* We recommend a score >= 0.08 for meaningful Gene-Disease associations

GeneID Gene_Symbol DisGeNet_diseaseID Disease_name DisGeNet score DisGeNet_sourceDB
5295PIK3R1C0878684SHORT syndrome0.401098907136852BEFREE;ORPHANET;UNIPROT
5295PIK3R1C0021655Insulin Resistance0.202407028523288CTD_human;GAD
5295PIK3R1C0023787Lipodystrophy0.200824180352639BEFREE;HPO
5295PIK3R1C0265341Rieger syndrome0.200549453568426BEFREE;HPO
5295PIK3R1C1280433Lipoatrophy0.200549453568426BEFREE;HPO
5295PIK3R1C0086438Hypogammaglobulinemia0.200274726784213BEFREE;HPO
5295PIK3R1C0001768Agammaglobulinemia0.200274726784213BEFREE;HPO
5295PIK3R1C0001973Alcoholic Intoxication, Chronic0.200274726784213BEFREE;PSYGENET
5295PIK3R1C0015230Exanthema0.200274726784213BEFREE;HPO
5295PIK3R1C0020456Hyperglycemia0.200274726784213BEFREE;HPO
5295PIK3R1C0021051Immunologic Deficiency Syndromes0.200274726784213BEFREE;HPO
5295PIK3R1C0037199Sinusitis0.2HPO
5295PIK3R1C0037301Skin Wrinkling0.2HPO
5295PIK3R1C0086437Joint laxity0.2HPO
5295PIK3R1C0086543Cataract0.2HPO
5295PIK3R1C0152421Macrotia0.2HPO
5295PIK3R1C0221354Frontal bossing0.2HPO
5295PIK3R1C0231246Failure to gain weight0.2HPO
5295PIK3R1C0233715Speech impairment0.2HPO
5295PIK3R1C0235991Small for gestational age (disorder)0.2HPO
5295PIK3R1C0239174Late tooth eruption0.2HPO
5295PIK3R1C0240295Mandibular hypoplasia0.2HPO
5295PIK3R1C0241210Speech Delay0.2HPO
5295PIK3R1C0265610Congenital clinodactyly0.2HPO
5295PIK3R1C0271441Chronic otitis media0.2HPO
5295PIK3R1C0271650Impaired glucose tolerance0.2HPO
5295PIK3R1C0344530Congenital keratoglobus0.2HPO
5295PIK3R1C0423113Telecanthus0.2HPO
5295PIK3R1C0423224Sunken eyes0.2HPO
5295PIK3R1C0423757Thin skin0.2HPO
5295PIK3R1C0454644Delayed speech and language development0.2HPO
5295PIK3R1C0541764Delayed bone age0.2HPO
5295PIK3R1C0554972Large auricle0.2HPO
5295PIK3R1C0743359ear infection chronic0.2HPO
5295PIK3R1C0853697Neutrophil count decreased0.2HPO
5295PIK3R1C0854110Insulin resistant diabetes0.2HPO
5295PIK3R1C1167712Corneal diameter increased0.2HPO
5295PIK3R1C1386048Intrauterine retardation0.2HPO
5295PIK3R1C1510497Lens Opacities0.2HPO
5295PIK3R1C1833328Enlarged epiphyses0.2HPO
5295PIK3R1C1834055Thin hypoplastic alae nasi0.2HPO
5295PIK3R1C1835581Large protruding ears0.2HPO
5295PIK3R1C1835884Triangular face0.2HPO
5295PIK3R1C1836189Radially deviated fingers0.2HPO
5295PIK3R1C1837260Prominent forehead0.2HPO
5295PIK3R1C1839764Broad flat nasal bridge0.2HPO
5295PIK3R1C1844383Recurrent bacterial infection0.2HPO
5295PIK3R1C1848570Large, floppy ears0.2HPO
5295PIK3R1C1848924Infantile onset0.2HPO
5295PIK3R1C1849227CLEFT CHIN0.2HPO
5295PIK3R1C1849367Nasal bridge wide0.2HPO
5295PIK3R1C1850189Large pinnae0.2HPO
5295PIK3R1C1853193Recurrent skin infections0.2HPO
5295PIK3R1C1855062Large dysplastic ears0.2HPO
5295PIK3R1C1855650Birth length less than 3rd percentile0.2HPO
5295PIK3R1C1857130Hypoplastic mandible condyle0.2HPO
5295PIK3R1C1860838Large prominent ears0.2HPO
5295PIK3R1C1864156Conjunctivitis, recurrent0.2HPO
5295PIK3R1C1867446Bulging forehead0.2HPO
5295PIK3R1C2242472Infection of bone0.2HPO
5295PIK3R1C2315100Pediatric failure to thrive0.2HPO
5295PIK3R1C2748958Increased susceptibility to bacterial infections0.2HPO
5295PIK3R1C3152144AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE0.2ORPHANET
5295PIK3R1C3714976ACTIVATED PI3K-DELTA SYNDROME0.2ORPHANET
