Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000734	HP:0000734	Disinhibition	0	ABCA7 CL E G H	10347	1020				ORPHA	1	148	37	605414
HP:0000734	HP:0000734	Disinhibition	0	APP CL E G H	351	1020				ORPHA	1	404	620	104760
HP:0000734	HP:0000734	Disinhibition	0	C9orf72 CL E G H	203228	275864				ORPHA	1	173	28337	614260
HP:0000734	HP:0000734	Disinhibition	0	CHMP2B CL E G H	25978	275864				ORPHA	1	141	24537	609512
HP:0000734	HP:0000734	Disinhibition	0	CHMP2B CL E G H	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	600795	C1833296	OMIM	1	141	24537	609512
HP:0000734	HP:0000734	Disinhibition	0	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	338	3775	309550
HP:0000734	HP:0000734	Disinhibition	0	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	151	3999	134790
HP:0000734	HP:0000734	Disinhibition	0	GRN CL E G H	2896	275864				ORPHA	1	417	4601	138945
HP:0000734	HP:0000734	Disinhibition	0	GRN CL E G H	2896	607485	Frontotemporal dementia, ubiquitin-positive	607485	C1843792	OMIM	1	417	4601	138945
HP:0000734	HP:0000734	Disinhibition	0	MAPT CL E G H	4137	275864				ORPHA	1	514	6893	157140
HP:0000734	HP:0000734	Disinhibition	0	MAPT CL E G H	4137	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	514	6893	157140
HP:0000734	HP:0000734	Disinhibition	0	MAPT CL E G H	4137	172700	Pick's disease	172700	C0236642	OMIM	1	514	6893	157140
HP:0000734	HP:0000734	Disinhibition	0	PSEN1 CL E G H	5663	275864				ORPHA	1	452	9508	104311
HP:0000734	HP:0000734	Disinhibition	0	PSEN1 CL E G H	5663	1020				ORPHA	1	452	9508	104311
HP:0000734	HP:0000734	Disinhibition	0	PSEN1 CL E G H	5663	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	452	9508	104311
HP:0000734	HP:0000734	Disinhibition	0	PSEN1 CL E G H	5663	172700	Pick's disease	172700	C0236642	OMIM	1	452	9508	104311
HP:0000734	HP:0000734	Disinhibition	0	PSEN2 CL E G H	5664	1020				ORPHA	1	237	9509	600759
HP:0000734	HP:0000734	Disinhibition	0	SORL1 CL E G H	6653	1020				ORPHA	1	320	11185	602005
HP:0000734	HP:0000734	Disinhibition	0	SPAST CL E G H	6683	182601	Spastic paraplegia 4, autosomal dominant	182601	C1866855	OMIM	1	1014	11233	604277
HP:0000734	HP:0000734	Disinhibition	0	SQSTM1 CL E G H	8878	275864				ORPHA	1	542	11280	601530
HP:0000734	HP:0000734	Disinhibition	0	SQSTM1 CL E G H	8878	616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	616437	C4225326	OMIM	1	542	11280	601530
HP:0000734	HP:0000734	Disinhibition	0	TARDBP CL E G H	23435	612069	Amyotrophic lateral sclerosis type 10	612069	C2677565	OMIM	1	259	11571	605078
HP:0000734	HP:0000734	Disinhibition	0	TBK1 CL E G H	29110	616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	616439	C4225325	OMIM	1	294	11584	604834
HP:0000734	HP:0000734	Disinhibition	0	TMEM106B CL E G H	54664	275864				ORPHA	1	87	22407	613413
HP:0000734	HP:0000734	Disinhibition	0	TOMM40 CL E G H	10452	1020				ORPHA	1	14	18001	608061
HP:0000734	HP:0000734	Disinhibition	0	TREM2 CL E G H	54209	2770				ORPHA	1	110	17761	605086
HP:0000734	HP:0000734	Disinhibition	0	TREM2 CL E G H	54209	275864				ORPHA	1	110	17761	605086
HP:0000734	HP:0000734	Disinhibition	0	TREM2 CL E G H	54209	1020				ORPHA	1	110	17761	605086
