Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal systemic arterial morphology (HP:0011004)

Parent Node:
Abnormal cerebral artery morphology (HP:0009145)

Parent Node:
Arterial stenosis (HP:0100545)

..Starting node
..Cerebral ischemia (HP:0002637)

Term ID:

2637

Name:

Cerebral ischemia

Synonym:

Brain ischemia; Cerebrovascular ischemia; Disruption of blood oxygen supply to brain

Definition:

Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.

Comments:

Reference:

HP:0002637

Genes and Diseases:

Child Nodes:

........

Ischemic stroke (HP:0002140)

........

Transient ischemic attack (HP:0002326)

Sister Nodes:

Carotid artery stenosis (HP:0100546)

Coronary artery atherosclerosis (HP:0001677)

Peripheral arterial stenosis (HP:0004950)

Renal artery stenosis (HP:0001920)

Retinal arteriolar occlusion (HP:0007985)

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:0002637	HP:0002637	Cerebral ischemia	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0002637	HP:0002637	Cerebral ischemia	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0002637	HP:0002637	Cerebral ischemia	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0002637	HP:0002637	Cerebral ischemia	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type		208
HP:0002637	HP:0002637	Cerebral ischemia	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0002637	HP:0002637	Cerebral ischemia	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0002637	HP:0002637	Cerebral ischemia	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0002637	HP:0002637	Cerebral ischemia	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0002637	HP:0002637	Cerebral ischemia	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0002637	HP:0002637	Cerebral ischemia	0	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm
HP:0002637	HP:0002637	Cerebral ischemia	0	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related	.	74
HP:0002637	HP:0002637	Cerebral ischemia	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002637	HP:0002637	Cerebral ischemia	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002637	HP:0002637	Cerebral ischemia	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional	276
HP:0002637	HP:0002637	Cerebral ischemia	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0002637	HP:0002637	Cerebral ischemia	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002637	HP:0002637	Cerebral ischemia	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002637	HP:0002637	Cerebral ischemia	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia		1
HP:0002637	HP:0002637	Cerebral ischemia	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent	242
HP:0002637	HP:0002637	Cerebral ischemia	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002637	HP:0002637	Cerebral ischemia	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type		5
HP:0002637	HP:0002637	Cerebral ischemia	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002637	HP:0002637	Cerebral ischemia	0	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm		749
HP:0002637	HP:0002637	Cerebral ischemia	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0002637	HP:0002637	Cerebral ischemia	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0002637	HP:0002637	Cerebral ischemia	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	10
HP:0002637	HP:0002637	Cerebral ischemia	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional	88
HP:0002637	HP:0002637	Cerebral ischemia	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002637	HP:0002637	Cerebral ischemia	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002637	HP:0002637	Cerebral ischemia	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0002637	HP:0002637	Cerebral ischemia	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0002637	HP:0002637	Cerebral ischemia	0	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm		186
HP:0002637	HP:0002637	Cerebral ischemia	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0002637	HP:0002637	Cerebral ischemia	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0002637	HP:0002637	Cerebral ischemia	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0002637	HP:0002637	Cerebral ischemia	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional	3
HP:0002637	HP:0002637	Cerebral ischemia	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002637	HP:0002637	Cerebral ischemia	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0002637	HP:0002637	Cerebral ischemia	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0002637	HP:0002637	Cerebral ischemia	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002637	HP:0002637	Cerebral ischemia	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0002637	HP:0002637	Cerebral ischemia	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type		87
HP:0002637	HP:0002637	Cerebral ischemia	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type		37
HP:0002637	HP:0002637	Cerebral ischemia	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0002637	HP:0002637	Cerebral ischemia	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0002637	HP:0002637	Cerebral ischemia	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0002637	HP:0002637	Cerebral ischemia	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002637	HP:0002637	Cerebral ischemia	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002637	HP:0002637	Cerebral ischemia	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002637	HP:0002637	Cerebral ischemia	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002637	HP:0002637	Cerebral ischemia	0	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia
HP:0002637	HP:0002637	Cerebral ischemia	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0002637	HP:0002637	Cerebral ischemia	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0002637	HP:0002637	Cerebral ischemia	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	4
HP:0002637	HP:0002637	Cerebral ischemia	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional	4
HP:0002637	HP:0002637	Cerebral ischemia	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0002637	HP:0002637	Cerebral ischemia	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	1
HP:0002637	HP:0002637	Cerebral ischemia	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	2
HP:0002637	HP:0002637	Cerebral ischemia	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0002637	HP:0002637	Cerebral ischemia	0	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0002637	HP:0002637	Cerebral ischemia	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0002637	HP:0002637	Cerebral ischemia	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0002637	HP:0002637	Cerebral ischemia	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0002637	HP:0002637	Cerebral ischemia	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002637	HP:0002637	Cerebral ischemia	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002637	HP:0002637	Cerebral ischemia	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional	31
HP:0002637	HP:0002637	Cerebral ischemia	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002637	HP:0002637	Cerebral ischemia	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia		57
HP:0002637	HP:0002637	Cerebral ischemia	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	57
HP:0002637	HP:0002637	Cerebral ischemia	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0002637	HP:0002637	Cerebral ischemia	0	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3		57
HP:0002637	HP:0002637	Cerebral ischemia	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002637	HP:0002637	Cerebral ischemia	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0002637	HP:0002637	Cerebral ischemia	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002637	HP:0002637	Cerebral ischemia	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0002637	HP:0002637	Cerebral ischemia	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0002637	HP:0002637	Cerebral ischemia	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0002637	HP:0002637	Cerebral ischemia	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0002637	HP:0002637	Cerebral ischemia	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002637	HP:0002637	Cerebral ischemia	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0002637	HP:0002637	Cerebral ischemia	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional
HP:0002637	HP:0002637	Cerebral ischemia	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0002637	HP:0002637	Cerebral ischemia	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia		97
HP:0002637	HP:0002637	Cerebral ischemia	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	97
HP:0002637	HP:0002637	Cerebral ischemia	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0002637	HP:0002637	Cerebral ischemia	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0002637	HP:0002637	Cerebral ischemia	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type		452
HP:0002637	HP:0002637	Cerebral ischemia	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040283 - Occasional	1269
HP:0002637	HP:0002637	Cerebral ischemia	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0002637	HP:0002637	Cerebral ischemia	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040284 - Very rare	36
HP:0002637	HP:0002637	Cerebral ischemia	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0002637	HP:0002637	Cerebral ischemia	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type		90
HP:0002637	HP:0002637	Cerebral ischemia	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0002637	HP:0002637	Cerebral ischemia	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040282 - Frequent	144
HP:0002637	HP:0002637	Cerebral ischemia	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0002637	HP:0002637	Cerebral ischemia	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	3
HP:0002637	HP:0002637	Cerebral ischemia	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0002637	HP:0002637	Cerebral ischemia	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040283 - Occasional	162
HP:0002637	HP:0002637	Cerebral ischemia	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0002637	HP:0002637	Cerebral ischemia	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0002637	HP:0002637	Cerebral ischemia	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	3
HP:0002637	HP:0002637	Cerebral ischemia	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	3
HP:0002637	HP:0002637	Cerebral ischemia	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional	88
HP:0002637	HP:0002637	Cerebral ischemia	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002637	HP:0002637	Cerebral ischemia	0	RNF213 CL E G H	57674	14539	OMIM:607151	MOYAMOYA DISEASE 2; MYMY2		14
HP:0002637	HP:0002637	Cerebral ischemia	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0002637	HP:0002637	Cerebral ischemia	0	SCNN1A CL E G H	6337	10599	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent	67
HP:0002637	HP:0002637	Cerebral ischemia	0	SCNN1B CL E G H	6338	10600	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent	61
HP:0002637	HP:0002637	Cerebral ischemia	0	SCNN1G CL E G H	6340	10602	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent	57
HP:0002637	HP:0002637	Cerebral ischemia	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia		4
HP:0002637	HP:0002637	Cerebral ischemia	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0002637	HP:0002637	Cerebral ischemia	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0002637	HP:0002637	Cerebral ischemia	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0002637	HP:0002637	Cerebral ischemia	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0002637	HP:0002637	Cerebral ischemia	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0002637	HP:0002637	Cerebral ischemia	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0002637	HP:0002637	Cerebral ischemia	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0002637	HP:0002637	Cerebral ischemia	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0002637	HP:0002637	Cerebral ischemia	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0002637	HP:0002637	Cerebral ischemia	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002637	HP:0002637	Cerebral ischemia	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002637	HP:0002637	Cerebral ischemia	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type		20
HP:0002637	HP:0002637	Cerebral ischemia	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia		3
HP:0002637	HP:0002637	Cerebral ischemia	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0002637	HP:0002637	Cerebral ischemia	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0002637	HP:0002637	Cerebral ischemia	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0002637	HP:0002637	Cerebral ischemia	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0002637	HP:0002637	Cerebral ischemia	0	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm		1
HP:0002637	HP:0002637	Cerebral ischemia	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	23
HP:0002637	HP:0002637	Cerebral ischemia	0	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm		2
HP:0002637	HP:0002637	Cerebral ischemia	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type		6
HP:0002637	HP:0002637	Cerebral ischemia	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0002637	HP:0002637	Cerebral ischemia	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002637	HP:0002637	Cerebral ischemia	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia		911
HP:0002637	HP:0002637	Cerebral ischemia	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002637	HP:0002637	Cerebral ischemia	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002637	HP:0002637	Cerebral ischemia	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0002637	HP:0002326	Transient ischemic attack	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	415
HP:0002637	HP:0002326	Transient ischemic attack	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0002637	HP:0002140	Ischemic stroke	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0002637	HP:0002326	Transient ischemic attack	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040283 - Occasional	72
HP:0002637	HP:0002326	Transient ischemic attack	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	208
HP:0002637	HP:0002326	Transient ischemic attack	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040283 - Occasional	123
HP:0002637	HP:0002326	Transient ischemic attack	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0002637	HP:0002326	Transient ischemic attack	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0002637	HP:0002140	Ischemic stroke	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0002637	HP:0002140	Ischemic stroke	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0002637	HP:0002326	Transient ischemic attack	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0002637	HP:0002326	Transient ischemic attack	1	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent
HP:0002637	HP:0002140	Ischemic stroke	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040282 - Frequent	8
HP:0002637	HP:0002326	Transient ischemic attack	1	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	1
HP:0002637	HP:0002326	Transient ischemic attack	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	5
HP:0002637	HP:0002326	Transient ischemic attack	1	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent	749
HP:0002637	HP:0002326	Transient ischemic attack	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0002637	HP:0002140	Ischemic stroke	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.	193
HP:0002637	HP:0002140	Ischemic stroke	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0002637	HP:0002326	Transient ischemic attack	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0002637	HP:0002326	Transient ischemic attack	1	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent	186
HP:0002637	HP:0002326	Transient ischemic attack	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0002637	HP:0002140	Ischemic stroke	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0002637	HP:0002326	Transient ischemic attack	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0002637	HP:0002326	Transient ischemic attack	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	151
