【佳學(xué)基因檢測(cè)】生殖科分子病理檢測(cè)項(xiàng)目招標(biāo)中關(guān)于FGFR2的問題及答案
基因檢測(cè)的序列名稱：
FGFR2
人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：
2263
人體基因序列數(shù)據(jù)庫中國際交流名稱全稱
fibroblast growth factor receptor 2
中國數(shù)據(jù)庫中基因全稱：
成纖維細(xì)胞生長因子受體2
基因檢測(cè)報(bào)告英文版基因簡介
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
基因突變所影響的基因信息
該基因編碼的蛋白質(zhì)是成纖維細(xì)胞生長因子受體家族的成員，其中氨基酸序列在成員之間以及整個(gè)進(jìn)化過程中高度保守。FGFR家族成員的配體親和力和組織分布彼此不同。全長代表性蛋白由細(xì)胞外區(qū)域組成，該細(xì)胞外區(qū)域由三個(gè)免疫球蛋白樣結(jié)構(gòu)域，單個(gè)疏水性跨膜區(qū)段和細(xì)胞質(zhì)酪氨酸激酶結(jié)構(gòu)域組成。蛋白質(zhì)的細(xì)胞外部分與成纖維細(xì)胞生長因子相互作用，使一系列下游信號(hào)運(yùn)動(dòng)，賊終影響有絲分裂和分化。該特定家族成員是酸性，堿性和/或角質(zhì)形成細(xì)胞生長因子的高親和力受體，具體取決于同工型。該基因的突變與克魯佐綜合癥，普發(fā)綜合癥，顱骨前突，阿珀特綜??
國際國內(nèi)該堿基基因序列的其他英語文字母簡稱：
BBDS, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25
基因解碼對(duì)該基因序列在細(xì)胞核中的染色體所給予的編號(hào)：
該基因序列位于人類第10號(hào)染色體上。
基因解碼對(duì)基因序列的正確定位
該基因序列在GRCh37版本中的起始位置坐標(biāo)為：123237844；結(jié)束位置坐標(biāo)為：123357972。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：121478330；結(jié)束位置坐標(biāo)為：121598656。正確的基因信息定位是基因檢測(cè)和對(duì)檢測(cè)結(jié)果進(jìn)行正確解讀的關(guān)鍵。
佳學(xué)基因解碼對(duì)該基因的功能分類：國際版
CD markers;Enzymes/{ENZYME proteins/Transferases,Kinases/Tyr protein kinases};RAS pathway related proteins
基因解碼對(duì)該基因的功能分類：中文版
CD 標(biāo)記；酶/{酶蛋白/轉(zhuǎn)移酶，激酶/Tyr 蛋白激酶}；RAS 通路相關(guān)蛋白
結(jié)構(gòu)與功能基因解碼所揭示的該基因在細(xì)胞內(nèi)發(fā)揮作用的場所（國際版）：
Vesicles
結(jié)構(gòu)與功能基因解碼所揭示的該基因發(fā)揮作用的細(xì)胞內(nèi)位置（中文版）：
囊泡
該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國際版）：
Abnormality of the periosteum; Acrobrachycephaly; Ankylosis; Apert syndrome; BENT BONE DYSPLASIA SYNDROME; Broad distal hallux; Craniofacial Dysostosis; Cutis Gyrata Syndrome of Beare And Stevenson; Ectopic anus; Incomplete ossification of pubis; Limbic malformations; Metopic depression; Morphological abnormality of the semicircular canal; Preauricular skin furrows; Prominent scrotal raphe; SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION; Steep acetabular roof; Thumb deviation; Abnormality of the nasolacrimal system; Absent first metatarsal; Acrocephalosyndactylia; Anomalous tracheal cartilage; Antley-Bixler Syndrome Phenotype; Antley-Bixler Syndrome, Autosomal Dominant; Calcaneonavicular fusion; Cartilaginous trachea; Cervical C5/C6 vertebrae fusion; Craniofacial dysostosis type 1; Cutis gyrata of palms and soles; JACKSON-WEISS SYNDROME; Multiple suture craniosynostosis; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Pfeiffer Syndrome; Pfeiffer type acrocephalosyndactyly; Abnormality of skull shape; Abnormality of the pancreas; Absence