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| List of human genes screened entirely or partly by DHPLC (as of December 2003) | |||
| page 3 of 3 | select page 1 3 | ||
| Gene | MIM# | Disease | Reference |
|---|---|---|---|
| NAB1 | 600800 | Peripheral neuropathy | Venken et al. [2002] |
| NAB2 | 602381 | Peripheral neuropathy | Venken et al. [2002] |
| NBS1 | 602667 | Acute lymphoblastic leukemia (ALL), colorectal carcinoma | Varon et al. [2001] Varon et al. [2002] |
| NCSTN | 605254 | Alzheimer's disease | Dermaut et al. [2002] |
| NDUFV1 | 161015 | Mitochondrial complex I deficiency | Benit et al. [2001b] |
| NDUFV2 | 600532 | Mitochondrial complex I deficiency, bipolar disorder | Benit et al. [2003] Washizuka et al. [2003] |
| NDUFS1 | 157655 | Mitochondrial complex I deficiency | Benit et al. [2001b] |
| NEFL | 162280 | Charcot-Marie-Tooth disease | Jordanova et al. [2003] |
| NF1 | 162200 | Neurofibromatosis type 1 | O'Donovan et al. [1998] Han et al. [2001] De Luca et al. [2002] Luc et al. [2003] Upadhyaya et al. [2003] |
| NF2 | 607379 | Neurofibromatosis type 2, meningioma | Szijan et al. [2003] |
| Notch3 | 600276 | Subcortical ischemic strike and vascular dementia | Escary et al. [2000] |
| NPHS2 | 604766 | Late-onset focal segmental glomerulosclerosis | Tsukaguchi et al. [2002] |
| NR3C1 | 138040 | Atherosclerosis | Cotton and Bray [2001]
Ye et al. [2003] |
| NRAS | 164790 | Acute myeloid leukemia | Bowen et al. [2003] |
| NTF3 | 162660 | Schizophrenia | Hattori et al. [2002] |
| NTS | 162650 | Schizophrenia | Austin et al. [2000b] |
| NTSR1 | 162651 | Schizophrenia | Austin et al. [2000a] |
| OA1 | 300500 | X-linked ocular albinism | Hedge et al. [2002] |
| OCRL | 309000 | Lowe syndrome | Lin et al. [2000] |
| OLR1 | 602601 | Alzheimer disease | Luedecking-Zimmer et al. [2002] |
| OPRM1 | 600018 | Heroin addiction, idiopathic generalized epilepsy | Szeto et al. [2001] Shi et al. [2002] Wilkie et al. [2002] |
| OR2H3 (FAT11) | 600578 | HLA-linked olfactory receptor genes | Eklund et al. [2000] |
| OTX1 | 600036 | Dyslexia | Francks et al. [2002] |
| P14(ARF) | 600160 | Uveal melanoma | Edmunds et al. [2002] |
| P15(INK4B) | 600160 | Uveal melanoma | Edmunds et al. [2002] |
| P16(INK4A) | 600160 | Uveal melanoma | Edmunds et al. [2002] |
| PAH | 261600 | Phenylketonuria | Brautigam et al. [2003] |
| PAI-1 | 173360 | Coronary artery disease | Wang et al. [2003c] |
| PAX6 | 106210 | Microphthalmia, anophthalmia, coloboma | Malandrini et al. [2001] Morrison et al., [2002] |
| PBX1 | 176310 | Diabetes mellitus type 2 | Thameem et al. [2001] |
| PCDH8 | 603580 | Schizophrenia | Bray et al. [2002] |
| PDGFRB | 173410 | Hypereosinophilic syndrome | Pardanani et al. [2003] |
| PKD1 | 601313 | Autosomal dominant polycystic kidney disease | Mizoguchi et al. [2001] Rossetti et al. [2002] |
| PKD2 | 173910 | Autosomal dominant polycystic kidney disease | Rossetti et al. [2002] |
| PKHD1 | 606702 | Autosomal recessive polycystic kidney disease | Onuchic et al. [2002] Ward et al. [2002] Rossetti et al. [2003] |
| PKHDL1 | 263200 | Autosomal recessive polycystic kidney disease | Hogan et al. [2003] |
