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:0010526	HP:0010526	Dysgraphia	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	3
HP:0010526	HP:0010526	Dysgraphia	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	74
HP:0010526	HP:0010526	Dysgraphia	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010526	HP:0010526	Dysgraphia	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010526	HP:0010526	Dysgraphia	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	385
HP:0010526	HP:0010526	Dysgraphia	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010526	HP:0010526	Dysgraphia	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	56
HP:0010526	HP:0010526	Dysgraphia	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	56
HP:0010526	HP:0010526	Dysgraphia	0	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	56
HP:0010526	HP:0010526	Dysgraphia	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	42
HP:0010526	HP:0010526	Dysgraphia	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	42
HP:0010526	HP:0010526	Dysgraphia	0	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	42
HP:0010526	HP:0010526	Dysgraphia	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010526	HP:0010526	Dysgraphia	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010526	HP:0010526	Dysgraphia	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010526	HP:0010526	Dysgraphia	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0010526	HP:0010526	Dysgraphia	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	170
HP:0010526	HP:0010526	Dysgraphia	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	15
HP:0010526	HP:0010526	Dysgraphia	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040284 - Very rare	47
HP:0010526	HP:0010526	Dysgraphia	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010526	HP:0010526	Dysgraphia	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	126
HP:0010526	HP:0010526	Dysgraphia	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	126
HP:0010526	HP:0010526	Dysgraphia	0	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	126
HP:0010526	HP:0010526	Dysgraphia	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0010526	HP:0010526	Dysgraphia	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0010526	HP:0010526	Dysgraphia	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0010526	HP:0010526	Dysgraphia	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	196
HP:0010526	HP:0010526	Dysgraphia	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010526	HP:0010526	Dysgraphia	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	140
HP:0010526	HP:0010526	Dysgraphia	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	140
HP:0010526	HP:0010526	Dysgraphia	0	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	140
HP:0010526	HP:0010526	Dysgraphia	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0010526	HP:0010526	Dysgraphia	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1819
HP:0010526	HP:0010526	Dysgraphia	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	131
HP:0010526	HP:0010526	Dysgraphia	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0010526	HP:0010526	Dysgraphia	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2162
HP:0010526	HP:0010526	Dysgraphia	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2232
HP:0010526	HP:0010526	Dysgraphia	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0010526	HP:0010526	Dysgraphia	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	162
HP:0010526	HP:0010526	Dysgraphia	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	56
HP:0010526	HP:0010526	Dysgraphia	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1121
HP:0010526	HP:0010526	Dysgraphia	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	241
HP:0010526	HP:0010526	Dysgraphia	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	241
HP:0010526	HP:0010526	Dysgraphia	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	241
HP:0010526	HP:0010526	Dysgraphia	0	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	241
HP:0010526	HP:0010526	Dysgraphia	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	59
HP:0010526	HP:0010526	Dysgraphia	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010526	HP:0010526	Dysgraphia	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	1
HP:0010526	HP:0010526	Dysgraphia	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	48
HP:0010526	HP:0010526	Dysgraphia	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	3
HP:0010526	HP:0010526	Dysgraphia	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0010526	HP:0010526	Dysgraphia	0	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040282 - Frequent	28
HP:0010526	HP:0010526	Dysgraphia	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	62
HP:0010526	HP:0010526	Dysgraphia	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010526	HP:0010526	Dysgraphia	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010526	HP:0010526	Dysgraphia	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	253
HP:0010526	HP:0010526	Dysgraphia	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0010526	HP:0010526	Dysgraphia	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional
HP:0010526	HP:0010526	Dysgraphia	0	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent
HP:0010526	HP:0010526	Dysgraphia	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.	9
HP:0010526	HP:0010526	Dysgraphia	0	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21	HP:0040282 - Frequent	9
HP:0010526	HP:0010526	Dysgraphia	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0010526	HP:0010526	Dysgraphia	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0010526	HP:0010526	Dysgraphia	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0010526	HP:0010526	Dysgraphia	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	31
HP:0010526	HP:0010526	Dysgraphia	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	31
HP:0010526	HP:0010526	Dysgraphia	0	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	31
HP:0010526	HP:0010526	Dysgraphia	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	63
HP:0010526	HP:0010526	Dysgraphia	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	63
HP:0010526	HP:0010526	Dysgraphia	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent