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:0002300	HP:0002300	Mutism	0	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0002300	HP:0002300	Mutism	0	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0002300	HP:0002300	Mutism	0	ADAMTS2 CL E G H	9509	1901				ORPHA	1	1499	218	604539
HP:0002300	HP:0002300	Mutism	0	ATP1A3 CL E G H	478	71517				ORPHA	1	993	801	182350
HP:0002300	HP:0002300	Mutism	0	ATP1A3 CL E G H	478	128235	Dystonia 12	128235	C1868681	OMIM	1	993	801	182350
HP:0002300	HP:0002300	Mutism	0	CHMP2B CL E G H	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	600795	C1833296	OMIM	1	160	24537	609512
HP:0002300	HP:0002300	Mutism	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	168	26877	616174
HP:0002300	HP:0002300	Mutism	0	COL1A1 CL E G H	1277	1899				ORPHA	1	2428	2197	120150
HP:0002300	HP:0002300	Mutism	0	COL1A2 CL E G H	1278	1899				ORPHA	1	1759	2198	120160
HP:0002300	HP:0002300	Mutism	0	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	696	2433	164770
HP:0002300	HP:0002300	Mutism	0	EHMT1 CL E G H	79813	96147				ORPHA	1	1923	24650	607001
HP:0002300	HP:0002300	Mutism	0	FGFR1 CL E G H	2260	2396				ORPHA	1	936	3688	136350
HP:0002300	HP:0002300	Mutism	0	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	185	3999	134790
HP:0002300	HP:0002300	Mutism	0	GRN CL E G H	2896	607485	Frontotemporal dementia, ubiquitin-positive	607485	C1843792	OMIM	1	594	4601	138945
HP:0002300	HP:0002300	Mutism	0	KRAS CL E G H	3845	2396				ORPHA	1	480	6407	190070
HP:0002300	HP:0002300	Mutism	0	MAPT CL E G H	4137	601104	Progressive supranuclear ophthalmoplegia	601104	C0038868	OMIM	1	581	6893	157140
HP:0002300	HP:0002300	Mutism	0	NDUFA6 CL E G H	4700	618253	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33	618253		OMIM	1	90	7690	602138
HP:0002300	HP:0002300	Mutism	0	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0002300	HP:0002300	Mutism	0	PRDM8 CL E G H	56978	616640	Epilepsy, progressive myoclonic, 10	616640	C4225258	OMIM	1	439	13993	616639
HP:0002300	HP:0002300	Mutism	0	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0002300	HP:0002300	Mutism	0	SLC9A6 CL E G H	10479	85278				ORPHA	1	612	11079	300231
HP:0002300	HP:0002300	Mutism	0	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0002300	HP:0002300	Mutism	0	SMARCA2 CL E G H	6595	3051				ORPHA	1	1130	11098	600014
HP:0002300	HP:0002300	Mutism	0	SQSTM1 CL E G H	8878	616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	616437	C4225326	OMIM	1	677	11280	601530
HP:0002300	HP:0002300	Mutism	0	TBK1 CL E G H	29110	616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	616439	C4225325	OMIM	1	382	11584	604834
HP:0002300	HP:0002300	Mutism	0	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	131	11588	600075
HP:0002300	HP:0002300	Mutism	0	TCF4 CL E G H	6925	2896	Hypogonadism retinitis pigmentosa			ORPHA	1	1069	11634	602272
