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

GeneID Gene_Symbol DisGeNet_diseaseID Disease_name DisGeNet score DisGeNet_sourceDB
2263FGFR2C1852406Cutis Gyrata Syndrome of Beare And Stevenson0.682197814273705BEFREE;CTD_human;MGD;ORPHANET;UNIPROT
2263FGFR2C0795998JACKSON-WEISS SYNDROME0.601373633921066BEFREE;CTD_human;ORPHANET;UNIPROT
2263FGFR2C2936791Antley-Bixler Syndrome, Autosomal Dominant0.601098907136852BEFREE;CTD_human;ORPHANET;UNIPROT
2263FGFR2C0265269Lacrimoauriculodentodigital syndrome0.600549453568426BEFREE;CTD_human;ORPHANET;UNIPROT
2263FGFR2C1865070SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION0.6CTD_human;ORPHANET;UNIPROT
2263FGFR2C0001193Apert syndrome0.495659426700147BEFREE;MGD;ORPHANET;UNIPROT
2263FGFR2C2931196Craniofacial dysostosis type 10.492912158858016BEFREE;MGD;ORPHANET;UNIPROT
2263FGFR2C0010278Craniosynostosis0.440456762107693BEFREE;CTD_human;GAD;HPO;LHGDN
2263FGFR2C0010273Craniofacial Dysostosis0.415919798107043BEFREE;CTD_human;HPO;LHGDN
2263FGFR2C0008925Cleft Palate0.400824180352639BEFREE;CTD_human;HPO
2263FGFR2C3281247BENT BONE DYSPLASIA SYNDROME0.400274726784213BEFREE;ORPHANET;UNIPROT
2263FGFR2C3714756Intellectual Disability0.400274726784213BEFREE;CTD_human;HPO
2263FGFR2C1450010Plagiocephaly, Nonsynostotic0.4CTD_human;HPO
2263FGFR2C0220658Pfeiffer Syndrome0.29229719275496BEFREE;GAD;MGD;UNIPROT
2263FGFR2C0678222Breast Carcinoma0.230769399831867BEFREE;HPO
2263FGFR2C1458155Mammary Neoplasms0.226742869299716BEFREE;CTD_human;GAD;LHGDN
2263FGFR2C1510455Acrocephalosyndactylia0.22186329971851CTD_human;LHGDN
2263FGFR2C0699791Stomach Carcinoma0.210989071368524BEFREE;HPO
2263FGFR2C0039075Syndactyly0.205480180306945BEFREE;HPO;LHGDN
2263FGFR2C0038356Stomach Neoplasms0.205465824929628CTD_human;LHGDN
2263FGFR2C0023890Liver Cirrhosis0.203007639249027BEFREE;CTD_human;LHGDN
2263FGFR2C0036341Schizophrenia0.202956482091714BEFREE;GAD;PSYGENET
2263FGFR2C0020538Hypertensive disease0.202407028523288GAD;HPO
2263FGFR2C0175699Saethre-Chotzen Syndrome0.201098907136852BEFREE;ORPHANET
2263FGFR2C0015300Exophthalmos0.200824180352639BEFREE;HPO
2263FGFR2C0206698Cholangiocarcinoma0.200824180352639BEFREE;CTD_human
2263FGFR2C2981150Uranostaphyloschisis0.200824180352639BEFREE;HPO
2263FGFR2C0038379Strabismus0.200549453568426BEFREE;HPO
2263FGFR2C0235942Skull malformation0.200549453568426BEFREE;HPO
2263FGFR2C0376634Craniofacial Abnormalities0.200549453568426BEFREE;CTD_human
2263FGFR2C0542519Congenital absence of kidney0.200274726784213BEFREE;HPO
2263FGFR2C0557874Global developmental delay0.200274726784213BEFREE;HPO
2263FGFR2C0018798Congenital Heart Defects0.200274726784213BEFREE;HPO
2263FGFR2C0018818Ventricular Septal Defects0.200274726784213BEFREE;HPO
2263FGFR2C0020255Hydrocephalus0.200274726784213BEFREE;HPO
2263FGFR2C0750929Arnold-Chiari Malformation, Type I0.200274726784213BEFREE;HPO
2263FGFR2C1833340Synostotic Posterior Plagiocephaly0.200274726784213BEFREE;HPO
2263FGFR2C0152021Congenital heart disease0.200274726784213BEFREE;HPO
2263FGFR2C1856266Coronal craniosynostosis0.200274726784213BEFREE;HPO
2263FGFR2C0265529Plagiocephaly0.200274726784213BEFREE;HPO
2263FGFR2C0265886Overriding aorta0.200274726784213BEFREE;HPO
2263FGFR2C2930865Ramer Ladda syndrome0.200274726784213BEFREE;HPO
2263FGFR2C0000889Acanthosis Nigricans0.200274726784213BEFREE;HPO
2263FGFR2C0345354Radial polydactyly0.200274726784213BEFREE;HPO
2263FGFR2C0005586Bipolar Disorder0.200274726784213BEFREE;PSYGENET
2263FGFR2C0409477Ankylosis of the elbow joint0.200274726784213BEFREE;HPO
2263FGFR2C4021164Bicoronal synostosis0.200274726784213BEFREE;HPO
2263FGFR2C0424503Dysmorphic facies0.2HPO
2263FGFR2C4021377Prominent crus of helix0.2HPO
2263FGFR2C0424690Asymmetrical skull0.2HPO
2263FGFR2C4021395Abnormality of the antihelix0.2HPO
2263FGFR2C0426414Small nose0.2HPO
2263FGFR2C4021418Absent proximal phalanx of thumb0.2HPO
2263FGFR2C0426422Narrow nose0.2HPO
2263FGFR2C4021564Hypoplasia of the lacrimal puncta0.2HPO
2263FGFR2C0426790Narrow thorax0.2HPO
2263FGFR2C0426799Congenital hypoplasia of clavicle0.2HPO
2263FGFR2C4021627Bilateral triphalangeal thumbs0.2HPO
2263FGFR2C0426891Broad thumbs0.2HPO
2263FGFR2C4021723Short middle phalanx of toe0.2HPO
2263FGFR2C0431371Absence of septum pellucidum0.2HPO
