【佳学基因检测】讯飞星火认知大模型中EZH2基因测试知识信息源分析
基因检测的序列名称：
EZH2
人体基因序列变化与疾病表征数据库中的基因代码：
2146
人体基因序列数据库中国际交流名称全称
enhancer of zeste 2 polycomb repressive complex 2 subunit
中国数据库中基因全称：
Zeste 2聚梳抑制复合物2亚基的增强子
基因检测报告英文版基因简介
This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
基因突变所影响的基因信息
此基因编码Polycomb-group（PcG）家族的成员。PcG家族成员形成多聚体蛋白复合物，在连续的细胞世代中参与维持基因的转录抑制状态。该蛋白与胚胎外胚层发育蛋白，VAV1癌蛋白和X连锁核蛋白相关。该蛋白可能在造血和中枢神经系统中起作用。已经为该基因鉴定了编码不同同工型的多个交替的转录本变体。[由RefSeq提供，2011年2月]
国际国内该碱基基因序列的其他英语文字母简称：
ENX-1, ENX1b, KMT6, KMT6A, WVS, WVS2, EZH2
基因解码对该基因序列在细胞核中的染色体所给予的编号：
该基因序列位于人类第7号染色体上。
基因解码对基因序列的正确定位
该基因序列在GRCh37版本中的起始位置坐标为：148504464；结束位置坐标为：148581441。该基因序列在GRCh38版本中的起始位置坐标为：148807372；结束位置坐标为：148884662。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。
佳学基因解码对该基因的功能分类：国际版
Enzymes/ENZYME proteins/Transferases
基因解码对该基因的功能分类：中文版
酶/酶蛋白/转移酶
结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所（国际版）：
Nucleoplasm
结构与功能基因解码所揭示的该基因发挥作用的细胞内位置（中文版）：
核质
该基因序列变化后增加的疾病风险（国际版）：
Dysharmonic bone age; Flared humeral metaphysis; Flared humerus; Myelodysplastic-Myeloproliferative Diseases; Upper Extremity Deformities, Congenital; Deep-set nails; Flared femoral metaphysis; Primary Myelofibrosis; Weaver syndrome; Limited knee extension; Dilation of lateral ventricles; Short fourth metatarsals; Thin nails; Abnormally low-pitched voice; Prominent fingertip pads; Inversion of nipple (disorder); Calcaneovalgus deformity; Leukemia, Megakaryoblastic, of Down Syndrome; Slurred speech; Testicular Hydrocele; CLEFT CHIN; Diastasis recti; Overriding toe; Absence of septum pellucidum; Large hand; Broad feet; Hypoplastic iliac wing; Lymphoma, Follicular; Juvenile Myelomonocytic Leukemia; Limited elbow extension; Deep philtrum; Depressed philtrum; Coxa valga; Coxa valga deformity; Hypoplastic toenails; Cutis Laxa; Generalized elastolysis; Hanging skin; Metatarsus Varus; Toeing-in; Broad thumbs; Redundant skin; Contracture of joint of hand; Short ribs; Hoarseness; Diffuse Large B-Cell Lymphoma; Tall stature; Advanced bone age; MYELODYSPLASTIC SYNDROME; Radially deviated fingers; Congenital Camptodactyly; Fine hair; Craniosynostosis; Osteosarcoma; Round face; Round, full face; Abnormality of the metaphyses; Abnormal behavior; Abnormality of the fingernails; Endometrial Neoplasms; Retrognathia; Broad forehead; Congenital clinodactyly; Curvature of digit; Sparse hair; Thin, sparse hair; Flexion contracture of proximal interphalangeal joint; Class III malocclusion; Hypertrophy of lower jaw; Increased size of mandible; Mandibular hyperplasia; Umbilical hernia; mandibular excess (physical finding); Joint stiffness; Large auricle; Large dysplastic ears; Large pinnae; Large prominent ears; Large protruding ears; Large, floppy ears; Macrotia; Congenital pes cavus; Muscle Hypertonia; Hernia, Inguinal; Congenital clubfoot; Low-set, posteriorly rotated ears; Hyperkyphosis; Delayed speech and language development; Language Delay; Speech Delay; Speech impairment; Kyphosis deformity of spine; Long philtrum; Big calvaria; Increased head circumference; Increased size of cranium; Increased size of skull; Downward slant of palpebral fissure; Feeding difficulties in infancy; Congenital Epicanthus; Dysarthria; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Muscle Spasticity; Orbital separation excessive; Cryptorchidism; Strabismus; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Acquired scoliosis; Curvature of spine; Mammary Neoplasms; Prostatic Neoplasms; Epilepsy; Muscle hypotonia; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability
如果该基因突变后，风险可能增加的疾病类型（中文版）：
骨龄失调；扩张的肱骨干骺端；扩张的肱骨；骨髓增生异常-骨髓增生性疾病；上肢畸形先天性；深嵌指甲；喇叭形股骨干骺端；原发性骨髓纤维化；韦弗综合症；膝关节伸展受限；侧脑室扩张;第四跖骨短；细指甲；声音异常低沉；突出的指尖垫；乳头内陷（紊乱）；跟骨外翻畸形；白血病、巨核细胞、唐氏综合症；言语不清;睾丸鞘膜积液；下巴裂；腹直肌分离;压倒脚趾；没有透明隔膜；大手；宽脚；发育不全的髂翼；淋巴瘤滤泡性；幼年型粒单核细胞白血病；肘部伸展受限；深人中;抑郁的人中；髋外翻；髋外翻畸形；发育不全的脚趾甲；皮肤松弛；广泛性弹性组织溶解；挂皮；跖骨内翻；前束；大拇指；多余的皮肤；手关节挛缩；短肋;嘶哑;弥漫性大 B 细胞淋巴瘤；身材高大；骨龄提前；骨髓增生异常综合症;径向偏离的手指;先天性弯曲指；细毛；颅缝早闭；骨肉瘤;圆脸;圆形全脸；干骺端异常；异常行为;指甲异常；子宫内膜肿瘤；后颌畸形；额头宽阔；先天性斜指；数字曲率；稀疏的头发；稀疏的头发；近端指间关节屈曲挛缩； III 类咬合不正；下颌肥大;下颌骨增大；下颌骨增生;脐疝;下颌过长（物理发现）；关节僵硬；大耳廓；发育不良的大耳朵；大耳廓；大而突出的耳朵；大而突出的耳朵；大而松软的耳朵； Macrotia;先天性高弓足；肌肉张力亢进；疝气腹股沟；先天性马蹄内翻足；位置低、向后旋转的耳朵；脊柱后凸;言语和语言发育迟缓；语言延迟；语音延迟；言语障碍；脊柱后凸畸形；长人中；大颅骨;头围增加；颅骨体积增大；颅骨尺寸增大；睑裂向下倾斜；婴儿喂养困难；先天性内眦赘皮；构音障碍；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；肌肉痉挛；轨道分离过度；隐睾;斜视；发育不全的下颌骨髁；下颌发育不全;小颌畸形；后天性脊柱侧凸；脊柱弯曲；乳腺肿瘤；前列腺肿瘤；癫痫;肌肉张力减退；癫痫发作；认知延迟；整体发育迟缓；智力和运动迟缓；智力迟钝；智力低下；智力低下；精神缺陷；学习成绩差；智力残疾
GWAS基因检测所建立的与该基因的疾病关联（国际版）：
正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容
GWAS基因检测所解码的该基因突变会增加风险的疾病种类（中文版）：
正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容
以该基因做靶点的药物（国际版）：
正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容
针对该基因所产生的突变，可能有正确效果的药物（中文版）：
正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容
