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119 diseases / 119
All systems
Achondroplasia
软骨发育不全FGFR3Connective & SkeletalResearch
Achromatopsia
全色盲CNGA3OphthalmologyAAV programs
ADA-SCID
ADA缺乏型SCIDADAMetabolic & LysosomalResearch
Alpha-1 antitrypsin deficiency
α1抗胰蛋白酶缺乏症SERPINA1Respiratory / CiliaryAAV programs
Alport syndrome
Alport综合征COL4A3OphthalmologyResearch
Amyotrophic lateral sclerosis, SOD1-related
SOD1相关ALSSOD1Neurological / CNSResearch
Angelman syndrome
安格曼综合征UBE3ANeurological / CNSResearch
Argininosuccinic aciduria
精氨代琥珀酸尿症ASLMetabolic & LysosomalResearch
Aromatic L-amino acid decarboxylase deficiency
AADC缺乏症DDCMetabolic & LysosomalApproved
Ataxia-telangiectasia
共济失调毛细血管扩张症ATMCancer predispositionResearch
Autosomal dominant polycystic kidney disease
常染色体显性多囊肾病PKD1RenalResearch
Bardet-Biedl syndrome
Bardet-Biedl综合征BBS1Respiratory / CiliaryAAV programs
Barth syndrome
Barth综合征TAZMetabolic & LysosomalAAV programs
Becker muscular dystrophy
贝克肌营养不良DMDNeuromuscularAAV programs
Beta-thalassemia
β地中海贫血HBBHematologyApproved
Canavan disease
卡纳万病ASPANeurological / CNSAAV programs
CDKL5 deficiency disorder
CDKL5缺乏症CDKL5Neurological / CNSResearch
Charcot-Marie-Tooth disease type 1A
腓骨肌萎缩症1A型PMP22Neurological / CNSResearch
Charcot-Marie-Tooth disease type 1X
X连锁腓骨肌萎缩症1型GJB1Neurological / CNSResearch
Chediak-Higashi syndrome
Chediak-Higashi综合征LYSTImmunologyResearch
Choroideremia
脉络膜缺失症CHMOphthalmologyAAV programs
Chronic granulomatous disease, X-linked
X连锁慢性肉芽肿病CYBBImmunologyResearch
Citrullinemia type I
瓜氨酸血症I型ASS1Metabolic & LysosomalResearch
CLN2 disease
神经元蜡样脂褐质沉积症2型TPP1Neurological / CNSAAV programs
CLN3 disease
神经元蜡样脂褐质沉积症3型CLN3Neurological / CNSAAV programs
CLN5 disease
神经元蜡样脂褐质沉积症5型CLN5Neurological / CNSAAV programs
CLN7 disease
神经元蜡样脂褐质沉积症7型MFSD8Neurological / CNSAAV programs
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
21羟化酶缺乏症CYP21A2EndocrineResearch
Congenital deafness due to OTOF deficiency
OTOF相关先天性耳聋OTOFHearing & VisionAAV programs
Congenital neutropenia, ELANE-related
ELANE相关先天性中性粒细胞减少症ELANEHematologyResearch
Cornelia de Lange syndrome
Cornelia de Lange综合征NIPBLNeurological / CNSResearch
Crigler-Najjar syndrome type I
克里格勒-纳贾尔综合征I型UGT1A1Metabolic & LysosomalAAV programs
Cystic fibrosis
囊性纤维化CFTRRespiratory / CiliaryResearch
Danon disease
丹农病/达农病LAMP2Metabolic & LysosomalAAV programs
Diamond-Blackfan anemia
Diamond-Blackfan贫血RPS19HematologyResearch
Dravet syndrome
Dravet综合征SCN1ANeurological / CNSAAV programs
Duchenne muscular dystrophy
杜氏肌营养不良DMDNeuromuscularApproved
Ehlers-Danlos syndrome, vascular type
血管型Ehlers-Danlos综合征COL3A1Connective & SkeletalResearch
Epidermolysis bullosa, dystrophic
营养不良型大疱性表皮松解症COL7A1DermatologyApproved
Epidermolysis bullosa, junctional
交界型大疱性表皮松解症LAMA3DermatologyResearch
Fabry disease
法布雷病GLAMetabolic & LysosomalAAV programs
Familial ALS, C9orf72-related
C9orf72相关ALS/FTDC9orf72Neurological / CNSResearch
Familial hemophagocytic lymphohistiocytosis type 2
家族性噬血细胞性淋巴组织细胞增生症2型PRF1ImmunologyResearch
Familial hemophagocytic lymphohistiocytosis type 3
家族性HLH 3型UNC13DImmunologyResearch
Familial hypercholesterolemia
家族性高胆固醇血症LDLRMetabolic & LysosomalResearch
Fanconi anemia complementation group A
Fanconi贫血A型FANCACancer predispositionResearch
Fragile X syndrome
脆性X综合征FMR1Neurological / CNSResearch
Friedreich ataxia
弗里德赖希共济失调FXNNeurological / CNSResearch
Gaucher disease
戈谢病GBA1Metabolic & LysosomalResearch
Giant axonal neuropathy
巨大轴索神经病GANNeurological / CNSAAV programs
GJB2-related hearing loss
GJB2相关耳聋GJB2Hearing & VisionResearch
Glycogen storage disease type Ia
糖原贮积病Ia型G6PC1Metabolic & LysosomalAAV programs
Glycogen storage disease type Ib
糖原贮积病Ib型SLC37A4Metabolic & LysosomalResearch
GM1 gangliosidosis
GM1神经节苷脂贮积症GLB1Metabolic & LysosomalAAV programs
GM2 gangliosidosis Tay-Sachs
泰-萨克斯病HEXAMetabolic & LysosomalAAV programs
Hemophilia A
血友病AF8HematologyAAV programs
Hemophilia B
血友病BF9HematologyApproved
Hereditary angioedema type I/II
遗传性血管性水肿I/II型SERPING1ImmunologyResearch
Hereditary breast and ovarian cancer syndrome
遗传性乳腺卵巢癌综合征BRCA1Cancer predispositionResearch
Hereditary retinal dystrophy, BEST1-related
BEST1相关视网膜病变BEST1OphthalmologyAAV programs
Hereditary transthyretin amyloidosis
遗传性转甲状腺素蛋白淀粉样变TTRMetabolic & LysosomalResearch
Hereditary tyrosinemia type I
遗传性酪氨酸血症I型FAHMetabolic & LysosomalResearch
Homozygous familial hypercholesterolemia
纯合型家族性高胆固醇血症LDLRMetabolic & LysosomalResearch
Huntington disease
亨廷顿病HTTNeurological / CNSResearch
IPEX syndrome
IPEX综合征FOXP3ImmunologyResearch
Joubert syndrome
Joubert综合征AHI1Neurological / CNSResearch
Kabuki syndrome
歌舞伎综合征KMT2DNeurological / CNSResearch
Krabbe disease
克拉伯病GALCNeurological / CNSAAV programs
Leber congenital amaurosis 10
Leber先天性黑矇10型CEP290OphthalmologyAAV programs
Leber congenital amaurosis 2
Leber先天性黑矇2型RPE65OphthalmologyApproved
Leigh syndrome
Leigh综合征SURF1Metabolic & LysosomalResearch
Li-Fraumeni syndrome
Li-Fraumeni综合征TP53Cancer predispositionResearch
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
长链3-羟酰辅酶A脱氢酶缺乏症HADHAMetabolic & LysosomalResearch
Marfan syndrome
马方综合征FBN1Connective & SkeletalResearch
Medium-chain acyl-CoA dehydrogenase deficiency
中链酰基辅酶A脱氢酶缺乏症ACADMMetabolic & LysosomalResearch
MELAS syndrome
MELAS综合征MT-TL1Metabolic & LysosomalResearch
Metachromatic leukodystrophy
异染性脑白质营养不良ARSANeurological / CNSApproved
Methylmalonic acidemia, mut type
甲基丙二酸血症mut型MMUTMetabolic & LysosomalAAV programs
Mitochondrial DNA depletion syndrome, TK2-related
TK2相关线粒体DNA耗竭综合征TK2Metabolic & LysosomalResearch
