Table 1.

Information for each disease, showing terms associated with disease name (Associated terms), terms annotated to the disease gene (Annotated terms), number of terms associated with disease name and also used to annotate the disease gene (Common eVOC terms), number of common terms falling within the highest four ranking terms (Terms ranked in top 4) and total number of candidate disease genes selected

Disease	Disease gene	Number of abstracts	Candidate genes	Associated terms	Annotated terms	Common eVOC terms	Terms ranked in top 4
Gilberts syndromea	UGT1A1	316	216	37	8	6	1
Waardenburg syndromea	PAX3	213	321	57	10	5	1
Frasier syndrome	WT1	36	259	11	16	4	3
Dysbetalipoproteinemia	APOE	331	239	37	38	11	3
Chronic lymphatic leukemia	BCL2	407	129	65	28	20	3
Bloom syndrome	BLM	447	379	51	22	14	3
Beckwith Weidemann	IGF2	505	292	76	22	16	3
Ankylosing spondylitis	HLA-B	3451	350	137	53	38	3
Wilms tumour	WT1	4764	292	152	16	15	3
Muscular dystrophy	DMD	7210	142	166	40	33	3
Thalassemia	HBB	7510	129	143	34	31	3
Retinoblastoma	RB1	8617	334	175	35	34	3
Ovarian cancer	BRCA1	11 227	238	142	25	24	3
Neuroblastoma	MYCN	15 409	367	197	20	20	3
Familial hypercholesterolemia	LDLR	15 506	302	159	34	31	3
Prostate cancer	ERBB2	17 876	257	164	30	29	3
Breast cancer	BRCA1	51 759	238	198	25	24	3

^aKnown disease gene not present in candidate gene set