Table 3.

Overview of biomarker data per patient, including the number of altered biomarkers and coverage thereof in pathways models, as well as theoretical biomarker clustering information for the investigated phenotypes and corresponding genes

HGNC Name Disorder	Patient Label	Biomarkers with reference data	Altered biomarkers	Amount of Biomarkers not in any pathway (ChEBI IDs; corresponding names)	Total amount of relevant pathways (First pathway biomarker coverage)	Closest related gene(s) through clustering (additional biomarkers)*
UPB1D	J	65	15	1 (27,596; 3-Methyl-histidine)	37 (5)	DPYS/UPB1 (8)
DPYD	A	61	16	–	47 (6)	DPYD (13)
	E	54	12	2 (35,621, 86,498; AABA, Hydroxylysine)	41 (5)	DPYD (9)
	I	60	7	2 (17,261, 70,744; N-Aspartylglucosamine, Gly-pro)	9 (4)	– (4)
	K	45	5	–	10 (3)	DPYD (3)
ASL	F	52	12	2 (86,498, 27,596; Hydroxylysine, 3-Methyl-histidine)	23 (4)	– (7)
	L	50	15	2 (27,596, 17,261; 3-Methyl-histidine, N-Aspartylglucosamine)	31 (4)	– (10)
	M	56	30	2 (17,261, 27,596; N-Aspartylglucosamine, 3-Methyl-histidine)	75 (14)	– (25)
	N	61	36	2 (27,596, 17,261; 3-Methyl-histidine, N-Aspartylglucosamine)	76 (15)	– (28)
	T	58	32	3 (27,596, 17,261, 86,498; 3-Methyl-histidine, N-Aspartylglucosamine, Hydroxylysine)	77 (12)	– (28)
ASS1	D	59	16	1 (49,015; Piperideine carboxylic acid)	46 (7)	– (12)
SLC25A15	H	61	48	6 (27,596, 35,621, 86,498, 17,261, 70,744, 50,599; 3-Methyl-histidine, AABA, Hydroxylysine, N-Aspartylglucosamine, Gly-pro, 1-Methyl-histidine)	77 (16)	– (40)
OTC	G	67	19	2 (35,621, 27,596; AABA, 3-Methyl-histidine)	26 (8)	– (10)
	O	55	42	5 (50,599, 86,498, 27,596, 35,621, 17,261; 1-Methyl-histidine, Hydroxylysine, 3-Methyl-histidine, AABA, N-Aspartylglucosamine)	77 (15)	– (37)
	R	62	43	4 (27,596, 17,261, 86,498, 35,621; 3-Methyl-histidine, N-Aspartylglucosamine, Hydroxylysine, AABA)	78 (16)	– (35)
	S	62	36	4 (27,596, 86,498, 17,261, 35,621; 3-Methyl-histidine, Hydroxylysine, N-Aspartylglucosamine, AABA)	74 (15)	– (29)

*: - indicates that no closely related gene could be found through clustering