Enzyme deficiency or disease name a)

MIM b)

Yeast gene or ORF c)

a. Cloning without reference to map

Acetoacetyl CoA thiolase

203750

ERG10

e-114

Metabolic acidosis

N-acetylglucosamine phosphatidyl-inositol biosynthetic protein

311770

SPT14

e-135

Hemolytic blood disorder (venous thrombosis)

Adenine phosphoribosyltransferase

102600

APT1

APT2

e-39

Urolithiasis

Adenosine deaminase

102700

AAH1

e-23

Immunodeficiency

Adenosine triphosphatase (PXAAA1)

601498

PEX6

e-93

Peroxisomal biogenesis disorder; neuropathy

Adenylate kinase

103000

URA6

ADK1

e-38

Hemolytic anemia

S-Adenosylmethionine synthetase

250850

SAM1

SAM2

e-187

Adenylosuccinate lyase

103050

ADE13

e-202

Purine nucleotide biosynthesis defect; autism features

Aldehyde dehydrogenase

100650

ALD2

 YER073w *

e-168

Delayed oxidation of acetaldehyde; acute alcohol intoxication

d-Aminolevulinate dehydratase

125270

HEM2

e-123

Hepatic porphyria

Ankyrine defect(spherocytose)

182900

YIL112w*

e-14

Spherocytic anemia

Arginosuccinate lyase

207900

ARG4

e-178

Neonatal infantile chronic hyperammonemia

Arginosuccinate synthetase

207800

ARG1

e-80

Argininemia; severe psychomotor retardation

(NKCC2 cotransporter)

600839

YBR235w*

e-74

Hypokalaemic alkalosis with hypercalciura

Carbamoylphosphate synthase

237300

URA2

CPA2

<e-300

Hyperammonemia

Carboxypeptidase C

256540

YBR139w*

PRC1

e-51

Galactosialidosis

Carnitine palmitoyltransferase

600650

YAT1

e-79

Lipid metabolism defect; cardiomyopathy

Catalase

115500

CTA1

e-166

Acatalasia

Coproporphyrinogen oxidase

121300

HEM12

e-120

Coproporphyria; psychiatric symptoms

Cyclin D1 (CCND1)

168461

CLB6

CYS4

e-143

Homocystinuria

Dihydrolipoyl dehydrogenase

246900

LPD1

e-176

Lactic acidosis; "maple syrup" urine disease

Ferrochelatase

177000

HEM15

e-128

Protoporphyria, erythropoietic

Fumarate hydratase

136850

FUM1

e-175

Fumaric aciduria; encephalopathy

Glucose-6-phosphate dehydrogenase

305900

ZWF1

e-162

Hemolytic anemia

1,4-a-glucan branching enzyme

232500

GLC3

e-289

Glycogen storage disease; familial cirrhosis

4-a-glucanotransferase

232400

YPR184w

<e-200

Glycogen storage disease; hepatomegaly

a-1,4 glucosidase

232300

ROT2

e-83

Lysosomal storage disease; cardiomyopathy; skeletal muscular hypotonia

138079

HXK1

HXK2

e-94

Hyperglycemia; diabetes

g-Glutamyltranspeptidase

137181

CIS2

e-63

Glutathionuria

Glutathione peroxidase

138320

HYR1

YKL026c *

e-32

Hemolytic anemia

Glycine decarboxylase

238300

GSD2

<e-300

Non ketotic hyperglycinemia; lethargy; severe mental retardation

Glycogen phosphorylase

232600

GPH1

e-266

Glycogen storage disease; skeletal muscle weakness

Guanine nucleotide binding protein (GNAS1)

139320

GPA1

GPA2

e-59

Defect in adenylcyclase regulation; osteodystrophy

Gulonolo-g-lactone oxidase (pseudogene)

240400

ALO1

e-67

Ascorbic acid biosynthesis defect

Holocarboxylase synthetase

253270

BPL1

e-35

Biotin-responsive carboxylase deficiency; ataxia

a-Ketoglutarate dehydrogenase (E1)

203740

KGD1

e-144

Lactic acidosis; neurodisorders

LIM kinase

601329

SKM1

e-24

Williams syndrome; brain development

Lipoamide acyltransferase (E2)

