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| List of human genes screened entirely or partly by DHPLC (as of December 2003) | |||
| page 2 of 3 | select page 2 | ||
| Gene | MIM# | Disease | Reference |
|---|---|---|---|
| EGR2 | 129010 | Charcot-Marie-Tooth disease | Takashima et al. [2000, 2001] |
| ELA2 (NE) | 130130 | Lung cancer | Taniguchi et al. [2002b] |
ELN |
130160 | Intracranial aneurysm | Hofer et al. [2003] |
| ELOVL4 | 605512 | Stargardt-like macular dystrophy and other macular dystrophy phenotypes | Ayyagari et al. [2001] Bernstein et al. [2001] Zhang et al. [2001] |
| ESR1 | 133430 | Prostate cancer | Cancel-Tassin et al. [2003] |
| ESR2 | 601663 | Isoforms hERß530 and hERß549 | Xu et al. [2003] |
| EXT1 | 133700 | Multiple exostoses | Dobson-Stone et al. [2000] Li et al [2002] |
| EXT2 | 133701 | Multiple exostoses | Dobson-Stone et al. [2000] Li et al. [2002] |
| F11 (Factor XI) | 264900 | Factor XI deficiency | Mitchell et al. [2003] |
| F8C (Factor VIII) | 306700 | Hemophilia A | Oldenburg et al. [2001] Frusconi et al., [2002] Bogdanova et al. [2002] Bicocchi et al. [2003] |
| F9 (Factor IX) | 306900 | Hemophilia B | Castaldo et al. [2003] |
| FAM10A4 | 606796 | B-cell chronic lymphocytic leukemia (BCLL) | Sossey-Alaoui et al. [2002a] |
| FANCA | 227650 | Fanconi anemia group A | Rischewski and Schneppenheim [2001] |
| FBLN1 | 135820 | Vitreoretinal dystrophy | Weigell-Weber et al. [2003] |
| FBLN5 | 604580 | Inherited cuts laxa | Markova et al. [2003] |
| FBN1 | 134797 | Marfan syndrome and related connective tissue disorders | Liu et al. [1997c] Schrijver et al. [1999, 2002a, 2002b] Halliday et al. [200] Matyas et al. [2002] |
| FGFR2 | 176943 | Syndromic craniosynostosis | Kan et al. [2002] |
| FGFR3 | 134934 | Skeletal dysplasia | Hyland et al. [2003] |
| FHIT | 601153 | Peutz-Jeghers syndrome | Zhao et al. [2003] |
| FLNA | 300017 | Diverse congenital malformations | Robertson et al. [2003] |
| FLT3 | 136351 | Acute myeloid leukemia | Bianchini et al. [2003] |
| FOXP2 | 176943 | Autism and specific language impairment | Newbury et al. [2002] |
| FRAXA | 309550 | Fragile X syndrome | Brightwell et al. [2002] |
| FRAXE | 309548 | Fragile X syndrome | Brightwell et al. [2002] |
| FTH1 | 134770 | Hyperferritinemia | Cremonesi et al. [2003a] |
| FTL | 134790 | Hereditary hyperferritinaemia cataract syndrome | Cremonesi et al. [2003b, 2003c] |
| G6PT1 | 602671 | Glycogen storage disease 1 non-A | Lam et al. [2000a] Santer et al. [2000] |
| GABRG2 | 137164 | Myoclonic epilepsy | Gennaro et al. [2003] Madia at al. [2003] Nakayama et al. [2003] |
| GAD2 | 138275 | Type 1 diabetes | Johnson et al.[2002] |
| GCK | 138079 | Type II diabetes mellitus, sudden infant death syndrome, Maturity Onset Diabetes of the Young (MODY) | Boutin et al. [2001] Burchell et al. [2002] Pruhova et al. [2003] |
| GCLC | 254770 | Myoclonic epilepsy | Suzuki et al. [2002] |
| γ-GCS | NA | Lung cancer | Yang et al. [2002] |
| GFAP | 137780 | Alexander disease | Gorospe et al. [2002] |
| GJB1 | 304040 | Charcot-Marie-Tooth disease | Takashima et al. [2000, 2001] |
| GJB2 | 121011 | Hereditary hearing loss | Kelsell et al. [2000] |
| GJB3 | 603324 | Erythrokeratoderma variabilis, hereditary hearing loss | Kelsell et al. [2000] Wilgoss et al. [1999] Mhatre et al. [2003b] |
| GJB4 | 605425 | Erythrokeratoderma variabilis | Richard et al. [2003] |
| GNA11 | 139313 | Congestive heart failure | Lynch et al. [2002] |
| GNAQ | 600998 | Congestive heart failure | Lynch et al. [2002] |
| GNAS | 139320 | Congestive heart failure, Albright hereditary osteodystrophy | Lynch et al. [2002] Rickard & Wilson [2003] |
| GPR75 | NA | Macular degeneration | Sauer et al. [2001] |
| GREAT | 219050 | Cryptorchidism | Gorlov et al. [2002] |
| GRIN1 | 139249 | Schizophrenia | Williams et al. [2002a] |