of the parotid gland; Absent proximal phalanx of thumb; Aplasia of the parotid gland; Asymmetrical skull; Bicoronal synostosis; Bilateral triphalangeal thumbs; Broad distal phalanx (thumb); Dextraposition of aorta; Hallux Varus; Hypoplasia of the lacrimal puncta; Hypoplastic lacrimal duct; Hypoplastic lacrimal gland; Iridocele; Lacrimal gland aplasia; Lacrimoauriculodentodigital syndrome; Malformation of skull shape; Nephrosclerosis; Overriding aorta; Parotid gland hypoplasia; Prominent crus of helix; Saethre-Chotzen Syndrome; Short middle phalanx of toe; Absence of Stensen duct; Agenesis of parotid duct; Agenesis of punctum lacrimale; Brachyturricephaly; Coronal hypospadias; Dacryocystitis; Furrowed palms and soles; Lacrimal Puncta, Absence of; Overfolding of the superior helices; Radial deviation of the 3rd finger; Subcoronal hypospadias; Thenar hypoplasia; Aqueductal Stenosis; Arachnoid Cysts; Arnold-Chiari Malformation, Type I; Broad metatarsals; Extramedullary Hematopoiesis (disorder); Extramedullary erythropoiesis; Flat forehead; Fused labia minora; Widened metatarsal shaft; Cervical vertebral abnormalities; Cloverleaf cranium shape; Disproportionately short middle phalanges; Interparietal craniosynostosis; Narrow pelvis; Partial duplication of thumb phalanx; Peg shaped front tooth; Peg-shaped incisors; Pointed front tooth; Pointed incisor; Upper airway obstruction; Ankylosis of the elbow joint; Anteriorly placed anus; Bronchomalacia; Cloverleaf skull; Motor Skills Disorders; Broad hallux phalanx; Macrocephaly; Narrow internal auditory canal; Posterior fossa cyst; Radial polydactyly; Radiohumeral synostosis of elbow; Ramer Ladda syndrome; Soft calvaria; Synostotic Posterior Plagiocephaly; Abnormality of the nasopharynx; Alacrima; CLEFT CHIN; Lacrimal Duct Obstruction; Natal Teeth; Obstruction of nasolacrimal duct; Pancreatic Diseases; Periorbital fullness; Simple syndactyly of fingers - first web; Synostosis of carpal bones; Thumb absent or hypoplastic; Abnormality of the antihelix; Atresia of vagina; Bell-shaped thorax; Delayed eruption of primary teeth; Hamartoma Syndrome, Multiple; Night blindness, congenital stationary, complete; Night blindness, stationary; Oguchi disease; Ulnar bowing; Aplasia/Hypoplasia of the earlobes; Arnold Chiari Malformation; Blepharospasm; Choanal stenosis; Cutaneous finger syndactyly; Hypoplastic ischia; Stomach Carcinoma; Tracheomalacia; Acrocephaly; Congenital anomaly of the kidney; Epithelial corneal erosions; Hearing Loss, Mixed Conductive-Sensorineural; Hearing abnormality; Recurrent erosion of