• TumorFusions
  • OMIM
  • DisGeNET
  • GWASdb
  • ActiveDriverDB

  
TumorFusions
CancerGeneChrStrandJunctionTierFrameCentrality
BRCADUSP101-1221879808Tier2Out-of-frame0.37938


OMIM
MIM NumberMIM Entry TypeEntrez IDApproved Gene Symbol
601054Gene 5362PLXNA2


DisGeNET
Disease NameScoreNof ReferencesNof SNPsSource
Albinism0.000549453568426220BEFREE
Anxiety0.002956482091714221BEFREE; GAD
Anxiety Disorders0.002956482091714221BEFREE; GAD
Beckwith-Wiedemann Syndrome0.000274726784213110BEFREE
Mental disorders0.000274726784213110BEFREE
Diabetes Mellitus, Non-Insulin-Dependent0.000274726784213110BEFREE
Glioblastoma0.000274726784213110BEFREE
Hepatitis, Chronic0.000274726784213110BEFREE
HIV Infections0.000274726784213110BEFREE
Chronic Lymphocytic Leukemia0.000274726784213110BEFREE
Lymphoma0.000274726784213110BEFREE
Lymphoma, Non-Hodgkin0.000549453568426220BEFREE
Mental Retardation0.000274726784213110BEFREE
Myopia0.000274726784213110BEFREE
Neuroblastoma0.000274726784213110BEFREE
Nystagmus0.000274726784213110BEFREE
Optic Disk Drusen0.000274726784213110BEFREE
Osteoporosis0.000274726784213110BEFREE
Parkinson Disease0.00240702852328810GAD
Polycystic Ovary Syndrome0.000274726784213110BEFREE
Refractive Errors0.000274726784213110BEFREE
Retinal Diseases0.000274726784213110BEFREE
Retinitis Pigmentosa0.000274726784213110BEFREE
Schizophrenia0.21920048540865984BEFREE; CTD_human; GAD; LHGDN
Tobacco Use Disorder0.00240702852328810GAD
B-Cell Lymphomas0.000274726784213110BEFREE
Atrophic condition of skin0.000274726784213110BEFREE
Achromatopsia0.000274726784213110BEFREE
Abnormal behavior0.000274726784213110BEFREE
Age related macular degeneration0.000274726784213110BEFREE
Ornithine carbamoyltransferase deficiency0.000549453568426220BEFREE
Retinoschisis, Juvenile, X-Linked0.000549453568426220BEFREE
Achromatopsia 10.000274726784213110BEFREE
Mixed anxiety and depressive disorder0.20027472678421312BEFREE; PSYGENET
Vitelliform Macular Dystrophy0.001373633921065550BEFREE
X-linked retinitis pigmentosa0.000274726784213110BEFREE
Familial Exudative Vitreoretinopathy0.000274726784213110BEFREE
Malignant neoplasm of prostate0.000274726784213110BEFREE
Hyperactive behavior0.000274726784213110BEFREE
Atrophic retina0.001098907136852440BEFREE
Alveolitis0.000274726784213110BEFREE
Manifest-latent nystagmus0.000274726784213110BEFREE
Prostate carcinoma0.000274726784213110BEFREE
Central neuroblastoma0.000274726784213110BEFREE
Cone dystrophy0.000274726784213110BEFREE
Disorder of macula of retina0.000274726784213110BEFREE
Psychological distress0.000274726784213112BEFREE
Retinal Dystrophies0.000274726784213110BEFREE
Optic Atrophy, Hereditary, Leber0.000274726784213110BEFREE
Drusen0.000549453568426220BEFREE
Cavitation0.000274726784213110BEFREE
Microcyst0.000274726784213110BEFREE
Geographic Atrophy0.000824180352639330BEFREE
Central areolar choroidal sclerosis0.000274726784213110BEFREE
Retinal pigment epithelium atrophy0.000274726784213110BEFREE
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A0.000274726784213110BEFREE
STARGARDT DISEASE 1 (disorder)0.000549453568426220BEFREE
Photoreceptor degeneration0.000274726784213110BEFREE
OCCULT MACULAR DYSTROPHY0.000274726784213110BEFREE
Intellectual Disability0.000274726784213110BEFREE
Human immunodeficiency virus (HIV) II infection category B10.000274726784213110BEFREE
DYSFUNCTION - SKIN DISORDERS0.000274726784213110BEFREE


