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:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type		111
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional	115
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I		188
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional	30
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	17
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	464
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0012696	HP:0012696	Abnormal thalamic MRI signal intensity	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	113
HP:0012696	HP:0012691	Focal T2 hypointense thalamic lesion	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0012696	HP:0012691	Focal T2 hypointense thalamic lesion	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0012696	HP:0012690	T2 hypointense thalamus	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040283 - Occasional	111
HP:0012696	HP:0012692	Focal T2 hyperintense thalamic lesion	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0012696	HP:0012690	T2 hypointense thalamus	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0012696	HP:0012691	Focal T2 hypointense thalamic lesion	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0012696	HP:0012691	Focal T2 hypointense thalamic lesion	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0012696	HP:0012691	Focal T2 hypointense thalamic lesion	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0012696	HP:0012692	Focal T2 hyperintense thalamic lesion	1	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0012696	HP:0012691	Focal T2 hypointense thalamic lesion	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0012696	HP:0012691	Focal T2 hypointense thalamic lesion	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0012696	HP:0012691	Focal T2 hypointense thalamic lesion	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0012696	HP:0012691	Focal T2 hypointense thalamic lesion	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0012696	HP:0012691	Focal T2 hypointense thalamic lesion	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0012696	HP:0012691	Focal T2 hypointense thalamic lesion	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0012696	HP:0012690	T2 hypointense thalamus	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31