cornea; Absence of septum pellucidum; Corneal diameter increased; Narrowing of ear canal; Shallow orbits; Stenosis of external auditory canal; Visceral angiomatosis; Congenital keratoglobus; Coronal craniosynostosis; Laryngomalacia; Absence of radius and ulna; Absent radius; Corneal Ulcer; Long nose; Night blindness, congenital stationary; Radial aplasia; Bifid scrotum; Limb Deformities, Congenital; Short hallux; Sleep Apnea Syndromes; Small labia majora; Capuchin ears; Cupped ears (finding); Abnormality of the palate; Congenital hypoplasia of clavicle; Hydrophthalmos; Spina Bifida; Acanthosis Nigricans; Asymmetry of the posterior cranium; Femoral bowing; Flattening of cranial vault; Flattening of head; Globe of eye large; Limited elbow extension; Narrow palate; Plagiocephaly; Plagiocephaly, Nonsynostotic; Rhomboid shaped head; Agenesis of teeth; Open Bite; Reduced number of teeth; Short metatarsal; Depressed cheekbone; Flattening of the zygomatic bone; Hypoplasia of the zygomatic bone; Hypotrophic cheekbone; Small cheekbone; Absent auditory canals; Absent external auditory canals; Atresia of the external auditory canal; Atretic auditory canal; Congenital hypoplasia of radius; Narrow nose; Radial ray hypoplasia; Simple syndactyly of toes, first web space; Abnormality of cardiovascular system morphology; Congenital heart disease; Intracranial Hypertension; Micronychia (disorder); Radioulnar Synostosis; Short ulnae; ULNAR HYPOPLASIA; Cholangiocarcinoma; Esophageal Atresia; Vertical Talus; Breast Carcinoma; Bunion; Hallux Valgus; Cleft uvula; Broad thumbs; Choanal Atresia; Late fontanel closure; Moderate mental retardation (I.Q. 35-49); Noncancerous mole; Broad hallux; Low anterior hairline; Congenital absence of kidney; Abnormality of the ribs; Skin hyperelastic; Facial asymmetry; Gingival Overgrowth; Acne; Bilateral single transverse palmar creases; Gingival Hypertrophy; Defective enamel matrix; Dental Enamel Hypoplasia; Dysplasia of tooth enamel; Gingival Hyperplasia; Thin dental enamel; abnormal growth; Conjunctivitis; Conjunctivitis, recurrent; Malformed pinnae; Skin Abnormalities; Abnormality of pelvic girdle bone morphology; Convex nasal ridge; Pyloric Stenosis; Skull malformation; Underdeveloped brows; Underdeveloped supraorbital ridges; Small hand; Congenital Camptodactyly; Hypertrophy of clitoris; Auricular malformation; Simple ear; Syndactyly; Xerostomia; Melanocytic nevus; Respiratory distress; Craniosynostosis; Wide anterior fontanel; Inadequate arch length for tooth size; Syndactyly of the toes; Tooth Crowding; Tooth mass arch size