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:0100033	HP:0100033	Tics	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0100033	HP:0100033	Tics	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0100033	HP:0100033	Tics	0	CEP152 CL E G H	22995	29298	OMIM:614852	Microcephaly 9, primary, autosomal recessive		146
HP:0100033	HP:0100033	Tics	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0100033	HP:0100033	Tics	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0100033	HP:0100033	Tics	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	HP:0040283 - Occasional	33
HP:0100033	HP:0100033	Tics	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional	33
HP:0100033	HP:0100033	Tics	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0100033	HP:0100033	Tics	0	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0100033	HP:0100033	Tics	0	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome		1
HP:0100033	HP:0100033	Tics	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0100033	HP:0100033	Tics	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0100033	HP:0100033	Tics	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0100033	HP:0100033	Tics	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0100033	HP:0100033	Tics	0	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5		9
HP:0100033	HP:0100033	Tics	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0100033	HP:0100033	Tics	0	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4		34
HP:0100033	HP:0100033	Tics	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0100033	HP:0100033	Tics	0	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome		58
HP:0100033	HP:0100033	Tics	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100033	HP:0100033	Tics	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0100033	HP:0100033	Tics	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130
HP:0100033	HP:0100033	Tics	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0100033	HP:0100033	Tics	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5
HP:0100033	HP:0100034	Motor tics	1	CEP152 CL E G H	22995	29298	OMIM:614852	Microcephaly 9, primary, autosomal recessive		146
HP:0100033	HP:0100034	Motor tics	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0100033	HP:0100035	Phonic tics	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0100033	HP:0100034	Motor tics	1	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0100033	HP:0100035	Phonic tics	1	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome	.	1
HP:0100033	HP:0100034	Motor tics	1	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome	.	1
HP:0100033	HP:0100034	Motor tics	1	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0100033	HP:0100034	Motor tics	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0100033	HP:0100035	Phonic tics	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0100033	HP:0100034	Motor tics	1	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.	9
HP:0100033	HP:0100034	Motor tics	1	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4	.	34
HP:0100033	HP:0100034	Motor tics	1	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome	.	58
HP:0100033	HP:0100035	Phonic tics	1	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome	.	58
HP:0100033	HP:0100034	Motor tics	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130
HP:0100033	HP:0100035	Phonic tics	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130