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

GeneID Gene_Symbol DisGeNet_diseaseID Disease_name DisGeNet score DisGeNet_sourceDB
2138EYA1C0265234Branchio-Oto-Renal Syndrome0.705477814045232BEFREE;CTD_human;LHGDN;MGD;ORPHANET;UNIPROT
2138EYA1C1865143BRANCHIOOTIC SYNDROME 10.400549453568426BEFREE;ORPHANET;UNIPROT
2138EYA1C0018777Conductive hearing loss0.400274726784213BEFREE;CTD_human;HPO
2138EYA1C0546969Preauricular Fistulae, Congenital0.201098907136852BEFREE;HPO
2138EYA1C0000768Congenital Abnormality0.200824180352639BEFREE;CTD_human
2138EYA1C1833691Otofaciocervical Syndrome0.200549453568426BEFREE;CTD_human
2138EYA1C0006131Branchioma0.200274726784213BEFREE;HPO
2138EYA1C0042580Vesico-Ureteral Reflux0.200274726784213BEFREE;HPO
2138EYA1C0339789Congenital deafness0.200274726784213BEFREE;HPO
2138EYA1C0376634Craniofacial Abnormalities0.200274726784213BEFREE;CTD_human
2138EYA1C0431406Asymmetric crying face association0.200274726784213BEFREE;CTD_human
2138EYA1C0557874Global developmental delay0.200274726784213BEFREE;HPO
2138EYA1C3536714Renal dysplasia0.200274726784213BEFREE;HPO
2138EYA1C4020875Mental and motor retardation0.2HPO
2138EYA1C4020876Dull intelligence0.2HPO
2138EYA1C4020892Capuchin ears0.2HPO
2138EYA1C4021154Enlarged cochlear aqueduct0.2HPO
2138EYA1C4021395Abnormality of the antihelix0.2HPO
2138EYA1C4021762Abnormality of the cerebrum0.2HPO
2138EYA1C4021792Abnormality of the clavicle0.2HPO
2138EYA1C4021796Renal steatosis0.2HPO
2138EYA1C4025857Incomplete partition of the cochlea type II0.2HPO
2138EYA1C4072826Skin tag on the posterior cheek0.2HPO
2138EYA1C4072849Scapular weakness0.2HPO
2138EYA1C4280495Concave bridge of nose0.2HPO
2138EYA1C4280611Decreased size of teeth0.2HPO
2138EYA1C4280612Decreased width of tooth0.2HPO
2138EYA1C4280647Hypertrophy of cheeks0.2HPO
2138EYA1C4280648Hyperplasia of cheeks0.2HPO
2138EYA1C0008373Cholesteatoma0.2HPO
2138EYA1C0008925Cleft Palate0.2HPO
2138EYA1C0011053Deafness0.2HPO
2138EYA1C0018772Hearing Loss, Partial0.2HPO
2138EYA1C0018784Sensorineural Hearing Loss (disorder)0.2HPO
2138EYA1C0018798Congenital Heart Defects0.2CTD_human
2138EYA1C0019555Hip Dislocation, Congenital0.2HPO
2138EYA1C0022680Polycystic Kidney Diseases0.2HPO
2138EYA1C0025362Mental Retardation0.2HPO
2138EYA1C0026106Mild Mental Retardation0.2HPO
2138EYA1C0026826Muscle Hypertonia0.2HPO
2138EYA1C0037822Speech Disorders0.2HPO
2138EYA1C0151889Hyperreflexia0.2HPO
2138EYA1C0152421Macrotia0.2HPO
2138EYA1C0152423Congenital small ears0.2HPO
2138EYA1C0155552Hearing Loss, Mixed Conductive-Sensorineural0.2HPO
2138EYA1C0221210Congenital malrotation of intestine0.2HPO
2138EYA1C0238210Malrotation of kidney0.2HPO
2138EYA1C0239234Low set ears0.2HPO
2138EYA1C0240340Microdontia (disorder)0.2HPO
2138EYA1C0240635Byzanthine arch palate0.2HPO
2138EYA1C0240953Winged scapula0.2HPO
2138EYA1C0266063Deep overbite0.2HPO
2138EYA1C0266067Posterior lingual occlusion of mandibular teeth0.2HPO
2138EYA1C0266122Cleft uvula0.2HPO
2138EYA1C0266610Preauricular dimple0.2HPO
2138EYA1C0266625Preauricular sinus0.2HPO
2138EYA1C0302859Euthyroid Goiter0.2HPO
2138EYA1C0349588Short stature0.2HPO
2138EYA1C0395837Stenosis of external auditory canal0.2HPO
2138EYA1C0423903Low intelligence0.2HPO
2138EYA1C0426422Narrow nose0.2HPO
2138EYA1C0432333Abnormal dermatoglyphic pattern0.2HPO
2138EYA1C0541764Delayed bone age0.2HPO
2138EYA1C0542519Congenital absence of kidney0.2HPO
2138EYA1C0546968Fistula of branchial cleft0.2HPO
2138EYA1C0554972Large auricle0.2HPO
2138EYA1C0576860Narrowing of ear canal0.2HPO
2138EYA1C0917816Mental deficiency0.2HPO
2138EYA1C1305420Prominent ear0.2HPO
2138EYA1C1305740Overbite0.2HPO
2138EYA1C1384666hearing impairment0.2HPO
2138EYA1C1398325Absent auditory canals0.2HPO