discrepancy; Tooth size discrepancy; Hirsutism; Large bregma sutures; Large fontanelle; Large, late-closing fontanelle; Wide bregma sutures; Congenital small ears; Distortion of face; Dysmorphic facies; Funny looking face; Syndactyly of fingers; facial deformity; Arachnodactyly; Chronic otitis media; Flat face; ear infection chronic; Decreased joint mobility; Endometrial Neoplasms; Multiple, subcutaneous nodules; Narrow thorax; Short hands; Subcutaneous nodule; Lordosis; Angle class 2 malocclusion; Angle class 3 malocclusion; Convex nasal bridge; Malocclusion; Prominent nasal bridge; Congenital anomaly of face; Congenital Heart Defects; Broad forehead; Palmoplantar Keratosis; Late tooth eruption; Cerebellar Hypoplasia; Somatic mutation; Telecanthus; Decreased projection of maxilla; Deficiency of upper jaw bones; Hypoplasia of the maxilla; Hypotrophic maxilla; Maxillary retrognathia; Retrusion of upper jaw bones; Hydronephrosis; Hypoplastic feet; Tooth Abnormalities; Mild Mental Retardation; Dental caries; Rotting teeth; Flexion contracture of proximal interphalangeal joint; Class III malocclusion; Hypertrophy of lower jaw; Increased size of mandible; Long narrow head; Mandibular hyperplasia; Narrow cranium shape; Narrow head shape; Narrow skull shape; Turridolichocephaly; mandibular excess (physical finding); Cleft Lip; Agenesis of corpus callosum; Hypodontia; Joint stiffness; Nonorganic psychosis; Atrial Septal Defects; Large auricle; Large dysplastic ears; Large pinnae; Large prominent ears; Large protruding ears; Large, floppy ears; Macrotia; Brachycephaly; Broad cranium shape; Wide skull shape; Dermatologic disorders; Exophthalmos; Prominent eyes; Prominent globes; Protruding eyes; Generalized osteopenia; Osteopenia; High forehead; Tall forehead; Decreased projection of midface; Hypotrophic midface; Midface retrusion; Small midface; Bilateral fifth finger clinodactyly; Curvature of little finger; Low-set, posteriorly rotated ears; Hydrocephalus; Ventricular Septal Defects; Conductive hearing loss; Dilated ventricles (finding); Brachydactyly; Increase in blood pressure; Hypotrophic malar bone; Malar flattening; Short nose; Small nose; Long philtrum; Liver Cirrhosis; Big calvaria; Increased head circumference; Increased size of cranium; Increased size of skull; Psychotic Disorders; Craniofacial Abnormalities; Frontal bossing; Downward slant of palpebral fissure; Highly variable severity; Variable expressivity; Uranostaphyloschisis; Feeding difficulties in infancy; Low Vision; Visual Impairment; Low set ears; Congenital deafness; Hearing