健康先知 (進階版)
健康先知進階版包含遺傳性癌症 (49基因)、心血管疾病 (152基因)、結締組織 (56基因)、糖尿病和肥胖及代謝性疾病 (38基因)、視覺及聽覺 (10基因)、遺傳性疾病 (21基因)，詳細基因參見附表。本檢測服務提供客戶對於上述類別的疾病的基因風險評估，透過DNA序列分析，比對晶準合作實驗室的廣大資料庫，發現基因中可能致病的突變，提早預警，並與專業醫療人員諮詢，避免罹病或減少患病時的嚴重度。
據世界衛生組織統計，全球每分鐘有18人死於癌症，衛生福利部也公告癌症為國人十大死因之首，先前研究顯示所有癌症中14.6%的病患有家族史。美國臨床腫瘤醫學會表示，部分單基因發生致病性變異 (如TP53、BRCA1/BRCA2)，會導致中高度罹癌風險。因此經由基因分析，可預先了解可能罹癌的部位，來進行預防性的醫療處置，減少癌症末期才發現時的龐大醫藥費及增加癌症治療成功率。
心血管疾病在台灣排名十大死因第二，在眾多的危險因子中遺傳基因、種族、高齡是不可改變的。1%的新生兒有先天性心臟病，而當中有1/4會有嚴重的症狀。所謂先天性心血管疾病，在出生時就有心臟結構或功能方面的缺陷，這些缺陷通常發生在心臟的肌肉、瓣膜或是動脈，雖然在初期病人還算健康，但日後功能衰退、血液含氧不足，臨床上常可觀察到呼吸急促、心臟有雜音、皮膚發紺。如果未治療，可能導致休克昏迷甚至死亡。
已知有200種以上的遺傳性障礙影響組織及細胞的形成及組織和細胞間的鍵結強度，而這類型的遺傳性障礙就是動脈及結締組織病變，而且成因都是基因變異，這類型的變異常會影響個體的外觀及皮膚、骨骼、關節、心臟、血管、肺、眼睛、耳朵的生長，也會遺傳給下一代。
造成糖尿病及肥胖現象具有複雜的原因，包括多基因遺傳、生活型態和環境因素。在部分的情況，糖尿病及肥胖可能是單基因變異所造成。第二型糖尿病是目前已知最常見的代謝疾病，全世界約有5%的人有第二型糖尿病，最重常造成失明、截肢及腎病。目前第二型糖尿病的研究以 MODY (Maturity Onset Diabetes of the Young)有明顯的表現型，通常在25歲前會發病，而且與遺傳的關係相當明確。
視網膜病變中有名的疾病-遺傳性視網膜失養症，其中最常見的視網膜色素變性(retinitis pigmentosa)，盛行率約為一千分之一，有高度遺傳遺傳性，症狀夜盲、視覺障礙、辨色力下降、視野狹窄。卵黃狀黃斑營養不良，可導致進行性視力減退，會影響到視網膜(視網膜是襯在眼後的專門感光的組織)。黃斑負責清晰的中央視力，這是閱讀，駕駛和識別面部等詳細任務所必需的。如果在成年期發作的形式通常在成年後期，並往往導致視力喪失，並隨著時間的推移逐漸惡化。
依據世界衛生組織報告，全世界有4.66億人有聽力障礙的問題，而其中有3400萬為兒童，估計至2050年將有全球將有9億人有聽力障礙的問題。65歲以上的老人有3分之一有聽力障礙。聽力障礙有可能因為遺傳、感染、藥物及長期處於噪音下引起。在遺傳性的聽力障礙中，有30%是伴隨其他症狀，但是多數70%為無伴隨症狀，而且會隨年齡逐漸惡化。
在健康先知檢測項目中，我們特別的選出數種其他類別遺傳性疾病，而最有名的包括鐮刀型貧血及楓糖尿症。鐮刀型貧血又稱地中海貧血，顧名思義就是紅血球呈現鐮刀型。正常紅血球壽命約90～120天，鐮刀型紅血球的壽命則到20天以下，也屬於溶血性貧血（hemolytic anemia）。控制的基因位在人類第11條染色體上， 目前可以透過遺傳諮詢，降低生下鐮刀型貧血新生兒的機會。症狀根據不同類型有不同的嚴重度，除了貧血症狀，倦怠感，膚色蒼白，有時合併有脾臟腫大，在飲食方面因為鐵離子沉積症，所以應取用低鐵質飲食。
其他如楓糖尿症（maple syrup urine disease）也在檢測項目中。患者的體、尿液有楓糖漿味，是最常發生在原住民族群的代謝異常疾病，罕見疾病基因會掌握的案例中，就有70%以上為原住民孩子。由於體內缺少支鏈甲型酮酸脫氫酶素(branched-chain α-keto acid dehydrogenase)，使得支鏈胺基酸無法進行去羧基反應（decarboxylation），因而支鏈胺基酸（纈胺酸、白胺酸、異白胺酸）堆積在體內產生毒性，使腦損傷，也產生了特殊的體味，屬於體染色體隱性遺傳疾病，通常罹患此症的嬰兒，在開始餵食後數天逐漸出現嘔吐、嗜睡、食慾減低、呼吸急促、黃疸、抽搐等現象，因此長期需特殊奶粉適當管制病患對分支鏈胺基酸的攝取。
技術摘要
我們使用次世代定序方法解析基因序列，技術的敏感性和特異性高達99%。這個檢測的平均覆蓋深度 > 100X且98%的目標區的覆蓋率 >= 10X。這個基因檢測套件使用Atlas-CNV方法偵測大片段的缺失及重複(CNVs)
遺傳性癌症
| 基因名 | 相關癌症 | 相關癌症中文 |
| APC | Colorectal cancer somatic, Gastric cancer somatic Adenomatous polyposis coli, Brain tumor- polyposis syndrome 2, Gardner syndrome, Desmoid disease hereditary, Hepatoblastoma somatic | 大腸, 胰臟 |
| ATM | Breast cancer susceptibility, Prostate cancer susceptibility, Pancreatic cancer susceptibility, Ataxia- telangiectasia | 乳房, 胰臟 |
| BAP1 | Tumor predisposition syndrome | 黑色素 |
| BARD1 | Breast cancer, susceptibility | 乳房 |
| BMPR1A | Colorectal cancer, Pancreatic cancer susceptibility, Juvenile polyposis syndrome infantile form, Polyposis syndrome hereditary mixed 2, Polyposis juvenile intestinal | 大腸, 胰臟, 胃 |
| BRCA1 | Breast-ovarian cancer familial 1, Pancreatic cancer susceptibility, Prostate cancer susceptibility, Fanconi anemia complementation group S | 乳房, 卵巢, 胰臟, 前列腺 |
| BRCA2 | Breast-ovarian cancer, Breast cancer male susceptibility, Breast cancer Fanconi anemia complementation group D1, Glioblastoma 3, Medulloblastoma, Pancreatic cancer 2, Prostate cancer, Wilms tumor | 乳房, 卵巢, 黑色素, 胰臟, 胃, 前列腺 |
| BRIP1 | Breast cancer, early-onset, susceptibility to | 乳房, 卵巢 |
| CDH1 | Breast cancer lobular, Endometrial carcinoma somatic, Gastric cancer hereditary diffuse, Ovarian cancer somatic, Prostate cancer susceptibility | 胃 |
| CDKN2A | Melanoma and neural system tumor syndrome, Melanoma-pancreatic cancer syndrome, Melanoma,cutaneous malignant 2 | 黑色素, 胰臟 |
| CDK4 | Melanoma, cutaneous malignant 3 | 黑色素 |
| CHEK2 | Breast cancer susceptibility, Li-Fraumeni syndrome, Colorectal and gastric cancer susceptibility, Osteosarcoma somatic, Prostate cancer familial susceptibility | 乳房, 大腸, 前列腺 |
