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Gene Database

Disease Database

Mutation Database

Model Database

Gene Database

157556

Species	Gene Name	Alias
Mouse	a - Nonagouti Nonagouti	A,ASIP,ASP,As A<y>, ASIP, ASP, As
Mouse	A030001D20Rik - RIKEN CDNA A030001D20 Gene RIKEN CDNA A030001D20 Gene	1110025D03Rik 1110025D03Rik
Mouse	A030010E16Rik - RIKEN CDNA A030010E16 Gene RIKEN CDNA A030010E16 Gene	- -
Mouse	A130010J15Rik - RIKEN CDNA A130010J15 Gene RIKEN CDNA A130010J15 Gene	- -
Mouse	A130014A01Rik - RIKEN CDNA A130014A01 Gene RIKEN CDNA A130014A01 Gene	- -

Disease Database

19056

Name	Inheritance	Category	Rare Diseases	Genes
A53 Diffuse Large B-Cell Lymphoma A53 Diffuse Large B-Cell Lymphoma	Ot Others	Immune Blood		- -
Aapoaii Amyloidosis Aapoaii Amyloidosis	AD Autosomal dominant	Nephrological Bone Endocrine		APOA2 APOA2
Aarskog Syndrome Aarskog Syndrome	Ot Others	Reproductive		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 Autosomal dominant AR Autosomal recessive XLR X-linked recessive	Neuronal		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 Autosomal dominant	Neuronal Bone		- -

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Mutation Database

14339480

Genes	Nucleotide	Amino acid	Transcript ID	Mutation Type	Clinical Significance	Disease Count	Publications
CFTR	c.1521_1523del	p.Phe508Del (p.F508del)	NM_000492.4 M MANE Select	Del	P	3 Related Diseases: 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	P	3 Related Diseases: 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	P	3 Related Diseases: 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	P	3 Related Diseases: 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	P	4 Related Diseases: Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156

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Model Database

149819

Category	Name	Genes	Background	Diseases	Publications
Knockin	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	--
Knockin	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	--
Knockin	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	--
Knockin	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	--
Knockin	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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