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:0005957	HP:0005957	Breathing dysregulation	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	208
HP:0005957	HP:0005957	Breathing dysregulation	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0005957	HP:0005957	Breathing dysregulation	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	15
HP:0005957	HP:0005957	Breathing dysregulation	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5		342
HP:0005957	HP:0005957	Breathing dysregulation	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	5
HP:0005957	HP:0005957	Breathing dysregulation	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0005957	HP:0005957	Breathing dysregulation	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	87
HP:0005957	HP:0005957	Breathing dysregulation	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	37
HP:0005957	HP:0005957	Breathing dysregulation	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0005957	HP:0005957	Breathing dysregulation	0	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040282 - Frequent	5
HP:0005957	HP:0005957	Breathing dysregulation	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	452
HP:0005957	HP:0005957	Breathing dysregulation	0	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9	.	21
HP:0005957	HP:0005957	Breathing dysregulation	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	90
HP:0005957	HP:0005957	Breathing dysregulation	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	86
HP:0005957	HP:0005957	Breathing dysregulation	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	572
HP:0005957	HP:0005957	Breathing dysregulation	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7		167
HP:0005957	HP:0005957	Breathing dysregulation	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	20
HP:0005957	HP:0005957	Breathing dysregulation	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	6
HP:0005957	HP:0005957	Breathing dysregulation	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0005957	HP:0005957	Breathing dysregulation	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.	166
HP:0005957	HP:0002790	Neonatal breathing dysregulation	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0005957	HP:0002790	Neonatal breathing dysregulation	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0005957	HP:0005947	Decreased sensitivity to hypoxemia	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0005957	HP:0002790	Neonatal breathing dysregulation	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0005957	HP:0002790	Neonatal breathing dysregulation	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.	167
HP:0005957	HP:0002790	Neonatal breathing dysregulation	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45