| EPCAM | Colorectal cancer, hereditary nonpolyposis, type 8 | 卵巢, 子宮, 大腸, 胰臟, 胃 |
| GREM1 | Colorectal cancer risk association | 大腸 |
| FH | Leiomyomatosis and renal cell cancer | 腎 |
| FLCN | Birt-Hogg-Dube syndrome | 腎 |
| MAX | Pheochromocytoma susceptibility | 嗜鉻細胞瘤 |
| MEN1 * | Multiple endocrine neoplasia 1 | 多發性內分泌腫瘤 |
| MITF | Melanoma susceptibility | 黑色素 |
| MLH1 | Colorectal cancer hereditary nonpolyposis type 2, Mismatch repair cancer, Muir-Torre syndrome, Lynch syndrome | 卵巢, 子宮, 大腸, 胰臟, 胃 |
| MSH2 | Colorectal cancer hereditary nonpolyposis type 1, Mismatch repair cancer syndrome, Muir-Torre syndrome, Lynch syndrome | 卵巢, 子宮, 大腸, 胰臟, 胃 |
| MSH6 | Colorectal cancer hereditary nonpolyposis type 5, Endometrial cancer familial, Mismatch repair cancer syndrome, Lynch syndrome | 卵巢, 子宮, 大腸, 胃, 前列腺 |
| MUTYH | Adenomas multiple colorectal, Colorectal adenomatous polyposis autosomal recessive with pilomatricomas, Gastric cancer somatic, Breast cancer susceptibility, Uterine cancer susceptibility | 大腸 |
| NF1 | Leukemia juvenile myelomonocytic, Neurofibromatosis familial spinal, Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome, Watson syndrome, Breast cancer susceptibility, Gastric cancer susceptibility, Pancreatic cancer susceptibility | 神經, 肺 |
| NBN | Leukemia, acute lymphoblastic, Breast cancer susceptibility | 乳房, 前列腺 |
| NF2 | Neurofibromatosis, type 2 | 神經 |
| PALB2 | Breast cancer susceptibility, Fanconi anemia complementation group N, Pancreatic cancer susceptibility to 3, Lynch syndrome | 乳房, 卵巢, 胰臟 |
| POLD1 | Colorectal cancer, susceptibility to, 10 | 大腸 |
| POLE | Colorectal cancer, susceptibility to, 12 | 大腸 |
| PMS2 | Colorectal cancer hereditary nonpolyposis type 4, Mismatch repair cancer syndrome, Pancreatic cancer susceptibility | 卵巢, 子宮, 大腸, 胃 |
| PTEN | Cowden syndrome Glioma susceptibility 2, Lhermitte-Duclos syndrome, Meningioma, Prostate cancer somatic, Breast cancer susceptibility | 乳房, 子宮, 大腸, 黑色素 |
| RAD50 | Breast cancer susceptibility, Ovarian cancer susceptibility, Nijmegen breakage syndrome-like disorder | 乳房, 卵巢 |
| RAD51C | Breast-ovarian cancer familial susceptibility, Fanconi anemia complementation group O | 卵巢 |
| RAD51D | Breast-ovarian cancer familial susceptibility to 4 | 卵巢 |
| RB1 | Retinoblastoma | 視網膜, 膀胱, 肺, 骨 |
| RET | Multiple endocrine neoplasia IIA; Multiple endocrine neoplasia IIB; Medullary thyroid carcinoma; Hirschsprung disease, susceptibility to | 內分泌, 甲狀腺, 肺 |
| SDHAF2 | Paragangliomas 2 | 副神經節瘤 |
| SDHA | Paragangliomas 5, Gastric cancer susceptibility | 副神經節瘤, 胃 |
| SDHB | Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas 4, Pheochromocytoma | 胃腸道, 神經, 動脈 |
| SDHC | Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas 3 | 胃腸道, 神經 |
| SDHD | Paraganglioma and gastric stromal sarcoma, Paragangliomas 1, Pheochromocytoma | 胃腸道, 神經, 嗜鉻細胞瘤 |
| SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Pancreatic cancer somatic,Polyposis juvenile intestinal | 大腸, 胰臟, 胃 |
| STK11 | Pancreatic cancer somatic, Peutz-Jeghers syndrome, Testicular tumor somatic, Colorectal cancer susceptibility, Gastric cancer susceptibility, Breast cancer susceptibility | 乳房, 卵巢, 子宮, 大腸, 胰臟, 胃 |
| TMEM127 | Pheochromocytoma | 嗜鉻細胞瘤 |
| TSC1 | Tuberous sclerosis-1 | 結節性硬化症, 膀胱 |
| TSC2 | Tuberous sclerosis-2, Pancreatic cancer | 結節性硬化症, 胰臟 |
| TP53 | Adrenocortical carcinoma pediatric, Basal cell carcinoma 7, Bone marrow failure syndrome, Breast cancer somatic, Choroid plexus papilloma, Colorectal cancer, Glioma susceptibility 1, Hepatocellular carcinoma somatic, Li-Fraumeni syndrome, Nasopharyngeal carcinoma somatic, Osteosarcoma, Pancreatic cancer somatic | 全部癌症皆有相關 |
