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

GeneID Gene_Symbol DisGeNet_diseaseID Disease_name DisGeNet score DisGeNet_sourceDB
6197RPS6KA3C0265252Coffin-Lowry syndrome0.712526487145508BEFREE;CTD_human;GAD;LHGDN;MGD;ORPHANET;UNIPROT
6197RPS6KA3C3714756Intellectual Disability0.203831819601666BEFREE;HPO;LHGDN
6197RPS6KA3C0027627Neoplasm Metastasis0.201098907136852BEFREE;CTD_human
6197RPS6KA3C0025362Mental Retardation0.200549453568426BEFREE;HPO
6197RPS6KA3C0036572Seizures0.200274726784213BEFREE;HPO
6197RPS6KA3C0796225Mental Retardation, X-Linked 190.200274726784213BEFREE;UNIPROT
6197RPS6KA3C2239176Liver carcinoma0.200274726784213BEFREE;CTD_human
6197RPS6KA3C4021787Abnormal diaphysis morphology0.2HPO
6197RPS6KA3C4072825Thickened facial skin with coarse facial features0.2HPO
6197RPS6KA3C4072831Delayed closure of the soft spot on the skull0.2HPO
6197RPS6KA3C4072834Rough hair texture0.2HPO
6197RPS6KA3C4082243Maxillary retrognathia0.2HPO
6197RPS6KA3C4280495Concave bridge of nose0.2HPO
6197RPS6KA3C4280516Thick craniofacial bones0.2HPO
6197RPS6KA3C4280517Enlargement of craniofacial bones0.2HPO
6197RPS6KA3C4280518Hypertrophy of craniofacial bones0.2HPO
6197RPS6KA3C4280560Increased thickness of cranium0.2HPO
6197RPS6KA3C4280606Hanging skin0.2HPO
6197RPS6KA3C4280613Angle class 3 malocclusion0.2HPO
6197RPS6KA3C4280614Angle class 2 malocclusion0.2HPO
6197RPS6KA3C4280617Tooth mass arch size discrepancy0.2HPO
6197RPS6KA3C4280618Inadequate arch length for tooth size0.2HPO
6197RPS6KA3C4280636Hypertrophy of supraorbital ridge0.2HPO
6197RPS6KA3C4280637Hypertrophy of supraorbital margins0.2HPO
6197RPS6KA3C4280638Hyperplasia of supraorbital ridge0.2HPO
6197RPS6KA3C4280639Hyperplasia of supraorbital margins0.2HPO
6197RPS6KA3C4280640Retrusion of upper jaw bones0.2HPO
6197RPS6KA3C4280641Hypotrophic maxilla0.2HPO
6197RPS6KA3C4280642Deficiency of upper jaw bones0.2HPO
6197RPS6KA3C4280643Decreased projection of maxilla0.2HPO
6197RPS6KA3C4280644Increased size of mandible0.2HPO
6197RPS6KA3C4280645Hypertrophy of lower jaw0.2HPO
6197RPS6KA3C0005941Bone Diseases, Developmental0.2CTD_human
6197RPS6KA3C0010495Cutis Laxa0.2HPO
6197RPS6KA3C0014544Epilepsy0.2HPO
6197RPS6KA3C0016202Flatfoot0.2HPO
6197RPS6KA3C0018784Sensorineural Hearing Loss (disorder)0.2HPO
6197RPS6KA3C0019294Hernia, Inguinal0.2HPO
6197RPS6KA3C0020534Orbital separation excessive0.2HPO
6197RPS6KA3C0020608Hypodontia0.2HPO
6197RPS6KA3C0022821Kyphosis deformity of spine0.2HPO
6197RPS6KA3C0023012Language Delay0.2HPO
6197RPS6KA3C0024433Macrostomia0.2HPO
6197RPS6KA3C0024636Malocclusion0.2HPO
6197RPS6KA3C0026266Mitral Valve Insufficiency0.2HPO
6197RPS6KA3C0026827Muscle hypotonia0.2HPO
6197RPS6KA3C0027626Neoplasm Invasiveness0.2CTD_human
6197RPS6KA3C0033922Psychomotor Disorders0.2CTD_human
6197RPS6KA3C0034888Rectal Prolapse0.2HPO
6197RPS6KA3C0037822Speech Disorders0.2HPO
6197RPS6KA3C0037932Curvature of spine0.2HPO
6197RPS6KA3C0040427Tooth Abnormalities0.2HPO
6197RPS6KA3C0040433Tooth Crowding0.2HPO
6197RPS6KA3C0041667Underweight0.2HPO
6197RPS6KA3C0042140Uterine Prolapse0.2HPO