5295PIK3R1C3806482Recurrent respiratory infections0.2HPO
5295PIK3R1C4020846Prone to bacterial infection0.2HPO
5295PIK3R1C4020899Autosomal recessive predisposition0.2HPO
5295PIK3R1C4021753Abnormality of the immune system0.2HPO
5295PIK3R1C4048270Decreased antibody level in blood0.2HPO
5295PIK3R1C4280304Curvature of digit0.2HPO
5295PIK3R1C4280613Angle class 3 malocclusion0.2HPO
5295PIK3R1C4280614Angle class 2 malocclusion0.2HPO
5295PIK3R1C0003864Arthritis0.2HPO
5295PIK3R1C0006413Burkitt Lymphoma0.2CTD_human
5295PIK3R1C0009763Conjunctivitis0.2HPO
5295PIK3R1C0010200Coughing0.2HPO
5295PIK3R1C0011991Diarrhea0.2HPO
5295PIK3R1C0014306Enophthalmos0.2HPO
5295PIK3R1C0015672Fatigue0.2HPO
5295PIK3R1C0015934Fetal Growth Retardation0.2HPO
5295PIK3R1C0015967Fever0.2HPO
5295PIK3R1C0017601Glaucoma0.2HPO
5295PIK3R1C0018784Sensorineural Hearing Loss (disorder)0.2HPO
5295PIK3R1C0019294Hernia, Inguinal0.2HPO
5295PIK3R1C0020608Hypodontia0.2HPO
5295PIK3R1C0021296Infant, Small for Gestational Age0.2HPO
5295PIK3R1C0023012Language Delay0.2HPO
5295PIK3R1C0024032Low Birth Weights0.2HPO
5295PIK3R1C0024636Malocclusion0.2HPO
5295PIK3R1C0024667Animal Mammary Neoplasms0.2CTD_human
5295PIK3R1C0024668Mammary Neoplasms, Experimental0.2CTD_human
5295PIK3R1C0025990Micrognathism0.2HPO
5295PIK3R1C0027092Myopia0.2HPO
5295PIK3R1C0029443Osteomyelitis0.2HPO
5295PIK3R1C0030469Paranasal Sinus Diseases0.2HPO
5295PIK3R1C0221026X-linked agammaglobulinemia0.0802747267842131BEFREE;MGD
5295PIK3R1C1458155Mammary Neoplasms0.010931649859255LHGDN
5295PIK3R1C0011860Diabetes Mellitus, Non-Insulin-Dependent0.0077705391382902BEFREE;GAD
5295PIK3R1C0033578Prostatic Neoplasms0.0057405517138406BEFREE;LHGDN
5295PIK3R1C0017636Glioblastoma0.00383181960166615BEFREE;LHGDN
5295PIK3R1C2239176Liver carcinoma0.00328236603323995BEFREE;LHGDN
5295PIK3R1C0032460Polycystic Ovary Syndrome0.0029564820917142BEFREE;GAD
5295PIK3R1C0376358Malignant neoplasm of prostate0.0029564820917142BEFREE;GAD
5295PIK3R1C0019693HIV Infections0.0026817553075011BEFREE;GAD
5295PIK3R1C0040336Tobacco Use Disorder0.002407028523288GAD
5295PIK3R1C0002395Alzheimer's Disease0.002407028523288GAD
5295PIK3R1C0009375Colonic Neoplasms0.002407028523288GAD
5295PIK3R1C0020538Hypertensive disease0.002407028523288GAD
5295PIK3R1C0022661Kidney Failure, Chronic0.002407028523288GAD
5295PIK3R1C0028754Obesity0.002407028523288GAD
5295PIK3R1C0030297Pancreatic Neoplasm0.002407028523288GAD
5295PIK3R1C0031099Periodontitis0.002407028523288GAD
5295PIK3R1C0678222Breast Carcinoma0.0010989071368524BEFREE
5295PIK3R1C0699790Colon Carcinoma0.0010989071368524BEFREE
5295PIK3R1C0027627Neoplasm Metastasis0.0010989071368524BEFREE
5295PIK3R1C0476089Endometrial Carcinoma0.0008241803526393BEFREE
5295PIK3R1C1883486Uterine Corpus Cancer0.0008241803526393BEFREE
5295PIK3R1C0006142Malignant neoplasm of breast0.0008241803526393BEFREE
5295PIK3R1C0007102Malignant tumor of colon0.0008241803526393BEFREE
5295PIK3R1C0007103Malignant neoplasm of endometrium0.0008241803526393BEFREE
5295PIK3R1C0600139Prostate carcinoma0.0005494535684262BEFREE
5295PIK3R1C1851841ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 10.0005494535684262BEFREE
5295PIK3R1C3495489Rieger eye malformation sequence0.0005494535684262BEFREE
5295PIK3R1C0007131Non-Small Cell Lung Carcinoma0.0005494535684262BEFREE
