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:0100753	HP:0100753	Schizophrenia	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	530
HP:0100753	HP:0100753	Schizophrenia	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0100753	HP:0100753	Schizophrenia	0	APOL2 CL E G H	23780	619	OMIM:181500	SCHIZOPHRENIA	.
HP:0100753	HP:0100753	Schizophrenia	0	APOL4 CL E G H	80832	14867	OMIM:181500	SCHIZOPHRENIA	.
HP:0100753	HP:0100753	Schizophrenia	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0100753	HP:0100753	Schizophrenia	0	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040283 - Occasional
HP:0100753	HP:0100753	Schizophrenia	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0100753	HP:0100753	Schizophrenia	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0100753	HP:0100753	Schizophrenia	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0100753	HP:0100753	Schizophrenia	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040284 - Very rare	5
HP:0100753	HP:0100753	Schizophrenia	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent	636
HP:0100753	HP:0100753	Schizophrenia	0	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040283 - Occasional	9
HP:0100753	HP:0100753	Schizophrenia	0	CHI3L1 CL E G H	1116	1932	OMIM:181500	SCHIZOPHRENIA	.	1
HP:0100753	HP:0100753	Schizophrenia	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional	52
HP:0100753	HP:0100753	Schizophrenia	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent	15
HP:0100753	HP:0100753	Schizophrenia	0	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040283 - Occasional	60
HP:0100753	HP:0100753	Schizophrenia	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0100753	HP:0100753	Schizophrenia	0	COMT CL E G H	1312	2228	OMIM:181500	SCHIZOPHRENIA	.	6
HP:0100753	HP:0100753	Schizophrenia	0	DAOA CL E G H	267012	21191	OMIM:181500	SCHIZOPHRENIA	.
HP:0100753	HP:0100753	Schizophrenia	0	DISC2 CL E G H	27184	2889	OMIM:181500	SCHIZOPHRENIA	.
HP:0100753	HP:0100753	Schizophrenia	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare	2
HP:0100753	HP:0100753	Schizophrenia	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0100753	HP:0100753	Schizophrenia	0	DRD3 CL E G H	1814	3024	OMIM:181500	SCHIZOPHRENIA	.	21
HP:0100753	HP:0100753	Schizophrenia	0	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040283 - Occasional	63
HP:0100753	HP:0100753	Schizophrenia	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare	2
HP:0100753	HP:0100753	Schizophrenia	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent	33
HP:0100753	HP:0100753	Schizophrenia	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0100753	HP:0100753	Schizophrenia	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0100753	HP:0100753	Schizophrenia	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare
HP:0100753	HP:0100753	Schizophrenia	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare	8
HP:0100753	HP:0100753	Schizophrenia	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	39
HP:0100753	HP:0100753	Schizophrenia	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	34
HP:0100753	HP:0100753	Schizophrenia	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0100753	HP:0100753	Schizophrenia	0	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040283 - Occasional
HP:0100753	HP:0100753	Schizophrenia	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0100753	HP:0100753	Schizophrenia	0	HTR2A CL E G H	3356	5293	OMIM:181500	SCHIZOPHRENIA	.	4
HP:0100753	HP:0100753	Schizophrenia	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0100753	HP:0100753	Schizophrenia	0	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040283 - Occasional	3
HP:0100753	HP:0100753	Schizophrenia	0	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040283 - Occasional	65
HP:0100753	HP:0100753	Schizophrenia	0	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040283 - Occasional	10
HP:0100753	HP:0100753	Schizophrenia	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare	221
HP:0100753	HP:0100753	Schizophrenia	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	228
HP:0100753	HP:0100753	Schizophrenia	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040283 - Occasional
HP:0100753	HP:0100753	Schizophrenia	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0100753	HP:0100753	Schizophrenia	0	MTHFR CL E G H	4524	7436	OMIM:181500	SCHIZOPHRENIA	.	183
HP:0100753	HP:0100753	Schizophrenia	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent	516
HP:0100753	HP:0100753	Schizophrenia	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	516
HP:0100753	HP:0100753	Schizophrenia	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040283 - Occasional	117
HP:0100753	HP:0100753	Schizophrenia	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040283 - Occasional	1
HP:0100753	HP:0100753	Schizophrenia	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0100753	HP:0100753	Schizophrenia	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent	352
HP:0100753	HP:0100753	Schizophrenia	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	40
HP:0100753	HP:0100753	Schizophrenia	0	PRODH CL E G H	5625	9453	ORPHA:419	Hyperprolinemia type 1	HP:0040283 - Occasional	13
HP:0100753	HP:0100753	Schizophrenia	0	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I	.	13
HP:0100753	HP:0100753	Schizophrenia	0	PRODH CL E G H	5625	9453	OMIM:600850	Schizophrenia 4	.	13
HP:0100753	HP:0100753	Schizophrenia	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0100753	HP:0100753	Schizophrenia	0	RBM12 CL E G H	10137	9898	OMIM:617629	Schizophrenia 19	.	2
HP:0100753	HP:0100753	Schizophrenia	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0100753	HP:0100753	Schizophrenia	0	RTN4R CL E G H	65078	18601	OMIM:181500	SCHIZOPHRENIA	.	2
HP:0100753	HP:0100753	Schizophrenia	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0100753	HP:0100753	Schizophrenia	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0100753	HP:0100753	Schizophrenia	0	SHANK3 CL E G H	85358	14294	OMIM:613950	Schizophrenia 15	.	53
HP:0100753	HP:0100753	Schizophrenia	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare	65
HP:0100753	HP:0100753	Schizophrenia	0	SYN2 CL E G H	6854	11495	OMIM:181500	SCHIZOPHRENIA	.	3
HP:0100753	HP:0100753	Schizophrenia	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0100753	HP:0100753	Schizophrenia	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0100753	HP:0100753	Schizophrenia	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040284 - Very rare
HP:0100753	HP:0100753	Schizophrenia	0	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040283 - Occasional
HP:0100753	HP:0100753	Schizophrenia	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040283 - Occasional	14
HP:0100753	HP:0100753	Schizophrenia	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0100753	HP:0100753	Schizophrenia	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	33
HP:0100753	HP:0100753	Schizophrenia	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent	173
HP:0100753	HP:0100753	Schizophrenia	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent	78
HP:0100753	HP:0100753	Schizophrenia	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	777
HP:0100753	HP:0100753	Schizophrenia	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare	37
HP:0100753	HP:0100753	Schizophrenia	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	155
HP:0100753	HP:0100753	Schizophrenia	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0100753	HP:0100753	Schizophrenia	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040283 - Occasional	10