GRJ 遺伝子疾患リスト

疾　患		GR	GRJ	備考
		last update	last update
	21-hydroxylase deficiency	2006.9.7	2007.9.21
	22q11.2 deletion syndrome	2005.12.18
	Achondroplasia	2012.2.16	2012.4.15
	Alexander Disease	2007.3.9	2010.2.4
	Alkaptonuria	2011.3.10	2011.4.18
	Alzheimer disease overview	2010.3.30	2010.6.13
	Early-Onset Familial Alzheimer Disease	2007.10.2	2008.3.18
	Androgen insensitivity syndrome	2006.9.19	2007.1.7
	Angelman syndrome	2008.9.8	2009.5.5
	Alpha-thalassemia X-linked mental retardation syndrome	2005.6.14	2006.1.26
	Amyotrophic Lateral Sclerosis Overview	2009.7.28	2010.12.14
	APC-associated polyposis conditions	2008.7.24	2008.12.15
	ATP7A-Related Copper Transport Disorders	2010.10.14	2011.9.23
	Autism overview	2005.12.1	2006.2.10
	Autosomal dominant hereditary polycystic kidney disease	2006.6.6	2006.6.10
	Beckwith-Wiedemann syndrome	2005.9.8
	Best disease	2005.12.05	2004.7.10
	BRCA1/BRCA2 hereditary breast/ovarian cancer	2011.1.20	2011.3.20
	Breast cancer genetics overview	2003.9.11	2003.09.16
	Brugada syndrome	2007.12.7	2009.4.1
	Canavan disease	2006.3.15	2008.3.24.
	Carney complex	2005.3.22	2005.12.15
	Carnitine Palmitoyltransferase 1A Deficiency	2007.9.24	2009. 2.14
	Carnitine Palmitoyltransferase II Deficiency	2009.6.25	2009.8.2
	CFC syndrome	20010.12.23
	Charcot-Marie-Tooth hereditary neuropathy overview	2012.2.4	2012.4.7
	Charcot-Marie-Toothneuropathy Type 1	2007.12.18
	Charcot-Marie-Toothneuropathy Type 2	2008.1.7
	Charcot-Marie-Toothneuropathy Type 4	2009.4.30
	Cockeyne syndrome	2006.3.07	2006.7.31
	Congenital muscular dystrophy overview	2006.12.22	2007.3.31
	Coffin-Lowry Syndrome	2009.1.15	2010.5.15
	Congenital Contractural Arachnodactyly	2007.5.4	2012.2.10
	Cornelia de Lange Syndrome	2006.8.14	2011.9.23
	Costello syndrome	2009.5.19
	Deafness and hereditary hearing loss overview	2008.12.2	2009.7.20
	Dilated Cardiomyopathy Overview	2008.7.10	2009.3.19
	DRPLA	2010.6.1	2011.3.7
	Dystrophinopathies	2008.3.21	2009.12.13
	Dystonia overview	2006.01.23	2010.2.18
	Dystrophic epidermolysis bullosa	2010.11.4	2011.3.7
	Ehlers-Danlos syndrome, classic type	2008.7.24	2009.1.8
	Ehlers-Danlos Syndrome, Hypermobility Type	2010.4.27	2010.5.31
	Ehlers-Danlos syndrome, vascular type	2006.6.07	2007.9.1
	Emanuel Syndrome	2010.5.11	2010.7.20
	Fabry disease	2008.2.26	2008.2.29
	Familial adenomatous polyposis	2004.9.20	2005.10.03
	Familial Mediterranean Fever	2008. 2.25	2008. 5.13
	Familial Paroxysmal Kinesigenic Dyskinesia	2011.3.31	2011.6.26
	Familial Transthyretin Amyloidosis	2009.9.15	2011.4.4
	FGFR-Related Craniosynostosis Syndromes	2006.1.09	2006.12.22
	FMR-1 related disorders	2005.12.02	2006.02.14
	Gaucher Disease	2008.3.13	2008.5.1
	Glycogen Storage Disease Type II (Pompe Disease)	2008.8.5	2009.4.3
	Hemophilia A	2005.8.17	2006.1.31
	Hemophilia B	2005.8.17	2006.9.15
	Hereditary ataxia overview	2009.1.6	2006.8.27
	Hereditary diffuse gastric cancer	2011.6.11	2012.1.19
	Hereditary hemorrhagic telangiectasia	2009.05.19	2010.3.28
	Hereditary Multiple Osteochondromas	2008.9.5	2011.4.26
	Hereditary nonpolyposis colon cancer	2006.11.29	2007.1.7
	hereditary paraganglioma-pheochromocytoma syndrome	2008.5.21	2008.9.1
	Hereditary Sensory and Autonomic Neuropathy IV	2008.8.5	2010.2.14
	Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency	2011.4.26	2012.3.12