| PLAGL1 (ZAC) | 603044 | Transient neonatal diabetes mellitus | Mackay et al. [2002] |
| PMM2 | 601785 | Carbohydrate-deficient glycoprotein syndrome type 1A | Erlandson et al. [2000,
2001] Schollen et al. [2002] |
| PMP22 | 601097 | Charcot-Marie-Tooth disease | Takashima et al. [2000, 2001] |
| PPARA | 170998 | Familial combined hyperlipidemia | Eurlings et al. [2002] |
| PRX | 605725 | Dejerine-Sottas neuropathy | Boerkoel et al. [2001] |
| PPOX | 600923 | Variegate porphyria | Whatley et al. [1999] Christiansen et al. [2001] Lam et al. [2001a] |
| PRKAG2 | 600923 | Familial hypertrophic cardiomyopathy (HCM), sporadic Wolff-Parkinson-White symdrome | Blair et al. [2001] Vaughan et al. [2003] |
| PRKCSH | 177060 | Autosomal dominant polycystic liver disease | Li et al. [2003] |
| PRL | 176760 | Multiple sclerosis, systemic lupus erythematosus | Mellai et al. [2003] |
| PRLR | 176761 | Multiple sclerosis, systemic lupus erythematosus | Mellai et al. [2003] |
| PROC | 176860 | Thromboembolism | Taliani et al. [2001] |
| PRPF31 | 600138 | Autosomal dominant retinitis pigmentosa | Vithana et al. [2001] |
| PRSS1 | 276000 | Hereditary pancreatitis, idiopathic chronic pancreatitis | Le Marechal et al. [2001b] Audrézet et al. [2002] |
| PRSS16 | 607169 | Autoimmunity | Lie et al. [2002] |
| PS1 | 104311 | Alzheimer disease | Athan et al. [2001] Xu et al. [2002] |
| PTCH2 (Patched 2) | 603673 | Neuroblastoma, basal cell nevus syndrome | Jogi et al. [2000] Lam et al. [2002a] |
| PTEN/MMAC1 | 601728 | Glioblastoma, endometrial carcinoma | Liu et al. [1997b,
1998] Marsh et al. [2001] Baldinu et al. [2002] |
| PTPN11 | 176876 | Noonan syndrome, LEOPARD syndrome, cardiofaciocutaneous syndrome | Ion et al. [2002] Kosaki et al. [2002] Legius et al. [2002] Tartaglia et al. [2002, 2003] Musante et al. [2003] Schollen et al. [2003] |
| PTPRC | 151460 | Immunodeficiency | Stanton et al. [2003] |
| RAB3A | 179490 | Congestive heart failure | Lynch et al. [2002] |
| RAB4 | 179511 | Congestive heart failure | Lynch et al. [2002] |
| RAB5C | 604037 | Congestive heart failure | Lynch et al. [2002] |
| RAD | 179503 | Congestive heart failure | Lynch et al. [2002] |
| RAGE (AGER) | 600214 | Diabetes mellitus type 2 | Hudson et al. [2001] |
| RASSF1A | 605083 | Medulloblastoma | Lusher et al. [2002] |
| RESISTIN | 605565 | Polycystic ovary sndrome | Urbanek et al. [2003] |
| RET | 164761 | Multiple endocrine neoplasia type 2 | Marsh et al. [2001] |
| RNASEL | 180435 | Prostate cancer | Rennert et al. [2002] |
| RPE65 | 180069 | Leber congenital amaurosis | Hanein et al. [2002] |
| RPGR | 312610 | Retinitis pigmentosa | Koenekoop et al. [2003] |
| RPGRIP1 | 605446 | Leber congenital amaurosis | Gerber et al. [2001] Hanein et al. [2002] |
| RYR1 | 180901 | Malignant hyperthermia | |
| RYR2 | 180902 | Arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2); familial polymorphic ventricular tachycardia | Tiso et al. [2001] Laitinen et al. [2001] |
| SCFR | 164920 | Hypereosinophilic syndrome | Pardanani et al. [2003] |
| SCN1A | 182389 | Myoclonic epilepsy, familial febrile seizures | Claes et al. [2001] Malacarne et al. [2002] Gennaro et al. [2003] |