| VHL | Pheochromocytoma, Renal cell carcinoma somatic, von Hippel-Lindau syndrome | 嗜鉻細胞瘤, 腎細胞, 血管瘤 |
| WT1 | Wilms tumor, type 1 | 腎 |
心血管疾病
| 基因名 | 相關疾病 | 疾病中文名 |
| A2ML1 | Noonan Syndrome 1 | 努南氏症候群 |
| ABCC9 | Atrial fibrillation, familial 12, Cardiomyopathy dilated 10, Hypertrichotic osteochondrodysplasia | 心房顫動 |
| ABCG5 | Hypercholesterolaemia, Sitosterolemia 2 | 家族性高膽固醇 |
| ABCG8 | Hypercholesterolaemia, Sitosterolemia 1 | 家族性高膽固醇 |
| ACADVL | VLCAD deficiency | VLCAD缺乏症 |
| ACTC1 | Atrial septal defect 5, Cardiomyopathy dilated 1R, Cardiomyopathy hypertrophic 11, Left ventricular noncompaction 4 | 心肌病變 |
| ACTN2 | Cardiomyopathy dilated 1AA with or without LVNC, Cardiomyopathy hypertrophic 23 with or without LVNC | 心肌病變 |
| AGL | Glycogen storage disease IIIa, Glycogen storage disease IIIb | 肝醣儲積症 |
| AKAP9 | Long QT syndrome-11 | 心律不整 |
| ALG10B | Reduced susceptibility to acquired Long QT syndrome | 心律不整 |
| ALMS1 | Alstrom syndrome | ALSTROM氏症候群 |
| ANK2 | Cardiac arrhythmia ankyrin-B-related, Long QT syndrome 4 | 心律不整 |
| ANKRD1 | Familial dilated cardiomyopathy | 心肌病變 |
| APOB | Hypercholesterolemia familial 2,Hypobetalipoproteinemia | 家族性高膽固醇 |
| BAG3 | Cardiomyopathy dilated 1HH, Myopathy myofibrillar 6 | 心肌病變 |
| BRAF | Cardiofaciocutaneous syndrome, LEOPARD syndrome 3, Noonan syndrome 7 | 努南氏症候群 |
| CACNA1C | Brugada syndrome 3, Long QT syndrome 8, Timothy syndrome | 心律不整 |
| CACNA2D1 | Brugada syndrome | 心律不整 |
| CACNB2 | Brugada syndrome 4 | 心律不整 |
| CALM1 | Long QT syndrome 14, Ventricular tachycardia catecholaminergic polymorphic 4 | 心律不整 |
| CALM2 | Long QT syndrome 15 | 心律不整 |
| CALM3 | Long Qt Syndrome 1, Catecholaminergic Polymorphic Ventricular Tachycardia | 心律不整 |
| CALR3 | Familial hypertrophic cardiomyopathy (?) | 心肌病變 |
| CASQ2 | Ventricular tachycardia catecholaminergic polymorphic 2 | 心律不整 |
| CAV3 | Cardiomyopathy familial hypertrophic, Creatine phosphokinase elevated serum, Long QT syndrome 9, Myopathy distal Tateyama type, Rippling muscle disease 2 | 心肌病變、心律不整 |
| CBL | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | 類努南氏症候群 |
| CHRM2 | Familial dilated cardiomyopathy | 心肌病變 |
| CPT2 | CPT II deficiency infantile, CPT II deficiency lethal neonatal, CPT II deficiency myopathic stress-induced | CPT2缺乏症 |
| CRYAB | Cardiomyopathy dilated 1II, Myopathy myofibrillar 2, Myopathy myofibrillar fatal infantile hypertonic alpha-B crystallin-related | 心肌病變 |
| CSRP3 | Cardiomyopathy dilated 1M, Cardiomyopathy hypertrophic 12 | 心肌病變 |
| CTF1 | Neonatal Stroke, Hypertensive Heart Disease | 新生兒猝死、高血壓 |
| CTNNA3 | Arrhythmogenic right ventricular dysplasia familial 13 | 心肌病變 |
| DES | Cardiomyopathy dilated 1I, Myopathy myofibrillar 1, Scapuloperoneal syndrome neurogenic Kaeser type | 心肌病變 |
| DMD | Becker muscular dystrophy, Cardiomyopathy dilated 3B, Duchenne muscular dystrophy | 心肌病變 |
| DNAJC19 | 3-methylglutaconic aciduria type V | 心肌病變 |
| DOLK | Congenital disorder of glycosylation type Im | 先天性糖基化障礙 |
| DSC2 | Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair | 心肌病變 |
| DSG2 | Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy dilated 1BB | 心肌病變 |
| DSP | Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy dilated with woolly hair and keratoderma, | 心肌病變 |
| DTNA | Left ventricular noncompaction 1 with or without congenital heart defects | 心肌病變 |
| ELAC2 | Combined oxidative phosphorylation deficiency 17 | 粒線體病變 |
| EMD | Emery-Dreifuss muscular dystrophy 1 X-linked | 肌肉失養症 |
| EYA4 | Cardiomyopathy dilated 1J , Deafness autosomal dominant 10 | 心肌病變 |
| FGF12 | Brugada syndrome, Epileptic encephalopathy early infantile 47 | 心律不整 |
