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:0011073	HP:0011073	Abnormality of dental color	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	530
HP:0011073	HP:0011073	Abnormality of dental color	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0011073	HP:0011073	Abnormality of dental color	0	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F		2
HP:0011073	HP:0011073	Abnormality of dental color	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:0011073	HP:0011073	Abnormality of dental color	0	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome	HP:0040281 - Very frequent	61
HP:0011073	HP:0011073	Abnormality of dental color	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	129
HP:0011073	HP:0011073	Abnormality of dental color	0	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:0011073	HP:0011073	Abnormality of dental color	0	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC		50
HP:0011073	HP:0011073	Abnormality of dental color	0	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040281 - Very frequent	16
HP:0011073	HP:0011073	Abnormality of dental color	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0011073	HP:0011073	Abnormality of dental color	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0011073	HP:0011073	Abnormality of dental color	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0011073	HP:0011073	Abnormality of dental color	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0011073	HP:0011073	Abnormality of dental color	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	124
HP:0011073	HP:0011073	Abnormality of dental color	0	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H		8
HP:0011073	HP:0011073	Abnormality of dental color	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0011073	HP:0011073	Abnormality of dental color	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0011073	HP:0011073	Abnormality of dental color	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0011073	HP:0011073	Abnormality of dental color	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0011073	HP:0011073	Abnormality of dental color	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	516
HP:0011073	HP:0011073	Abnormality of dental color	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0011073	HP:0011073	Abnormality of dental color	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	40
HP:0011073	HP:0011073	Abnormality of dental color	0	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:0011073	HP:0011073	Abnormality of dental color	0	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent	57
HP:0011073	HP:0011073	Abnormality of dental color	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011073	HP:0011073	Abnormality of dental color	0	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent	73
HP:0011073	HP:0011073	Abnormality of dental color	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0011073	HP:0011073	Abnormality of dental color	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0011073	HP:0011073	Abnormality of dental color	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic		41
HP:0011073	HP:0011073	Abnormality of dental color	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	777
HP:0011073	HP:0011073	Abnormality of dental color	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	155
HP:0011073	HP:0025123	White streaks/specks on enamel.	1	CL E G H
HP:0011073	HP:0011075	Green teeth	1	CL E G H
HP:0011073	HP:0006286	Yellow-brown discoloration of the teeth	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:0011073	HP:0006286	Yellow-brown discoloration of the teeth	1	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:0011073	HP:0006286	Yellow-brown discoloration of the teeth	1	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC	.	50
HP:0011073	HP:0006286	Yellow-brown discoloration of the teeth	1	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040281 - Very frequent	16
HP:0011073	HP:0000683	Grayish enamel	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0011073	HP:0030756	Erythrodontia	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	29
HP:0011073	HP:0000683	Grayish enamel	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0011073	HP:0006286	Yellow-brown discoloration of the teeth	1	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H		8
HP:0011073	HP:0006286	Yellow-brown discoloration of the teeth	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0011073	HP:0006286	Yellow-brown discoloration of the teeth	1	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:0011073	HP:0006286	Yellow-brown discoloration of the teeth	1	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent	57
HP:0011073	HP:0006286	Yellow-brown discoloration of the teeth	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011073	HP:0006286	Yellow-brown discoloration of the teeth	1	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent	73
HP:0011073	HP:0030756	Erythrodontia	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040282 - Frequent	31
HP:0011073	HP:0030756	Erythrodontia	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	41
HP:0011073	HP:0030756	Erythrodontia	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41