Table 4 Disease-related loci currently mapped to chromosome 22

DGCR

91

18 (20%)

188400

DiGeorge syndrome; velocardiofacial syndrome

DIA1

80

5 (6%)

250800

Methemoglobinemia, type I; methemoglobinemia, type II

CYP2D

75

7 (9%)

124030

Debrisoquine sensitivity; {possible susceptibility to Parkinsonism}

BCR

71

18 (25%)

151410

Chronic myeloid leukemia; acute lymphocytic leukemia

OGS2

60

0 (0%)

145410

Opitz G syndrome, type II

NF2

56

22 (39%)

607379

Neurofibromatosis, type 2; NF2-related somatic meningioma; schwannomatosis

TCN2

53

3 (6%)

275350

Transcobalamin II deficiency

CTLO

51

9 (18%)

218040

Possibly Costello syndrome

ARSA

51

5 (10%)

607574

Metachromatic leukodystrophy

COMT

48

13 (27%)

116790

{Possible susceptibility to schizophrenia}

CECR

48

1 (2%)

115470

Cat eye syndrome

PDGFB

39

2 (5%)

190040

SIS-related meningioma; dermatofibrosarcoma protuberans; giant-cell fibroblastoma

EWSR1

38

1 (3%)

133450

Ewing sarcoma; neuroepithelioma; extraskeletal myxoid chondrosarcoma

CHEK2

24

20 (83%)

604373

Li-Fraumeni syndrome; somatic osteosarcoma; {possible susceptibility to breast cancer}; familial prostate cancer; {possible susceptibility to breast and colorectal cancer}

SOX10

24

10 (42%)

602229

Waardenburg-Shah syndrome; Yemenite deaf-blind hypopigmentation syndrome; neurologic variant Waardenburg-Shah syndrome

NAGA

23

1 (4%)

104170

Schindler disease; Kanzaki disease; mild NAGA deficiency

ACF

21

1 (5%)

125520

Cayler cardiofacial syndrome

MYH9

20

12 (60%)

160775

May-Hegglin anomaly; Fechtner syndrome; Sebastian syndrome; autosomal dominant deafness 17; Epstein syndrome

EP300

16

8 (50%)

602700

Colorectal cancer

TIMP3

16

6 (38%)

188826

Sorsby fundus dystrophy

SMARCB1

16

3 (19%)

601607

Rhabdoid tumors; rhabdoid familial predisposition syndrome

CTHM

16

2 (13%)

217095

? Conotruncal cardiac anomalies

SCZD4

15

2 (13%)

600850

{Possible susceptibility to schizophrenia}

ADSL

15

2 (13%)

608222

Adenylosuccinase deficiency

NEFH

15

0 (0%)

162230

{Possible susceptibility to amyotrophic lateral sclerosis}

SLC5A1

15

0 (0%)

182380

Glucose/galactose malabsorption

CRYBB2

12

2 (17%)

123620

Cataract, cerulean, type 2; cataract, sutural, with punctate and cerulean opacities

GGT1

12

0 (0%)

231950

Glutathioninuria

A4GALT

11

5 (45%)

607922

[Blood group, P system]

HMOX1

11

5 (45%)

141250

Heme oxygenase-1 deficiency

CSF2RB

11

1 (9%)

138981

Pulmonary alveolar proteinosis

ACR

11

0 (0%)

102480

{Possible male infertility due to acrosin deficiency}

MLC1

10

8 (80%)

605908

Megalencephalic leukoencephalopathy with subcortical cysts

SCA10

10

5 (50%)

603516

Spinocerebellar ataxia-10

FBLN1

10

2 (20%)

135820

Synpolydactyly, 3/3'4, associated with metacarpal and metatarsalsynostoses

GP1BB

9

1 (11%)

138720

Bernard-Soulier syndrome, type B; isolated giant platelet disorder

HCF2

9

0 (0%)

142360

Thrombophilia due to heparin cofactor II deficiency

RAC2

8

6 (75%)

602049

Neutrophil immunodeficiency syndrome

PRODH

8

5 (63%)

606810

Hyperprolinemia, type I; {possible susceptibility to schizophrenia}

GGT2

8

0 (0%)

137181

[Familial high serum gamma-glutamyltransferase]

HIRA

8

0 (0%)

600237

{Possible role in CATCH22}

IGLL1

7

1 (14%)

146770

Autosomal agammaglobulinemia recessive

APOL1

6

5 (83%)

603743

{Possible susceptibility to schizophrenia}

XBP1

6

4 (67%)

194355

{Possible susceptibility to schizophrenia}

SCO2

6

4 (67%)

604272

Fatal infantile cardioencephalomyopathy due to cytochrome coxidase deficiency

ECGF1

6

2 (33%)

131222

Myoneurogastrointestinal encephalomyopathy syndrome

PVALB

6

1 (17%)

168890

{Possible role in DiGeorge syndrome}

APOL2

4

4 (100%)

607252

{Possible susceptibility to schizophrenia}

APOL4

4

4 (100%)

607254

{Possible susceptibility to schizophrenia}

MKL1

4

4 (100%)

606078

Acute megakaryoblastic leukemia

LARGE

4

3 (75%)

603590

{Possibly meningioma}

HPS4

4

3 (75%)

606682

Hermansky-Pudlak syndrome

SYN3

4

1 (25%)

602705

{Possible relation to schizophrenia}

KAZA

3

3 (100%)

608207

{Possible susceptibility to Kala-azar}

PSAP2

3

2 (67%)

606230

Chromosome 22q13.3 deletion syndrome

UFD1L

3

1 (33%)

601754

{Possible role in CATCH22}

MN1

3

0 (0%)

156100

Meningioma

ALG12

2

2 (100%)

607144

Congenital disorder of glycosylation, type Ig

FPEVF

2

0 (0%)

604364

Partial epilepsy with variable foci

ARVCF

2

0 (0%)

602269

{Possible role in VCFS}

DFNB40

1

1 (100%)

608264

Autosomal recessive deafness 40

ITS

1

1 (100%)

606960

Insulinoma