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:0007204	HP:0007204	Diffuse white matter abnormalities	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	118
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	405
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	157
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040282 - Frequent	120
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	34
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	36
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.	82
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	HEPACAM CL E G H	220296	26361	OMIM:613926	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation	.	82
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.	34
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	145
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	31
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	65
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia		3
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form		60
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form		60
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	244
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	180
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	18
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	213
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	221
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	126
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	427
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	40
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	11
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	73
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent	1
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0007204	HP:0007204	Diffuse white matter abnormalities	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	1
HP:0007204	HP:0040333	Confluent hypointensity of cerebral white matter on MRI	1	CL E G H
HP:0007204	HP:0040330	Confluent hyperintensity of cerebral white matter on MRI	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040281 - Very frequent	60
HP:0007204	HP:0040330	Confluent hyperintensity of cerebral white matter on MRI	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040282 - Frequent	60