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:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent	60
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation		37
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040283 - Occasional	42
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency		61
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional	30
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation		92
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent	411
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency		7
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency		32
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency		1
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency		40
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency		26
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency		31
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency		50
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency		34
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency		3
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency		9
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency		16
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency		81
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency		65
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency		22
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency		27
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency		21
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency		38
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency		42
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency		74
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency		27
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency		89
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation		21
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent	57
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040282 - Frequent	110
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency		1
HP:0012747	HP:0012747	Abnormal brainstem MRI signal intensity	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency		4
HP:0012747	HP:0012750	T2 hypointense brainstem	1	CL E G H
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	37
HP:0012747	HP:0012749	Focal T2 hypointense brainstem lesion	1	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	37
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	61
HP:0012747	HP:0012749	Focal T2 hypointense brainstem lesion	1	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	92
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	92
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	7
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	32
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	40
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	26
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	31
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	50
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	34
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	3
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	9
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	16
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	81
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	65
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	22
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	21
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	38
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	42
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	74
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	89
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	21
HP:0012747	HP:0012749	Focal T2 hypointense brainstem lesion	1	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	21
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0012747	HP:0012748	Focal T2 hyperintense brainstem lesion	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	4