6197RPS6KA3C0158731Congenital pectus carinatum0.2HPO
6197RPS6KA3C0221354Frontal bossing0.2HPO
6197RPS6KA3C0221357Brachydactyly0.2HPO
6197RPS6KA3C0233715Speech impairment0.2HPO
6197RPS6KA3C0239137Coxa valga0.2HPO
6197RPS6KA3C0240310Hypoplasia of the maxilla0.2HPO
6197RPS6KA3C0240379Open mouth0.2HPO
6197RPS6KA3C0240635Byzanthine arch palate0.2HPO
6197RPS6KA3C0241210Speech Delay0.2HPO
6197RPS6KA3C0262444Dental abnormalities0.2HPO
6197RPS6KA3C0263401Cutis marmorata0.2HPO
6197RPS6KA3C0264133Acquired flat foot0.2HPO
6197RPS6KA3C0264142Spade-like hand0.2HPO
6197RPS6KA3C0265696Sternum bifidum0.2HPO
6197RPS6KA3C0277959Coarse hair0.2HPO
6197RPS6KA3C0302501Mandibular hyperplasia0.2HPO
6197RPS6KA3C0349588Short stature0.2HPO
6197RPS6KA3C0399526Class III malocclusion0.2HPO
6197RPS6KA3C0423110Downward slant of palpebral fissure0.2HPO
6197RPS6KA3C0423113Telecanthus0.2HPO
6197RPS6KA3C0423903Low intelligence0.2HPO
6197RPS6KA3C0424688Small head0.2HPO
6197RPS6KA3C0424731Single transverse palmar crease0.2HPO
6197RPS6KA3C0426421Wide nose0.2HPO
6197RPS6KA3C0426429Broad nasal tip0.2HPO
6197RPS6KA3C0426870Large hand0.2HPO
6197RPS6KA3C0426886Tapering fingers (finding)0.2HPO
6197RPS6KA3C0454644Delayed speech and language development0.2HPO
6197RPS6KA3C0541764Delayed bone age0.2HPO
6197RPS6KA3C0575081Gait abnormality0.2HPO
6197RPS6KA3C0575158Kyphoscoliosis deformity of spine0.2HPO
6197RPS6KA3C0576225Long foot0.2HPO
6197RPS6KA3C0581342Redundant skin0.2HPO
6197RPS6KA3C0678230Congenital Epicanthus0.2HPO
6197RPS6KA3C0700208Acquired scoliosis0.2HPO
6197RPS6KA3C0917816Mental deficiency0.2HPO
6197RPS6KA3C1262477Weight decreased0.2HPO
6197RPS6KA3C1305420Prominent ear0.2HPO
6197RPS6KA3C1317785Tooth size discrepancy0.2HPO
6197RPS6KA3C1398312Narrow palate0.2HPO
6197RPS6KA3C1836542Depressed nasal bridge0.2HPO
6197RPS6KA3C1836688Narrow iliac wings0.2HPO
6197RPS6KA3C1837084Short metacarpal0.2HPO
6197RPS6KA3C1837260Prominent forehead0.2HPO
6197RPS6KA3C1837397Global developmental delay, severe0.2HPO
6197RPS6KA3C1839326Abnormally-shaped vertebrae0.2HPO
6197RPS6KA3C1839739Prominent lower lip0.2HPO
6197RPS6KA3C1839829Short distal phalanges0.2HPO
6197RPS6KA3C1840077Anteverted nostril0.2HPO
6197RPS6KA3C1842060Prominent supraorbital ridges0.2HPO
6197RPS6KA3C1843367Poor school performance0.2HPO
6197RPS6KA3C1844577Hyperextensible digits0.2HPO
6197RPS6KA3C1844806Weight less than 3rd percentile0.2HPO
6197RPS6KA3C1844809Thick nasal alae0.2HPO
6197RPS6KA3C1844810Thick nasal septum0.2HPO
6197RPS6KA3C1844813Widely spaced teeth0.2HPO
6197RPS6KA3C1844818Lumbar gibbus deformity0.2HPO
6197RPS6KA3C1844822'Drumstick' terminal phalanges0.2HPO
6197RPS6KA3C1844825Hyperconvex fingernails0.2HPO
6197RPS6KA3C1844906Broad fingers0.2HPO
6197RPS6KA3C1845112Hyperkyphosis0.2HPO
6197RPS6KA3C1845847Coarse facial features0.2HPO
6197RPS6KA3C1847879X-linked dominant0.2HPO
6197RPS6KA3C1853237Isolated cases0.2HPO
6197RPS6KA3C1853246Everted lower lip vermilion0.2HPO
6197RPS6KA3C1853487Bushy eyebrows0.2HPO
6197RPS6KA3C1854301Motor delay0.2HPO
6197RPS6KA3C1854919Severe psychomotor retardation0.2HPO