| FHL1 | Emery-Dreifuss muscular dystrophy 6 X-linked, Myopathy X-linked with postural muscle atrophy, Reducing body myopathy X-linked, Uruguay faciocardiomusculoskeletal syndrome | 肌肉失養症 |
| FHL2 | Familial dilated cardiomyopathy | 心肌病變 |
| FKRP | Muscular dystrophy-dystroglycanopathy | 肌失養症 |
| FKTN | Cardiomyopathy dilated 1, Muscular dystrophy-dystroglycanopathy | 心肌病變 |
| FLNC | Cardiomyopathy familial restrictive 5, Myopathy distal 4, Myopathy myofibrillar 5 | 心肌病變 |
| GAA | Glycogen storage disease II | 龐貝氏症 |
| GATA4 | Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect 1 | 心律不整, 心房中膈缺損 |
| GATA6 | Atrial septal defect 9, Atrioventricular septal defect 5, Pancreatic agenesis and congenital heart defects, Persistent truncus arteriosus, Tetralogy of Fallot | 心律不整, 心房中膈缺損 |
| GATAD1 | Cardiomyopathy dilated 2B | 心肌病變 |
| GLA | Fabry disease, Fabry disease cardiac variant | 心肌病變 |
| GPD1L | Brugada syndrome 2 | 心律不整 |
| HCN4 | Brugada syndrome 8, Sick sinus syndrome 2 | 心律不整, 病竇症 |
| HRAS | Congenital myopathy with excess of muscle spindles, Costello syndrome, | 心肌病變 |
| ILK | Cardiomyopathy dilated, Cardiomyopathy hypertrophic | 心肌病變 |
| JPH2 | Cardiomyopathy hypertrophic 17 | 心肌病變 |
| JUP | Arrhythmogenic right ventricular dysplasia 12, Naxos disease | 心肌病變 |
| KCND2 | Atrial fibrillation | 心房顫動 |
| KCND3 | Brugada syndrome 9, Spinocerebellar ataxia 19 | 心律不整 |
| KCNE1 | Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5 | 心律不整 |
| KCNE2 | Atrial fibrillation familial 4 , Long QT syndrome 6 | 心律不整 |
| KCNE3 | Brugada syndrome 6 | 心律不整 |
| KCNE5 | Brugada syndrome | 心律不整 |
| KCNH2 | Long QT syndrome 2, acquired susceptibility to Long QT syndrome 2, Short QT syndrome 1 | 心律不整 |
| KCNJ2 | Andersen syndrome, Atrial fibrillation familial 9, Short QT syndrome 3 | 心律不整, Andersen 氏症候群 |
| KCNJ5 | Hyperaldosteronism familial type III, Long QT syndrome 13 | 心律不整 |
| KCNJ8 | Brugada syndrome | 心律不整 |
| KCNQ1 | Atrial fibrillation familial 3, Jervell and Lange- Nielsen syndrome, Long QT syndrome 1, Short QT syndrome 2 | 心房顫動 |
| KRAS | Cardiofaciocutaneous syndrome 2, Noonan syndrome 3, Oculoectodermal syndrome | 努南氏症候群 |
| LAMA4 | Cardiomyopathy dilated 1JJ | 心肌病變 |
| LAMP2 | Danon disease | 肌肉病變 |
| LDB3 | Cardiomyopathy dilated 1C with or without LVNC, Cardiomyopathy hypertrophic 24, Left ventricular noncompaction 3, Myopathy myofibrillar 4 | 心肌病變 |
| LDLR | Hypercholesterolemia familial 1 | 家族性高膽固醇 |
| LDLRAP1 | Hypercholesterolemia, familial, 4 | 家族性高膽固醇 |
| LMNA | Cardiomyopathy dilated 1A, Charcot-Marie-Tooth disease type 2B1, Emery-Dreifuss muscular congenital dystrophy, Heart-hand syndrome Slovenian type, Hutchinson-Gilford progeria, Lipodystrophy familial partial type 2, Malouf syndrome, Muscular dystrophy congenital | 心肌病變 |
| LRRC10 | Dilated Cardiomyopathy | 心肌病變 |
| MAP2K1 | Cardiofaciocutaneous syndrome 3 | 心臟面部皮膚綜合症 |
| MAP2K2 | Cardiofaciocutaneous syndrome 4 | 心臟面部皮膚綜合症 |
| MTO1 | Combined oxidative phosphorylation deficiency 10 | 心肌病變 |
| MYBPC3 | Cardiomyopathy dilated 1MM, Cardiomyopathy hypertrophic 4, Left ventricular noncompaction 10 | 心肌病變 |
| MYH6 | Atrial septal defect 3, Cardiomyopathy dilated 1EE, Cardiomyopathy hypertrophic 14, Sick sinus syndrome 3 | 心肌病變 |
| MYH7 | Cardiomyopathy dilated 1S, Cardiomyopathy hypertrophic 1, Laing distal myopathy, Left ventricular noncompaction 5, Myopathy myosinstorage | 心肌病變 |
| MYL2 | Cardiomyopathy hypertrophic 10 | 心肌病變 |
| MYL3 | Cardiomyopathy hypertrophic 8 | 心肌病變 |
| MYLK2 | Cardiomyopathy hypertrophic 1 digenic | 心肌病變 |
| MYOM1 | Cardiomyopathy hypertrophic | 心肌病變 |
| MYOZ2 | Cardiomyopathy hypertrophic 16 | 心肌病變 |
| MYPN | Cardiomyopathy dilated 1KK, Cardiomyopathy familial restrictive 4, Cardiomyopathy hypertrophic 22, Nemaline myopathy 11 autosomal recessive | 心肌病變 |
| NEBL | Endocardial Fibroelastosis | 心內膜纖維化 |
| NEXN | Cardiomyopathy dilated 1CC, Cardiomyopathy hypertrophic 20 | 心肌病變 |
| NF1 | Neurofibromatosis-Noonan syndrome | 努南氏症候群 |
| NKX2-5 | Atrial septal defect 7 with or without AV conduction defects, Conotruncal heart malformations variable, Hypoplastic left heart syndrome 2, Tetralogy of Fallot, Ventricular septal defect 3 | 心律不整, 心房中膈缺損 |
| NPPA | Atrial fibrillation familial 6, Atrial standstill 2 | 心房顫動 |
| NRAS | Noonan syndrome 6 | 努南氏症候群 |
| PCSK9 | Hypercholesterolemia familial 3 | 家族性高膽固醇 |
| PDLIM3 | Cardiomyopathy hypertrophic, Cardiomyopathy, dilated | 心肌病變 |
| PKP2 | Arrhythmogenic right ventricular dysplasia 9 | 心肌病變 |
| PLEKHM2 | Left Ventricular Noncompaction, Dilated Cardiomyopathy | 心肌病變 |
| PLN | Cardiomyopathy dilated 1P, Cardiomyopathy hypertrophic 18 | 心肌病變 |
| PRDM16 | Cardiomyopathy dilated 1LL, Left ventricular noncompaction 8 | 心肌病變 |
| PRKAG2 | Cardiomyopathy hypertrophic 6, Glycogen storage disease of heart lethal congenital, Wolff-Parkinson- White syndrome | 心肌病變 |
| PTPN11 | LEOPARD syndrome 1, Noonan syndrome 1 | 努南氏症候群 |
| RAF1 | Cardiomyopathy dilated 1NN, LEOPARD syndrome 2, Noonan syndrome 5 | 心肌病變, 努南氏症候群 |
| RANGRF | Brugada syndrome | 心律不整 |
| RASA1 | Capillary malformation-arteriovenous malformation 1 | 毛細血管動靜脈畸形 |
| RBM20 | Cardiomyopathy dilated 1DD | 心肌病變 |
| RIT1 | Noonan syndrome 8 | 努南氏症候群 |
| RRAS | Noonan syndrome | 努南氏症候群 |
| RYR2 | Arrhythmogenic right ventricular dysplasia 2, Ventricular tachycardia catecholaminergic polymorphic 1 | 心律不整 |
| SCN10A | Heart block, Episodic pain syndrome familial 2 | 心律不整 |
| SCN1B | Atrial fibrillation familial 13, Brugada syndrome 5, Cardiac conduction defect nonspecific | 心房顫動 |
| SCN2B | Atrial fibrillation familial 14 | 心房顫動 |
| SCN3B | Atrial fibrillation familial 16, Brugada syndrome 7 | 心房顫動 |
| SCN4B | Atrial fibrillation familial 17, Long QT syndrome-10 | 心房顫動 |
| SCN5A | Atrial fibrillation familial 10, Brugada syndrome 1, Cardiomyopathy dilated 1E, Heart block, Long QT syndrome-3, Sick sinus syndrome 1, Susceptibility to Sudden infant death syndrome, Ventricular fibrillation familial 1 | 心律不整 |
| SDHA | Cardiomyopathy dilated 1GG, Leigh syndrome, Mitochondrial respiratory chain complex II deficiency | 心肌病變 |
| SEMA3A | Brugada syndrome | 心律不整 |
| SGCD | Cardiomyopathy dilated 1L, Muscular dystrophy limb- girdle autosomal recessive 6 | 心肌病變 |
| SHOC2 | Noonan syndrome-like with loose anagen hair | 努南氏症候群 |
| SLC22A5 | Carnitine deficiency systemic primary | 原發性肉鹼缺乏症 |
| SLMAP | Brugada syndrome | 心律不整 |
| SNTA1 | Long QT syndrome 12 | 心律不整 |
| SOS1 | Noonan syndrome 4 | 努南氏症候群 |
| SOS2 | Noonan syndrome 9 | 努南氏症候群 |
| SPRED1 | Legius syndrome | 雷吉士症候群 |
| TAZ | Barth syndrome | 巴氏症候群 |
| TBX20 | Atrial septal defect 4, Cardiomyopathy hypertrophic, Cardiomyopathy dilated, LV Noncompaction | 心律不整, 心房中膈缺損 |
| TCAP | Cardiomyopathy hypertrophic 25, Muscular dystrophy limb-girdle autosomal recessive 7 | 心肌病變 |
| TGFB3 | Arrhythmogenic right ventricular dysplasia 1, Loeys-Dietz syndrome 5 | 心肌病變 |
| TMEM43 | Arrhythmogenic right ventricular dysplasia 5, Emery- Dreifuss muscular dystrophy 7 | 心肌病變 |
| TMEM70 | Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 粒線體病變 |
| TMPO | Dilated Cardiomyopathy | 心肌病變 |
| TNNC1 | Cardiomyopathy dilated 1Z, Cardiomyopathy hypertrophic 13 | 心肌病變, 心律不整 |
| TNNI3 | Cardiomyopathy dilated 1FF, Cardiomyopathy dilated 2A, Cardiomyopathy familial restrictive 1, Cardiomyopathy hypertrophic 7 | 心肌病變 |
