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List of human genes screened entirely or partly by DHPLC (as of December 2003)
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Gene MIM# Disease Reference
1C7 109170 Immune response Ribas et al. [2001]
ABCA4 (ABCR) 601691 Macular degeneration

Rivera et al. [2000]
Gerth et al. [2002]
Rudolph et al. [2002]
Cremonesi et al. [2003b]
Schmidt et al. [2003]

ABCB1 (MDR1) 171050 Parkinson's disease Furuno et al. [2002]
ABCG1 603076 Bipolar affective disorder Kirov et al. [2001]
ABCG2 (BCRP) 603756 Drug efflux transporter Backstroem et al. [2003]
ADRB2 109690 Asthma, chronic obstructive pulmonary disease, congestive heart failure Yoshida et al. [2002]
Lynch et al. [2002]
AGXT 259900 Hyperoxaluria type 1 Pirulli et al. [2001]
AHRR 606517 Micropenis Fujita et al. [2002]
AIPL1 604392 Leber congenital amaurosis, retinitis pigmentosa Hanein et al. [2002]
Khaliq et al. [2003]
AKT1 164730 TypeII diabetes Matsubara et al. [2001]
ALAD 125270 Lead poisoning Niu et al. [2001]
ALAP 145500 Essential hypertension Yamamoto et al. [2002]
ALG3 601110 Congenital disorder of glycosylation Schollen et al. [2002]
ALG6 604566 Congenital disorder of glycosylation Schollen et al. [2002]
ALS2 205100 Amyotrophic lateral sclerosis 2 Hadano et al. [2001]
APC 175100 Adenomatous polyposis, desmoid tumor Wu et al. [2001]
Eccles et al. [2001]
Al-Tassan et al. [2002]
Gavert et al. [2002]
Jones et al. [2002]
Smith et al. [2002]
Young et al. [2002]
Emmerson et al. [2003]
Heinritz et al. [2003]
Mihalatos et al. [2003]
APCS 104770 Type 2 diabetes mellitus Wolford et al. [2003]
APM1 605441 Type 2 diabetes mellitus Vasseur et al. [2002]
APOD 107740 Lipid Metabolism Desai et al. [2002]
APOH 138700 Regulation of ß2-glycoprotein I expression Mehdi et al. [2003]
AR 313700 Micropenis

Ishii et al. [2001]
Muroya et al. [2001]

ARIX (PHOX2A) 602753 Congenital fibrosis of the extraocular muscles (CFEOM2) Nakano et al. [2001]
ARPKD 263200 Recessive polycystic kidney disease Furu et al. [2003]
ARX 300382 X-linked mental retardation Bienvenue et al. [2002]
ASAH 228000 Prostate cancer Seelan et al. [2000]
ATM 208900 Ataxia-telangiectasia
Hereditary breast and ovarian cancer
Sporadic breast cancer
Thorstenson et al. [2000, 2001, 2003]
Teraoka et al. [2001]
Atencio et al. [2001]
Iannuzzi et al. [2002]
Offit et al. [2002]
Bernstein et al. [2003 a, b ]
Mitui et al. [2003]
Pause et al. [2003]
ATP1A2 182340 Familial hemiplegic migraine type 2 De Fusco et al. [2003]
ATP2A2 108740 Darier's disease Jacobsen et al. [1999, 2001b]
Jones et al. [2002]
ATP6V1B1 192132 Autosomal recessive distal renal tubular acidosis with hearing loss Stover et al. [2002]
ATP6V0A4 605239 Autosomal recessive distal renal tubular acidosis with hearing loss Stover et al. [2002]
ATP7B 606882 Wilson's disease Weirich et al. [2002a]
ATRX 300032 Myelodysplastic syndrome Steensma et al. [2003]
AXIN1 603381 Hepatocellular carcinoma, hepatoblastoma Taniguchi et al. [2002a]
AXIN2 604025 Colorectal cancer, hepatocellular carcinoma, hepatoblastoma Liu et al. [2000a]
Taniguchi et al. [2002a]
BACE 604252 Alzheimer disease Cruts et al. [2001]
BACH1 605882 Early-onset breast cancer Cantor et al. [2001]
BAX 600040 Tumor progression and genomic instability Bacon et al. [2001]
BCKDE1A 248600 Maple Syrup urine disease Kessler et al. [2002]
BCL10 603517 Endometrial cancer Cohn et al. [2000]
BHD 600799 Birt-Hogg-Dube syndrome Nickerson et al. [2002]
BMPR1A 601299 Juvenile intestinal polyposis Kim et al. [2003a]
BMPR2 600799 Familial primary pulmonary hypertension Deng et al. [2000]
Humbert et al. [2002]
Rindermann et al. [2003]
BRAF 164757 Melanoma Meyer et al. [2003a]
BRCA1 113705 Hereditary breast and ovarian cancer

Wagner et al. [1998, 1999b]
Arnold et al. [1999, 2002]
Gross et al. [1999, 2000]
Kiechle et al. [2000]
Shiri-Sverdlov et al. [2000]
Garcia-Closas et al. [2001]
Moller et al. [2001]
Tomka et al. [2001]
Andrulis et al.[2002]
Arnold et al. [2002]
Kang et al. [2002]
Meindl et al. [2002]
Muhr et al. [2002]
Pfeiffer et al. [2002]
Sevilla et al. [2002]
Deng et al. [2003b]
Ginolhac et al. [2003]
Meyer et al. [2003b]
Rajkumar et al. [2003]