HP:0002637	HP:0002326	Transient ischemic attack	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0002637	HP:0002140	Ischemic stroke	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0002637	HP:0002326	Transient ischemic attack	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0002637	HP:0002140	Ischemic stroke	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0002637	HP:0002326	Transient ischemic attack	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	87
HP:0002637	HP:0002326	Transient ischemic attack	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	37
HP:0002637	HP:0002326	Transient ischemic attack	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0002637	HP:0002326	Transient ischemic attack	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0002637	HP:0002326	Transient ischemic attack	1	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0002637	HP:0002140	Ischemic stroke	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002637	HP:0002140	Ischemic stroke	1	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia	HP:0040283 - Occasional
HP:0002637	HP:0002326	Transient ischemic attack	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0002637	HP:0002140	Ischemic stroke	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0002637	HP:0002140	Ischemic stroke	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0002637	HP:0002326	Transient ischemic attack	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0002637	HP:0002326	Transient ischemic attack	1	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	.	34
HP:0002637	HP:0002140	Ischemic stroke	1	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0002637	HP:0002326	Transient ischemic attack	1	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	57
HP:0002637	HP:0002326	Transient ischemic attack	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	57
HP:0002637	HP:0002140	Ischemic stroke	1	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3		57
HP:0002637	HP:0002326	Transient ischemic attack	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0002637	HP:0002326	Transient ischemic attack	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0002637	HP:0002140	Ischemic stroke	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0002637	HP:0002326	Transient ischemic attack	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0002637	HP:0002326	Transient ischemic attack	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0002637	HP:0002140	Ischemic stroke	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0002637	HP:0002140	Ischemic stroke	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0002637	HP:0002326	Transient ischemic attack	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0002637	HP:0002326	Transient ischemic attack	1	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	97
HP:0002637	HP:0002326	Transient ischemic attack	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	97
HP:0002637	HP:0002326	Transient ischemic attack	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.	1143
HP:0002637	HP:0002140	Ischemic stroke	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0002637	HP:0002326	Transient ischemic attack	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0002637	HP:0002326	Transient ischemic attack	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	452
HP:0002637	HP:0002140	Ischemic stroke	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0002637	HP:0002326	Transient ischemic attack	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0002637	HP:0002326	Transient ischemic attack	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	90
HP:0002637	HP:0002140	Ischemic stroke	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0002637	HP:0002140	Ischemic stroke	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0002637	HP:0002326	Transient ischemic attack	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040282 - Frequent	144
HP:0002637	HP:0002140	Ischemic stroke	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	13
HP:0002637	HP:0002140	Ischemic stroke	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0002637	HP:0002326	Transient ischemic attack	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0002637	HP:0002140	Ischemic stroke	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0002637	HP:0002326	Transient ischemic attack	1	RNF213 CL E G H	57674	14539	OMIM:607151	MOYAMOYA DISEASE 2; MYMY2		14
HP:0002637	HP:0002140	Ischemic stroke	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	1134
HP:0002637	HP:0002326	Transient ischemic attack	1	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	4
HP:0002637	HP:0002140	Ischemic stroke	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0002637	HP:0002326	Transient ischemic attack	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0002637	HP:0002140	Ischemic stroke	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0002637	HP:0002326	Transient ischemic attack	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0002637	HP:0002140	Ischemic stroke	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0002637	HP:0002140	Ischemic stroke	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0002637	HP:0002326	Transient ischemic attack	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0002637	HP:0002326	Transient ischemic attack	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0002637	HP:0002326	Transient ischemic attack	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0002637	HP:0002140	Ischemic stroke	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0002637	HP:0002326	Transient ischemic attack	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0002637	HP:0002326	Transient ischemic attack	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002637	HP:0002140	Ischemic stroke	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002637	HP:0002326	Transient ischemic attack	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	20
HP:0002637	HP:0002326	Transient ischemic attack	1	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	3
HP:0002637	HP:0002140	Ischemic stroke	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0002637	HP:0002326	Transient ischemic attack	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0002637	HP:0002326	Transient ischemic attack	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0002637	HP:0002140	Ischemic stroke	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0002637	HP:0002326	Transient ischemic attack	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0002637	HP:0002140	Ischemic stroke	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0002637	HP:0002140	Ischemic stroke	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0002637	HP:0002326	Transient ischemic attack	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0002637	HP:0002326	Transient ischemic attack	1	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent	1
HP:0002637	HP:0002326	Transient ischemic attack	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	23
HP:0002637	HP:0002326	Transient ischemic attack	1	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent	2
HP:0002637	HP:0002326	Transient ischemic attack	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	6
HP:0002637	HP:0002326	Transient ischemic attack	1	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	911
HP:0002637	HP:0002326	Transient ischemic attack	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0002637	HP:0032325	Lacunar stroke	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0002637	HP:0032325	Lacunar stroke	2	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0002637	HP:0032325	Lacunar stroke	2	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0002637	HP:0032325	Lacunar stroke	2	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040281 - Very frequent	144
HP:0002637	HP:0032325	Lacunar stroke	2	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0002637	HP:0032570	Pontine ischemic lacunes	3	CL E G H