248610

KGD2

LAT1

e-29

Lactic acidosis; "maple syrup" urine disease

Methylene tetrahydrofolate reductase

236250

MET12

e-51

Homocystinuria; psychotic symptoms

Mevalonate kinase

251170

ERG12

e-70

Mevalonicaciduria; variety of symptoms

Monoamine oxidase

309850

FMS1

e-14

Mental retardation and keratocunjunctivis

Nucleoside diphosphate kinase

156490

YNK1

e-66

Tumor metastatic process

Nucleotide pyrophosphatase

173335

YCR026c *

YEL016c *

e-21

Insulin resistance

Ornithine-d -aminotransferase

258870

CAR2

e-145

Hyperornithinemia; atrophy of choroid and retina

Ornithine transcarbamylase

311250

ARG3

e-84

Hyperammonemia in males

Peroxisome receptor (PTS1)

600414

PEX5

e-56

Peroxisomal biogenesis disorder; neuropathy

Phosphatidylinositol glycan classA

311770

SPT14

e-135

Hemolytic blood disorder (venous thrombosis)

Phosphofructokinase (PFK)

232800

PFK1

e-199

Glycogen storage disease; muscle cramps

Phosphoglycerate mutase

261670

GPM1

e-87

Myopathy

Phospholipid-cholesterol acyltransferase

136120

YNR008w *

e-12

Cholesterol esterification defects; cornea lipid deposits

Porphobilinogen deaminase

176000

HEM3

e-85

Acute intermittent porphyria

Propionyl-CoA-carboxylase

232050

PYC2

e-134

Hyperglycinemia; intolerance to proteins

Protoporphyrinogen oxidase

600923

HEM14

e-12

Variegate porphyria; light sensitive dermatis

Purine phosphorylase

164050

YLR209c *

e-98

Immunodeficiency; neurodisorders

Pyruvate carboxylase

266150

PYC1

<e-300

Lactic acidosis; death

Pyruvate dehydrogenase

312170

PDA1

e-131

Lactic acidosis; ataxia

Pyruvate kinase

266200

CDC19

e-175

Non spherocytic anemia

Retinaldehyde binding protein

YKL091c*

e-10

Retinitis pigmentosa

Rhizomelic chondrodysplasia punctata

601757

PEX7

e-130

Peroxisomal biogenesis disorder

SA gene

145505

ACS1

e-39

Hypertension-associated gene

Serine pyruvate aminotransferase

259900

YFL030w *

e-14

Hyperoxaluria; urolithiase; nephrocalcinosis

SLC4 (anion exchanger)

109270

YNL275w*

e-35

Hereditary spherocytosis

Sterol-26-hydroxylase

213700

ERG11

e-13

Cerebral cholesterinosis

Succinate dehydrogenase g)

600857

SDH1

<e-300

Flavoprotein subunit defect; Leigh syndrome

Succinic semialdehyde dehydrogenase

271980

YBR006w *

Mental retardation and ataxia

Sucrose isomaltase

222900

ROT2

e-55

Sucrose intolerance

Sulfonylurea receptor

600509

YCF1

YLL015w*

MDL2

MDL1

e-78

ABC transporters; immunodeficiency

a-Tocopherol transferase

600415

SEC14

YKL091c*

e-13

Vitamin E deficiency; ataxia

Triosephosphate isomerase

190450

TPI1

e-93

Chronic hemolytic anemia and neuromuscular disorders

Tyrosine transaminase

276600

YJL060w*

e-20

Tyrosinemia

Uroporphyrinogen decarboxylase

176100

HEM12

e-51

Porphyria, cutanea tarda

Uroporphyrinogen synthase

263700

HEM4

e-10

Porphyria, congenital erythropoietic

b. "NER" associated genes h)h

a-ThalassemiaATRX; 1995)

300032

RAD54

e-61

Mental/psychomotor retardation

X.pigmentosum (XP-D, 1990)

126340

RAD3 (1985)

e-292

DNA helicase; TFIIH complex;subunit; photosensitivity; cancer

X.pigmentosum (XP-B, 1990)

133510

SSL2

(1992)

e-294

DNA helicase; TFIIH complex subunit; photosensitivity; cancer

X.pigmentosum, (XP-G, 1990)

133530

RAD2

(1986)

e-83

Structure specific endonuclease; photosensitivity; cancer

X.pigmentosum, (XP-A, (1992)

278700

RAD14

(1993)

e-17

Zinc finger damaged DNA binding protein; photosensitivity; cancer

X.pigmentosum, (XP-C, 1992)

278720

RAD4

(1988)

e-27

125 kDa ssDNA binding protein; photosensitivity; cancer

Cockayne syndrome, (CS-B ,1992)

133540

RAD26

(1994)

e-215

DNA helicase; transcription-coupled repair;progressive neurological dysfunction;photosensitivity