2263FGFR2C4021815Abnormality of the palate0.2HPO
2263FGFR2C0431483Simple ear0.2HPO
2263FGFR2C4021977Visceral angiomatosis0.2HPO
2263FGFR2C0008297Choanal Atresia0.2HPO
2263FGFR2C0432040Simple syndactyly of toes, first web space0.2HPO
2263FGFR2C4023383Narrow internal auditory canal0.2HPO
2263FGFR2C0432055Simple syndactyly of fingers - first web0.2HPO
2263FGFR2C4023386Morphological abnormality of the semicircular canal0.2HPO
2263FGFR2C0432123Interparietal craniosynostosis0.2HPO
2263FGFR2C4023454Metopic depression0.2HPO
2263FGFR2C4024202Reduced number of teeth0.2HPO
2263FGFR2C0008924Cleft Lip0.2CTD_human
2263FGFR2C4024215Aplasia of the parotid gland0.2HPO
2263FGFR2C4024345Radial deviation of the 3rd finger0.2HPO
2263FGFR2C0456132Large fontanelle0.2HPO
2263FGFR2C4024730Calcaneonavicular fusion0.2HPO
2263FGFR2C4024822Lacrimal gland aplasia0.2HPO
2263FGFR2C0009763Conjunctivitis0.2HPO
2263FGFR2C0476273Respiratory distress0.2HPO
2263FGFR2C4025301Cervical C5/C6 vertebrae fusion0.2HPO
2263FGFR2C0010043Corneal Ulcer0.2HPO
2263FGFR2C4025750Abnormality of the nasopharynx0.2HPO
2263FGFR2C0497247Increase in blood pressure0.2HPO
2263FGFR2C4025751Abnormality of the pancreas0.2HPO
2263FGFR2C4025835Abnormality of the nasolacrimal system0.2HPO
2263FGFR2C0010417Cryptorchidism0.2HPO
2263FGFR2C4025860Hearing abnormality0.2HPO
2263FGFR2C0010930Dacryocystitis0.2HPO
2263FGFR2C0544886Somatic mutation0.2HPO
2263FGFR2C4048798Night blindness, congenital stationary, complete0.2HPO
2263FGFR2C0011053Deafness0.2HPO
2263FGFR2C4049796Abnormality of cardiovascular system morphology0.2HPO
2263FGFR2C0011334Dental caries0.2HPO
2263FGFR2C0546297Hallux Varus0.2HPO
2263FGFR2C4072820Large bregma sutures0.2HPO
2263FGFR2C0011351Dental Enamel Hypoplasia0.2HPO
2263FGFR2C4072821Large, late-closing fontanelle0.2HPO
2263FGFR2C0011570Mental Depression0.2PSYGENET
2263FGFR2C4072822Wide bregma sutures0.2HPO
2263FGFR2C0011581Depressive disorder0.2PSYGENET
2263FGFR2C0554972Large auricle0.2HPO
2263FGFR2C4072823Broad cranium shape0.2HPO
2263FGFR2C0011818Dextraposition of aorta0.2HPO
2263FGFR2C4072824Wide skull shape0.2HPO
2263FGFR2C0566899Small labia majora0.2HPO
2263FGFR2C4072830Asymmetry of the posterior cranium0.2HPO
2263FGFR2C0575802Small hand0.2HPO
2263FGFR2C4072832Distortion of face0.2HPO
2263FGFR2C0576860Narrowing of ear canal0.2HPO
2263FGFR2C4072833Funny looking face0.2HPO
2263FGFR2C0584837Choanal stenosis0.2HPO
2263FGFR2C4072879Small cheekbone0.2HPO
2263FGFR2C0014170Endometrial Neoplasms0.2CTD_human
2263FGFR2C4073134Abnormality of the periosteum0.2HPO
2263FGFR2C4082168Partial duplication of thumb phalanx0.2HPO
2263FGFR2C0014544Epilepsy0.2HPO
2263FGFR2C4082243Maxillary retrognathia0.2HPO
2263FGFR2C0014850Esophageal Atresia0.2HPO
2263FGFR2C4083050Agenesis of teeth0.2HPO
2263FGFR2C4083076Increased head circumference0.2HPO
2263FGFR2C4230640Convex nasal bridge0.2HPO
2263FGFR2C0017566Gingival Hyperplasia0.2HPO
2263FGFR2C0685381Congenital hypoplasia of radius0.2HPO
2263FGFR2C4255213Increased size of skull0.2HPO
2263FGFR2C0017567Gingival Hypertrophy0.2HPO
2263FGFR2C0685409Congenital Camptodactyly0.2HPO
2263FGFR2C4280269Noncancerous mole0.2HPO
2263FGFR2C0685678Incomplete ossification of pubis0.2HPO
2263FGFR2C4280320Hypotrophic midface0.2HPO
2263FGFR2C4280321Decreased projection of midface0.2HPO
2263FGFR2C0018536Hallux Valgus0.2HPO
2263FGFR2C4280341Pointed front tooth0.2HPO
2263FGFR2C0018553Hamartoma Syndrome, Multiple0.2CTD_human
2263FGFR2C4280342Peg shaped front tooth0.2HPO
2263FGFR2C0018772Hearing Loss, Partial0.2HPO
2263FGFR2C4280368Hypotrophic cheekbone0.2HPO
2263FGFR2C0018777Conductive hearing loss0.2HPO
2263FGFR2C4280369Flattening of the zygomatic bone0.2HPO
2263FGFR2C4280370Depressed cheekbone0.2HPO
2263FGFR2C0702166Acne0.2HPO
2263FGFR2C4280456Dysplasia of tooth enamel0.2HPO
2263FGFR2C0018817Atrial Septal Defects0.2HPO
2263FGFR2C4280457Defective enamel matrix0.2HPO
2263FGFR2C0740852Upper airway obstruction0.2HPO
2263FGFR2C4280495Concave bridge of nose0.2HPO
2263FGFR2C0019572Hirsutism0.2HPO
2263FGFR2C4280538Curvature of little finger0.2HPO
2263FGFR2C0743359ear infection chronic0.2HPO
2263FGFR2C4280562Malformation of skull shape0.2HPO