Loss, Partial; Anteverted nostril; Byzanthine arch palate; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Deafness; Cleft Palate; hearing impairment; Lung Neoplasms; Optic Atrophy; Blepharoptosis; Orbital separation excessive; Mental Depression; Cryptorchidism; Strabismus; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Hypertensive disease; Stomach Neoplasms; Depressive disorder; Mammary Neoplasms; Bipolar Disorder; Short stature; Epilepsy; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Schizophrenia; Autosomal recessive predisposition
如果該基因突變后，風(fēng)險(xiǎn)可能增加的疾病類型（中文版）：
骨膜異常;短頭畸形；強(qiáng)直;阿佩特綜合征；彎曲骨發(fā)育不良綜合征；廣泛的遠(yuǎn)側(cè)拇趾；顱面發(fā)育不良； Beare 和 Stevenson 的 Cutis Gyrata 綜合征；異位肛門；恥骨不有效骨化；邊緣畸形；主題抑郁癥；半規(guī)管形態(tài)異常；耳前皮膚皺紋；突出的陰囊中縫；舟骨畸形、上頜后縮和智力低下；陡峭的髖臼頂；拇指偏差；鼻淚管系統(tǒng)異常；先進(jìn)跖骨缺失；尖頭并指；氣管軟骨異常； Antley-Bixler 綜合征表型； Antley-Bixler 綜合征常染色體顯性遺傳；跟舟融合術(shù)；軟骨氣管;頸椎C5/C6椎骨融合術(shù)； 1 型顱面骨發(fā)育不全；手掌和足底的回皮； JACKSON-WEISS 綜合癥；多次縫合顱縫早閉；第二指遠(yuǎn)節(jié)指骨的部分復(fù)制；第 3 指遠(yuǎn)端指骨的部分復(fù)制；菲佛綜合癥； Pfeiffer 型尖頭并指畸形；顱骨形狀異常；胰腺異常;沒有腮腺;沒有拇指的近節(jié)指骨；腮腺發(fā)育不全;不對(duì)稱的頭骨；雙冠縫早閉；雙側(cè)三指拇指；寬遠(yuǎn)節(jié)指骨（拇指）；主動(dòng)脈右旋;拇外翻；淚點(diǎn)發(fā)育不全;淚道發(fā)育不全；淚腺發(fā)育不全；虹膜膨出；淚腺發(fā)育不全；淚耳齒指綜合癥；顱骨形狀畸形；腎硬化；覆蓋主動(dòng)脈；腮腺發(fā)育不全;突出的螺旋腳； Saethre-Chotzen 綜合征；腳趾的短中間指骨；沒有 Stensen 導(dǎo)管；腮腺管發(fā)育不全；淚點(diǎn)發(fā)育不全；短頭畸形；冠狀尿道下裂;淚囊炎;皺紋的手掌和腳底；淚點(diǎn)缺失；上螺旋的過度折疊；第三指橈偏；冠狀下尿道下裂；魚際發(fā)育不全;導(dǎo)水管狹窄；蛛網(wǎng)膜囊腫； Arnold-Chiari 畸形I 型；廣泛的跖骨;髓外造血（紊亂）；髓外紅細(xì)胞生成；平坦的額頭；融合的小陰唇；加寬跖骨軸；頸椎異常；三葉草顱骨形狀；中間指骨不成比例地短；頂骨縫早閉；骨盆狹窄；拇指節(jié)部分重復(fù)；釘形門牙；釘形門牙；尖的門牙；尖門牙；上呼吸道阻塞；肘關(guān)節(jié)強(qiáng)直;肛門前位；支氣管軟化癥；三葉草頭骨；運(yùn)動(dòng)技能障礙；廣泛的拇趾指骨;巨頭畸形；狹窄的內(nèi)耳道；后顱窩囊腫；橈骨多指；肘關(guān)節(jié)橈肱關(guān)節(jié)早閉； Ramer Ladda 綜合癥；軟顱骨; Synostotic 后斜頭畸形;鼻咽異常;淚腺;下巴裂；淚道阻塞；新生牙齒；鼻淚管阻塞；胰腺疾??；眶周豐滿度；手指的簡單并指 - 先進(jìn)網(wǎng);腕骨關(guān)節(jié)早閉；拇指缺失或發(fā)育不全；反螺旋異常；陰道閉鎖；鐘形胸部；乳牙延遲萌出；錯(cuò)構(gòu)瘤綜合征多發(fā)性；夜盲癥先天靜止有效；夜盲癥靜止不動(dòng)；大口病；尺骨彎曲；耳垂發(fā)育不全/發(fā)育不全； Arnold Chiari 畸形；眼瞼痙攣；后鼻孔狹窄；皮膚手指并指；坐骨發(fā)育不全；胃癌；氣管軟化癥；尖頭畸形；腎臟先天性異常;上皮角膜糜爛;聽力損失混合傳導(dǎo)-感覺神經(jīng)性；聽力異常；角膜反復(fù)糜爛;沒有透明隔膜；角膜直徑增加；耳道變窄；淺軌道；外耳道狹窄；內(nèi)臟血管瘤??；先天性角化球;冠狀顱縫早閉；喉軟化癥；沒有橈骨和尺骨；缺少半徑；角膜潰瘍；長鼻子;夜盲癥先天性靜止；放射狀發(fā)育不全；雙歧陰囊;肢體畸形先天性；短拇指；睡眠呼吸暫停綜合癥；小陰唇；卷尾猴的耳朵；杯狀耳朵（發(fā)現(xiàn)）；上顎異常；先天性鎖骨發(fā)育不全；眼積水;脊柱裂；黑棘皮??