Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040282 - Frequent	826
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy		182
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040280 - Obligate	86
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040280 - Obligate	57
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040282 - Frequent	194
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040280 - Obligate	54
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040282 - Frequent	62
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	ELOVL4 CL E G H	6785	14415	OMIM:600110	STARGARDT DISEASE 3; STGD3		62
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy		4
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4		4
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy		120
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5		120
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040282 - Frequent	110
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy		159
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3		159
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040282 - Frequent	159
HP:0030500	HP:0030500	Yellow/white lesions of the macula	0	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040281 - Very frequent	95
HP:0030500	HP:0031420	Small yellow foveal lesion with surrounding gray zone	1	CL E G H
HP:0030500	HP:0030497	Macular cotton wool spot	1	CL E G H
HP:0030500	HP:0025110	Placoid macular lesion	1	CL E G H
HP:0030500	HP:0032028	Macular dots	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0030500	HP:0030501	Macular crystals	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0030500	HP:0030499	Macular drusen	1	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0030500	HP:0007677	Vitelliform-like macular lesions	1	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent	182
HP:0030500	HP:0030499	Macular drusen	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040280 - Obligate	86
HP:0030500	HP:0030499	Macular drusen	1	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0030500	HP:0030499	Macular drusen	1	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0030500	HP:0030499	Macular drusen	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040280 - Obligate	57
HP:0030500	HP:0030499	Macular drusen	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040280 - Obligate	54
HP:0030500	HP:0011507	Macular flecks	1	ELOVL4 CL E G H	6785	14415	OMIM:600110	STARGARDT DISEASE 3; STGD3		62
HP:0030500	HP:0030499	Macular drusen	1	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0030500	HP:0007677	Vitelliform-like macular lesions	1	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent	4
HP:0030500	HP:0007677	Vitelliform-like macular lesions	1	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4	.	4
HP:0030500	HP:0007677	Vitelliform-like macular lesions	1	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent	120
HP:0030500	HP:0007677	Vitelliform-like macular lesions	1	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5	.	120
HP:0030500	HP:0007677	Vitelliform-like macular lesions	1	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent	159
HP:0030500	HP:0007677	Vitelliform-like macular lesions	1	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	.	159