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:0003763	HP:0003763	Bruxism	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0003763	HP:0003763	Bruxism	0	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome	HP:0040282 - Frequent	176
HP:0003763	HP:0003763	Bruxism	0	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37	.	176
HP:0003763	HP:0003763	Bruxism	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0003763	HP:0003763	Bruxism	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0003763	HP:0003763	Bruxism	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent	405
HP:0003763	HP:0003763	Bruxism	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0003763	HP:0003763	Bruxism	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0003763	HP:0003763	Bruxism	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0003763	HP:0003763	Bruxism	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0003763	HP:0003763	Bruxism	0	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills	.	5
HP:0003763	HP:0003763	Bruxism	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003763	HP:0003763	Bruxism	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0003763	HP:0003763	Bruxism	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent	8
HP:0003763	HP:0003763	Bruxism	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent	8
HP:0003763	HP:0003763	Bruxism	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.	12
HP:0003763	HP:0003763	Bruxism	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0003763	HP:0003763	Bruxism	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0003763	HP:0003763	Bruxism	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0003763	HP:0003763	Bruxism	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0003763	HP:0003763	Bruxism	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.	950
HP:0003763	HP:0003763	Bruxism	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0003763	HP:0003763	Bruxism	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0003763	HP:0003763	Bruxism	0	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0003763	HP:0003763	Bruxism	0	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	.	20
HP:0003763	HP:0003763	Bruxism	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0003763	HP:0003763	Bruxism	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040281 - Very frequent	53
HP:0003763	HP:0003763	Bruxism	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0003763	HP:0003763	Bruxism	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0003763	HP:0003763	Bruxism	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13		158
HP:0003763	HP:0003763	Bruxism	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0003763	HP:0003763	Bruxism	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0003763	HP:0003763	Bruxism	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0003763	HP:0003763	Bruxism	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362