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基因数据库

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基因数据库

157556

物种	基因名称	基因别称
小鼠	a - Nonagouti Nonagouti	A,ASIP,ASP,As A<y>, ASIP, ASP, As
小鼠	A030001D20Rik - RIKEN CDNA A030001D20 Gene RIKEN CDNA A030001D20 Gene	1110025D03Rik 1110025D03Rik
小鼠	A030010E16Rik - RIKEN CDNA A030010E16 Gene RIKEN CDNA A030010E16 Gene	- -
小鼠	A130010J15Rik - RIKEN CDNA A130010J15 Gene RIKEN CDNA A130010J15 Gene	- -
小鼠	A130014A01Rik - RIKEN CDNA A130014A01 Gene RIKEN CDNA A130014A01 Gene	- -

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疾病数据库

19056

疾病名称	遗传方式	解剖分类	罕见病	相关基因
A53 Diffuse Large B-Cell Lymphoma A53 Diffuse Large B-Cell Lymphoma	Ot 其它	免疫系统血液		- -
Aapoaii Amyloidosis Aapoaii Amyloidosis	AD 常染色体显性遗传	肾脏骨骼内分泌		APOA2 APOA2
Aarskog Syndrome Aarskog Syndrome	Ot 其它	生殖系统		MCF2,RABIF,PLEK,FGD5,FGD2,CDC42,TSR2,FGD1,FGD3,ARHGEF2 MCF2;RABIF;PLEK;FGD5;FGD2;CDC42;TSR2;FGD1;FGD3;ARHGEF2
Aarskog-Scott Syndrome Aarskog-Scott Syndrome	AD 常染色体显性遗传 AR 常染色体隐性遗传 XLR X染色体隐性遗传	神经系统		FGD4,RABIF,ARHGEF2,SNORD103A,MCF2,PLEK,GLI3,FGD1,TSR2,CDC42 FGD4;RABIF;ARHGEF2;SNORD103A;MCF2;PLEK;GLI3;FGD1;TSR2;CDC42
Aase-Smith Syndrome I Aase-Smith Syndrome I	AD 常染色体显性遗传	神经系统骨骼		- -

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突变数据库

14339480

相关基因	碱基改变	氨基酸改变	转录本ID	突变类型	临床意义	疾病数量	文献数量
CFTR	c.1521_1523del	p.Phe508Del (p.F508del)	NM_000492.4 M MANE Select	Del	致病突变	3 相关疾病： Bronchiectasis with or Without Elevated Sweat Chloride 1 Pancreatitis, Hereditary Vas Deferens, Congenital Bilateral Aplasia of	224
CFTR	c.1521_1523delCTT	--	NM_000492.4 M MANE Select	Del	致病突变	3 相关疾病： Bronchiectasis with or Without Elevated Sweat Chloride 1 Pancreatitis, Hereditary Vas Deferens, Congenital Bilateral Aplasia of	224
CFTR	c.1520_1522delTCT	--	NM_000492.4 M MANE Select	Del	致病突变	3 相关疾病： Bronchiectasis with or Without Elevated Sweat Chloride 1 Pancreatitis, Hereditary Vas Deferens, Congenital Bilateral Aplasia of	224
CFTR	c.1520_1522del	--	NM_000492.4 M MANE Select	Del	致病突变	3 相关疾病： Bronchiectasis with or Without Elevated Sweat Chloride 1 Pancreatitis, Hereditary Vas Deferens, Congenital Bilateral Aplasia of	224
BRCA1	c.68_69delAG	--	NM_007294.4 M MANE Select	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156

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模型数据库

149819

模型类型	模型名称	相关基因	品系来源背景	相关疾病	文献数量
基因敲入	huTFRC/huCD98HC	SLC3A2	C57BL/6NCya	8 Combined T Cell and B Cell Immunodeficiency Combined Immunodeficiency Combined T and B Cell Immunodeficiency Familial Cold Autoinflammatory Syndrome 3 Immunodeficiency 46 Immune Deficiency Disease Protein-Deficiency Anemia Severe Combined Immunodeficiency	--
基因敲入	huTFRC	TFRC	C57BL/6NCya	8 Combined T Cell and B Cell Immunodeficiency Combined Immunodeficiency Combined T and B Cell Immunodeficiency Familial Cold Autoinflammatory Syndrome 3 Immunodeficiency 46 Immune Deficiency Disease Protein-Deficiency Anemia Severe Combined Immunodeficiency	--
基因敲入	hTFRC	TFRC	C57BL/6NCya	8 Combined T Cell and B Cell Immunodeficiency Combined Immunodeficiency Combined T and B Cell Immunodeficiency Familial Cold Autoinflammatory Syndrome 3 Immunodeficiency 46 Immune Deficiency Disease Protein-Deficiency Anemia Severe Combined Immunodeficiency	--
基因敲入	B6-huTFRC/htau	MAPT	C57BL/6Cya	30 Alzheimer's Disease Autism Spectrum Disorder Atypical Progressive Supranuclear Palsy Syndrome Behavioral Variant of Frontotemporal Dementia Classic Progressive Supranuclear Palsy Syndrome Cardiovascular System Disease Cutis Laxa, Autosomal Recessive, Type Iia Dementia Epilepsy, Idiopathic Generalized Epilepsy Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 Frontotemporal Dementia 1 Leukodystrophy Limb-Girdle Muscular Dystrophy Pick Disease of Brain Progressive Supranuclear Palsy Progressive Non-Fluent Aphasia Parkinson Disease, Late-Onset Parkinson-Dementia Syndrome Semantic Dementia Spondyloepimetaphyseal Dysplasia, Strudwick Type Combined T Cell and B Cell Immunodeficiency Combined Immunodeficiency Combined T and B Cell Immunodeficiency Familial Cold Autoinflammatory Syndrome 3 Immunodeficiency 46 Immune Deficiency Disease Protein-Deficiency Anemia Severe Combined Immunodeficiency	--
基因敲入	B6-hTFRC/htau	MAPT	C57BL/6Cya	30 Alzheimer's Disease Autism Spectrum Disorder Atypical Progressive Supranuclear Palsy Syndrome Behavioral Variant of Frontotemporal Dementia Classic Progressive Supranuclear Palsy Syndrome Cardiovascular System Disease Cutis Laxa, Autosomal Recessive, Type Iia Dementia Epilepsy, Idiopathic Generalized Epilepsy Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 Frontotemporal Dementia 1 Leukodystrophy Limb-Girdle Muscular Dystrophy Pick Disease of Brain Progressive Supranuclear Palsy Progressive Non-Fluent Aphasia Parkinson Disease, Late-Onset Parkinson-Dementia Syndrome Semantic Dementia Spondyloepimetaphyseal Dysplasia, Strudwick Type Combined T Cell and B Cell Immunodeficiency Combined Immunodeficiency Combined T and B Cell Immunodeficiency Familial Cold Autoinflammatory Syndrome 3 Immunodeficiency 46 Immune Deficiency Disease Protein-Deficiency Anemia Severe Combined Immunodeficiency	--

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