation Disorders |
MITF, MPV17 |
C0553580 | Ewings Sarcoma |
EGR2, ETV1, EWSR1, CIZ1 |
C0553586 | Cafe-Au-Lait Macules With Pulmonary Stenosis |
MAP2K2 |
C0553730 | Calcium Pyrophosphate Deposition Disease |
POMC |
C0553980 | Endomyocardial Fibrosis |
COL3A1, ADRB1, AGT, TGFB1 |