Table 2. Known HPO-gene-MOI relationships used to benchmark Phenogenon.

Rank	Gene	HPO	MOI	NP	M score	HGF score
1	SCN1A	Seizures	Dom	100	Dom	64.43
2	USH2A	Visual impairment	Rec	259	Rec	26.20
3	ABCA4	Macular dystrophy	Rec	76	Rec	16.78
4	CNGB1	Constriction of the peripheral visual field	Rec	41	Rec	9.43
5	CERKL	Nyctalopia	Rec	15	Rec	8.25
6	PROM1	Macular dystrophy	Dom	60	Dom	7.02
7	GUCY2D	Visual loss	Rec	8	Rec	6.82
8	CRB1	Retinal dystrophy	Rec	25	Rec	6.75
9	TERT	Bone marrow hypocellularity	Dom	48	Dom	6.28
10	BBS1	Constriction of the peripheral visual field	Rec	10	Rec	5.61
11	RPGR	Constriction of the peripheral visual field	X-linked	28	Rec	4.77
12	IMPG2	Visual loss	Rec	4	Rec	2.51

MOI = Mode of Inheritance; NP = the number of patients who carry rare variants for the corresponding MOI