Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Impairment in personality functioning (HP:0031466)

Parent Node:
Disinhibition (HP:0000734)

..Starting node
..Impulsivity (HP:0100710)

Term ID:

100710

Name:

Impulsivity

Synonym:

Impulsive; Impulsivity

Definition:

Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress.

Comments:

Reference:

HP:0100710

Genes and Diseases:

Child Nodes:

Sister Nodes:

Risk taking (HP:0031472)

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:0100710	HP:0100710	Impulsivity	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100710	HP:0100710	Impulsivity	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0100710	HP:0100710	Impulsivity	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0100710	HP:0100710	Impulsivity	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent	59
HP:0100710	HP:0100710	Impulsivity	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe	.	59
HP:0100710	HP:0100710	Impulsivity	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.	56
HP:0100710	HP:0100710	Impulsivity	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	7
HP:0100710	HP:0100710	Impulsivity	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0100710	HP:0100710	Impulsivity	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0100710	HP:0100710	Impulsivity	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0100710	HP:0100710	Impulsivity	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	239
HP:0100710	HP:0100710	Impulsivity	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0100710	HP:0100710	Impulsivity	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	150
HP:0100710	HP:0100710	Impulsivity	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0100710	HP:0100710	Impulsivity	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome		17
HP:0100710	HP:0100710	Impulsivity	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0100710	HP:0100710	Impulsivity	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0100710	HP:0100710	Impulsivity	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	449
HP:0100710	HP:0100710	Impulsivity	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0100710	HP:0100710	Impulsivity	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	59
HP:0100710	HP:0100710	Impulsivity	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0100710	HP:0100710	Impulsivity	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100710	HP:0100710	Impulsivity	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	200
HP:0100710	HP:0100710	Impulsivity	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100710	HP:0100710	Impulsivity	0	CEP152 CL E G H	22995	29298	OMIM:614852	Microcephaly 9, primary, autosomal recessive	.	146
HP:0100710	HP:0100710	Impulsivity	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.	1
HP:0100710	HP:0100710	Impulsivity	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0100710	HP:0100710	Impulsivity	0	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG		18
HP:0100710	HP:0100710	Impulsivity	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	18
HP:0100710	HP:0100710	Impulsivity	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0100710	HP:0100710	Impulsivity	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0100710	HP:0100710	Impulsivity	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent	291
HP:0100710	HP:0100710	Impulsivity	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent	291
HP:0100710	HP:0100710	Impulsivity	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0100710	HP:0100710	Impulsivity	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100710	HP:0100710	Impulsivity	0	DEPDC5 CL E G H	9681	18423	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040284 - Very rare	172
HP:0100710	HP:0100710	Impulsivity	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	47
HP:0100710	HP:0100710	Impulsivity	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	22
HP:0100710	HP:0100710	Impulsivity	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	3
HP:0100710	HP:0100710	Impulsivity	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0100710	HP:0100710	Impulsivity	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare	6
HP:0100710	HP:0100710	Impulsivity	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	72
HP:0100710	HP:0100710	Impulsivity	0	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.	145
HP:0100710	HP:0100710	Impulsivity	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0100710	HP:0100710	Impulsivity	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	60
HP:0100710	HP:0100710	Impulsivity	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0100710	HP:0100710	Impulsivity	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0100710	HP:0100710	Impulsivity	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent	250
HP:0100710	HP:0100710	Impulsivity	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0100710	HP:0100710	Impulsivity	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0100710	HP:0100710	Impulsivity	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0100710	HP:0100710	Impulsivity	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	17
HP:0100710	HP:0100710	Impulsivity	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	48
HP:0100710	HP:0100710	Impulsivity	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent	3
HP:0100710	HP:0100710	Impulsivity	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100710	HP:0100710	Impulsivity	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0100710	HP:0100710	Impulsivity	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	134
HP:0100710	HP:0100710	Impulsivity	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	4
HP:0100710	HP:0100710	Impulsivity	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100710	HP:0100710	Impulsivity	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	44
HP:0100710	HP:0100710	Impulsivity	0	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43		57
HP:0100710	HP:0100710	Impulsivity	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	139
HP:0100710	HP:0100710	Impulsivity	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	139
HP:0100710	HP:0100710	Impulsivity	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	2
HP:0100710	HP:0100710	Impulsivity	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0100710	HP:0100710	Impulsivity	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.	5
HP:0100710	HP:0100710	Impulsivity	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0100710	HP:0100710	Impulsivity	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.	166
HP:0100710	HP:0100710	Impulsivity	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	173
HP:0100710	HP:0100710	Impulsivity	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0100710	HP:0100710	Impulsivity	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0100710	HP:0100710	Impulsivity	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional	434
HP:0100710	HP:0100710	Impulsivity	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0100710	HP:0100710	Impulsivity	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0100710	HP:0100710	Impulsivity	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	54
HP:0100710	HP:0100710	Impulsivity	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0100710	HP:0100710	Impulsivity	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.	13
