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:0002300	HP:0002300	Mutism	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0002300	HP:0002300	Mutism	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0002300	HP:0002300	Mutism	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0002300	HP:0002300	Mutism	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0002300	HP:0002300	Mutism	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional	34
HP:0002300	HP:0002300	Mutism	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional	78
HP:0002300	HP:0002300	Mutism	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.	150
HP:0002300	HP:0002300	Mutism	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040282 - Frequent	150
HP:0002300	HP:0002300	Mutism	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	56
HP:0002300	HP:0002300	Mutism	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	56
HP:0002300	HP:0002300	Mutism	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	56
HP:0002300	HP:0002300	Mutism	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	405
HP:0002300	HP:0002300	Mutism	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	11
HP:0002300	HP:0002300	Mutism	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	42
HP:0002300	HP:0002300	Mutism	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.	42
HP:0002300	HP:0002300	Mutism	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	42
HP:0002300	HP:0002300	Mutism	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent	7
HP:0002300	HP:0002300	Mutism	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0002300	HP:0002300	Mutism	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0002300	HP:0002300	Mutism	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0002300	HP:0002300	Mutism	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.	149
HP:0002300	HP:0002300	Mutism	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.	149
HP:0002300	HP:0002300	Mutism	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent	223
HP:0002300	HP:0002300	Mutism	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0002300	HP:0002300	Mutism	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.	33
HP:0002300	HP:0002300	Mutism	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	105
HP:0002300	HP:0002300	Mutism	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	5
HP:0002300	HP:0002300	Mutism	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0002300	HP:0002300	Mutism	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040282 - Frequent	108
HP:0002300	HP:0002300	Mutism	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional	434
HP:0002300	HP:0002300	Mutism	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	126
HP:0002300	HP:0002300	Mutism	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0002300	HP:0002300	Mutism	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	126
HP:0002300	HP:0002300	Mutism	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0002300	HP:0002300	Mutism	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	31
HP:0002300	HP:0002300	Mutism	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	5
HP:0002300	HP:0002300	Mutism	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0002300	HP:0002300	Mutism	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0002300	HP:0002300	Mutism	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	140
HP:0002300	HP:0002300	Mutism	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	140
HP:0002300	HP:0002300	Mutism	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0002300	HP:0002300	Mutism	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	950
HP:0002300	HP:0002300	Mutism	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.	1
HP:0002300	HP:0002300	Mutism	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0002300	HP:0002300	Mutism	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	1
HP:0002300	HP:0002300	Mutism	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0002300	HP:0002300	Mutism	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent	759
HP:0002300	HP:0002300	Mutism	0	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040283 - Occasional	1
HP:0002300	HP:0002300	Mutism	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10	.	1
HP:0002300	HP:0002300	Mutism	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent	49
HP:0002300	HP:0002300	Mutism	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	241
HP:0002300	HP:0002300	Mutism	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	241
HP:0002300	HP:0002300	Mutism	0	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040282 - Frequent	143
HP:0002300	HP:0002300	Mutism	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0002300	HP:0002300	Mutism	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0002300	HP:0002300	Mutism	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040282 - Frequent	93
HP:0002300	HP:0002300	Mutism	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.	93
HP:0002300	HP:0002300	Mutism	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent	146
HP:0002300	HP:0002300	Mutism	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	135
HP:0002300	HP:0002300	Mutism	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	62
HP:0002300	HP:0002300	Mutism	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.	62
HP:0002300	HP:0002300	Mutism	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	62
HP:0002300	HP:0002300	Mutism	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	65
HP:0002300	HP:0002300	Mutism	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.	20
HP:0002300	HP:0002300	Mutism	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	20
HP:0002300	HP:0002300	Mutism	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0002300	HP:0002300	Mutism	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0002300	HP:0002300	Mutism	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional
HP:0002300	HP:0002300	Mutism	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional
HP:0002300	HP:0002300	Mutism	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	31
HP:0002300	HP:0002300	Mutism	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	31
HP:0002300	HP:0002300	Mutism	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	63
HP:0002300	HP:0002300	Mutism	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	63
HP:0002300	HP:0002300	Mutism	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	63
HP:0002300	HP:0002300	Mutism	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	63