| TNNT2 | Cardiomyopathy dilated 1D, Cardiomyopathy familial restrictive 3, Cardiomyopathy hypertrophic 2, Left ventricular noncompaction 6 | 心肌病變 |
| TPM1 | Cardiomyopathy dilated 1Y, Cardiomyopathy hypertrophic 3, Left ventricular noncompaction 9 | 心肌病變 |
| TRDN | Ventricular tachycardia catecholaminergic polymorphic 5 | 心律不整 |
| TRPM4 | Progressive familial heart block type IB | 心律不整 |
| TTN | Cardiomyopathy dilated 1G, Cardiomyopathy familial hypertrophic 9, Muscular dystrophy limb-girdle autosomal recessive 10, Salih myopathy | 心肌病變 |
| TTR | Amyloidosis hereditary transthyretin-related | 類澱粉多發性神經病變 |
| TXNRD2 | Glucocorticoid deficiency 5, dilated cardiomyopathy | 心肌病變 |
| VCL | Cardiomyopathy dilated 1W, Cardiomyopathy hypertrophic 15 | 心肌病變 |
結締組織
| 基因名 | 相關疾病 | 疾病中文名 |
| ABL1 | Congenital heart defects and skeletal malformations syndrome | 先天性心臟病 |
| ACTA2 | Aortic aneurysm familial thoracic 6, Moyamoya disease 5, Multisystemic smooth muscle dysfunction syndrome | 動脈病變 |
| ADAMTS2 | Ehlers-Danlos syndrome dermatosparaxis type | 鬆皮症 |
| ALDH18A1 | Cutis laxa, Spastic paraplegia | 皮膚鬆弛症 |
| ATP6V0A2 | Cutis laxa, Wrinkly skin syndrome | 皮膚鬆馳症 |
| ATP7A | Menkes disease, Occipital horn syndrome, Spinal muscular atrophy distal X-linked 3 | 皮膚鬆馳症、Menkes症候群 |
| B3GALT6 | Ehlers-Danlos syndrome spondylodysplastic type 2, Spondyloepimetaphyseal dysplasia | 鬆皮症 |
| B4GALT7 | Ehlers-Danlos syndrome spondylodysplastic type 1 | 鬆皮症 |
| CBS | Homocystinuria B6-responsive and nonresponsive types, Thrombosis hyperhomocysteinemic | 高胱胺酸血症 |
| CHST14 | Ehlers-Danlos syndrome musculocontractural type 1 | 鬆皮症 |
| COL11A1 | Fibrochondrogenesis 1, Deafness autosomal dominant 37, Marshall syndrome, Stickler syndrome type II | 纖維軟骨增生及耳聾 |
| COL11A2 | Fibrochondrogenesis 2, Deafness, Otospondylomegaepiphyseal dysplasia | 纖維軟骨增生及耳聾 |
| COL1A1 | Ehlers-Danlos syndrome arthrochalasia type 1, Bone mineral density variation QTL osteoporosis, Caffey disease, Osteogenesis imperfecta | 鬆皮症 |
| COL1A2 | Ehlers-Danlos syndrome arthrochalasia type 2, Ehlers-Danlos syndrome cardiac valvular type, Osteogenesis imperfecta | 鬆皮症 |
| COL2A1 | Achondrogenesis type II or hypochondrogenesis, Avascular necrosis of the femoral head, Czech dysplasia, Epiphyseal dysplasia multiple with myopia and deafness, Kniest dysplasia, Legg-Calve-Perthes disease, Osteoarthritis with mild chondrodysplasia, Platyspondylic skeletal dysplasia Torrance type, SED congenita, SMED Strudwick type, Spondyloperipheral dysplasia, Stickler syndrome type I | 軟骨生成不全 |
| COL3A1 | Ehlers-Danlos syndrome vascular type, Polymicrogyria with or without vascular-type EDS | 動脈病變 |
| COL5A1 | Ehlers-Danlos syndrome classic type 1 | 鬆皮症 |
| COL5A2 | Ehlers-Danlos syndrome classic type 2 | 鬆皮症 |
| COL9A1 | Epiphyseal dysplasia multiple 6, Stickler syndrome type IV | 斯蒂克勒綜合症 |
| COL9A2 | Epiphyseal dysplasia multiple 2, Stickler syndrome type V | 斯蒂克勒綜合症 |
| CRTAP | Osteogenesis imperfecta type VII | 成骨不全症 |
| DSE | Ehlers-Danlos syndrome musculocontractural type 2 | 鬆皮症 |
| EFEMP2 | Cutis laxa autosomal recessive type IB | 皮膚鬆弛症 |
| ELN | Cutis laxa, Supravalvar aortic stenosis | 主動脈瓣膜狹窄 |
| FBLN5 | Cutis laxa, Macular degeneration age-related 3, Neuropathy hereditary with or without age-related macular degeneration | 皮膚鬆弛症 |
| FBN1 | Acromicric dysplasia, Ectopia lentis familial, Geleophysic dysplasia 2, MASS syndrome, Marfan lipodystrophy syndrome, Marfan syndrome, Stiff skin syndrome, Weill-Marchesani syndrome 2 | 動脈病變 |
| FBN2 | Contractural arachnodactyly congenital, Macular degeneration early-onset | 先天性攣縮蜘蛛樣指 |