2263FGFR2C0746926Multiple, subcutaneous nodules0.2HPO
2263FGFR2C4280563Abnormality of skull shape0.2HPO
2263FGFR2C0747078Generalized osteopenia0.2HPO
2263FGFR2C4280564Cloverleaf cranium shape0.2HPO
2263FGFR2C0020295Hydronephrosis0.2HPO
2263FGFR2C4280597Rhomboid shaped head0.2HPO
2263FGFR2C0020302Hydrophthalmos0.2HPO
2263FGFR2C4280598Flattening of head0.2HPO
2263FGFR2C4280613Angle class 3 malocclusion0.2HPO
2263FGFR2C0020534Orbital separation excessive0.2HPO
2263FGFR2C4280614Angle class 2 malocclusion0.2HPO
2263FGFR2C4280617Tooth mass arch size discrepancy0.2HPO
2263FGFR2C0020608Hypodontia0.2HPO
2263FGFR2C4280618Inadequate arch length for tooth size0.2HPO
2263FGFR2C4280623Rotting teeth0.2HPO
2263FGFR2C4280640Retrusion of upper jaw bones0.2HPO
2263FGFR2C0857379Auricular malformation0.2HPO
2263FGFR2C4280641Hypotrophic maxilla0.2HPO
2263FGFR2C0022596Palmoplantar Keratosis0.2HPO
2263FGFR2C0917816Mental deficiency0.2HPO
2263FGFR2C4280642Deficiency of upper jaw bones0.2HPO
2263FGFR2C0022906Lacrimal Duct Obstruction0.2HPO
2263FGFR2C4280643Decreased projection of maxilla0.2HPO
2263FGFR2C0948060Iridocele0.2HPO
2263FGFR2C4280644Increased size of mandible0.2HPO
2263FGFR2C0948187Tracheomalacia0.2HPO
2263FGFR2C4280645Hypertrophy of lower jaw0.2HPO
2263FGFR2C4280651Hypotrophic malar bone0.2HPO
2263FGFR2C4280653Turridolichocephaly0.2HPO
2263FGFR2C4280654Narrow skull shape0.2HPO
2263FGFR2C0024003Lordosis0.2HPO
2263FGFR2C4280655Narrow head shape0.2HPO
2263FGFR2C0024121Lung Neoplasms0.2CTD_human
2263FGFR2C1167712Corneal diameter increased0.2HPO
2263FGFR2C4280656Narrow cranium shape0.2HPO
2263FGFR2C4280663Increased size of cranium0.2HPO
2263FGFR2C0024636Malocclusion0.2HPO
2263FGFR2C4280664Big calvaria0.2HPO
2263FGFR2C4280674Agenesis of parotid duct0.2HPO
2263FGFR2C1281931Obstruction of nasolacrimal duct0.2HPO
2263FGFR2C4280807Flattening of cranial vault0.2HPO
2263FGFR2C0025362Mental Retardation0.2HPO
2263FGFR2C1292120Extramedullary erythropoiesis0.2HPO
2263FGFR2C0025990Micrognathism0.2HPO
2263FGFR2C1306122Oguchi disease0.2HPO
2263FGFR2C0026106Mild Mental Retardation0.2HPO
2263FGFR2C1306710Facial asymmetry0.2HPO
2263FGFR2C0026351Moderate mental retardation (I.Q. 35-49)0.2HPO
2263FGFR2C1317785Tooth size discrepancy0.2HPO
2263FGFR2C0026613Motor Skills Disorders0.2CTD_human
2263FGFR2C1321884Atresia of vagina0.2HPO
2263FGFR2C0027443Natal Teeth0.2HPO
2263FGFR2C0027719Nephrosclerosis0.2HPO
2263FGFR2C0027962Melanocytic nevus0.2HPO
2263FGFR2C1384666hearing impairment0.2HPO
2263FGFR2C0029124Optic Atrophy0.2HPO
2263FGFR2C1385263facial deformity0.2HPO
2263FGFR2C1394030Coronal hypospadias0.2HPO
2263FGFR2C1398312Narrow palate0.2HPO
2263FGFR2C0029453Osteopenia0.2HPO
2263FGFR2C1398325Absent auditory canals0.2HPO
2263FGFR2C1400252Parotid gland hypoplasia0.2HPO
2263FGFR2C1405984Absent radius0.2HPO
2263FGFR2C0030044Acrocephaly0.2HPO
2263FGFR2C0030286Pancreatic Diseases0.2HPO
2263FGFR2C0033975Psychotic Disorders0.2PSYGENET
2263FGFR2C0034194Pyloric Stenosis0.2HPO
2263FGFR2C1833762Soft calvaria0.2HPO
2263FGFR2C0036572Seizures0.2HPO
2263FGFR2C1835581Large protruding ears0.2HPO
2263FGFR2C0037268Skin Abnormalities0.2CTD_human
2263FGFR2C1836193Synostosis of carpal bones0.2HPO
2263FGFR2C0037274Dermatologic disorders0.2CTD_human
2263FGFR2C1836542Depressed nasal bridge0.2HPO
2263FGFR2C0037315Sleep Apnea Syndromes0.2HPO
2263FGFR2C1837532Fused labia minora0.2HPO
2263FGFR2C1837760Prominent eyes0.2HPO
2263FGFR2C1838608Radial aplasia0.2HPO
2263FGFR2C1838705Anteriorly placed anus0.2HPO
2263FGFR2C1839798Long nose0.2HPO
2263FGFR2C1840077Anteverted nostril0.2HPO
2263FGFR2C1840087Radial ray hypoplasia0.2HPO
2263FGFR2C1840305Absent external auditory canals0.2HPO
2263FGFR2C1842083Abnormality of the ribs0.2HPO
2263FGFR2C1842231Broad metatarsals0.2HPO
2263FGFR2C1842366Low anterior hairline0.2HPO
2263FGFR2C1843108Short hands0.2HPO
2263FGFR2C0040427Tooth Abnormalities0.2CTD_human
2263FGFR2C1843367Poor school performance0.2HPO
2263FGFR2C0040433Tooth Crowding0.2HPO
2263FGFR2C1845447Cupped ears (finding)0.2HPO
2263FGFR2C1846460Malformed pinnae0.2HPO
2263FGFR2C1846474Thenar hypoplasia0.2HPO
2263FGFR2C0042798Low Vision0.2HPO
2263FGFR2C1848103Narrow pelvis0.2HPO
2263FGFR2C0043352Xerostomia0.2HPO
2263FGFR2C1848490Protruding eyes0.2HPO