	Huntington disease	2010.4.22	2010.6.16
	Hydroxymethylbilane Synthase (HMBS) Deficiency	2010.3.23	2010.4.19
	Hyperkalemic Periodic Paralysis Type 1	2009.8.11	2011.1.10
	Hypokalemic Periodic Paralysis	2009.4.28	2011.2.3
	Hypophosphatasia	2007.1110	2009.4.21
	Joubert Syndrome	2007.3.8	2011.8.18
	Juvenile Polyposis Syndrome	2008.9.9	2010.8.27
	Limb-Girdle Muscular Dystrophy Overview	2008.9.2	2009.3.11
	Li-Fraumeni syndrome	2010.2.9	2011.3.9
	Loeys-Dietz Syndrome	2008.4.29.	2009.11.10
	Marfan syndrome	2005.10.26	2006.8.3
	MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency	2010.3.9	2010.4.13
	MELAS	2005.10.13	2006.02.06
	MECP2-Related Disorders	2009.4.2	2010.3.3
	Mitochondrial disorders overview	2006.2.21.	2007.3.29
	Mucopolysaccharidosis Type I	2011.7.21	2012.4.23
	Mucopolysaccharidosis Type II	2011.2.22	2012.4.28
	Multiple endocrine neoplasia type 1	2010.3.2	2010.3.25
	Multiple endocrine neoplasia type 2	2010.5.4	2010.6.1
	Multiple Sclerosis Overview	2010.5.11	2011.11.22
	Myotonia congenita	2008.7.8	2011.2.3
	Myotonic dystrophy Type 1	2011.2.8	2011.3.20
	Myotonic Dystrophy Type 2 (DM2)	2007.4.23	2011.2.3
	Nephrogenic diabetes insipidus	2007.3.08	2007.5.14
	Neurofibromatosis 1	2009.6.2	2011.10.17
	Neurofibromatosis 2	2011.8.18	2012.1.2
	Nevoid Basal Cell Carcinoma Syndrome	2010.7.22.	2011.5.1
	Noonan syndrome	2008.10.8	2009.4.5
	The Organic Acidemias: An Overview	2007.6.26	2009.1.10
	OTOF-Related Deafness	2011.6.14	2011.9.10
	Parkinson Disease Overview	2007.10.2	2008.3.24
	Parkin Type of Juvenile Parkinson Disease	2007.10.1	2008.3.24
	Pelizaeus-Merzbacher disease	2006.09.15
	Pendred Syndrome/DFNB4	2009.4.2	2009.10.20
	Phenylalanine hydroxylase deficiency	2005.7.19	2007.3.29
	Prader-Willi syndrome	2008.3.24	2009.5.31
	PROP1-related combined pituitary hormone deficiency	2005.11.21	2006.1.4
	PTEN Hamartoma Tumor Syndrome (PHTS)	2009.5.5	2011.5.22
	Pyridoxine-Dependent Seizures	2009.11.10	2012.1.31
	Pyruvate Carboxylase Deficiency	2011.7.11	2009.12.25.
	Peutz-Jeghers Syndrome	2011.2.22	2011.3.1
	RASA1-Related Disorders	2011.2.22	2011.4.24
	Red-green color vision defects	2005.9.19	2006.1.31
	Retinoblastoma	2005.1.21	2003.8.20
	Retinitis Pigmentosa Overview	2005.9.16	2010.11.7
	RETT syndrome	2004.2.11	2006.1.25
	Romano-Ward syndrome	2009.8.4
	Rubinsterin-Taybi syndrome	2005.12.20	2005.1.13
	Schimke Immunoosseous Dysplasia	2011.3.22	2011.5.5
	Smith-Magenis syndrome	2006.08.11	2009.12.10
	Sotos Syndrome	2007.3.23	2009.3.10
	Spinal and bulbar muscular atrophy	2004.6.1	2005.1.25
	Spinal muscular atrophy	2011.1.7
	Spinocerebellar ataxia type 2	2006.1.25	2006.7.3
	Spinocerebellar ataxia type 3	2003.9.30	2004.6.5
	Transthyretin amyloidosis	2006.3.15	2006.6.1
	Thanatophoric dysplasia	2008.9.30	2010.9.5
	Tuberous sclerosis Cmplex	2011.11.23	2012.5.3.
	Urea Cycle Disorders Overview	2005.8.11	2007.7.11
	Usher Syndrome Type I	1999.12.10	2009.10.20
	Von Hippel-Lindau disease	2007.3.20	2005.10.27
	von Willebrand disease	2009.6.4	2010.7.13
	Werner syndrome	2007.3.8	2011.5.17
	Wilson disease	2006.1.24	2008.5.1
	Wolf-Hirschhorn syndrome	2009.3.24	2010.1.18
	Xeroderma pigmentosum	2012.3.15	2012.5.1
	X-Linked Adrenoleukodystrophy [X-ALD. Includes: Adrenomyeloneuropathy }(AMN)	2009.6.2	2010.7.19
	Y chromosome infertility	2002.10.31	2003.8.31