Table 1

The full results of POCUS analysis for 29 OMIM diseases, over locus sizes of 100, 500 and 1,000 IDs at a threshold of 0.8
Disease (representative OMIM number)
 Number of genes*
 Genes sharing†
 Correctly identified‡
Non-disease genes§
Total number of genes
Enrichment¥









100
 500
 1,000
100
 500
 1,000
100
 500
 1,000
100
 500
 1,000
Parkinson's disease (168600)
 3
 0
 0
 0
 0
0
 0
 1
62
 264
 571
1
 1
 0
Lupus erythematosus, systematic (152700)
 3
 0
 0
 0
 0
1
 0
 0
43
 262
 547
0
 1
 1
Glaucoma, primary open angle, juvenile-onset (137750)
 3
 2
 0
 0
 0
0
 0
 0
59
 279
 527
1
 1
 1
Bardet Biedl (209900)
 4
 0
 0
 0
 0
3
 0
 0
75
 390
 776
0
 1
 1
Meningioma, familial (607174)
 4
 2
 1
 0
 0
6
 17
 10
69
 363
 722
2.46
 0
 0
Acute myelogenous leukemia, familial (601626)
 4
 4
 0
 0
 0
0
 0
 0
84
 385
 771
1
 1
 1
Basal cell carcinoma (605462)
 4
 3
 2
 0
 0
0
 0
 0
83
 418
 810
20.8
 1
 1
Adrenoleukodystrophy, autosomal neonatal form (202370)
 4
 4
 2
 0
 0
0
 3
 3
76
 369
 733
19
 0
 0
Epidermolysis bullosa letalis (226700)
 4
 4
 3
 2
 2
2
 1
 4
73
 380
 728
11
 63.3
 60.67
Familial adenomatous polyposis (175100)
 4
 4
 3
 2
 0
8
 12
 4
64
 371
 727
4.36
 13.3
 0
Ovarian carcinoma (167000)
 4
 4
 0
 0
 0
0
 0
 0
70
 360
 733
1
 1
 1
Hypertension (145500)
 5
 2
 0
 0
 0
3
 0
 0
95
 472
 920
0
 1
 1
Alzheimer's disease (104300)
 5
 4
 3
 0
 0
0
 0
 0
135
 460
 875
27
 1
 1
Charcot-Marie-Tooth disease, types 1A-1F (118200)
 5
 4
 3
 0
 0
0
 0
 0
98
 449
 937
19.6
 1
 1
Gastric cancer (137215)
 5
 4
 0
 0
 0
0
 0
 0
87
 483
 932
1
 1
 1
Cystic fibrosis (219700)
 5
 5
 1
 0
 0
2
 0
 0
99
 458
 900
6.6
 1
 1
Inflammatory bowel disease (266600)
 5
 5
 2
 0
 2
3
 0
 3
99
 506
 1,013
7.92
 1
 81.04
Long-segment Hirschsprung disease (142623)
 5
 5
 0
 0
 0
0
 0
 0
102
 468
 972
1
 1
 1
Leber congenital amaurosis (204000)
 6
 5
 5
 0
 0
4
 0
 0
125
 508
 1,120
11.6
 1
 1
Maturity onset diabetes of the young (606391)
 6
 5
 2
 0
 0
0
 0
 0
111
 551
 1,078
18.5
 1
 1
Prostate cancer (176807)
 6
 5
 0
 0
 0
2
 0
 0
128
 550
 1,157
0
 1
 1
Colorectal cancer, hereditary nonpolyposis (114500)
 6
 6
 5
 6
 6
4
 14
 17
115
 560
 1,095
10.6
 28
 47.61
Epiphyseal dysplasia, multiple types 1-5 (132400)
 7
 6
 6
 3
 0
4
 0
 0
135
 596
 1,232
11.6
 85.1
 1
Muscular dystrophy, limb-girdle, autosomal recessive (601173)
 7
 5
 2
 0
 0
1
 0
 0
124
 634
 1,282
11.8
 1
 1
Diabetes mellitus, non-insulin dependent (125853)
 8
 6
 2
 0
 0
0
 0
 0
155
 719
 1,420
19.4
 1
 1
Breast cancer (114480)
 9
 7
 3
 0
 0
2
 0
 0
170
 819
 1,592
11.3
 1
 1
Retinitis pigmentosa (268000)
 10
 8
 6
 0
 0
3
 7
 6
197
 977
 1,897
13.1
 0
 0
Cardiomyopathy, familial hypertrophic (192600)
 11
 11
 9
 7
 4
7
 7
 15
194
 1,011
 2,029
9.92
 46
 38.83
Thyroid carcinoma, papillary (188550)
 11
 11
 0
 0
 0
1
 0
 0
217
 1,059
 2,142
0
 1
 1

* The total number of genes for a disease. †The number of disease genes that share IDs. ‡The number of disease genes above the threshold at the three locus sizes. §The number of non-disease genes above the threshold at the three locus sizes. The total number of genes present at the loci considered. ¥The enrichment of disease genes in genes above the threshold compared with the initial loci, zeros denote diseases where only non-disease genes were above the theshold.

Turner et al. Genome Biology 2003 4:R75   doi:10.1186/gb-2003-4-11-r75