2263FGFR2C0078981Arachnoid Cysts0.2HPO
2263FGFR2C1848570Large, floppy ears0.2HPO
2263FGFR2C0080178Spina Bifida0.2CTD_human
2263FGFR2C1848673Hypoplastic feet0.2HPO
2263FGFR2C1849020Short metatarsal0.2HPO
2263FGFR2C1849089Broad forehead0.2HPO
2263FGFR2C1849227CLEFT CHIN0.2HPO
2263FGFR2C1849314Absence of radius and ulna0.2HPO
2263FGFR2C1849538Delayed eruption of primary teeth0.2HPO
2263FGFR2C1850049Bilateral fifth finger clinodactyly0.2HPO
2263FGFR2C0151740Intracranial Hypertension0.2HPO
2263FGFR2C1850161Widened metatarsal shaft0.2HPO
2263FGFR2C0151811Subcutaneous nodule0.2HPO
2263FGFR2C1850189Large pinnae0.2HPO
2263FGFR2C1851792Aplasia/Hypoplasia of the earlobes0.2HPO
2263FGFR2C1851797Cutis gyrata of palms and soles0.2HPO
2263FGFR2C1851854Thin dental enamel0.2HPO
2263FGFR2C0152421Macrotia0.2HPO
2263FGFR2C1852407Prominent scrotal raphe0.2HPO
2263FGFR2C0152423Congenital small ears0.2HPO
2263FGFR2C1852411Preauricular skin furrows0.2HPO
2263FGFR2C1852464Cervical vertebral abnormalities0.2HPO
2263FGFR2C1853241Flat face0.2HPO
2263FGFR2C1853242Midface retrusion0.2HPO
2263FGFR2C1854113Prominent nasal bridge0.2HPO
2263FGFR2C0155119Recurrent erosion of cornea0.2HPO
2263FGFR2C1854114Short nose0.2HPO
2263FGFR2C0155552Hearing Loss, Mixed Conductive-Sensorineural0.2HPO
2263FGFR2C1855062Large dysplastic ears0.2HPO
2263FGFR2C0156394Hypertrophy of clitoris0.2HPO
2263FGFR2C1856136Peg-shaped incisors0.2HPO
2263FGFR2C0158761Radioulnar Synostosis0.2HPO
2263FGFR2C0162298Joint stiffness0.2HPO
2263FGFR2C1856714Furrowed palms and soles0.2HPO
2263FGFR2C1856912Disproportionately short middle phalanges0.2HPO
2263FGFR2C0175754Agenesis of corpus callosum0.2HPO
2263FGFR2C1857079Atretic auditory canal0.2HPO
2263FGFR2C1857108Decreased joint mobility0.2HPO
2263FGFR2C1857130Hypoplastic mandible condyle0.2HPO
2263FGFR2C1857353Posterior fossa cyst0.2HPO
2263FGFR2C1857484Brachyturricephaly0.2HPO
2263FGFR2C1857485Flat forehead0.2HPO
2263FGFR2C1857486Low-set, posteriorly rotated ears0.2HPO
2263FGFR2C0206762Limb Deformities, Congenital0.2CTD_human
2263FGFR2C1858036Periorbital fullness0.2HPO
2263FGFR2C1858085Malar flattening0.2HPO
2263FGFR2C1858569Absence of Stensen duct0.2HPO
2263FGFR2C1859447Hypoplastic ischia0.2HPO
2263FGFR2C1859461Femoral bowing0.2HPO
2263FGFR2C0221352Syndactyly of fingers0.2HPO
2263FGFR2C1860050Cloverleaf skull0.2HPO
2263FGFR2C0221354Frontal bossing0.2HPO
2263FGFR2C1860614ULNAR HYPOPLASIA0.2HPO
2263FGFR2C0221355Macrocephaly0.2HPO
2263FGFR2C1860838Large prominent ears0.2HPO
2263FGFR2C0221356Brachycephaly0.2HPO
2263FGFR2C1861403Variable expressivity0.2HPO
2263FGFR2C0221357Brachydactyly0.2HPO
2263FGFR2C1861869Underdeveloped supraorbital ridges0.2HPO
2263FGFR2C0221358Long narrow head0.2HPO
2263FGFR2C1862095Bilateral single transverse palmar creases0.2HPO
2263FGFR2C1862132Short ulnae0.2HPO
2263FGFR2C1862425Prominent globes0.2HPO
2263FGFR2C1863200Hypoplastic lacrimal gland0.2HPO
2263FGFR2C1863360Radiohumeral synostosis of elbow0.2HPO
2263FGFR2C1863363Cartilaginous trachea0.2HPO
2263FGFR2C0239174Late tooth eruption0.2HPO
2263FGFR2C1863382Absent first metatarsal0.2HPO
2263FGFR2C0239234Low set ears0.2HPO
2263FGFR2C1863392Limbic malformations0.2HPO
2263FGFR2C1863395Acrobrachycephaly0.2HPO
2263FGFR2C0239676High forehead0.2HPO
2263FGFR2C1863402Broad distal phalanx (thumb)0.2HPO
2263FGFR2C1863403Broad distal hallux0.2HPO
2263FGFR2C0240295Mandibular hypoplasia0.2HPO
2263FGFR2C1863406Anomalous tracheal cartilage0.2HPO
2263FGFR2C0240310Hypoplasia of the maxilla0.2HPO
2263FGFR2C1864156Conjunctivitis, recurrent0.2HPO
2263FGFR2C0240538Convex nasal ridge0.2HPO
2263FGFR2C0240635Byzanthine arch palate0.2HPO
2263FGFR2C1864897Cognitive delay0.2HPO
2263FGFR2C0240912Vertical Talus0.2HPO
2263FGFR2C1865014Long philtrum0.2HPO
2263FGFR2C0241074Skin hyperelastic0.2HPO
2263FGFR2C1865186Bell-shaped thorax0.2HPO
2263FGFR2C1865244Shallow orbits0.2HPO
2263FGFR2C0262361abnormal growth0.2HPO
2263FGFR2C1865304Overfolding of the superior helices0.2HPO
2263FGFR2C1865847Ulnar bowing0.2HPO
2263FGFR2C0263523Micronychia (disorder)0.2HPO
2263FGFR2C1865992Short hallux0.2HPO
2263FGFR2C1866134Wide anterior fontanel0.2HPO
2263FGFR2C0264303Laryngomalacia0.2HPO
