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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

From: POCUS: mining genomic sequence annotation to predict disease genes

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
  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.