| FKBP14 | Ehlers-Danlos syndrome kyphoscoliotic type 2 | 鬆皮症 |
| FLNA | Cardiac valvular dysplasia X-linked, Congenital short bowel syndrome, FG syndrome 2, Frontometaphyseal dysplasia 1, Heterotopia periventricular 1, Intestinal pseudoobstruction neuronal, Melnick-Needles syndrome, Otopalatodigital syndromeTerminal osseous dysplasia | 額骨骺發育異常 |
| FOXE3 | Susceptibility to aortic aneurysm familial thoracic 11, Cataract 34 multiple types, Anterior segment dysgenesis 2, multiple subtypes | 胸主動脈瘤 |
| LTBP4 | Cutis laxa autosomal recessive type IC | 皮膚鬆弛症 |
| MAT2A | Thoracic aortic aneurysms | 胸主動脈瘤 |
| MED12 | Lujan-Fryns syndrome, Ohdo syndrome X-linked, Opitz-Kaveggia syndrome | 結諦及神經組織發育異常 |
| MFAP5 | Aortic aneurysm familial thoracic 9 | 主動脈瘤 |
| MYH11 | Aortic aneurysm familial thoracic 4 | 動脈病變 |
| MYLK | Aortic aneurysm familial thoracic 7 | 動脈病變 |
| NOTCH1 | Adams-Oliver syndrome 5, Aortic valve disease 1 | 主動脈瓣膜疾病 |
| P3H1 | Osteogenesis imperfecta type VIII | 成骨發育不全症 |
| PLOD1 | Ehlers-Danlos syndrome kyphoscoliotic type 1 | 鬆皮症 |
| PRDM5 | Brittle cornea syndrome 2 | 鬆皮症 |
| PRKG1 | Aortic aneurysm familial thoracic 8 | 動脈病變 |
| PYCR1 | Cutis laxa autosomal recessive type IIB, Cutis laxa autosomal recessive type IIIB | 皮膚鬆弛症 |
| RASA1 | Basal cell carcinoma somatic, Capillary malformation-arteriovenous malformation 1 | 血管畸形症 |
| RIN2 | Macrocephaly alopecia cutis laxa and scoliosis | 皮膚鬆弛症 |
| SKI | Shprintzen-Goldberg syndrome | 顏面及骨骼神經異常 |
| SLC2A10 | Arterial tortuosity syndrome | 主動脈血管扭曲 |
| SLC39A13 | Ehlers-Danlos syndrome spondylodysplastic type 3 | 鬆皮症 |
| SMAD3 | Loeys-Dietz syndrome 3 | 動脈病變 |
| SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome, Pancreatic cancer somatic, Polyposis juvenile intestinal | 出血性血管擴張症 |
| SMAD6 | Aortic valve disease 2, Craniosynostosis 7 susceptibility to | 顱縫早閉, 動脈瓣膜病變 |
| TGFB2 | Loeys-Dietz syndrome 4 | Loeys-Dietz 症候群 |
| TGFB3 | Arrhythmogenic right ventricular dysplasia 1, Loeys-Dietz syndrome 5 | Loeys-Dietz 症候群 |
| TGFBR1 | Loeys-Dietz syndrome 1, Susceptibility to multiple self-healing squamous epithelioma | 動脈病變 |
| TGFBR2 | Colorectal cancer hereditary nonpolyposis type 6, Esophageal cancer somatic, Loeys-Dietz syndrome 2 | 動脈病變 |
| TRAF7 | Cardiac, facial, and digital anomalies with developmental delay | 發育遲緩症 |
| ZNF469 | Brittle cornea syndrome 1 | 鬆皮症 |
糖尿病和肥胖及代謝
| 基因名 | 相關疾病 | 疾病中文名 |
| ABCC8 | Diabetes mellitus permanent neonatal, Diabetes mellitus noninsulin-dependent, Diabetes mellitus transient neonatal 2, Hyperinsulinemic hypoglycemia familial 1, Hypoglycemia of infancy leucine-sensitive | 糖尿病 |
| APPL1 | Maturity-onset diabetes of the young type 14 | 糖尿病 |
| BLK | Maturity-onset diabetes of the young type 11 | 糖尿病 |
| CEL | Maturity-onset diabetes of the young type VIII | 糖尿病 |
| DYRK1B | Abdominal obesity-metabolic syndrome 3 | 肥胖症 |
| EIF2AK3 | Wolcott-Rallison syndrome | Wolcott-Rallison症候群 |
| FOXP3 | Immunodysregulation polyendocrinopathy and enteropathy X- linked | 第一型糖尿病, 免疫失調 |
| GATA6 | Pancreatic agenesis and congenital heart defects | 胰臟發育不全, 先天性心臟病 |
| GCK | Diabetes mellitus noninsulin-dependent late onset, Diabetes mellitus permanent neonatal, MODY type II, Hyperinsulinemic hypoglycemia familial 3 | 糖尿病 |
| GLIS3 | Diabetes mellitus neonatal with congenital hypothyroidism | 糖尿病, 先天性低甲狀腺素症 |
| HNF1A | Diabetes mellitus insulin-dependent, MODY type III, Hepatic adenoma somatic, Renal cell carcinoma, Diabetes mellitus insulin-dependent 20, Diabetes mellitus noninsulin-dependent 2 | 糖尿病 |
| HNF1B | Diabetes mellitus noninsulin-dependent, Renal cysts and diabetes syndrome | 糖尿病 |