| GRIN2A | 138253 | Schizophrenia | Williams et al. [2002a] |
| GRIN2B | 138252 | Schizophrenia | Williams et al. [2002a] |
| GRIN2C | 138254 | Schizophrenia | Williams et al. [2002a] |
| GRIN2D | 602717 | Schizophrenia | Williams et al. [2002a] |
| GRM5 | 604102 | Schizophrenia | Devon et al. [2001b] |
| GSC | 138890 | Hemifacial microsomia | Kelberman et al. [2001] |
| GSC1 | 192430 | Schizophrenia | Williams et al. [2002b] |
| GSTP1 | 134660 | Lung cancer | Yang et al. [2002] |
| GSTM1 | 138350 | Lung cancer | Yang et al. [2002] |
| GSTT1 | 600436 | Lung cancer | Yang et al. [2002] |
| GUCY2D | 600179 | Leber congenital amaurosis, retinitis pigmentosa | Hanein et al. [2002] Khaliq et al. [2003] |
| GZMB | 123910 | Apoptosis | McIlroy et al. [2003] |
| HBB | 141900 | β-Thalassemia | Colosimo et al. [2002] Webster et al. [2002] Su et al. [2003a] Wu et al. [2003] Yip et al. [2003] |
| HFE | 235200 | Hereditary hemochromatosis | Le Gac et al. [2001] Liang et al. [2001] Pissard et al. [2002] Toomajian&Kreitman [2002] Fruchon et al. [2003] |
| HLA-A | 142800 | Transplantation | Etokebe et al. [2003] |
| HMBS | 176000 | Acute intermittent porphyria | Lam et al. [2001c] |
| HPRP3 | 601850 | Autosomal dominant retinitis pigmentosa | Chakarova et al. [2002] |
| HRAS1 | 190020 | Congestive heart failure | Lynch et al. [2002] |
| HSPA6 (HSP70B') | 140555 | Prostate cancer | Hecker et al. [2000] |
| HSPCAL4 | 140576 | Autoimmune disease | Passarino et al; [2003] |
| HSPCB | 140572 | Autoimmune disease | Passarino et al. [2003] |
| HUT2 | 601611 | Hypertension | Ranade et al., [2001] |
| HYMA1 | 606546 | Transient neonatal diabetes mellitus | Mackay et al. [2002] |
| IFNGR1 | 107470 | Mycobacterium avium-intracellulare pulmonary disease | Huang et al. [1998] |
| IKBKAP | 603722 | Familial dysautonomia | Lehavi et al. [2003] |
| IL4 | 147780 | Asthma | Kabesch et al. [2003] |
| IL8 | 146930 | Susceptibility to viral bronchiolitis | Hull et al. [2001] |
| IL10 | 124092 | Immunity | D'Alfonso et al. [2000, 2002a] |
| IL13 | 147683 | IL-13 SNPs and total serum IgE levels | Graves et al. [2000] |
| INK4A | 600160 | Melanoma | Orlow et al. [2001] |
| INNSR | 147671 | Type-2 diabetes mellitus | Wolford et al. [2001b] |
| ITGA6 | 147556 | Epidermolysis bullosa | Pfendner et al. [2003] |
| ITGB4 | 147557 | Epidermolysis bullosa | Pfendner et al. [2003] |
| ITGB7 | 147559 | Inflammatory bowel disease | Van Heel et al. [2001] |
| JAG1 | 118450 | Alagille syndrome | Heritage et al. [2002] |
| JAM3 | 606871 | Hypoplastic left heart | Phillips et al., [2002] |
| JRK | 603210 | Childhood absence epilepsy | Morita et al. [1999] |
| K9 | 144200 | Epidermolytic palmoplantar keratoderma | Rugg et al. [2002] |
| KCNE1 | 176261 | Congenital long QT syndrome (LQTS) | Jongbloed et al. [2002] |
| KCNE2 | 603796 | Congenital long QT syndrome (LQTS) | Jongbloed et al. [2002] |
| KCNH2 | 152427 | Congenital long QT syndrome (LQTS) | Jongbloed et al. [2002] |
| KCNJ10 | 602208 | Type 2 diabetes | Farook et al. [2002] |
| KCNQ1 | 192500 | Congenital long QT syndrome (LQTS) | Jongbloed et al. [2002] |
| KCNN3 | 602983 | Schizophrenia | Bowen et al. [2001] |
| KIAA0057 | 254770 | Myoclonic epilepsy | Suzuki et al. [2002] |
| KIT | 606764 | Gastrointestinal stromal tumors (GISTs) | Corless et al. [2002] |
| K-ras | 601599 | Colorectal cancer | Smith et al. [2002] Hunt et al. [2002] |
| KRT1 | 139350 | Palmoplantar keratoderma | Terron-Kwiatkowski et al. [2002] |
| KvLQT1 | 220400 | Jervell and Lange-Nilesen syndrome (JLSN1) | Wang et al. [2002b] |
| LAMA2 | 156225 | Congenital muscular dystrophy | Tezak et al. [2003] |
| LAMA3 | 600805 | Epidermolysis bullosa | Pfendner et al. [2003] |
| LAMB3 | 150310 | Epidermolysis bullosa | Pfendner et al. [2003] |
| LAMC2 | 150292 | Epidermolysis bullosa | Pfendner et al. [2003] |