Mucopolysaccharidosis type I
黏多糖贮积症I型IDUAMetabolic & LysosomalAAV programs
Mucopolysaccharidosis type II
黏多糖贮积症II型IDSMetabolic & LysosomalAAV programs
Mucopolysaccharidosis type IIIA
黏多糖贮积症IIIA型SGSHMetabolic & LysosomalAAV programs
Mucopolysaccharidosis type IIIB
黏多糖贮积症IIIB型NAGLUMetabolic & LysosomalAAV programs
Mucopolysaccharidosis type VI
黏多糖贮积症VI型ARSBMetabolic & LysosomalAAV programs
Neurofibromatosis type 1
1型神经纤维瘤病NF1Cancer predispositionResearch
Neurofibromatosis type 2-related schwannomatosis
2型神经纤维瘤病相关NF2Cancer predispositionResearch
Niemann-Pick disease type C1
尼曼匹克病C1型NPC1Metabolic & LysosomalResearch
Niemann-Pick disease type C2
尼曼匹克病C2型NPC2Metabolic & LysosomalResearch
Noonan syndrome
Noonan综合征PTPN11Other / MultisystemResearch
Ornithine transcarbamylase deficiency
鸟氨酸转氨甲酰酶缺乏症OTCMetabolic & LysosomalAAV programs
Osteogenesis imperfecta
成骨不全症COL1A1Connective & SkeletalResearch
Phelan-McDermid syndrome
Phelan-McDermid综合征SHANK3Neurological / CNSResearch
Phenylketonuria
苯丙酮尿症PAHMetabolic & LysosomalAAV programs
Pitt-Hopkins syndrome
Pitt-Hopkins综合征TCF4Neurological / CNSResearch
Pompe disease
庞贝病/糖原贮积病II型GAANeuromuscularAAV programs
Prader-Willi syndrome
Prader-Willi综合征15q11-q13 imprinting regionNeurological / CNSResearch
Primary ciliary dyskinesia
原发性纤毛运动障碍DNAH5Respiratory / CiliaryResearch
Primary hyperoxaluria type 1
原发性高草酸尿症1型AGXTMetabolic & LysosomalResearch
Progeria, Hutchinson-Gilford
早老症LMNAConnective & SkeletalResearch
Propionic acidemia
丙酸血症PCCAMetabolic & LysosomalAAV programs
Retinoblastoma
视网膜母细胞瘤RB1Cancer predispositionResearch
Rett syndrome
Rett综合征MECP2Neurological / CNSAAV programs
Sandhoff disease
桑德霍夫病HEXBMetabolic & LysosomalAAV programs
Sickle cell disease
镰状细胞病HBBHematologyApproved
Silver-Russell syndrome
Silver-Russell综合征11p15 imprintingEndocrineResearch
Spinal muscular atrophy
脊髓性肌萎缩症SMN1NeuromuscularApproved
Stargardt disease
Stargardt病ABCA4OphthalmologyResearch
Tuberous sclerosis complex
结节性硬化症TSC1Neurological / CNSResearch
Usher syndrome type 1B
Usher综合征1B型MYO7AOphthalmologyResearch
Usher syndrome type 2A
Usher综合征2A型USH2AOphthalmologyResearch
Von Hippel-Lindau disease
von Hippel-Lindau病VHLCancer predispositionResearch
Wilson disease
威尔逊病ATP7BNeurological / CNSAAV programs
Wiskott-Aldrich syndrome
Wiskott-Aldrich综合征WASImmunologyResearch
X-linked adrenoleukodystrophy
X连锁肾上腺脑白质营养不良ABCD1Metabolic & LysosomalResearch
X-linked lymphoproliferative disease type 1
X连锁淋巴增殖病1型SH2D1AImmunologyResearch
X-linked myotubular myopathy
X连锁肌管肌病MTM1NeuromuscularAAV programs
X-linked retinitis pigmentosa
X连锁视网膜色素变性RPGROphthalmologyAAV programs
X-linked severe combined immunodeficiency
X连锁重症联合免疫缺陷IL2RGImmunologyResearch
Xeroderma pigmentosum group A
着色性干皮病A组XPACancer predispositionResearch