；后顱骨不對(duì)稱；股骨彎曲；顱頂扁平化；頭部扁平;眼球大；肘部伸展受限；狹窄的上顎；斜頭畸形；斜頭畸形非收縮性；菱形頭；牙齒發(fā)育不全；打開咬合；牙齒數(shù)量減少；短跖骨;顴骨凹陷；顴骨變平；顴骨發(fā)育不全;顴骨肥大；小顴骨；沒有耳道；沒有外耳道；外耳道閉鎖;聽道閉鎖；先天性橈骨發(fā)育不全；窄鼻子；放射線發(fā)育不全；簡單的腳趾并指先進(jìn)個(gè)網(wǎng)頁空間；心血管系統(tǒng)形態(tài)異常；先天性心臟病；顱內(nèi)高壓；小甲蟲（紊亂）；尺橈骨早閉；短尺骨；尺骨發(fā)育不全；膽管癌；食管閉鎖；垂直距骨；乳腺癌；拇囊炎;拇外翻;懸雍垂裂；大拇指；后鼻孔閉鎖；囟門晚閉；中度智力低下（IQ 35-49）；非癌性痣；大拇指；低前發(fā)際線；先天性無腎；肋骨異常;皮膚超彈性；面部不對(duì)稱；牙齦增生；粉刺;雙側(cè)單橫掌橫紋；牙齦肥大；牙釉質(zhì)基質(zhì)缺陷；牙釉質(zhì)發(fā)育不全；牙釉質(zhì)發(fā)育不良;牙齦增生；薄牙釉質(zhì)；異常生長；結(jié)膜炎;結(jié)膜炎反反復(fù)作；畸形耳廓；皮膚異常；骨盆帶骨形態(tài)異常；凸鼻梁；幽門狹窄；顱骨畸形；眉毛不發(fā)達(dá)；眶上脊發(fā)育不全；小手；先天性彎曲指；陰蒂肥大;耳廓畸形；簡單的耳朵；并指;口干;黑色素細(xì)胞痣;呼吸窘迫；顱縫早閉；寬大的前囟門；牙齒尺寸的牙弓長度不足；腳趾并趾；牙齒擁擠；牙弓大小不一致；牙齒大小不一致；多毛癥；大前囟縫合線；大囟門；大的、晚閉的囟門；寬前囟縫合線；先天性小耳朵；面部扭曲；畸形面容；滑稽的臉；手指并指；面部畸形；蛛形綱；慢性中耳炎;平面；耳部感染慢性;關(guān)節(jié)活動(dòng)度下降；子宮內(nèi)膜腫瘤；多個(gè)皮下結(jié)節(jié)；狹窄的胸部;手短；皮下結(jié)節(jié)；前凸;角度 2 級(jí)錯(cuò)牙合；角度 3 級(jí)錯(cuò)牙合；凸鼻梁；咬合不正；突出的鼻梁；面部先天性異常；先天性心臟缺陷；額頭寬闊；掌跖角化??；晚出牙；小腦發(fā)育不全；體細(xì)胞突變；內(nèi)眥贅皮；上頜骨突出減少；上頜骨缺乏；上頜骨發(fā)育不全;上頜骨營養(yǎng)不良；上頜后縮;上頜骨后縮；腎積水;發(fā)育不全的腳；牙齒異常；輕度智力低下；齲齒;蛀牙；近端指間關(guān)節(jié)屈曲攣縮； III 類咬合不正；下頜肥大;下頜骨增大；長而窄的頭；下頜骨增生;狹窄的顱骨形狀；窄頭型；狹窄的顱骨形狀； Turridolicochephaly;下頜過長（物理發(fā)現(xiàn)）；唇裂；胼胝體發(fā)育不全；缺牙癥;關(guān)節(jié)僵硬；非器質(zhì)性精神病；房間隔缺損；大耳廓；發(fā)育不良的大耳朵；大耳廓；大而突出的耳朵；大而突出的耳朵；大而松軟的耳朵； Macrotia;短頭畸形；寬顱骨形狀；寬顱骨形狀；皮膚病；眼球突出；突出的眼睛;突出的地球儀；突出的眼睛;廣泛性骨質(zhì)減少；骨質(zhì)減少；高額頭;額頭高；面部中部突出減少；中面部營養(yǎng)不良；面中部后縮；中臉??；雙側(cè)小指彎曲；小指彎曲；位置低、向后旋轉(zhuǎn)的耳朵；腦積水;室間隔缺損；傳導(dǎo)性聽力損失；擴(kuò)張的心室（發(fā)現(xiàn)）；短指；血壓升高；營養(yǎng)不良的顴骨;顴骨變平；鼻子短；小鼻子;長人中；肝硬化；大顱骨;頭圍增加；顱骨體積增大；顱骨尺寸增大；精神障礙；顱面異常；正面凸起；瞼裂向下傾斜；高度可變的嚴(yán)重性；可變表現(xiàn)力； Uranostaphyloschisis;嬰兒喂養(yǎng)困難；低視力;視力障礙；低位耳朵；先天性耳聾；部分聽力損失；鼻孔前傾；拜占庭拱形上顎；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聾；腭裂；聽力受損;肺腫瘤；視神經(jīng)萎縮；上瞼下垂；軌道分離過度；精神抑郁癥；隱睪;斜視；發(fā)育不全的下頜骨髁；下頜發(fā)育不全;小頜畸形；高血壓??；胃腫瘤；抑郁癥；乳腺腫瘤；躁郁癥;身材矮?。?a href='http://m.alivewithwords.com/cp/chabiyin/shenjin/2023/40917.html' target='_blank'>癲癇;癲癇發(fā)作；認(rèn)知延遲；整體發(fā)育遲緩；智力和運(yùn)動(dòng)遲緩；智力遲鈍；智力低下；智力低下；精神缺陷；學(xué)習(xí)成績差；智力殘疾;精神分裂癥;常染色體隱性易感性
GWAS基因檢測(cè)所建立的與該基因的疾病關(guān)聯(lián)（國際版）：
Breast Neoplasms
GWAS基因檢測(cè)所解碼的該基因突變會(huì)增加風(fēng)險(xiǎn)的疾病種類（中文版）：
乳腺腫瘤
以該基因做靶點(diǎn)的藥物（國際版）：
Palifermin (Protein tyrosine kinase activity);Thalidomide (Protein tyrosine kinase activity);SU4984 (Protein tyrosine kinase activity);4-[4-(1-Amino-1-Methylethyl)Phenyl]-5-Chloro-N-[4-(2-Morpholin-4-Ylethyl)Phenyl]Pyrimidin-2-Amine (Protein tyrosine kinase activity);Regorafenib (Protein tyrosine kinase activity);Ponatinib (Protein tyrosine kinase activity);Lenvatinib (Protein tyrosine kinase activity);Nintedanib (Protein tyrosine kinase activity)
針對(duì)該基因所產(chǎn)生的突變，可能有正確效果的藥物（中文版）：
Palifermin（蛋白酪氨酸激酶活性）；沙利度胺（蛋白酪氨酸激酶活性）；SU4984（蛋白酪氨酸激酶活性）；4-[4-(1-Amino-1-Methylethyl)Phenyl]-5-Chloro-N-[4- (2-Morpholin-4-Ylethyl)Phenyl]Pyrimidin-2-Amine（蛋白質(zhì)酪氨酸激酶活性）；Regorafenib（蛋白質(zhì)酪氨酸激酶活性）；Ponatinib（蛋白質(zhì)酪氨酸激酶活性）；Lenvatinib（蛋白質(zhì)酪氨酸激酶活性）；Nintedanib（蛋白質(zhì)酪氨酸激酶活性）酪氨酸激酶活性）