HP:0000734	HP:0000734	Disinhibition	0	TYROBP CL E G H	7305	2770				ORPHA	1	85	12449	604142
HP:0000734	HP:0000734	Disinhibition	0	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0000734	HP:0000734	Disinhibition	0	VCP CL E G H	7415	275864				ORPHA	1	473	12666	601023
HP:0000734	HP:0000734	Disinhibition	0	VPS13A CL E G H	23230	200150	Choreoacanthocytosis	200150	C0393576	OMIM	1	1735	1908	605978
HP:0000734	HP:0031472	Risk taking	1	ABCA7 CL E G H	10347	1020				ORPHA	1	148	37	605414
HP:0000734	HP:0100710	Impulsivity	1	ABCA7 CL E G H	10347	1020				ORPHA	1	148	37	605414
HP:0000734	HP:0100710	Impulsivity	1	APP CL E G H	351	1020				ORPHA	1	404	620	104760
HP:0000734	HP:0031472	Risk taking	1	APP CL E G H	351	1020				ORPHA	1	404	620	104760
HP:0000734	HP:0100710	Impulsivity	1	C9orf72 CL E G H	203228	275864				ORPHA	1	173	28337	614260
HP:0000734	HP:0031472	Risk taking	1	C9orf72 CL E G H	203228	275864				ORPHA	1	173	28337	614260
HP:0000734	HP:0031472	Risk taking	1	CHMP2B CL E G H	25978	275864				ORPHA	1	141	24537	609512
HP:0000734	HP:0100710	Impulsivity	1	CHMP2B CL E G H	25978	275864				ORPHA	1	141	24537	609512
HP:0000734	HP:0031472	Risk taking	1	CHMP2B CL E G H	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	600795	C1833296	OMIM	1	141	24537	609512
HP:0000734	HP:0100710	Impulsivity	1	CHMP2B CL E G H	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	600795	C1833296	OMIM	1	141	24537	609512
HP:0000734	HP:0031472	Risk taking	1	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	338	3775	309550
HP:0000734	HP:0100710	Impulsivity	1	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	338	3775	309550
HP:0000734	HP:0031472	Risk taking	1	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	151	3999	134790
HP:0000734	HP:0100710	Impulsivity	1	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	151	3999	134790
HP:0000734	HP:0031472	Risk taking	1	GRN CL E G H	2896	275864				ORPHA	1	417	4601	138945
HP:0000734	HP:0100710	Impulsivity	1	GRN CL E G H	2896	275864				ORPHA	1	417	4601	138945
HP:0000734	HP:0031472	Risk taking	1	GRN CL E G H	2896	607485	Frontotemporal dementia, ubiquitin-positive	607485	C1843792	OMIM	1	417	4601	138945
HP:0000734	HP:0100710	Impulsivity	1	GRN CL E G H	2896	607485	Frontotemporal dementia, ubiquitin-positive	607485	C1843792	OMIM	1	417	4601	138945
HP:0000734	HP:0031472	Risk taking	1	MAPT CL E G H	4137	275864				ORPHA	1	514	6893	157140
HP:0000734	HP:0100710	Impulsivity	1	MAPT CL E G H	4137	275864				ORPHA	1	514	6893	157140
HP:0000734	HP:0031472	Risk taking	1	MAPT CL E G H	4137	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	514	6893	157140
HP:0000734	HP:0100710	Impulsivity	1	MAPT CL E G H	4137	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	514	6893	157140
HP:0000734	HP:0031472	Risk taking	1	MAPT CL E G H	4137	172700	Pick's disease	172700	C0236642	OMIM	1	514	6893	157140
HP:0000734	HP:0100710	Impulsivity	1	MAPT CL E G H	4137	172700	Pick's disease	172700	C0236642	OMIM	1	514	6893	157140
HP:0000734	HP:0031472	Risk taking	1	PSEN1 CL E G H	5663	1020				ORPHA	1	452	9508	104311