HP:0100710	HP:0100710	Impulsivity	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare	39
HP:0100710	HP:0100710	Impulsivity	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0100710	HP:0100710	Impulsivity	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0100710	HP:0100710	Impulsivity	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.	283
HP:0100710	HP:0100710	Impulsivity	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	13
HP:0100710	HP:0100710	Impulsivity	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	65
HP:0100710	HP:0100710	Impulsivity	0	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive	.	112
HP:0100710	HP:0100710	Impulsivity	0	LGI1 CL E G H	9211	6572	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040284 - Very rare	75
HP:0100710	HP:0100710	Impulsivity	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0100710	HP:0100710	Impulsivity	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare	221
HP:0100710	HP:0100710	Impulsivity	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0100710	HP:0100710	Impulsivity	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0100710	HP:0100710	Impulsivity	0	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome	.	22
HP:0100710	HP:0100710	Impulsivity	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent	140
HP:0100710	HP:0100710	Impulsivity	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0100710	HP:0100710	Impulsivity	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0100710	HP:0100710	Impulsivity	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	45
HP:0100710	HP:0100710	Impulsivity	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0100710	HP:0100710	Impulsivity	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional	97
HP:0100710	HP:0100710	Impulsivity	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	8
HP:0100710	HP:0100710	Impulsivity	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0100710	HP:0100710	Impulsivity	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent	55
HP:0100710	HP:0100710	Impulsivity	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare	23
HP:0100710	HP:0100710	Impulsivity	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	14
HP:0100710	HP:0100710	Impulsivity	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	225
HP:0100710	HP:0100710	Impulsivity	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040283 - Occasional	225
HP:0100710	HP:0100710	Impulsivity	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.	11
HP:0100710	HP:0100710	Impulsivity	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0100710	HP:0100710	Impulsivity	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare	55
HP:0100710	HP:0100710	Impulsivity	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional	133
HP:0100710	HP:0100710	Impulsivity	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0100710	HP:0100710	Impulsivity	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare	6
HP:0100710	HP:0100710	Impulsivity	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0100710	HP:0100710	Impulsivity	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0100710	HP:0100710	Impulsivity	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare	138
HP:0100710	HP:0100710	Impulsivity	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	665
HP:0100710	HP:0100710	Impulsivity	0	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4	.	34
HP:0100710	HP:0100710	Impulsivity	0	RELN CL E G H	5649	9957	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040284 - Very rare	334
HP:0100710	HP:0100710	Impulsivity	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	1053
HP:0100710	HP:0100710	Impulsivity	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	126
HP:0100710	HP:0100710	Impulsivity	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	427
HP:0100710	HP:0100710	Impulsivity	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	70
HP:0100710	HP:0100710	Impulsivity	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	357
HP:0100710	HP:0100710	Impulsivity	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	318
HP:0100710	HP:0100710	Impulsivity	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	67
HP:0100710	HP:0100710	Impulsivity	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	32
HP:0100710	HP:0100710	Impulsivity	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	73
HP:0100710	HP:0100710	Impulsivity	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0100710	HP:0100710	Impulsivity	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0100710	HP:0100710	Impulsivity	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100710	HP:0100710	Impulsivity	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0100710	HP:0100710	Impulsivity	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare	65
HP:0100710	HP:0100710	Impulsivity	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0100710	HP:0100710	Impulsivity	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100710	HP:0100710	Impulsivity	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0100710	HP:0100710	Impulsivity	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	99
HP:0100710	HP:0100710	Impulsivity	0	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040283 - Occasional	8
HP:0100710	HP:0100710	Impulsivity	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0100710	HP:0100710	Impulsivity	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	9
HP:0100710	HP:0100710	Impulsivity	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare	9
HP:0100710	HP:0100710	Impulsivity	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	123
HP:0100710	HP:0100710	Impulsivity	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	1
HP:0100710	HP:0100710	Impulsivity	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	32
HP:0100710	HP:0100710	Impulsivity	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0100710	HP:0100710	Impulsivity	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100710	HP:0100710	Impulsivity	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0100710	HP:0100710	Impulsivity	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0100710	HP:0100710	Impulsivity	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	13
HP:0100710	HP:0100710	Impulsivity	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040283 - Occasional	1
HP:0100710	HP:0100710	Impulsivity	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare	21
HP:0100710	HP:0100710	Impulsivity	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0100710	HP:0100710	Impulsivity	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent	111
HP:0100710	HP:0100710	Impulsivity	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare	8
HP:0100710	HP:0100710	Impulsivity	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0100710	HP:0100710	Impulsivity	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37
HP:0100710	HP:0100710	Impulsivity	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.	224
HP:0100710	HP:0100710	Impulsivity	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	149
HP:0100710	HP:0100710	Impulsivity	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100710	HP:0100710	Impulsivity	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	34

