Table 1. CBGs in OMIM phenotype-gene associations.

OMIM associations in 21 disease classes that are covered by CBGs up to a certain length (1–3). The coverage by percentage and the AUC in cross-validation are reported.

Disease Classes	CBG Len = 1	CBG Len ≤ 2	CBG Len ≤ 3	Assoc #	Coverage CBG1 ∼ 2	Coverage CBG1 ∼ 3	Pheno #	AUC1000
Bone	21	33	40	40	82.50%	100.00%	31	0.8236
Cancer	93	192	215	219	87.67%	98.17%	67	0.8218
Cardiovascular	25	57	86	88	64.77%	97.73%	58	0.6475
Connectivetissue	11	25	31	33	75.76%	93.94%	24	0.6731
Dermatological	50	61	77	83	73.49%	92.77%	66	0.7565
Developmental	15	24	33	36	66.67%	91.67%	26	0.6442
Ear, Nose, Throat	6	8	19	23	34.78%	82.61%	20	0.5771
Endocrine	33	49	72	79	62.03%	91.14%	47	0.6276
Gastrointestinal	10	16	18	23	69.57%	78.26%	16	0.6692
Hematological	31	48	60	66	72.73%	90.91%	55	0.6388
Immunological	24	52	68	72	72.22%	94.44%	41	0.4695
Metabolic	35	46	78	123	37.40%	63.41%	114	0.2948
Muscular	43	56	64	68	82.35%	94.12%	54	0.7451
Neurological	61	104	162	186	55.91%	87.10%	150	0.5216
Nutritional	8	13	17	17	76.47%	100.00%	3	0.5381
Ophthamological	25	42	51	71	59.15%	71.83%	68	0.6356
Psychiatric	0	8	18	25	32.00%	72.00%	10	0.3610
Renal	16	25	33	38	65.79%	86.84%	33	0.5606
Respiratory	10	18	25	28	64.29%	89.29%	8	0.3523
Skeletal	28	45	53	59	76.27%	89.83%	54	0.8236
Multiple	48	83	117	124	66.94%	94.35%	108	0.6256