| HNF4A | Diabetes mellitus noninsulin-dependen, MODY type I, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 糖尿病 |
| INS | Maturity-onset diabetes of the young type 10, Hyperproinsulinemia, Diabetes mellitus insulin-dependent 2, Diabetes mellitus permanent neonatal | 糖尿病 |
| KCNJ11 | Maturity-onset diabetes of the young type 13, Diabetes mellitus type 2 susceptibility to, Diabetes permanent neonatal with or without neurologic features, Diabetes mellitus transient neonatal 3, Hyperinsulinemic hypoglycemia familial 2 | 糖尿病 |
| KLF11 | Maturity-onset diabetes of the young type VII | 糖尿病 |
| LEP | Obesity morbid due to leptin deficiency | 肥胖症 |
| LEPR | Obesity morbid due to leptin receptor deficiency | 肥胖症 |
| MC4R | Obesity | 肥胖症 |
| NEUROD1 | Maturity-onset diabetes of the young 6, Diabetes mellitus noninsulin-dependent | 年青人成年型糖尿病, 第二型糖尿病 |
| NR0B2 | Obesity mild early-onset | 肥胖症 |
| NTRK2 | Obesity hyperphagia and developmental delay | 肥胖症, 發展遲緩 |
| PAX4 | Maturity-onset diabetes of the young type IX, Diabetes mellitus type 2, susceptibility to diabetes mellitus ketosis-prone | 年青人成年型糖尿病, 第二型糖尿病 |
| PCSK1 | Obesity susceptibility to BMIQ12, Obesity with impaired prohormone processing | 肥胖症 |
| PDX1 | Susceptibility to Diabetes mellitus type II, Pancreatic agenesis 1, MODY type IV | 糖尿病, 胰臟發育不全 |
| POMC | Susceptibility to Obesity early-onset, Obesity adrenal insufficiency and red hair due to POMC deficiency | 肥胖症及POMC缺乏症 |
| PPARG | Diabetes type 2, Insulin resistance severe digenic, Obesity severe, Lipodystrophy familial partial type 3 | 第二型糖尿病, 肥胖症 |
| PTF1A | Pancreatic and cerebellar agenesis, Pancreatic agenesis 2 | 糖尿病, 胰臟及小腦發育不全 |
| RFX6 | Mitchell-Riley syndrome | Mitchell-riley症候群 |
| SIM1 | Obesity | 肥胖症 |
| SLC19A2 | Thiamine-responsive megaloblastic anemia syndrome | 糖尿病, 貧血 |
| SLC2A2 | Diabetes mellitus noninsulin-dependent, Fanconi-Bickel syndrome | 非胰島素依賴型糖尿病 |
| UCP3 | Obesity severe and type II diabetes | 肥胖症, 第二型糖尿病 |
| WFS1 | Diabetes mellitus noninsulin-dependent, Wolfram syndrome 1 | 非胰島素依賴型糖尿病, Wolfram氏症候群 |
| ATP7B | Wilson disease | 威爾森氏症 |
| CACNA1S | Malignant hyperthermia susceptibility | 惡性高溫 |
| RYR1 | Malignant hyperthermia susceptibility | 惡性高溫 |
| OTC | Ornithine transcarbamylase deficiency | OTC缺乏症 |
視覺及聽覺基因
| 基因名 | 相關疾病 | 疾病中文名 |
| BEST1 | Bestrophinopathy | 視網膜病變 |
| C1QTNF5 | Retinal degeneration, late-onset | 視網膜病變 |
| CTNNA1 | Macular dystrophy, patterned, 2 | 黃斑部發育不全 |
| IMPG1 | Macular dystrophy, vitelliform, 4 | 黃斑部發育不全 |
| IMPG2 | Macular dystrophy, vitelliform, 5 | 黃斑部發育不全 |
| PRPH2 | Macular dystrophy, patterned, 1 | 黃斑部發育不全 |
| COCH | Deafness | 聽覺喪失 |
| EYA4 | Deafness | 聽覺喪失 |
| POU4F3 | Deafness | 聽覺喪失 |
| SLC17A8 | Deafness | 聽覺喪失 |
遺傳性疾病
| 基因名 | 相關疾病 | 疾病中文名 |
| CFTR | Cystic Fibrosis | 囊狀纖維化 |
| HBB | Beta Hemoglobinopathies (Beta-thalassemia and Sickle Cell) | 鐮刀型貧血 |
| NPC1 | Niemann-Pick Disease | 鞘髓磷脂儲積症 |
| SMPD1 | Niemann-Pick Disease | 鞘髓磷脂儲積症 |
| GBA | Gaucher Disease | 高雪氏症 |
| HEXA | Tay-Sachs Disease | 家族性黑矇癡呆症 |
| DBT | Maple Syrup Urine Disease | 楓糖尿症 |
| BCKDHA | Maple Syrup Urine Disease | 楓糖尿症 |
| BCKDHB | Maple Syrup Urine Disease | 楓糖尿症 |
| G6PC | Glycogen Storage Disease: Type Ia | 肝醣儲積症 |
| PCDH15 | Usher Syndrome | 尤塞氏綜合症 |
| CLRN1 | Usher Syndrome | 尤塞氏綜合症 |
| USH2A | Usher Syndrome | 尤塞氏綜合症 |
| CDH23 | Usher Syndrome | 尤塞氏綜合症 |
| BLM | Bloom Syndrome | 布隆氏症候群 |
| FANCC | Fanconi Anemia | 范可尼氏貧血 |
| IKBKAP | Familial Dysautonomia | 家族性自主神經失調症 |
| ABCC8 | Familial Hyperinsulinism | 家族性胰島素過多症 |
| ASPA | Canavan Disease | 卡納萬病 |
| MCOLN1 | Mucolipidosis IV | 黏脂質症 |
| TMEM216 | Joubert Syndrome | 家族性小腦蚓部發育不全 |