2263FGFR2C1866190Atresia of the external auditory canal0.2HPO
2263FGFR2C0264353Bronchomalacia0.2HPO
2263FGFR2C1866862Highly variable severity0.2HPO
2263FGFR2C1867060Lacrimal Puncta, Absence of0.2HPO
2263FGFR2C1867103Limited elbow extension0.2HPO
2263FGFR2C1867131Broad hallux0.2HPO
2263FGFR2C0265660Syndactyly of the toes0.2HPO
2263FGFR2C1968574Hypoplastic lacrimal duct0.2HPO
2263FGFR2C0266061Open Bite0.2HPO
2263FGFR2C2227134mandibular excess (physical finding)0.2HPO
2263FGFR2C0266122Cleft uvula0.2HPO
2263FGFR2C0266231Ectopic anus0.2HPO
2263FGFR2C2350233Antley-Bixler Syndrome Phenotype0.2CTD_human
2263FGFR2C0266292Congenital anomaly of the kidney0.2HPO
2263FGFR2C2613439Extramedullary Hematopoiesis (disorder)0.2HPO
2263FGFR2C0266470Cerebellar Hypoplasia0.2HPO
2263FGFR2C2673410Small midface0.2HPO
2263FGFR2C0266617Congenital anomaly of face0.2HPO
2263FGFR2C2674608Feeding difficulties in infancy0.2HPO
2263FGFR2C2677762Tall forehead0.2HPO
2263FGFR2C0271441Chronic otitis media0.2HPO
2263FGFR2C0277828Late fontanel closure0.2HPO
2263FGFR2C2931888Pfeiffer type acrocephalosyndactyly0.2CTD_human
2263FGFR2C2936786Aqueductal Stenosis0.2HPO
2263FGFR2C3150931Steep acetabular roof0.2HPO
2263FGFR2C0302501Mandibular hyperplasia0.2HPO
2263FGFR2C3179508Thumb absent or hypoplastic0.2HPO
2263FGFR2C3278923Dilated ventricles (finding)0.2HPO
2263FGFR2C3550546Depressed nasal root/bridge0.2HPO
2263FGFR2C0339535Night blindness, congenital stationary0.2HPO
2263FGFR2C3551052Night blindness, stationary0.2HPO
2263FGFR2C0339789Congenital deafness0.2HPO
2263FGFR2C3552414Thumb deviation0.2HPO
2263FGFR2C0341787Bifid scrotum0.2HPO
2263FGFR2C0344505Alacrima0.2HPO
2263FGFR2C0344509Agenesis of punctum lacrimale0.2HPO
2263FGFR2C3665347Visual Impairment0.2HPO
2263FGFR2C0344530Congenital keratoglobus0.2HPO
2263FGFR2C0003090Ankylosis0.2CTD_human
2263FGFR2C0003706Arachnodactyly0.2HPO
2263FGFR2C0003803Arnold Chiari Malformation0.2HPO
2263FGFR2C4020759Pointed incisor0.2HPO
2263FGFR2C0349204Nonorganic psychosis0.2PSYGENET
2263FGFR2C4020777Underdeveloped brows0.2HPO
2263FGFR2C0349588Short stature0.2HPO
2263FGFR2C4020779Absence of the parotid gland0.2HPO
2263FGFR2C4020787Subcoronal hypospadias0.2HPO
2263FGFR2C0376480Gingival Overgrowth0.2HPO
2263FGFR2C4020847Abnormality of pelvic girdle bone morphology0.2HPO
2263FGFR2C0005745Blepharoptosis0.2HPO
2263FGFR2C4020875Mental and motor retardation0.2HPO
2263FGFR2C0005747Blepharospasm0.2HPO
2263FGFR2C0395837Stenosis of external auditory canal0.2HPO
2263FGFR2C4020876Dull intelligence0.2HPO
2263FGFR2C0399526Class III malocclusion0.2HPO
2263FGFR2C4020888Epithelial corneal erosions0.2HPO
2263FGFR2C4020892Capuchin ears0.2HPO
2263FGFR2C4020899Autosomal recessive predisposition0.2HPO
2263FGFR2C0006386Bunion0.2HPO
2263FGFR2C0409348Flexion contracture of proximal interphalangeal joint0.2HPO
2263FGFR2C4021161Multiple suture craniosynostosis0.2HPO
2263FGFR2C4021242Hypoplasia of the zygomatic bone0.2HPO
2263FGFR2C0423110Downward slant of palpebral fissure0.2HPO
2263FGFR2C4021254Cutaneous finger syndactyly0.2HPO
2263FGFR2C0423113Telecanthus0.2HPO
2263FGFR2C4021343Broad hallux phalanx0.2HPO
2263FGFR2C0423221Globe of eye large0.2HPO
2263FGFR2C4021360Partial duplication of the distal phalanx of the 3rd finger0.2HPO
2263FGFR2C0423903Low intelligence0.2HPO
2263FGFR2C4021365Partial duplication of the distal phalanx of the 2nd finger0.2HPO
2263FGFR2C0006142Malignant neoplasm of breast0.105805712552962BEFREE;GAD
2263FGFR2C0024623Malignant neoplasm of stomach0.0068681696053275BEFREE
2263FGFR2C0001418Adenocarcinoma0.0065647320664799BEFREE;LHGDN
2263FGFR2C1140680Malignant neoplasm of ovary0.0061876909676415BEFREE;GAD
2263FGFR2C0007137Squamous cell carcinoma0.00596412134074105BEFREE;GAD;LHGDN
2263FGFR2C0025202melanoma0.00596412134074105BEFREE;GAD;LHGDN
2263FGFR2C0030297Pancreatic Neoplasm0.00513994098810175GAD;LHGDN
2263FGFR2C0476089Endometrial Carcinoma0.0046703553316227BEFREE
2263FGFR2C0919267ovarian neoplasm0.00328236603323995BEFREE;LHGDN
2263FGFR2C1883486Uterine Corpus Cancer0.0030219946263441BEFREE
2263FGFR2C0007103Malignant neoplasm of endometrium0.0030219946263441BEFREE
2263FGFR2C0008479Chondrosarcoma0.00300763924902685BEFREE;LHGDN
2263FGFR2C0014175Endometriosis0.00300763924902685BEFREE;LHGDN