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002300	HP:0002300	Mutism	0	AMER1 CL E G H	139285	2780	Hydronephrosis congenital			ORPHA	0	450	26837	300647
HP:0002300	HP:0002300	Mutism	0	C9orf72 CL E G H	203228	275864				ORPHA	0	177	28337	614260
HP:0002300	HP:0002300	Mutism	0	C9orf72 CL E G H	203228	100070				ORPHA	0	177	28337	614260
HP:0002300	HP:0002300	Mutism	0	C9orf72 CL E G H	203228	275872				ORPHA	0	177	28337	614260
HP:0002300	HP:0002300	Mutism	0	CHCHD10 CL E G H	400916	275872				ORPHA	0	297	15559	615903
HP:0002300	HP:0002300	Mutism	0	CHMP2B CL E G H	25978	275864				ORPHA	0	160	24537	609512
HP:0002300	HP:0002300	Mutism	0	CHMP2B CL E G H	25978	100070				ORPHA	0	160	24537	609512
HP:0002300	HP:0002300	Mutism	0	COX7B CL E G H	1349	2556				ORPHA	0	181	2291	300885
HP:0002300	HP:0002300	Mutism	0	FUS CL E G H	2521	275872				ORPHA	0	474	4010	137070
HP:0002300	HP:0002300	Mutism	0	GRN CL E G H	2896	275864				ORPHA	0	594	4601	138945
HP:0002300	HP:0002300	Mutism	0	GRN CL E G H	2896	100070				ORPHA	0	594	4601	138945
HP:0002300	HP:0002300	Mutism	0	HCCS CL E G H	3052	2556				ORPHA	0	234	4837	300056
HP:0002300	HP:0002300	Mutism	0	HNRNPA1 CL E G H	3178	52430				ORPHA	0	80	5031	164017
HP:0002300	HP:0002300	Mutism	0	HNRNPA2B1 CL E G H	3181	52430				ORPHA	0	295	5033	600124
HP:0002300	HP:0002300	Mutism	0	MAPT CL E G H	4137	275864				ORPHA	0	581	6893	157140
HP:0002300	HP:0002300	Mutism	0	MAPT CL E G H	4137	100070				ORPHA	0	581	6893	157140
HP:0002300	HP:0002300	Mutism	0	NDUFB11 CL E G H	54539	2556				ORPHA	0	209	20372	300403
HP:0002300	HP:0002300	Mutism	0	PRDM8 CL E G H	56978	324290				ORPHA	0	439	13993	616639
HP:0002300	HP:0002300	Mutism	0	PSEN1 CL E G H	5663	100070				ORPHA	0	501	9508	104311
HP:0002300	HP:0002300	Mutism	0	PSEN1 CL E G H	5663	275864				ORPHA	0	501	9508	104311
HP:0002300	HP:0002300	Mutism	0	SQSTM1 CL E G H	8878	275872				ORPHA	0	677	11280	601530
HP:0002300	HP:0002300	Mutism	0	SQSTM1 CL E G H	8878	275864				ORPHA	0	677	11280	601530
HP:0002300	HP:0002300	Mutism	0	TARDBP CL E G H	23435	275872				ORPHA	0	309	11571	605078
HP:0002300	HP:0002300	Mutism	0	TBK1 CL E G H	29110	275872				ORPHA	0	382	11584	604834
HP:0002300	HP:0002300	Mutism	0	TMEM106B CL E G H	54664	275864				ORPHA	0	128	22407	613413
HP:0002300	HP:0002300	Mutism	0	TMEM106B CL E G H	54664	100070				ORPHA	0	128	22407	613413
HP:0002300	HP:0002300	Mutism	0	TREM2 CL E G H	54209	275864				ORPHA	0	154	17761	605086
HP:0002300	HP:0002300	Mutism	0	TREM2 CL E G H	54209	100070				ORPHA	0	154	17761	605086
HP:0002300	HP:0002300	Mutism	0	VCP CL E G H	7415	52430				ORPHA	0	607	12666	601023
HP:0002300	HP:0002300	Mutism	0	VCP CL E G H	7415	275864				ORPHA	0	607	12666	601023
HP:0002300	HP:0002300	Mutism	0	VCP CL E G H	7415	275872				ORPHA	0	607	12666	601023
HP:0002300	HP:0002300	Mutism	0	VCP CL E G H	7415	100070				ORPHA	0	607	12666	601023