2138EYA1C1567435Polycystic Kidney - body part0.2HPO
2138EYA1C1619700RENAL ADYSPLASIA0.2HPO
2138EYA1C1835581Large protruding ears0.2HPO
2138EYA1C1836047Long face0.2HPO
2138EYA1C1836542Depressed nasal bridge0.2HPO
2138EYA1C1836678Malformed ossicles0.2HPO
2138EYA1C1837463Narrow face0.2HPO
2138EYA1C1839816Long neck0.2HPO
2138EYA1C1840077Anteverted nostril0.2HPO
2138EYA1C1840305Absent external auditory canals0.2HPO
2138EYA1C1843367Poor school performance0.2HPO
2138EYA1C1845447Cupped ears (finding)0.2HPO
2138EYA1C1846460Malformed pinnae0.2HPO
2138EYA1C1848570Large, floppy ears0.2HPO
2138EYA1C1849121Thin face0.2HPO
2138EYA1C1850189Large pinnae0.2HPO
2138EYA1C1851303Abnormal collecting system0.2HPO
2138EYA1C1855062Large dysplastic ears0.2HPO
2138EYA1C1855285Protruding ears0.2HPO
2138EYA1C1856872Sloping shoulders0.2HPO
2138EYA1C1857078Mondini malformation0.2HPO
2138EYA1C1857079Atretic auditory canal0.2HPO
2138EYA1C1857453Renal hypoplasia/aplasia0.2HPO
2138EYA1C1857456Middle ear malformations0.2HPO
2138EYA1C1860816Preauricular skin tag0.2HPO
2138EYA1C1860838Large prominent ears0.2HPO
2138EYA1C1861403Variable expressivity0.2HPO
2138EYA1C1862050Cochlear malformation0.2HPO
2138EYA1C1862052Gustatory lacrimation0.2HPO
2138EYA1C1864897Cognitive delay0.2HPO
2138EYA1C1866190Atresia of the external auditory canal0.2HPO
2138EYA1C1866231Full cheeks0.2HPO
2138EYA1C1866862Highly variable severity0.2HPO
2138EYA1C2676973Bulbous internal auditory canal0.2HPO
2138EYA1C2676974Hypoplastic cochlea0.2HPO
2138EYA1C2748653Chubby cheeks0.2HPO
2138EYA1C2931416Fara Chlupackova syndrome0.2ORPHANET
2138EYA1C2981150Uranostaphyloschisis0.2HPO
2138EYA1C3494422Retrognathia0.2HPO
2138EYA1C3550546Depressed nasal root/bridge0.2HPO
2138EYA1C3714756Intellectual Disability0.2HPO
2138EYA1C3806443Puffy cheeks0.2HPO
2138EYA1C0265780Congenital absence of lung0.08RGD
2138EYA1C0016842Congenital pectus excavatum0.00273291246481375LHGDN
2138EYA1C0006272Bronchiolitis Obliterans0.0010989071368524BEFREE
2138EYA1C0006142Malignant neoplasm of breast0.0008241803526393BEFREE
2138EYA1C0009691Congenital cataract0.0008241803526393BEFREE
2138EYA1C0596263Carcinogenesis0.0008241803526393BEFREE
2138EYA1C0678222Breast Carcinoma0.0008241803526393BEFREE
2138EYA1C4048228Congenital anomaly of anterior segment of eye0.0005494535684262BEFREE
2138EYA1C3899989Autosomal Dominant Disorder0.0002747267842131BEFREE
2138EYA1C0000846Agenesis0.0002747267842131BEFREE
2138EYA1C0003467Anxiety0.0002747267842131BEFREE
2138EYA1C0003469Anxiety Disorders0.0002747267842131BEFREE
2138EYA1C0006012Borderline Personality Disorder0.0002747267842131BEFREE
2138EYA1C0009207Cockayne Syndrome0.0002747267842131BEFREE
2138EYA1C0011570Mental Depression0.0002747267842131BEFREE
2138EYA1C0011581Depressive disorder0.0002747267842131BEFREE
2138EYA1C0012236DiGeorge Syndrome0.0002747267842131BEFREE
2138EYA1C0013261Duane Retraction Syndrome0.0002747267842131BEFREE
2138EYA1C0020255Hydrocephalus0.0002747267842131BEFREE
2138EYA1C0025149Medulloblastoma0.0002747267842131BEFREE
2138EYA1C0027708Nephroblastoma0.0002747267842131BEFREE
2138EYA1C0036572Seizures0.0002747267842131BEFREE
2138EYA1C0221365Double ureter0.0002747267842131BEFREE
2138EYA1C0265246Townes syndrome0.0002747267842131BEFREE
2138EYA1C0266225Persistent cloaca0.0002747267842131BEFREE
2138EYA1C0266292Congenital anomaly of the kidney0.0002747267842131BEFREE
2138EYA1C0431693Renal cysts and diabetes syndrome0.0002747267842131BEFREE
2138EYA1C0848558Hypospadias0.0002747267842131BEFREE
2138EYA1C1458155Mammary Neoplasms0.0002747267842131BEFREE
2138EYA1C1691215Penile hypospadias0.0002747267842131BEFREE
2138EYA1C1852759Papillorenal syndrome0.0002747267842131BEFREE
2138EYA1C3642346Luminal B Breast Carcinoma0.0002747267842131BEFREE