5295PIK3R1C0009319Colitis0.0005494535684262BEFREE
5295PIK3R1C0023418leukemia0.0005494535684262BEFREE
5295PIK3R1C0032461Polycythemia0.0002747267842131BEFREE
5295PIK3R1C0038454Cerebrovascular accident0.0002747267842131BEFREE
5295PIK3R1C0079731B-Cell Lymphomas0.0002747267842131BEFREE
5295PIK3R1C0085110Severe Combined Immunodeficiency0.0002747267842131BEFREE
5295PIK3R1C0149678Epstein-Barr Virus Infections0.0002747267842131BEFREE
5295PIK3R1C0152264Familial erythrocytosis0.0002747267842131BEFREE
5295PIK3R1C0220989Acquired partial lipodystrophy0.0002747267842131BEFREE
5295PIK3R1C0242379Malignant neoplasm of lung0.0002747267842131BEFREE
5295PIK3R1C0279626Squamous cell carcinoma of esophagus0.0002747267842131BEFREE
5295PIK3R1C0342335Insulin resistance in diabetes0.0002747267842131BEFREE
5295PIK3R1C0345904Malignant neoplasm of liver0.0002747267842131BEFREE
5295PIK3R1C0349639Juvenile Myelomonocytic Leukemia0.0002747267842131BEFREE
5295PIK3R1C0494463Alzheimer Disease, Late Onset0.0002747267842131BEFREE
5295PIK3R1C0524620Metabolic Syndrome X0.0002747267842131BEFREE
5295PIK3R1C0525045Mood Disorders0.0002747267842131BEFREE
5295PIK3R1C0555198Malignant Glioma0.0002747267842131BEFREE
5295PIK3R1C0596263Carcinogenesis0.0002747267842131BEFREE
5295PIK3R1C0677936Refractory cancer0.0002747267842131BEFREE
5295PIK3R1C0684249Carcinoma of lung0.0002747267842131BEFREE
5295PIK3R1C0699885Carcinoma of bladder0.0002747267842131BEFREE
5295PIK3R1C0700095Central neuroblastoma0.0002747267842131BEFREE
5295PIK3R1C0740457Malignant neoplasm of kidney0.0002747267842131BEFREE
5295PIK3R1C0919267ovarian neoplasm0.0002747267842131BEFREE
5295PIK3R1C1306460Primary malignant neoplasm of lung0.0002747267842131BEFREE
5295PIK3R1C1335302Pancreatic Ductal Adenocarcinoma0.0002747267842131BEFREE
5295PIK3R1C1378703Renal carcinoma0.0002747267842131BEFREE
5295PIK3R1C1621958Glioblastoma Multiforme0.0002747267842131BEFREE
5295PIK3R1C2145472Urothelial Carcinoma0.0002747267842131BEFREE
5295PIK3R1C3241937Nonalcoholic Steatohepatitis0.0002747267842131BEFREE
5295PIK3R1C0001956alcohol use disorder0.0002747267842131BEFREE
5295PIK3R1C0004114Astrocytoma0.0002747267842131BEFREE
5295PIK3R1C0004364Autoimmune Diseases0.0002747267842131BEFREE
5295PIK3R1C0005684Malignant neoplasm of urinary bladder0.0002747267842131BEFREE
5295PIK3R1C0005695Bladder Neoplasm0.0002747267842131BEFREE
5295PIK3R1C0007134Renal Cell Carcinoma0.0002747267842131BEFREE
5295PIK3R1C0007138Carcinoma, Transitional Cell0.0002747267842131BEFREE
5295PIK3R1C0011847Diabetes0.0002747267842131BEFREE
5295PIK3R1C0011849Diabetes Mellitus0.0002747267842131BEFREE
5295PIK3R1C0011881Diabetic Nephropathy0.0002747267842131BEFREE
5295PIK3R1C0014170Endometrial Neoplasms0.0002747267842131BEFREE
5295PIK3R1C0017638Glioma0.0002747267842131BEFREE
5295PIK3R1C0019829Hodgkin Disease0.0002747267842131BEFREE
5295PIK3R1C0022118Transient ischemia0.0002747267842131BEFREE
5295PIK3R1C0023434Chronic Lymphocytic Leukemia0.0002747267842131BEFREE
5295PIK3R1C0023467Leukemia, Myelocytic, Acute0.0002747267842131BEFREE
5295PIK3R1C0025958Microcephaly0.0002747267842131BEFREE
5295PIK3R1C0026764Multiple Myeloma0.0002747267842131BEFREE
5295PIK3R1C0027819Neuroblastoma0.0002747267842131BEFREE
5295PIK3R1C0029408Degenerative polyarthritis0.0002747267842131BEFREE
5295PIK3R1C0029927Ovarian Cysts0.0002747267842131BEFREE