2263FGFR2C0029463Osteosarcoma0.00300763924902685BEFREE;LHGDN
2263FGFR2C0596263Carcinogenesis0.002747267842131BEFREE
2263FGFR2C0009404Colorectal Neoplasms0.00273291246481375LHGDN
2263FGFR2C0013990Pathological accumulation of air in tissues0.00273291246481375LHGDN
2263FGFR2C0014116Endocardial Cushion Defects0.00273291246481375LHGDN
2263FGFR2C0846967Acanthoma0.00273291246481375LHGDN
2263FGFR2C0036220Kaposi Sarcoma0.00273291246481375LHGDN
2263FGFR2C0085413Polycystic Kidney, Autosomal Dominant0.00273291246481375LHGDN
2263FGFR2C0152427Polydactyly0.00273291246481375LHGDN
2263FGFR2C0206644Histiocytoma, Benign Fibrous0.00273291246481375LHGDN
2263FGFR2C0848558Hypospadias0.0026817553075011BEFREE;GAD
2263FGFR2C1269683Major Depressive Disorder0.0026817553075011BEFREE;GAD
2263FGFR2C0037286Skin Neoplasms0.0026817553075011BEFREE;GAD
2263FGFR2C0007117Basal cell carcinoma0.002407028523288GAD
2263FGFR2C0520679Sleep Apnea, Obstructive0.002407028523288GAD
2263FGFR2C0553723Squamous cell carcinoma of skin0.002407028523288GAD
2263FGFR2C0020523Immediate hypersensitivity0.002407028523288GAD
2263FGFR2C0024667Animal Mammary Neoplasms0.002407028523288GAD
2263FGFR2C0040336Tobacco Use Disorder0.002407028523288GAD
2263FGFR2C0085129Bronchial Hyperreactivity0.002407028523288GAD
2263FGFR2C0002395Alzheimer's Disease0.002407028523288GAD
2263FGFR2C0600139Prostate carcinoma0.0019230874894917BEFREE
2263FGFR2C0027627Neoplasm Metastasis0.0019230874894917BEFREE
2263FGFR2C0376358Malignant neoplasm of prostate0.0019230874894917BEFREE
2263FGFR2C0549473Thyroid carcinoma0.0016483607052786BEFREE
2263FGFR2C0178874Tumor Progression0.0016483607052786BEFREE
2263FGFR2C0029925Ovarian Carcinoma0.0013736339210655BEFREE
2263FGFR2C0007115Malignant neoplasm of thyroid0.0013736339210655BEFREE
2263FGFR2C0007131Non-Small Cell Lung Carcinoma0.0010989071368524BEFREE
2263FGFR2C0699885Carcinoma of bladder0.0010989071368524BEFREE
2263FGFR2C0235974Pancreatic carcinoma0.0010989071368524BEFREE
2263FGFR2C0000768Congenital Abnormality0.0010989071368524BEFREE
2263FGFR2C0345905Intrahepatic Cholangiocarcinoma0.0010989071368524BEFREE
2263FGFR2C0346647Malignant neoplasm of pancreas0.0010989071368524BEFREE
2263FGFR2C0494165Secondary malignant neoplasm of liver0.0008241803526393BEFREE
2263FGFR2C1335302Pancreatic Ductal Adenocarcinoma0.0008241803526393BEFREE
2263FGFR2C1336076Sporadic Breast Carcinoma0.0008241803526393BEFREE
2263FGFR2C1527249Colorectal Cancer0.0008241803526393BEFREE
2263FGFR2C0149782Squamous cell carcinoma of lung0.0008241803526393BEFREE
2263FGFR2C0238033Carcinoma of Male Breast0.0008241803526393BEFREE
2263FGFR2C0242787Malignant neoplasm of male breast0.0008241803526393BEFREE
2263FGFR2C2239176Liver carcinoma0.0008241803526393BEFREE
2263FGFR2C0005684Malignant neoplasm of urinary bladder0.0008241803526393BEFREE
2263FGFR2C0005695Bladder Neoplasm0.0008241803526393BEFREE
2263FGFR2C0007135Adenocarcinoma, Scirrhous0.0005494535684262BEFREE
2263FGFR2C0007138Carcinoma, Transitional Cell0.0005494535684262BEFREE
2263FGFR2C0007847Malignant tumor of cervix0.0005494535684262BEFREE
2263FGFR2C0009402Colorectal Carcinoma0.0005494535684262BEFREE
2263FGFR2C4048328cervical cancer0.0005494535684262BEFREE
2263FGFR2C0013336Dwarfism0.0005494535684262BEFREE
2263FGFR2C0684249Carcinoma of lung0.0005494535684262BEFREE
2263FGFR2C0017636Glioblastoma0.0005494535684262BEFREE
2263FGFR2C0686619Secondary malignant neoplasm of lymph node0.0005494535684262BEFREE
2263FGFR2C0699790Colon Carcinoma0.0005494535684262BEFREE
2263FGFR2C0019829Hodgkin Disease0.0005494535684262BEFREE
2263FGFR2C0853879Invasive carcinoma of breast0.0005494535684262BEFREE
2263FGFR2C1306460Primary malignant neoplasm of lung0.0005494535684262BEFREE
2263FGFR2C0032002Pituitary Diseases0.0005494535684262BEFREE
2263FGFR2C1704272Benign Prostatic Hyperplasia0.0005494535684262BEFREE
2263FGFR2C0085281Addictive Behavior0.0005494535684262BEFREE
2263FGFR2C0152013Adenocarcinoma of lung (disorder)0.0005494535684262BEFREE
2263FGFR2C0153594Malignant neoplasm of testis0.0005494535684262BEFREE
2263FGFR2C0220668Congenital contractural arachnodactyly0.0005494535684262BEFREE
2263FGFR2C0220724CONSTRICTING BANDS, CONGENITAL0.0005494535684262BEFREE