| LDLR | 143890 | Familial hypercholesterolaemia | Bunn et al. [2002] Bodamer et al. [2002] |
| LHCGR | 152790 | Leydig cell hypoplasia | Richter-Unruh et al. [2002] |
| LIPC | 151670 | Coronary artery disease | Su et al. [2002b, 2003b] |
| LMNA | 150330 | Familial partial lipodystrophy, Type II diabetes mellitus, autosomal dominant dilated cardiomyopathy | Speckman et al. [2000] |
| LPL | 238600 | Coronary atherosclerotic heart disease | Su et al. [2000, 2002b] |
| LRP5 | 603506 | Diabetes mellitus | Twells et al. [2003] |
| LRRC1 | 254770 | Myoclonic epilepsy | Suzuki et al. [2002] |
| MAG | 159460 | Multiple sclerosis | D'Alfonso et al. [2002b] |
| MAPK1 | 176948 | Congestive heart failure | Lynch et al. [2002] |
| MAPT | 157140 | Pick's disease, primary progressive aphasia | Pickering-Brown et al. [2000] Sobrido et al. [2003] |
| MC4R | 155541 | Early-onset obesity | Miraglia Del Giudice et al. [2002] |
| MCCD1 | NA | Polymorphism analysis | Semple et al. [2003] |
| MECP2 | 300005 | Rett syndrome, infantile autism | Buyse et al. [2000] Lam et al. [2000b] Orrico et al. [2000] Girard et al. [2001] Hoffbuhr et al. [2001] Nicolao et al. [2001] Beyer et al. [2002] Yaron et al. [2002] Buyse et al. [2000] Lam et al. [2000b] Orrico et al. [2000] Girard et al. [2001] Hoffbuhr et al. [2001] Nicolao et al. [2001] Beyer et al. [2002] Yaron et al. [2002] Thistlethwaite et al. [2003] |
| MEN1 | 131100 | Multiple endocrine neoplasia type 1 | Park et al. [2003] |
| MEST | 601029 | Autism | Bonora et al. [2002] |
| MET | 164860 | Papillary renal carcinomas, familial gastric cancer | Nickerson et al. [2000,
2001] Lindor et al. [2001] Kim et al. [2003b] |
| MID1 | 300000 | Opitz syndrome | Winter et al. [2003] |
| MIF | 153620 | Systemic-onset juvenile idiopathic arthritis | Donn et al. [2001, 2002] |
| MLC1 (K1AA0027) | 605908 | Megalencephalic leukoencephalopathy with subcortical cysts, schizophrenia | Bettecken et al. [2002] Devaney et al. [2002] Rubie et al. [2003] |
| MLH1 | 120436 | Hereditary nonpolyposis colorectal cancer, endometrial carcinoma | Pawar et al. [2000] Isidro et al. [2003] |
| MLH3 | 604395 | Colorectal cancer | Lipkin et al. [2001] Liu et al. [2003] |
| MMP2 | 120360 | Lung cancer | Yu et al. [2002] |
| MPI | 154550 | Congenital disorder of glycosylation | Schollen et al. [2002] |
| MPDU1 | 604041 | Congenital disorder of glycosylation | Schollen et al. [2002] |
| MPP4 | 606575 | Retinitis pigmentosa | Conte et al. [2002] |
| MPZ | 159440 | Charcot-Marie-Tooth disease | Takashima et al. [2000, 2001] |
| MSH2 | 120435 | Hereditary nonpolyposis colorectal cancer, endometrial carcinoma | Pawar et al. [2000] |
| mtDNA | NA | Mutations in various mitochondrial diseases | McAndrew et al. [2000] van den Bosch et al. [2000] Bayat et al. [2002] Christodoulou et al. [2002] Liu et al. [2002a] Walter et al. [2002] Conley et al. [2003] Danielson et al. [2003] LaBerge et al. [2003] Romano et al. [2003] |
| MTM1 | 310400 | Myotubular myopathy | Flex et al. [2002] Biancalana et al. [2003] |
| MTMR2 | 603557 | Charcot-Marie-Tooth disease type 4B | Bolino et al. [2000,
2001] Nelis et al. [2002] |
| MUTYH | 604933 | Hereditary nonpolyposis colon cancer | Al-Tassan et al. [2002] Jones et al. [2002] |
| MYH7 | 160760 | Familial hypertrophic cardiomyopathy (HCM) | Blair et al. [2002] Ackerman et al., [2002] Van Driest et al. [2002a] |
| MYH9 | 160775 | MYHIIA syndrome, hereditary macro-thrombocytopenia and progressive deafness | Heath et al. [2001] Mhatre et al. [2003a] |
| MYOC | 601652 | Primary open angle glaucoma | Cobb et al. [2002] |
| MYO18B | Lung cancer | Nishioka et al. [2002] | |
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| Human genes screened by DHPLC | ||
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last updated 12/12/2003
| © Stanford Genome Technology Center