| SCN5A | 601144 | Brugada syndrome; sudden unexplained nocturnal death syndrome (SUNDS) | Vatta et al. [2002a,
2000b] Valdivia et al. [2002] Mok et al. [2003] |
| SEMA4F | 603706 | Dyslexia | Francks et al. [2002] |
| SHOX | 312865 | Leri-Weill dyschondrosteosis | Ross et al. [2002] |
| SHP | 604630 | Increased birth weight | Hung et al. [2003] |
| SIL | 181590 | Holoprosencephaly | Karkera et al. [2002] |
| SIX3 | 603714 | Microphthalmia, anophthalmia, coloboma | Morrison et al. [2002] |
| SLC11A1 (NRAMP1) | 600266 | Mycobacterium avium-intracellulare pulmonary disease | Huang et al. [1998] |
| SLC11A3 | 604653 | Hyperferritinaemia | Cazzola et al. [2002] Cremonesi et al. [2003b] |
| SLC12A6 (KCC3A) | 604878 | Agenesis of the corpus callosum with peripheral neuropathy | Howard et al. [2002] |
| SLC18A2 | 193001 | Worldwide screen for DNA variation | Glatt et al. [2001] |
| SLC18A3 | 600336 | Late-onset Alzheimer's disease | Harold et al. [2003] |
| SLC22A2 (OCT2) | 602608 | Renal transport of xenobiotics | Leabman et al. [2003] |
| SLC25A1 | 190315 | Schizophrenia | Williams et al. [2002b] |
| SLC26A4 | 274600 | Dendred's syndrome | Prasad et al. [2002] |
| SLC39A1 (ZIRTL) | 604740 | Haemochromatosis | Sebastiani et al. [2003] |
| SLC6A4 | 182138 | Worldwide screen for DNA variation, association with anxiety | Glatt et al. [2001] Hu et al. [2002] |
| SLC26A4 | 274600 | Dendred's syndrome | Prasad et al. [2002] |
| SLC6A4 | 182138 | Worldwide screen for DNA variation, association with anxiety | Glatt et al. [2001] Hu et al. [2002] |
| SMAD4 | 607010 | Uveal melanoma | Edmunds et al. [2002] |
| SMARCB1 (SNF5) | 601607 | Various cancers | Sevenet et al. [1999] |
| SMN1 | 600354 | Spinal muscular atrophy | Mazzei et al. [2002] Sutomo et al. [2002] |
| SNX3 | 605930 | Microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype | Vervoort et al. [2002] |
| SORBS1 | 605264 | Obesity and type-2 diabetes | Lin et al [2002] |
| SOX2 | 184429 | Anophthalmia | Fantes et al. [2003] |
| SPINK1 | 167790 | Idiopathic chronic pancreatitis | Audrézet et al. [2002] |
| SPINK5 | 605010 | Netherton syndrome | Bitoun et al. [2002] |
| SRD5A2 | 607306 | Micropenis | Sasaki et al. [2003] |
| ST7 | 600833 | Cancer | Brown et al. [2002] |
| Stk22A1 | 192430 | Schizophrenia | Williams et al. [2002b] |
| SUOX | 272300 | Sulfocysteinuria | Lam et al. [2002] |
| TCF1 (HNF-1 α) | 142410 | Type II diabetes mellitus, Maturity Onset Diabetes of the Young (MODY) | Boutin et al. [2001] Pruhova et al. [2003] |
| TCF14 (HNF4A) | 600281 | Maturity Onset Diabetes of the Young (MODY) | Pruhova et al. [2003] |
| TCRB | 186930 | Polymorphism and haplotypes | Donaldson et al. [2002] |
| TCRγ | 186970 | Acute lymphoblastic leukemia | Zur Stadt et al. [2001] |
| TCRD | 186810 | Acute lymphoblastic leukemia | Zur Stadt et al. [2003] |
| TDGF1 | 187395 | Holoprosencephaly | De la Cruz et al. [2002] |
| TFP1 | 152310 | Venous thrombosis | Amini-Nekoo et al. [2001] |
| TGFBR2 | 190182 | Uveal melanoma | Edmunds et al. [2002] |
| TGM2 | 190196 | Maturity-onset diabetes (MODY) | Bernassola et al. [2002] |
| TMEFF2 (HPP1) | 605734 | Colorectal cancer | Young et al. [2002] |
| TNF | 191160 | Graft versus host disease | Wang et al. [2002a] |
| TNFRSF1A | 191190 | Tumor necrosis factor receptor-associated periodic syndrome | Dode et al. [2002] |
| TNFRSF1B | 191191 | Familial combined hyperlipidemia | Geurts et al. [2000] |
| TNFRSF6 | 134637 | Follicle center lymphoma | Do et al. [2003] |
| TNNT2 | 191045 | Hypertrophic cardiomyopathy | Ackerman et al. [2002] Van Driest et al. [2002a] |
| TP53 (p53) | 191170 | Various cancers | Gross et al. [2001] Keller et al. [2001] Quintanilla-Martinez et al. [2001] Edmunds et al. [2002] Geoerger et al. [2002] Leonard et al. [2002] Lingle et al. [2002] Narayanaswami et al. [2002] Smith et al. [2002] Tomizawa et al. [2002] Breton et al. [2003] Fricke et al. [2003] Temam et al. [2003] |
| TP73 (p73) | 601990 | Various cancers | Mai et al. [1998] Yokomizo et al. [1999a,b] Liu et al. [2000b] |
| TPM1 | 191010 | Cardiomyopathy | Van Driest et al. 2002a, 2002b] |
| TPMT | 187680 | Drug metabolism | Hall et al. [2001] Schaeffeler et al. [2001] |
| TRX-1 | 187700 | Various human tumor cell lines | Berggren and Powis [2001] |
| TSAP6 | Prostate cancer | Porkka et al. [2003] | |
| TSC1 | 605284 | Mutations in tuberous sclerosis-1 | Jones et al. [1999,
2000, 2001] Benit et al. [2000, 2001a] Dabora et al. [2001] Roberts et al. [2001] Emmerson et al. [2002, 2003] Franz et al. [2002] |
| TSC2 | 191092 | Mutations in tuberous sclerosis-2 | Choy et al. [1999] Jones et al. [1999, 2000, 2001] Dabora et al. [2001] Antonarakis et al. [2002] Emmerson et al. [2002, 2003] Franz et al. [2002] Roberts et al. [2002] |
| T-STAR | 600131 | Childhood absence epilepsy (CAE) | Sugimoto et al. [2001] |
| TTID | 604103 | Limb Girdle Muscular Dystrophy 1A | Hauser et al. [2000] |
| TWIST | 601622 | Craniosynostosis | Elanko et al. [2001] |
| UBE3A | 601623 | Angelman syndrome | Bercovich et al. [2000] |
| UGT1 (UGT1A1) | 191740 | Gilbert syndrome | Pirulli et al. [2000] |
| UNC93A | Epithelial ovarian cancer | Liu et al. [2002b] | |
| USH1C | 605242 | Usher syndrome type 1C | Bitner-Glindzicz et al. [2000] Blaydon et al. [2003] |
| USH3 | 276902 | Usher syndrome type III | Fields et al. [2002] |
| USP9Y (DFFRY) | 400005 | Male infertility and evolution | Sun et al. [1999] Shen et al. [2000] |
| VEGF | 192240 | Amyotrophic lateral sclerosis, DiGeorge syndrome | Lambrecht et al. [2003] Stalmans et al. [2003] |
| VHL | 193300 | Hippel-Lindau disease | Klein et al. [2001] Marsh et al. [2001] Menegatti et al. [2001] Turner et al. [2002] Weirich et al. [2002b] |
| VMD2 | 153700 | Best's vitelliform macular dystrophy | Marchant et al. [2002] |
| WASF3 | 605068 | Neuroblastoma | Sossey-Alaoui et al. [2002b] |
| WFS1 | 606201 | Wolfram syndrome | Colosimo et al. [2002b] Colosimo et al. [2003] |
| WRN | 277700 | Werner syndrome | Passarino et al. [2001] |
| XRCC9 (FANCG) | 602956 | Fanconi anemia | Auerbach et al. [2003] |
| ZNF74 | 194543 | Schizophrenia | Williams et al. [2000] |
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| Human genes screened by DHPLC | ||
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last updated 12/12/2003
| © Stanford Genome Technology Center