2263FGFR2C1860042Antley-Bixler Syndrome with Disordered Steroidogenesis0.0005494535684262BEFREE
2263FGFR2C0235653Malignant neoplasm of female breast0.0005494535684262BEFREE
2263FGFR2C0239337Deformity of limb0.0005494535684262BEFREE
2263FGFR2C0242379Malignant neoplasm of lung0.0005494535684262BEFREE
2263FGFR2C0266184Congenital duodenal obstruction due to malrotation of intestine0.0005494535684262BEFREE
2263FGFR2C0278701Gastric Adenocarcinoma0.0005494535684262BEFREE
2263FGFR2C0279626Squamous cell carcinoma of esophagus0.0005494535684262BEFREE
2263FGFR2C0302592Cervix carcinoma0.0005494535684262BEFREE
2263FGFR2C3539878Triple Negative Breast Neoplasms0.0005494535684262BEFREE
2263FGFR2C0002448Ameloblastoma0.0005494535684262BEFREE
2263FGFR2C0007102Malignant tumor of colon0.0005494535684262BEFREE
2263FGFR2C0007104Female Breast Carcinoma0.0005494535684262BEFREE
2263FGFR2C0007133Carcinoma, Papillary0.0002747267842131BEFREE
2263FGFR2C0007134Renal Cell Carcinoma0.0002747267842131BEFREE
2263FGFR2C4021626Lethal skeletal dysplasia0.0002747267842131BEFREE
2263FGFR2C0007140Carcinosarcoma0.0002747267842131BEFREE
2263FGFR2C0008487Chordoma0.0002747267842131BEFREE
2263FGFR2C0008497Choriocarcinoma0.0002747267842131BEFREE
2263FGFR2C0432124Unicoronal craniosynostosis0.0002747267842131BEFREE
2263FGFR2C0432238Bent bone dysplasia0.0002747267842131BEFREE
2263FGFR2C0432283Osteoglophonic dwarfism0.0002747267842131BEFREE
2263FGFR2C0521158Recurrent tumor0.0002747267842131BEFREE
2263FGFR2C0010674Cystic Fibrosis0.0002747267842131BEFREE
2263FGFR2C0545074Myxoid/Round Cell Liposarcoma0.0002747267842131BEFREE
2263FGFR2C0013069Double Outlet Right Ventricle0.0002747267842131BEFREE
2263FGFR2C0585442Osteosarcoma of bone0.0002747267842131BEFREE
2263FGFR2C0677886Epithelial ovarian cancer0.0002747267842131BEFREE
2263FGFR2C0015230Exanthema0.0002747267842131BEFREE
2263FGFR2C0017638Glioma0.0002747267842131BEFREE
2263FGFR2C0685707Muscular ventricular septum defect0.0002747267842131BEFREE
2263FGFR2C0018790Cardiac Arrest0.0002747267842131BEFREE
2263FGFR2C0700095Central neuroblastoma0.0002747267842131BEFREE
2263FGFR2C0730328Central Serous Chorioretinopathy0.0002747267842131BEFREE
2263FGFR2C0741916Cardiac defects0.0002747267842131BEFREE
2263FGFR2C0020179Huntington Disease0.0002747267842131BEFREE
2263FGFR2C0747845early pregnancy0.0002747267842131BEFREE
2263FGFR2C0814161impaired motor coordination0.0002747267842131BEFREE
2263FGFR2C0848332Spots on skin0.0002747267842131BEFREE
2263FGFR2C0021294Infant, Premature0.0002747267842131BEFREE
2263FGFR2C0021390Inflammatory Bowel Diseases0.0002747267842131BEFREE
2263FGFR2C0022548Keloid0.0002747267842131BEFREE
2263FGFR2C0023418leukemia0.0002747267842131BEFREE
2263FGFR2C0023470Myeloid Leukemia0.0002747267842131BEFREE
2263FGFR2C0023531Leukoplakia0.0002747267842131BEFREE
2263FGFR2C0949541Hurthle Cell Tumor0.0002747267842131BEFREE
2263FGFR2C1096616contralateral breast cancer0.0002747267842131BEFREE
2263FGFR2C0023903Liver neoplasms0.0002747267842131BEFREE
2263FGFR2C1153706Endometrial adenocarcinoma0.0002747267842131BEFREE
2263FGFR2C1168401Squamous cell carcinoma of the head and neck0.0002747267842131BEFREE
2263FGFR2C1265996Large cell neuroendocrine carcinoma0.0002747267842131BEFREE
2263FGFR2C0026277Mixed Salivary Gland Tumor0.0002747267842131BEFREE
2263FGFR2C0027086Myoma0.0002747267842131BEFREE
2263FGFR2C1328504Hormone refractory prostate cancer0.0002747267842131BEFREE
2263FGFR2C1334177Infiltrating Cervical Carcinoma0.0002747267842131BEFREE
2263FGFR2C0027819Neuroblastoma0.0002747267842131BEFREE
2263FGFR2C1368683Epithelioma0.0002747267842131BEFREE
2263FGFR2C0029172Oral Submucous Fibrosis0.0002747267842131BEFREE
2263FGFR2C0029422Osteochondrodysplasias0.0002747267842131BEFREE
2263FGFR2C0032000Pituitary Adenoma0.0002747267842131BEFREE
2263FGFR2C1517658Cervical Keratinizing Squamous Cell Carcinoma0.0002747267842131BEFREE
2263FGFR2C0032019Pituitary Neoplasms0.0002747267842131BEFREE
2263FGFR2C1562113Fleck corneal dystrophy0.0002747267842131BEFREE
2263FGFR2C0033578Prostatic Neoplasms0.0002747267842131BEFREE
2263FGFR2C1623038Cirrhosis0.0002747267842131BEFREE
2263FGFR2C1691215Penile hypospadias0.0002747267842131BEFREE
2263FGFR2C0034065Pulmonary Embolism0.0002747267842131BEFREE
