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:0002967	HP:0002967	Cubitus valgus	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0002967	HP:0002967	Cubitus valgus	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional	101
HP:0002967	HP:0002967	Cubitus valgus	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0002967	HP:0002967	Cubitus valgus	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	276
HP:0002967	HP:0002967	Cubitus valgus	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0002967	HP:0002967	Cubitus valgus	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0002967	HP:0002967	Cubitus valgus	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0002967	HP:0002967	Cubitus valgus	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0002967	HP:0002967	Cubitus valgus	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0002967	HP:0002967	Cubitus valgus	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent	165
HP:0002967	HP:0002967	Cubitus valgus	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0002967	HP:0002967	Cubitus valgus	0	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2	.	6
HP:0002967	HP:0002967	Cubitus valgus	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040283 - Occasional	38
HP:0002967	HP:0002967	Cubitus valgus	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	7
HP:0002967	HP:0002967	Cubitus valgus	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	209
HP:0002967	HP:0002967	Cubitus valgus	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	137
HP:0002967	HP:0002967	Cubitus valgus	0	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3		75
HP:0002967	HP:0002967	Cubitus valgus	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0002967	HP:0002967	Cubitus valgus	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	1
HP:0002967	HP:0002967	Cubitus valgus	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0002967	HP:0002967	Cubitus valgus	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002967	HP:0002967	Cubitus valgus	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0002967	HP:0002967	Cubitus valgus	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	196
HP:0002967	HP:0002967	Cubitus valgus	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0002967	HP:0002967	Cubitus valgus	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0002967	HP:0002967	Cubitus valgus	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0002967	HP:0002967	Cubitus valgus	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0002967	HP:0002967	Cubitus valgus	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0002967	HP:0002967	Cubitus valgus	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	134
HP:0002967	HP:0002967	Cubitus valgus	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0002967	HP:0002967	Cubitus valgus	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	178
HP:0002967	HP:0002967	Cubitus valgus	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0002967	HP:0002967	Cubitus valgus	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0002967	HP:0002967	Cubitus valgus	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0002967	HP:0002967	Cubitus valgus	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome	HP:0040283 - Occasional	22
HP:0002967	HP:0002967	Cubitus valgus	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0002967	HP:0002967	Cubitus valgus	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0002967	HP:0002967	Cubitus valgus	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0002967	HP:0002967	Cubitus valgus	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0002967	HP:0002967	Cubitus valgus	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6
HP:0002967	HP:0002967	Cubitus valgus	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0002967	HP:0002967	Cubitus valgus	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0002967	HP:0002967	Cubitus valgus	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0002967	HP:0002967	Cubitus valgus	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	4
HP:0002967	HP:0002967	Cubitus valgus	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent	58
HP:0002967	HP:0002967	Cubitus valgus	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0002967	HP:0002967	Cubitus valgus	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291
HP:0002967	HP:0002967	Cubitus valgus	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0002967	HP:0002967	Cubitus valgus	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0002967	HP:0002967	Cubitus valgus	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0002967	HP:0002967	Cubitus valgus	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease		3
HP:0002967	HP:0002967	Cubitus valgus	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0002967	HP:0002967	Cubitus valgus	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent	66
HP:0002967	HP:0002967	Cubitus valgus	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.	67
HP:0002967	HP:0002967	Cubitus valgus	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4	.	315
HP:0002967	HP:0002967	Cubitus valgus	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0002967	HP:0002967	Cubitus valgus	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0002967	HP:0002967	Cubitus valgus	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0002967	HP:0002967	Cubitus valgus	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0002967	HP:0002967	Cubitus valgus	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent	546
HP:0002967	HP:0002967	Cubitus valgus	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040283 - Occasional	4