GWASdb
ChrPositionRS IDRefAltP-valueP-value TextDrug NameDrug AnnotationHPO IDReferences
1208197882 rs591305GC1.23E-05Change in blood pressure to methylphenidate treatment of attention-deficit/hyperactivity disorderMETHYLPHENIDATESODIUM-CALCIUM EXCHANGER|CENTRAL NERVOUS SYSTEM STIMULANTS|SLC24A3 PROTEIN, HUMANHPOID:0007018|HPOID:0012173|HPOID:0006979 21130132
1208205643 rs7520548CA0.000384METHIONINECASPASE 1|CASPASE 9|CASP9 PROTEIN, HUMAN|5'-METHYLTHIOADENOSINE|APIP PROTEIN, HUMAN|DEOXYADENOSINES|THIONUCLEOSIDES|APOPTOSIS REGULATORY PROTEINS 22837397
1208408503 rs2782934AG6.12E-05HDL cholesterol change with statinsATORVASTATINSERINE ENDOPEPTIDASES|PYRROLES|PCSK9 PROTEIN, HUMAN|HEPTANOIC ACIDS|APOLIPOPROTEINS E|PROPROTEIN CONVERTASESHPOID:0001626 20031582


ActiveDriverDB
PositionRefAltCancerSample ID
783VMPancancerComments: na brca tcga-a2-a0yd-01a-11d-a10g-09 30427 19416
725RQPancancerComments: na brca tcga-a8-a06z-01a-11w-a019-09 33080 21130
34GSPancancerComments: na brca tcga-a8-a09i-01a-22w-a050-09 36216 23168
259QHPancancerComments: na brca tcga-b6-a0ij-01a-11w-a050-09 44686 28726
950TAPancancerComments: na brca tcga-d8-a1y1-01a-21d-a14k-09 57252 36912
1680RWPancancerComments: na coadread tcga-ag-3608-01a-01w-0833-10 79189 51241
1686GDPancancerComments: na gbm tcga-27-2524-01a-01d-1494-08 97712 63334
21LIPancancerComments: na gbm tcga-76-4935-01a-01d-1486-08 102963 66803
654YSPancancerComments: na gbm tcga-76-6280-01a-21d-1845-08 103227 66975
128ATPancancerComments: na hnsc tcga-cn-5360-01a-01d-1434-08 114594 74179
1694DNPancancerComments: na hnsc tcga-cn-6016-01a-11d-1683-08 118090 76366
1166GDPancancerComments: na hnsc tcga-cn-6021-01a-11d-1683-08 118704 76767
1168NTPancancerComments: na hnsc tcga-cq-5327-01a-01d-1683-08 121335 78409
1046IMPancancerComments: na hnsc tcga-cr-7364-01a-11d-2012-08 127160 82156
1323RQPancancerComments: na hnsc tcga-cv-6962-01a-11d-1912-08 140753 90690
1420KRPancancerComments: na kirc tcga-ak-3458-01a-01d-1501-10 157640 101322
1594VAPancancerComments: na kirc tcga-b8-4154-01a-01d-1251-10 165253 105878
1508DYPancancerComments: na luad tcga-05-4382-01a-01d-1265-08 184366 117479
352DYPancancerComments: na luad tcga-05-4382-01a-01d-1265-08 184367 117480
1336RWPancancerComments: na luad tcga-05-4384-01a-01d-1753-08 185992 118571
1202EKPancancerComments: na luad tcga-17-z057-01a-01w-0747-08 212827 136056
1669GVPancancerComments: na luad tcga-64-5775-01a-01d-1625-08 245703 157439
141RWPancancerComments: na luad tcga-64-5775-01a-01d-1625-08 245704 157440
170GWPancancerComments: na luad tcga-67-3771-01 249721 160032
1170CYPancancerComments: na luad tcga-91-6836-01a-21d-1855-08 258654 165937
715GRPancancerComments: na lusc tcga-33-4582-01a-01d-1441-08 277224 178191
597GWPancancerComments: na lusc tcga-43-3920-01a-01d-0983-08 290731 187126
225LPPancancerComments: na lusc tcga-60-2709-01a-21d-1817-08 297999 191918
632GRPancancerComments: na ov tcga-09-2049-01d-01w-0799-08 317510 204919
289KMPancancerComments: na ov tcga-13-0894-01b-01w-0494-09 320381 206878
1327PLPancancerComments: na ov tcga-59-2350-01a-01w-0799-08 331968 214788
123EDPancancerComments: na ucec tcga-ap-a05h-01a-11w-a027-09 341581 221092
546AVPancancerComments: na ucec tcga-ap-a0lg-01a-11w-a062-09 343270 222212
1726RGPancancerComments: na ucec tcga-ax-a063-01a-11w-a027-09 346558 224279
118ITPancancerComments: na ucec tcga-bg-a0m0-01a-11w-a10c-09 356692 230772
546AVPancancerComments: na ucec tcga-d1-a160-01a-11d-a122-09 367954 237983
1876RQPancancerComments: na ucec tcga-d1-a163-01a-11d-a12j-09 368502 238334
1668RWPancancerComments: na ucec tcga-d1-a174-01a-11d-a12j-09 371526 240278
261EKPancancerComments: na ucec tcga-di-a0wh-01a-12d-a12j-09 376410 243373