2263FGFR2C1737329Dysmorphism0.0002747267842131BEFREE
2263FGFR2C1837218Cleft palate, isolated0.0002747267842131BEFREE
2263FGFR2C0038358Gastric ulcer0.0002747267842131BEFREE
2263FGFR2C0039093Congenital abnormal Synostosis0.0002747267842131BEFREE
2263FGFR2C0039101synovial sarcoma0.0002747267842131BEFREE
2263FGFR2C0039144Syringomyelia0.0002747267842131BEFREE
2263FGFR2C0039590Testicular Neoplasms0.0002747267842131BEFREE
2263FGFR2C0040034Thrombocytopenia0.0002747267842131BEFREE
2263FGFR2C0040136Thyroid Neoplasm0.0002747267842131BEFREE
2263FGFR2C0042063Urogenital Abnormalities0.0002747267842131BEFREE
2263FGFR2C0042769Virus Diseases0.0002747267842131BEFREE
2263FGFR2C1848587Isolated hypoplasia of the right ventricle0.0002747267842131BEFREE
2263FGFR2C0085750Adenosis of Breast0.0002747267842131BEFREE
2263FGFR2C0151468Thyroid Gland Follicular Adenoma0.0002747267842131BEFREE
2263FGFR2C0151514Atrophic condition of skin0.0002747267842131BEFREE
2263FGFR2C0151846Periosteal Disorder0.0002747267842131BEFREE
2263FGFR2C0152018Esophageal carcinoma0.0002747267842131BEFREE
2263FGFR2C0153690Secondary malignant neoplasm of bone0.0002747267842131BEFREE
2263FGFR2C0154084Stage 0 Breast Carcinoma0.0002747267842131BEFREE
2263FGFR2C0205647Follicular adenoma0.0002747267842131BEFREE
2263FGFR2C0206634Liposarcoma, Myxoid0.0002747267842131BEFREE
2263FGFR2C1857276Trichohepatoenteric Syndrome0.0002747267842131BEFREE
2263FGFR2C0206664Teratocarcinoma0.0002747267842131BEFREE
2263FGFR2C0206708Cervical Intraepithelial Neoplasia0.0002747267842131BEFREE
2263FGFR2C0220620Gastrointestinal Carcinoid Tumor0.0002747267842131BEFREE
2263FGFR2C0220810Congenital defects0.0002747267842131BEFREE
2263FGFR2C0233514Abnormal behavior0.0002747267842131BEFREE
2263FGFR2C0239849Harlequin Fetus0.0002747267842131BEFREE
2263FGFR2C1864436Muenke Syndrome0.0002747267842131BEFREE
2263FGFR2C0262587Parathyroid Adenoma0.0002747267842131BEFREE
2263FGFR2C0263661Disorder of skeletal system0.0002747267842131BEFREE
2263FGFR2C0265534Scaphycephaly0.0002747267842131BEFREE
2263FGFR2C0265610Congenital clinodactyly0.0002747267842131BEFREE
2263FGFR2C1879344Biliary papillomatosis0.0002747267842131BEFREE
2263FGFR2C0265857Uhl anomaly0.0002747267842131BEFREE
2263FGFR2C2145472Urothelial Carcinoma0.0002747267842131BEFREE
2263FGFR2C2348820Triple-Negative Breast Carcinoma0.0002747267842131BEFREE
2263FGFR2C0269102Endometrioma0.0002747267842131BEFREE
2263FGFR2C0278488Carcinoma breast stage IV0.0002747267842131BEFREE
2263FGFR2C0278801Endometrial neoplasm malignant metastatic0.0002747267842131BEFREE
2263FGFR2C0278802Recurrent Endometrial Cancer0.0002747267842131BEFREE
2263FGFR2C2937421Prostatic Hyperplasia0.0002747267842131BEFREE
2263FGFR2C0279563Lobular carcinoma in situ of breast0.0002747267842131BEFREE
2263FGFR2C0332877Congenital premature fusion0.0002747267842131BEFREE
2263FGFR2C0332996Persistent embryonic structure0.0002747267842131BEFREE
2263FGFR2C3495676Anorectal Malformations0.0002747267842131BEFREE
2263FGFR2C0334381Non-infiltrating lobular carcinoma0.0002747267842131BEFREE
2263FGFR2C0000846Agenesis0.0002747267842131BEFREE
2263FGFR2C0334579Anaplastic astrocytoma0.0002747267842131BEFREE
2263FGFR2C0001080Achondroplasia0.0002747267842131BEFREE
2263FGFR2C3642345Luminal A Breast Carcinoma0.0002747267842131BEFREE
2263FGFR2C3642346Luminal B Breast Carcinoma0.0002747267842131BEFREE
2263FGFR2C3811653Experimental Organism Basal Cell Carcinoma0.0002747267842131BEFREE
2263FGFR2C3887505DYSFUNCTION - SKIN DISORDERS0.0002747267842131BEFREE
2263FGFR2C0346153Breast Cancer, Familial0.0002747267842131BEFREE
2263FGFR2C4016282BREAST CANCER, SOMATIC0.0002747267842131BEFREE
2263FGFR2C0004114Astrocytoma0.0002747267842131BEFREE
2263FGFR2C0004936Mental disorders0.0002747267842131BEFREE
2263FGFR2C0006012Borderline Personality Disorder0.0002747267842131BEFREE
2263FGFR2C0403592Chronic rejection of renal transplant0.0002747267842131BEFREE
2263FGFR2C0006287Bronchopulmonary Dysplasia0.0002747267842131BEFREE
2263FGFR2C0406709Hay-Wells syndrome0.0002747267842131BEFREE
2263FGFR2C0410528Skeletal dysplasia0.0002747267842131BEFREE
2263FGFR2C0007113Rectal Carcinoma0.0002747267842131BEFREE
2263FGFR2C0007114Malignant neoplasm of skin0.0002747267842131BEFREE