6197RPS6KA3C1855285Protruding ears0.2HPO
6197RPS6KA3C1856786Hypoplastic fingernails0.2HPO
6197RPS6KA3C1858452Thickened calvaria0.2HPO
6197RPS6KA3C1859520Progressive spasticity0.2HPO
6197RPS6KA3C1860253Accessory proximal metacarpal ossification centers0.2HPO
6197RPS6KA3C1866234Protruding lower lip0.2HPO
6197RPS6KA3C1867446Bulging forehead0.2HPO
6197RPS6KA3C1868085Craniofacial hyperostosis0.2HPO
6197RPS6KA3C1868571Thick, flared eyebrows0.2HPO
6197RPS6KA3C2051831Pectus excavatum0.2HPO
6197RPS6KA3C2053437Full lower lip0.2HPO
6197RPS6KA3C2227134mandibular excess (physical finding)0.2HPO
6197RPS6KA3C2674608Feeding difficulties in infancy0.2HPO
6197RPS6KA3C2930812Generalized elastolysis0.2HPO
6197RPS6KA3C3278923Dilated ventricles (finding)0.2HPO
6197RPS6KA3C3549698Coxa valga deformity0.2HPO
6197RPS6KA3C3550546Depressed nasal root/bridge0.2HPO
6197RPS6KA3C3551535Mitral regurgitation, mild0.2HPO
6197RPS6KA3C3553764Joint hyperflexibility0.2HPO
6197RPS6KA3C3840083Late closure of anterior fontanel0.2HPO
6197RPS6KA3C4020849Bowed and upward slanting eyebrows0.2HPO
6197RPS6KA3C4020874No development of motor milestones0.2HPO
6197RPS6KA3C4020876Dull intelligence0.2HPO
6197RPS6KA3C1136249Mental Retardation, X-Linked0.00328236603323995BEFREE;LHGDN
6197RPS6KA3C0004135Ataxia Telangiectasia0.00273291246481375LHGDN
6197RPS6KA3C0033578Prostatic Neoplasms0.00273291246481375LHGDN
6197RPS6KA3C0018671Head and Neck Neoplasms0.002407028523288GAD
6197RPS6KA3C0027643Neoplasm Recurrence, Local0.002407028523288GAD
6197RPS6KA3C0085183Neoplasms, Second Primary0.002407028523288GAD
6197RPS6KA3C0006142Malignant neoplasm of breast0.0010989071368524BEFREE
6197RPS6KA3C0678222Breast Carcinoma0.0010989071368524BEFREE
6197RPS6KA3C3539878Triple Negative Breast Neoplasms0.0008241803526393BEFREE
6197RPS6KA3C0026764Multiple Myeloma0.0005494535684262BEFREE
6197RPS6KA3C0027819Neuroblastoma0.0005494535684262BEFREE
6197RPS6KA3C0028754Obesity0.0005494535684262BEFREE
6197RPS6KA3C0029925Ovarian Carcinoma0.0005494535684262BEFREE
6197RPS6KA3C0178874Tumor Progression0.0005494535684262BEFREE
6197RPS6KA3C0343084Capillary Leak Syndrome0.0005494535684262BEFREE
6197RPS6KA3C0376358Malignant neoplasm of prostate0.0005494535684262BEFREE
6197RPS6KA3C0596263Carcinogenesis0.0005494535684262BEFREE
6197RPS6KA3C0600139Prostate carcinoma0.0005494535684262BEFREE
6197RPS6KA3C0700095Central neuroblastoma0.0005494535684262BEFREE
6197RPS6KA3C1140680Malignant neoplasm of ovary0.0005494535684262BEFREE
6197RPS6KA3C4021790Abnormality of the skeletal system0.0002747267842131BEFREE
6197RPS6KA3C0000768Congenital Abnormality0.0002747267842131BEFREE
6197RPS6KA3C0001125Acidosis, Lactic0.0002747267842131BEFREE
6197RPS6KA3C0003873Rheumatoid Arthritis0.0002747267842131BEFREE
6197RPS6KA3C0007102Malignant tumor of colon0.0002747267842131BEFREE
6197RPS6KA3C0007137Squamous cell carcinoma0.0002747267842131BEFREE
6197RPS6KA3C0008497Choriocarcinoma0.0002747267842131BEFREE
6197RPS6KA3C0008626Congenital chromosomal disease0.0002747267842131BEFREE
