genes screened by DHPLC

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Gene	MIM#	Disease	Reference
List of human genes screened entirely or partly by DHPLC (as of December 2003)
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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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	Human genes screened by DHPLC
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