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:0009794	HP:0009794	Branchial anomaly	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0009794	HP:0009794	Branchial anomaly	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0009794	HP:0009794	Branchial anomaly	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0009794	HP:0009794	Branchial anomaly	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome		135
HP:0009794	HP:0009794	Branchial anomaly	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1		135
HP:0009794	HP:0009794	Branchial anomaly	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0009794	HP:0009794	Branchial anomaly	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0009794	HP:0009794	Branchial anomaly	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0009794	HP:0009794	Branchial anomaly	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0009794	HP:0009794	Branchial anomaly	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0009794	HP:0009794	Branchial anomaly	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0009794	HP:0009794	Branchial anomaly	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0009794	HP:0009794	Branchial anomaly	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0009794	HP:0009794	Branchial anomaly	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0009794	HP:0009794	Branchial anomaly	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0009794	HP:0009794	Branchial anomaly	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0009794	HP:0009794	Branchial anomaly	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0009794	HP:0009794	Branchial anomaly	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome		50
HP:0009794	HP:0009794	Branchial anomaly	0	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0009794	HP:0009794	Branchial anomaly	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0009794	HP:0009794	Branchial anomaly	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0009794	HP:0009794	Branchial anomaly	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0009794	HP:0009794	Branchial anomaly	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0009794	HP:0009794	Branchial anomaly	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0009794	HP:0100272	Branchial sinus	1	CL E G H
HP:0009794	HP:0009795	Branchial fistula	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0009794	HP:0009795	Branchial fistula	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0009794	HP:0009796	Branchial cyst	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	135
HP:0009794	HP:0009795	Branchial fistula	1	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent	135
HP:0009794	HP:0009795	Branchial fistula	1	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0009794	HP:0009795	Branchial fistula	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0009794	HP:0009796	Branchial cyst	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0009794	HP:0009795	Branchial fistula	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0009794	HP:0009795	Branchial fistula	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0009794	HP:0009795	Branchial fistula	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0009794	HP:0009795	Branchial fistula	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0009794	HP:0009796	Branchial cyst	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0009794	HP:0009796	Branchial cyst	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent	10
HP:0009794	HP:0009795	Branchial fistula	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0009794	HP:0009796	Branchial cyst	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	50
HP:0009794	HP:0009795	Branchial fistula	1	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent	50
HP:0009794	HP:0009796	Branchial cyst	1	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3	.	50
HP:0009794	HP:0009796	Branchial cyst	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0009794	HP:0009795	Branchial fistula	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0009794	HP:0009796	Branchial cyst	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	10
HP:0009794	HP:0009795	Branchial fistula	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140