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:0004422	HP:0004422	Biparietal narrowing	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	175
HP:0004422	HP:0004422	Biparietal narrowing	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent	175
HP:0004422	HP:0004422	Biparietal narrowing	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional	102
HP:0004422	HP:0004422	Biparietal narrowing	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	62
HP:0004422	HP:0004422	Biparietal narrowing	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	1
HP:0004422	HP:0004422	Biparietal narrowing	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0004422	HP:0004422	Biparietal narrowing	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	28
HP:0004422	HP:0004422	Biparietal narrowing	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	34
HP:0004422	HP:0004422	Biparietal narrowing	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0004422	HP:0004422	Biparietal narrowing	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	1
HP:0004422	HP:0004422	Biparietal narrowing	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	247
HP:0004422	HP:0004422	Biparietal narrowing	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	247
HP:0004422	HP:0004422	Biparietal narrowing	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent	83
HP:0004422	HP:0004422	Biparietal narrowing	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	5
HP:0004422	HP:0004422	Biparietal narrowing	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	7
HP:0004422	HP:0004422	Biparietal narrowing	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent	7
HP:0004422	HP:0004422	Biparietal narrowing	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	342
HP:0004422	HP:0004422	Biparietal narrowing	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	90
HP:0004422	HP:0004422	Biparietal narrowing	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent	90
HP:0004422	HP:0004422	Biparietal narrowing	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0004422	HP:0004422	Biparietal narrowing	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0004422	HP:0004422	Biparietal narrowing	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	57
HP:0004422	HP:0004422	Biparietal narrowing	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040283 - Occasional	38
HP:0004422	HP:0004422	Biparietal narrowing	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0004422	HP:0004422	Biparietal narrowing	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0004422	HP:0004422	Biparietal narrowing	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent	87
HP:0004422	HP:0004422	Biparietal narrowing	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional	39
HP:0004422	HP:0004422	Biparietal narrowing	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	113
HP:0004422	HP:0004422	Biparietal narrowing	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	31
HP:0004422	HP:0004422	Biparietal narrowing	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	111
HP:0004422	HP:0004422	Biparietal narrowing	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	111
HP:0004422	HP:0004422	Biparietal narrowing	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent	111
HP:0004422	HP:0004422	Biparietal narrowing	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0004422	HP:0004422	Biparietal narrowing	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	24
HP:0004422	HP:0004422	Biparietal narrowing	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	4
HP:0004422	HP:0004422	Biparietal narrowing	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	276
HP:0004422	HP:0004422	Biparietal narrowing	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	167
HP:0004422	HP:0004422	Biparietal narrowing	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0004422	HP:0004422	Biparietal narrowing	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	196
HP:0004422	HP:0004422	Biparietal narrowing	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	88
HP:0004422	HP:0004422	Biparietal narrowing	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0004422	HP:0004422	Biparietal narrowing	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0004422	HP:0004422	Biparietal narrowing	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040283 - Occasional	78
HP:0004422	HP:0004422	Biparietal narrowing	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040282 - Frequent	7
HP:0004422	HP:0004422	Biparietal narrowing	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	127
HP:0004422	HP:0004422	Biparietal narrowing	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent	127
HP:0004422	HP:0004422	Biparietal narrowing	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent	85
HP:0004422	HP:0004422	Biparietal narrowing	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	102
HP:0004422	HP:0004422	Biparietal narrowing	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	201
HP:0004422	HP:0004422	Biparietal narrowing	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	1
HP:0004422	HP:0004422	Biparietal narrowing	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	4
HP:0004422	HP:0004422	Biparietal narrowing	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	11
HP:0004422	HP:0004422	Biparietal narrowing	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	.	948
HP:0004422	HP:0004422	Biparietal narrowing	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	167
HP:0004422	HP:0004422	Biparietal narrowing	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent	167
HP:0004422	HP:0004422	Biparietal narrowing	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0004422	HP:0004422	Biparietal narrowing	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	124
HP:0004422	HP:0004422	Biparietal narrowing	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	45
HP:0004422	HP:0004422	Biparietal narrowing	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	76
HP:0004422	HP:0004422	Biparietal narrowing	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	31
HP:0004422	HP:0004422	Biparietal narrowing	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	39
HP:0004422	HP:0004422	Biparietal narrowing	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	45
HP:0004422	HP:0004422	Biparietal narrowing	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	45
HP:0004422	HP:0004422	Biparietal narrowing	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0004422	HP:0004422	Biparietal narrowing	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	33
HP:0004422	HP:0004422	Biparietal narrowing	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	82
HP:0004422	HP:0004422	Biparietal narrowing	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	82
HP:0004422	HP:0004422	Biparietal narrowing	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent	82
HP:0004422	HP:0004422	Biparietal narrowing	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent	166
HP:0004422	HP:0004422	Biparietal narrowing	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	166
HP:0004422	HP:0004422	Biparietal narrowing	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0004422	HP:0004422	Biparietal narrowing	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	61
HP:0004422	HP:0004422	Biparietal narrowing	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	14
HP:0004422	HP:0004422	Biparietal narrowing	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	61
HP:0004422	HP:0004422	Biparietal narrowing	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0004422	HP:0004422	Biparietal narrowing	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	9
HP:0004422	HP:0004422	Biparietal narrowing	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	49
HP:0004422	HP:0004422	Biparietal narrowing	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	1