Cockayne syndrome, (CS-A, 1995)

216400

RAD28

(1996)

e-18

c. Positional cloning

Achondroplasia (FGFR3)

100800

IPL1 i)

e-16

Membrane Ser/Thr protein kinase

Adrenoleukodystrophy (ADL)

300100

PXA1

(PAT1)

e-92

ABC transporter; neurodegenerative disease

Amyotrophic lateral sclerosis (SOD1)

105400

SOD1

e-58

Superoxide dismutase

Ataxia telangiectasia (ATM)

208900

TEL1

ESR1

e-57

Phosphatidylinositol kinase-related protein

Barth syndrome (G4.5.)

302060

YPR140w*

e-16

Unknown function; cardioskeletal myopathy

Bloom syndrome (BLM)

210900

SGS1

YABCj)

e-143

RecQ DNA helicase-related protein; growth defect; predisposition to all types of cancer

Chediak-Higashi syndrome (CHS)

214500

BPH1

e-83

Unknown function; "Beige" protein; decreased pigmentation; immunodeficiency

Choroideremia (CHM)

303100

GDI1 k)

e-42

Component A of RAB geranylgeranyltransferase

Cystic fibrosis (CFTR)

219700

YCF1

e-167

ABC transporter; impaired clearance in a variety of organs

Deafness, DFN-1 (DDP)

304700

YJR135w-a* l)

SUL1

e-44

Sulfate transporter; undersulfation of proteoglycans

Fanconi syndrome (CLCN5)

300009

GEF1

e-118

Kidney chloride channel; nephrolithiasis

Fragile histidine triad protein (FHIT)

601153

HNT2

aph1m)

e-43

Dideadenosine tetraphosphate hydrolase; cancer

Friedreich ataxia (FRD)

229300

YFH1*n)

e-16

Unknown function; neurodegenerative disease

Glycerol kinase (GK)

307030

GUT1

e-124

Hyperglycerolemia; poor growth; mental retardation

HNPCC (MSH2)

120436

MSH2

e-254

Mismatch-repair ; hereditary nonpolyposis colon cancer

HNPCC (MLH1)

120436

MLH1

e-190

Mismatch repair ; hereditary nonpolyposis colon cancer

Lissencephaly (LIS1)

247200

MET30

e-44

Subunit of platelet-activating factor acetylhydrolase

Lowe syndrome (OCRL)

309000

SJH1

PIE3

e-47

Inositol polyphosphate 5 phosphatase-related protein; cataracts and glaucoma

Menkes disease (MNK)

309400

CCC2

e-186

Copper-transporting ATPase; neurodegenerative disease and death

CCH1

Calcium channel; familial hemiplegic migraine and episodic ataxia

Monocytic leukemia (MOZ)

601408

TAS1

SAS3

e-72

Acetyltransferase; erythrophagocytosis

Multiple endocrine neoplasia (RET)

171400

PHO85 o

e-14

Related to transmembrane receptors with a cytoplasmic tyrosine kinase domain

Myotonic dystrophy (DM)

160900

YNL161w *p)

e-79

Ser/thr protein kinase; neurodegenerative disease

Myotubular myopathy (MTM1)

310400

YJR110w *

e-78

Probable tyrosine phosphatase; muscle specific disease

NBCC syndrome (PTC)

601309

NCR1 *

e-26

Homologue of Drosophila patched; nevoid basal cell carcinoma syndrome

Neurofibromatosis (NF1)

162200

IRA2

e-42

GTPase-activating protein

Niemann-Pick disease (NPC1)

257220

YPL006w*

e-135

Fatal neurovisceral disorder

Pallister-Hall syndrome (GLI3)

165240

ZAP1*

e-17

Defect in development of multiple organ systems

Retinitis pigmentosa (RPGR)

312610

SRM1q)

e-10

RCC1-related protein; progressive retinal degeneration

Thomsen disease (CLCN1)

160800

GEF1

e-29

Muscle chloride channel; myotonic disorders

Werner syndrome (WRN)

277700

SGS1

e-64

DNA helicase Q-related protein; premature aging and strong predisposition to cancer

Wilms tumor (WT1)

194070

FZF1

e-20

Zinc finger protein; nephroblastoma

Wilson disease (WND)

277900

CCC2

e-152

Copper transporting ATPase; toxic accumulation of copper in liver and brain

Wiskott-Aldrich syndrome (WASP)

301000

LAS17

e-24

Effector for CDC42H GTPase; immunodeficiency