6197RPS6KA3C0009402Colorectal Carcinoma0.0002747267842131BEFREE
6197RPS6KA3C0011860Diabetes Mellitus, Non-Insulin-Dependent0.0002747267842131BEFREE
6197RPS6KA3C0023418leukemia0.0002747267842131BEFREE
6197RPS6KA3C0023470Myeloid Leukemia0.0002747267842131BEFREE
6197RPS6KA3C0023492Leukemia, T-Cell0.0002747267842131BEFREE
6197RPS6KA3C0024790Paroxysmal nocturnal hemoglobinuria0.0002747267842131BEFREE
6197RPS6KA3C0024894Mastitis0.0002747267842131BEFREE
6197RPS6KA3C0026106Mild Mental Retardation0.0002747267842131BEFREE
6197RPS6KA3C0027022Myeloproliferative disease0.0002747267842131BEFREE
6197RPS6KA3C0028326Noonan Syndrome0.0002747267842131BEFREE
6197RPS6KA3C0029453Osteopenia0.0002747267842131BEFREE
6197RPS6KA3C0029463Osteosarcoma0.0002747267842131BEFREE
6197RPS6KA3C0033975Psychotic Disorders0.0002747267842131BEFREE
6197RPS6KA3C0036220Kaposi Sarcoma0.0002747267842131BEFREE
6197RPS6KA3C0041409Turner Syndrome, Male0.0002747267842131BEFREE
6197RPS6KA3C0042769Virus Diseases0.0002747267842131BEFREE
6197RPS6KA3C0043119Werner Syndrome0.0002747267842131BEFREE
6197RPS6KA3C0086025Codependency0.0002747267842131BEFREE
6197RPS6KA3C0233794Memory impairment0.0002747267842131BEFREE
6197RPS6KA3C0242379Malignant neoplasm of lung0.0002747267842131BEFREE
6197RPS6KA3C0242596Neoplasm, Residual0.0002747267842131BEFREE
6197RPS6KA3C0265253Stickler syndrome (disorder)0.0002747267842131BEFREE
6197RPS6KA3C0278488Carcinoma breast stage IV0.0002747267842131BEFREE
6197RPS6KA3C0281267bilateral breast cancer0.0002747267842131BEFREE
6197RPS6KA3C0332996Persistent embryonic structure0.0002747267842131BEFREE
6197RPS6KA3C0338656Impaired cognition0.0002747267842131BEFREE
6197RPS6KA3C0349204Nonorganic psychosis0.0002747267842131BEFREE
6197RPS6KA3C0424295Hyperactive behavior0.0002747267842131BEFREE
6197RPS6KA3C0497406Overweight0.0002747267842131BEFREE
6197RPS6KA3C0585442Osteosarcoma of bone0.0002747267842131BEFREE
6197RPS6KA3C0598935Tumor Initiation0.0002747267842131BEFREE
6197RPS6KA3C0677898invasive cancer0.0002747267842131BEFREE
6197RPS6KA3C0684249Carcinoma of lung0.0002747267842131BEFREE
6197RPS6KA3C0699790Colon Carcinoma0.0002747267842131BEFREE
6197RPS6KA3C0854917Rhabdoid Tumor of the Kidney0.0002747267842131BEFREE
6197RPS6KA3C1168401Squamous cell carcinoma of the head and neck0.0002747267842131BEFREE
6197RPS6KA3C1176475Ductal Carcinoma0.0002747267842131BEFREE
6197RPS6KA3C1292778Chronic myeloproliferative disorder0.0002747267842131BEFREE
6197RPS6KA3C1306460Primary malignant neoplasm of lung0.0002747267842131BEFREE
6197RPS6KA3C1458155Mammary Neoplasms0.0002747267842131BEFREE
6197RPS6KA3C1512409Hepatocarcinogenesis0.0002747267842131BEFREE
6197RPS6KA3C1527249Colorectal Cancer0.0002747267842131BEFREE
6197RPS6KA3C1527349Ductal Breast Carcinoma0.0002747267842131BEFREE
6197RPS6KA3C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma0.0002747267842131BEFREE
6197RPS6KA3C2020284Stickler syndrome, type 10.0002747267842131BEFREE
6197RPS6KA3C3495439Inflammatory disorder of breast0.0002747267842131BEFREE
6197RPS6KA3C3887505DYSFUNCTION - SKIN DISORDERS0.0002747267842131BEFREE