HP:0000734	HP:0100710	Impulsivity	1	PSEN1 CL E G H	5663	275864				ORPHA	1	452	9508	104311
HP:0000734	HP:0100710	Impulsivity	1	PSEN1 CL E G H	5663	1020				ORPHA	1	452	9508	104311
HP:0000734	HP:0031472	Risk taking	1	PSEN1 CL E G H	5663	275864				ORPHA	1	452	9508	104311
HP:0000734	HP:0100710	Impulsivity	1	PSEN1 CL E G H	5663	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	452	9508	104311
HP:0000734	HP:0031472	Risk taking	1	PSEN1 CL E G H	5663	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	452	9508	104311
HP:0000734	HP:0031472	Risk taking	1	PSEN1 CL E G H	5663	172700	Pick's disease	172700	C0236642	OMIM	1	452	9508	104311
HP:0000734	HP:0100710	Impulsivity	1	PSEN1 CL E G H	5663	172700	Pick's disease	172700	C0236642	OMIM	1	452	9508	104311
HP:0000734	HP:0031472	Risk taking	1	PSEN2 CL E G H	5664	1020				ORPHA	1	237	9509	600759
HP:0000734	HP:0100710	Impulsivity	1	PSEN2 CL E G H	5664	1020				ORPHA	1	237	9509	600759
HP:0000734	HP:0031472	Risk taking	1	SORL1 CL E G H	6653	1020				ORPHA	1	320	11185	602005
HP:0000734	HP:0100710	Impulsivity	1	SORL1 CL E G H	6653	1020				ORPHA	1	320	11185	602005
HP:0000734	HP:0031472	Risk taking	1	SPAST CL E G H	6683	182601	Spastic paraplegia 4, autosomal dominant	182601	C1866855	OMIM	1	1014	11233	604277
HP:0000734	HP:0100710	Impulsivity	1	SPAST CL E G H	6683	182601	Spastic paraplegia 4, autosomal dominant	182601	C1866855	OMIM	1	1014	11233	604277
HP:0000734	HP:0031472	Risk taking	1	SQSTM1 CL E G H	8878	275864				ORPHA	1	542	11280	601530
HP:0000734	HP:0100710	Impulsivity	1	SQSTM1 CL E G H	8878	275864				ORPHA	1	542	11280	601530
HP:0000734	HP:0031472	Risk taking	1	SQSTM1 CL E G H	8878	616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	616437	C4225326	OMIM	1	542	11280	601530
HP:0000734	HP:0100710	Impulsivity	1	SQSTM1 CL E G H	8878	616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	616437	C4225326	OMIM	1	542	11280	601530
HP:0000734	HP:0100710	Impulsivity	1	TARDBP CL E G H	23435	612069	Amyotrophic lateral sclerosis type 10	612069	C2677565	OMIM	1	259	11571	605078
HP:0000734	HP:0031472	Risk taking	1	TARDBP CL E G H	23435	612069	Amyotrophic lateral sclerosis type 10	612069	C2677565	OMIM	1	259	11571	605078
HP:0000734	HP:0031472	Risk taking	1	TBK1 CL E G H	29110	616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	616439	C4225325	OMIM	1	294	11584	604834
HP:0000734	HP:0100710	Impulsivity	1	TBK1 CL E G H	29110	616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	616439	C4225325	OMIM	1	294	11584	604834
HP:0000734	HP:0031472	Risk taking	1	TMEM106B CL E G H	54664	275864				ORPHA	1	87	22407	613413
HP:0000734	HP:0100710	Impulsivity	1	TMEM106B CL E G H	54664	275864				ORPHA	1	87	22407	613413
HP:0000734	HP:0100710	Impulsivity	1	TOMM40 CL E G H	10452	1020				ORPHA	1	14	18001	608061
HP:0000734	HP:0031472	Risk taking	1	TOMM40 CL E G H	10452	1020				ORPHA	1	14	18001	608061
HP:0000734	HP:0031472	Risk taking	1	TREM2 CL E G H	54209	1020				ORPHA	1	110	17761	605086
HP:0000734	HP:0100710	Impulsivity	1	TREM2 CL E G H	54209	1020				ORPHA	1	110	17761	605086
HP:0000734	HP:0031472	Risk taking	1	TREM2 CL E G H	54209	2770				ORPHA	1	110	17761	605086
HP:0000734	HP:0031472	Risk taking	1	TREM2 CL E G H	54209	275864				ORPHA	1	110	17761	605086
HP:0000734	HP:0100710	Impulsivity	1	TREM2 CL E G H	54209	2770				ORPHA	1	110	17761	605086
HP:0000734	HP:0100710	Impulsivity	1	TREM2 CL E G H	54209	275864				ORPHA	1	110	17761	605086
HP:0000734	HP:0031472	Risk taking	1	TYROBP CL E G H	7305	2770				ORPHA	1	85	12449	604142
HP:0000734	HP:0100710	Impulsivity	1	TYROBP CL E G H	7305	2770				ORPHA	1	85	12449	604142
HP:0000734	HP:0031472	Risk taking	1	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0000734	HP:0100710	Impulsivity	1	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0000734	HP:0100710	Impulsivity	1	VCP CL E G H	7415	275864				ORPHA	1	473	12666	601023
HP:0000734	HP:0031472	Risk taking	1	VCP CL E G H	7415	275864				ORPHA	1	473	12666	601023
HP:0000734	HP:0100710	Impulsivity	1	VPS13A CL E G H	23230	200150	Choreoacanthocytosis	200150	C0393576	OMIM	1	1735	1908	605978
HP:0000734	HP:0031472	Risk taking	1	VPS13A CL E G H	23230	200150	Choreoacanthocytosis	200150	C0393576	OMIM	1	1735	1908	605978
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000734	HP:0000734	Disinhibition	0	C9orf72 CL E G H	203228	275872				ORPHA	0	173	28337	614260
HP:0000734	HP:0000734	Disinhibition	0	CHCHD10 CL E G H	400916	275872				ORPHA	0	248	15559	615903
HP:0000734	HP:0000734	Disinhibition	0	FUS CL E G H	2521	275872				ORPHA	0	409	4010	137070
HP:0000734	HP:0000734	Disinhibition	0	SQSTM1 CL E G H	8878	275872				ORPHA	0	542	11280	601530
HP:0000734	HP:0000734	Disinhibition	0	TARDBP CL E G H	23435	275872				ORPHA	0	259	11571	605078
HP:0000734	HP:0000734	Disinhibition	0	TBK1 CL E G H	29110	275872				ORPHA	0	294	11584	604834
HP:0000734	HP:0000734	Disinhibition	0	VCP CL E G H	7415	275872				ORPHA	0	473	12666	601023
HP:0000734	HP:0031472	Risk taking	1	C9orf72 CL E G H	203228	275872				ORPHA	0	173	28337	614260
HP:0000734	HP:0100710	Impulsivity	1	C9orf72 CL E G H	203228	275872				ORPHA	0	173	28337	614260
HP:0000734	HP:0031472	Risk taking	1	CHCHD10 CL E G H	400916	275872				ORPHA	0	248	15559	615903
HP:0000734	HP:0100710	Impulsivity	1	CHCHD10 CL E G H	400916	275872				ORPHA	0	248	15559	615903
HP:0000734	HP:0031472	Risk taking	1	FUS CL E G H	2521	275872				ORPHA	0	409	4010	137070
HP:0000734	HP:0100710	Impulsivity	1	FUS CL E G H	2521	275872				ORPHA	0	409	4010	137070
HP:0000734	HP:0100710	Impulsivity	1	SQSTM1 CL E G H	8878	275872				ORPHA	0	542	11280	601530
HP:0000734	HP:0031472	Risk taking	1	SQSTM1 CL E G H	8878	275872				ORPHA	0	542	11280	601530
HP:0000734	HP:0031472	Risk taking	1	TARDBP CL E G H	23435	275872				ORPHA	0	259	11571	605078
HP:0000734	HP:0100710	Impulsivity	1	TARDBP CL E G H	23435	275872				ORPHA	0	259	11571	605078
HP:0000734	HP:0031472	Risk taking	1	TBK1 CL E G H	29110	275872				ORPHA	0	294	11584	604834
HP:0000734	HP:0100710	Impulsivity	1	TBK1 CL E G H	29110	275872				ORPHA	0	294	11584	604834
HP:0000734	HP:0031472	Risk taking	1	VCP CL E G H	7415	275872				ORPHA	0	473	12666	601023
HP:0000734	HP:0100710	Impulsivity	1	VCP CL E G H	7415	275872				ORPHA	0	473	12666	601023