Genes (120) :ABCC6 ACTA2 ACTB ACTC1 ACTG1 ACVRL1 ADA2 ADAMTS13 ANGPTL6 APP BAZ1B BCL7B BRAF BRCC3 BUD23 C4A CALR CBS CCR1 CITED2 CLIP2 COL3A1 COL4A1 CTLA4 CTNNB1 DNAJC30 EIF4H ELN ENG ENPP1 EPHB4 ERAP1 FAS FBN1 FKBP6 FOXE3 GATA4 GATA6 GDF2 GLA GNB2 GTF2I GTF2IRD1 GTF2IRD2 GUCY1A1 HEY2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HTRA1 IFNGR1 IKBKG IL10 IL12A IL12A-AS1 IL12B IL23R JAK2 KLRC4 KRAS LIMK1 LMNA LOX MAT2A MEFV METTL27 MFAP5 MLX MLXIPL MPL MYBPC3 MYH11 MYH6 MYH7 MYLK NAGS NCF1 NKX2-5 NOTCH3 NPPA P4HA2 PIK3C2A PIK3CA PRKG1 PRTN3 PTPN22 RASA1 RFC2 RNF213 SCN5A SCNN1A SCNN1B SCNN1G SH2B3 SLC2A10 SMAD2 SMAD3 SMAD4 SMARCAL1 SON STAT4 STX1A TBL2 TBX20 TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THPO THSD1 TLL1 TLR4 TMEM270 TP53 UBAC2 VPS37D ZMPSTE24

Diseases (49) :ORPHA:51608 ORPHA:91387 ORPHA:2995 ORPHA:99103 ORPHA:774 OMIM:600376 OMIM:182410 OMIM:274150 ORPHA:231160 OMIM:605714 ORPHA:904 ORPHA:54595 ORPHA:280679 ORPHA:117 ORPHA:3318 ORPHA:394 ORPHA:286 OMIM:175780 ORPHA:900 OMIM:187300 ORPHA:137667 OMIM:301500 ORPHA:324 OMIM:619503 OMIM:615750 ORPHA:397 ORPHA:3287 OMIM:600142 OMIM:616779 ORPHA:464 ORPHA:71493 OMIM:263300 OMIM:614521 OMIM:600268 ORPHA:740 OMIM:115197 ORPHA:1880 ORPHA:927 OMIM:125310 ORPHA:136 ORPHA:1344 OMIM:618440 ORPHA:60040 OMIM:607151 ORPHA:526 OMIM:208050 OMIM:242900 ORPHA:1830 ORPHA:500150

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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