BRCA2 600185 Hereditary breast and ovarian cancer

Wagner et al. [1999a, 1999b]
Gross et al. [2000]
Shiri-Sverdlov et al. [2000]
Garcia-Closas et al. [2001]
Kang et al. [2002]
Meindl et al. [2002]
Muhr et al. [2002]
Real et al. [2002]
Boettger et al. [2003]
Meyer et al.[2003b]
Rajkumar et al. [2003]

BRUNOL3 602538 Heart and thymus developmental defects Lichtner et al., [2002]
C4B 120820 Immunodeficiency Jaatinen et al. [2003]

CACNA1A
(CACNL1A4)

601011 Familial hemiplegic migraine (FHM) and episodic ataxia type-2 (EA-2) Ophoff et al. [1996]
CAPN-3 114240 Calpainopathy De Paula et al. [2002]
CASR 601199 Sporadic isolated hypoparathyroidism Hendy et al. [2003]
CAST 114090 Alzheimer's disease Nakayama et al. [2002]
CCM1 604214 Familial cerebral cavernous malformation Dupre et al. [2003]
CCND1 168461 Nasopharyngeal carcinoma Deng et al. [2002]
CCR5 601373 AIDS Martin et al. [1998]
CD2BP1 604416 PAPA syndrome, familial recurrent arthritis Wise et al. [2002]
CDH1 192090 Hereditary prostate cancer; somatic mutations in ductal and lobular breast cancer, gastric cancer Salahshor et al. [2001]
Jonsson e al. [2002]
Lei et al. [2002]
Fricke et al. [2003]
CEA 109770 Colorectal cancer Zimmer and Thomas [2001]
CFTR (ABCC7) 602421 Cystic fibrosis, idiopathic chronic pancreatitis Liu et al. [1998]
Jones et al. [1999]
Le Marechal et al. [2001a]
Audrézet et al. [2002]
Elahi et al. [2002]
Ferec et al. [2002]
Ravnik-Glavac et al. [2002]
Scotet et al. [ 2002]
Cremonesi et al. [2003b]
Girardet et al. [2003]
CHAC 200150 Chorea-acanthcytosis Dobson-Stone et al. [2002]
CHAT 118490 Late-onset Alzheimer’s disease Harold et al. [2003]
CHEK2 114480 Breast cancer, prostate cancer Dong et al. [2003]
Offit et al. [2003]
Rajkumar et al. [2003]
CHRNA3 118503 Megacystis-microcolon-hypoperistalsis syndrome (MMIHS) Lev-Lehman et al. [2001]
CHRNA4 118504 Attention deficit/hyperactivity disorder Todd et al. [2003]
CHRNB4 118509 Megacystis-microcolon-hypoperistalsis syndrome (MMIHS) Lev-Lehman et al. [2001]
CHX10 142993 Microphthalmia, anophthalmia, coloboma Morrison et al., [2002]
CLCN1 118425 Myotonia Wu et al. [2002]
CLIC5 254770 Myoclonic epilepsy Suzuki et al. [2002]
CLN2 204500 Late-infantile neuronal ceroid lipofuscinosis Lam et al. [2001b]
CNOT7 604913 Colorectal cancer Flanagan et al. [2003]
COL17A1 113811 Epidermolysis bullosa Pfendner et al. [2003]
COL3A1 120180 Ehlers-Danlos syndrome type IV Giunta and Steinmann [2000]
COL4A3 120070 Alport syndrome Van Der Loop et al. [2000]
COL7A1 120120 Epidermolysis bullosa Pfendner et al. [2003]
COPG2 604355 Autism Bonora et al. [2002]
CPA1 114850 Autism Bonora et al. [2002]
CPA5 209850 Autism Bonora et al. [2002]
CRB1 604210 Leber congenital amaurosis, retinitis pigmentosa Hanein et al. [2002]
Khaliq et al. [2003]
CRP 123260 Type 2 diabetes mellitus Wolford et al. [2003]
CRX 602225 Leber congenital amaurosis Hanein et al. [2002]
CTNNB1 116806 Uveal melanoma, hepatocellular carcinoma, hepatoblastoma Edmunds et al. [2002]
Taniguchi et al. [2002a]
CUX2 NA Bipolar disorder Jacobsen et al. [2001a]
CYP2A6 122720 Drug metabolism Pitarque et al. [2001]
CYP2B6 605059 Drug metabolism Zanger et al. [2002]
CX26 121011 Sensorineural deafness Pallares-Ruiz et al. [2001]
DBC2   Breast cancer Hamaguchi et al. [2002]
DBY 400010 Male infertility and evolution Sun et al. [1999]
Shen et al. [2000]
DDC (AADC) 107930 Schizophrenia and bipolar disorder Speight et al. [2000]
DGSC 192430 Schizophrenia Williams et al. [2002b]
DGS1 601755 Schizophrenia Williams et al. [2002b]
DISC1 605210 Schizophrenia Devon et al. [2001a]
DISC2 606271 Schizophrenia Devon et al. [2001a]
DMD 310200 Duchenne Muscular Dystrophy Bennett et al. [2001]
Tuffery-Giraud et al. [2003]
DNMT3B 602900 De novo DNA methylation Okano et al. [1999]
DPM1 603503 Congenital disorder of glycosylation Schollen et al. [2002]
DPYD 274270 5-fluorouracil toxicity Ezzeldin et al. [2002]
Fischer et al. [2003]
Gross et al. [2002, 2003]
DRD2 126450 Attention-deficit hyperactivity disorder (ADHD) Todd & Lobos [2002]
DRD3 126451 Schizophrenia Anney et al. [2002]
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last updated 12/12/2003 | © Stanford Genome Technology Center