Genes (139) :AARS1 ACTL6B ADAT3 AFF2 AMT AP3B2 ARPC4 ARV1 ATP1A2 ATP1A3 ATP6V1A BCORL1 C19ORF12 CACNA1A CACNA1B CACNA2D1 CDH2 CDK19 CDON CELF2 CEP152 CLTC CNKSR2 COQ5 CREBBP CYFIP2 DALRD3 DEPDC5 DHDDS DISP1 DLL1 DNAJC13 DNAJC6 DNM1 DNMT1 DPYSL5 EEF1A2 EIF4G1 EP300 FBXW11 FGF12 FGF13 FGF8 FOXH1 FUZ FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRG2 GAS1 GBA1 GCSH GIGYF2 GLDC GLI2 GNB2 GRIK2 GRIN2A GRIN2D H4C5 HCN1 HEPHL1 HIVEP2 HTRA2 IFNG IL1RAPL1 KANSL1 KCNA2 KCNB1 KNL1 LGI1 LRRK2 MAGEL2 MAOA MAPT NAA20 NECAP1 NODAL NONO NTRK1 NTRK2 NUS1 PANK2 PARK7 PARS2 PCDH19 PHIP PINK1 PLA2G6 PODXL POLA1 PPP3CA PRKN PTCH1 PTCHD1 RELN SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH SIX3 SLC13A5 SLC1A2 SLC1A3 SLC38A3 SNCA SPEN SPTBN1 SRCAP STIL SUGCT SYNGAP1 SYNJ1 SZT2 TDGF1 TGIF1 TMEM240 TRAK1 TSC1 TSC2 UBA5 UBTF UCHL1 USP7 VANGL1 VPS13C VPS16 VPS35 WDR62 WWOX YWHAG ZIC2

Diseases (62) :ORPHA:442835 ORPHA:363528 ORPHA:100973 OMIM:309548 OMIM:605899 OMIM:620141 ORPHA:2131 OMIM:301029 OMIM:614298 OMIM:618929 ORPHA:280195 OMIM:614852 OMIM:617854 OMIM:301008 OMIM:619028 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:101046 ORPHA:411602 ORPHA:2828 OMIM:614116 OMIM:619435 ORPHA:353284 OMIM:618914 ORPHA:3027 ORPHA:33069 OMIM:617113 OMIM:619503 OMIM:619580 ORPHA:98818 OMIM:619950 OMIM:261990 OMIM:616977 ORPHA:805 OMIM:300143 OMIM:610443 OMIM:604321 ORPHA:398069 OMIM:615547 OMIM:300615 ORPHA:240071 OMIM:619717 OMIM:300967 ORPHA:642 ORPHA:216873 ORPHA:101039 OMIM:617991 ORPHA:589905 ORPHA:35069 OMIM:610217 OMIM:301030 OMIM:300830 OMIM:619312 OMIM:619475 ORPHA:2044 ORPHA:35706 OMIM:607454 ORPHA:500180 ORPHA:500055 OMIM:619291 OMIM:604317

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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