Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001297 | HP:0001297 | Stroke | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040284 - Very rare | | | 415 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 415 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ACAD9 CL E G H | 28976 | 21497 | OMIM:611126 | Mitochondrial complex I deficiency due to acad9 deficiency | . | | | 98 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ACTA2 CL E G H | 59 | 130 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 94 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 72 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ACTC1 CL E G H | 70 | 143 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 208 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 123 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 178 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | | | | 178 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | | | | 129 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | AGXT CL E G H | 189 | 341 | ORPHA:93598 | Primary hyperoxaluria type 1 | HP:0040284 - Very rare | | | 260 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ALOX5AP CL E G H | 241 | 436 | OMIM:601367 | STROKE, ISCHEMIC | | | | 1 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ANGPTL6 CL E G H | 83854 | 23140 | ORPHA:231160 | Familial cerebral saccular aneurysm | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | APP CL E G H | 351 | 620 | ORPHA:100006 | ABeta amyloidosis, Dutch type | HP:0040281 - Very frequent | | | 74 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | APP CL E G H | 351 | 620 | ORPHA:324708 | ABeta amyloidosis, Iowa type | HP:0040281 - Very frequent | | | 74 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | APP CL E G H | 351 | 620 | ORPHA:324713 | ABeta amyloidosis, Italian type | HP:0040281 - Very frequent | | | 74 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | APP CL E G H | 351 | 620 | ORPHA:324703 | ABetaL34V amyloidosis | HP:0040281 - Very frequent | | | 74 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | APP CL E G H | 351 | 620 | OMIM:605714 | Cerebral amyloid angiopathy, APP-related | . | | | 74 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ASS1 CL E G H | 445 | 758 | OMIM:215700 | Citrullinemia, classic | HP:0040283 - Occasional | | | 119 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | BRCC3 CL E G H | 79184 | 24185 | ORPHA:280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | | | | 8 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | CALR CL E G H | 811 | 1455 | ORPHA:3318 | Essential thrombocythemia | | | | 1 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | . | | | 242 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | CCM2 CL E G H | 83605 | 21708 | OMIM:603284 | Cerebral cavernous malformations-2 | . | | | 37 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 5 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99105 | Atrial septal defect, sinus venosus type | HP:0040284 - Very rare | | | 5 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:231160 | Familial cerebral saccular aneurysm | | | | 749 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | | | | 749 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:611773 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | HP:0040283 - Occasional | | | 193 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | CPS1 CL E G H | 1373 | 2323 | OMIM:237300 | Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to | HP:0040283 - Occasional | | | 124 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | CST3 CL E G H | 1471 | 2475 | ORPHA:100008 | ACys amyloidosis | HP:0040281 - Very frequent | | | 3 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | CST3 CL E G H | 1471 | 2475 | OMIM:105150 | Amyloidosis VI | . | | | 3 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | | | | 38 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | DPM3 CL E G H | 54344 | 3007 | ORPHA:263494 | DPM3-CDG | | | | 9 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | DYRK1B CL E G H | 9149 | 3092 | OMIM:615812 | Abdominal obesity-metabolic syndrome 3 | HP:0040283 - Occasional | | | 7 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 172 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:231160 | Familial cerebral saccular aneurysm | | | | 186 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 186 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040284 - Very rare | | | 151 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 199 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 55 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | F2 CL E G H | 2147 | 3535 | OMIM:601367 | STROKE, ISCHEMIC | | | | 44 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | F5 CL E G H | 2153 | 3542 | OMIM:601367 | STROKE, ISCHEMIC | | | | 159 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 1361 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | FHOD3 CL E G H | 80206 | 26178 | OMIM:619402 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28 | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300049 | Heterotopia, periventricular, X-linked dominant | . | | | 493 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:617047 | Cardiomyopathy, familial hypertrophic, 26 | | | | 197 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040284 - Very rare | | | 197 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 23 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 87 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 37 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 8 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | | | | 291 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | | | | 291 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | GUCY1A1 CL E G H | 2982 | 4685 | OMIM:615750 | Moyamoya disease 6 with achalasia | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | GUCY1A1 CL E G H | 2982 | 4685 | ORPHA:401945 | Moyamoya disease with early-onset achalasia | HP:0040280 - Obligate | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | GYS1 CL E G H | 2997 | 4706 | OMIM:611556 | Glycogen storage disease 0, muscle | . | | | 52 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | . | | | 580 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | HEY2 CL E G H | 23493 | 4881 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | HP:0040283 - Occasional | | | 14 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | . | | | 34 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:616779 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | . | | | 34 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:3318 | Essential thrombocythemia | | | | 57 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:71493 | Familial thrombocytosis | | | | 57 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | HP:0040283 - Occasional | | | 57 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:614521 | Thrombocythemia 3 | | | | 57 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | KIF20A CL E G H | 10112 | 9787 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040284 - Very rare | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | | | | 196 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | LIG3 CL E G H | 3980 | 6600 | OMIM:619780 | MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20 | | | | 1 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | LOX CL E G H | 4015 | 6664 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 6 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | | | | 191 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MAT2A CL E G H | 4144 | 6904 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 13 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3077 | X-linked intellectual disability-psychosis-macroorchidism syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MFAP5 CL E G H | 8076 | 29673 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 11 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040284 - Very rare | | | 101 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | HP:0040283 - Occasional | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:3318 | Essential thrombocythemia | | | | 97 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:71493 | Familial thrombocytosis | | | | 97 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | HP:0040283 - Occasional | | | 97 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MTHFR CL E G H | 4524 | 7436 | OMIM:236250 | Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity | . | | | 183 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | HP:0040284 - Very rare | | | 183 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | . | | | 1143 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:132900 | Aortic aneurysm, familial thoracic 4 | | | | 418 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:229 | Familial aortic dissection | HP:0040283 - Occasional | | | 418 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 418 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MYH6 CL E G H | 4624 | 7576 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 452 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 326 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040284 - Very rare | | | 217 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040284 - Very rare | | | 36 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 90 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | NOS3 CL E G H | 4846 | 7876 | OMIM:601367 | STROKE, ISCHEMIC | | | | 8 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | . | | | 144 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | HP:0040282 - Frequent | | | 144 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | NPPA CL E G H | 4878 | 7939 | ORPHA:1344 | Atrial standstill | | | | 13 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | NPPA CL E G H | 4878 | 7939 | OMIM:615745 | Atrial standstill 2 | | | | 13 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:786 | Generalized glucocorticoid resistance syndrome | HP:0040284 - Very rare | | | 79 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | HP:0040283 - Occasional | | | 369 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | HP:0040283 - Occasional | | | 531 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040283 - Occasional | | | 46 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040282 - Frequent | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | PLIN1 CL E G H | 5346 | 9076 | OMIM:613877 | Lipodystrophy, familial partial, type 4 | | | | 19 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | HP:0040284 - Very rare | | | 52 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | PRKCH CL E G H | 5583 | 9403 | OMIM:601367 | STROKE, ISCHEMIC | | | | 1 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | PRKG1 CL E G H | 5592 | 9414 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 41 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | | | | 69 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | RFT1 CL E G H | 91869 | 30220 | ORPHA:244310 | RFT1-CDG | | | | 92 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | RNF213 CL E G H | 57674 | 14539 | OMIM:607151 | MOYAMOYA DISEASE 2; MYMY2 | | | | 14 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:614022 | Atrial fibrillation, familial, 10 | | | | 1134 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:1344 | Atrial standstill | | | | 1134 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:601154 | Cardiomyopathy, dilated, 1E | . | | | 1134 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SH2B3 CL E G H | 10019 | 29605 | ORPHA:3318 | Essential thrombocythemia | | | | 4 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SLC19A2 CL E G H | 10560 | 10938 | OMIM:249270 | Thiamine-Responsive megaloblastic anemia syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SLC19A2 CL E G H | 10560 | 10938 | ORPHA:49827 | Thiamine-responsive megaloblastic anemia syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | | | | 178 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SMAD2 CL E G H | 4087 | 6768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 7 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 260 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 504 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 504 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:175050 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | | | | 504 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | HP:0040283 - Occasional | | | 94 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SNORD118 CL E G H | 727676 | 32952 | ORPHA:542310 | Leukoencephalopathy with calcifications and cysts | | | | 6 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | | | | 12 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | | | | 31 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TBX20 CL E G H | 57057 | 11598 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 20 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:3318 | Essential thrombocythemia | | | | 3 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | HP:0040283 - Occasional | | | 3 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TGFB2 CL E G H | 7042 | 11768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 162 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TGFB3 CL E G H | 7043 | 11769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 85 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 239 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 253 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TGFBR3 CL E G H | 7049 | 11774 | ORPHA:231160 | Familial cerebral saccular aneurysm | | | | 1 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | THPO CL E G H | 7066 | 11795 | ORPHA:71493 | Familial thrombocytosis | | | | 23 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | THSD1 CL E G H | 55901 | 17754 | ORPHA:231160 | Familial cerebral saccular aneurysm | | | | 2 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 6 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040284 - Very rare | | | 180 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040284 - Very rare | | | 248 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TNXB CL E G H | 7148 | 11976 | ORPHA:230839 | Classical-like Ehlers-Danlos syndrome type 1 | HP:0040283 - Occasional | | | 134 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:3318 | Essential thrombocythemia | | | | 911 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | . | | | 56 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | | | | 107 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | TTR CL E G H | 7276 | 12405 | ORPHA:85451 | ATTRV122I amyloidosis | | | | 107 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | VHL CL E G H | 7428 | 12687 | OMIM:263400 | Erythrocytosis, familial, 2 | . | | | 490 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 490 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001297 | HP:0001297 | Stroke | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:222300 | Wolfram syndrome 1 | | | | 389 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 14 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 5 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0001297 | HP:0001297 | Stroke | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0001297 | HP:0033762 | Middle cerebral artery stroke | 1 | CL E G H | | | | | | | | | | |
HP:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | HP:0002326 | Transient ischemic attack | 1 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040283 - Occasional | | | 72 | | |
HP:0001297 | 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:0001297 | HP:0002326 | Transient ischemic attack | 1 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040283 - Occasional | | | 123 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 178 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0001297 | HP:0002140 | Ischemic stroke | 1 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0001297 | HP:0002140 | Ischemic stroke | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | | | | 129 | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | ANGPTL6 CL E G H | 83854 | 23140 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040282 - Frequent | | | | | |
HP:0001297 | 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:0001297 | HP:0002326 | Transient ischemic attack | 1 | CALR CL E G H | 811 | 1455 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0001297 | 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:0001297 | HP:0002326 | Transient ischemic attack | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040282 - Frequent | | | 749 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0001297 | 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:0001297 | HP:0002401 | Stroke-like episode | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040284 - Very rare | | | 38 | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | DPM3 CL E G H | 54344 | 3007 | ORPHA:263494 | DPM3-CDG | HP:0040282 - Frequent | | | 9 | | |
HP:0001297 | 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:0001297 | 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:0001297 | HP:0002326 | Transient ischemic attack | 1 | ENG CL E G H | 2022 | 3349 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040282 - Frequent | | | 186 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 186 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |
HP:0001297 | HP:0002140 | Ischemic stroke | 1 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |
HP:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | HP:0002326 | Transient ischemic attack | 1 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 8 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040281 - Very frequent | | | 291 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | . | | | 291 | | |
HP:0001297 | HP:0002140 | Ischemic stroke | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001297 | HP:0002140 | Ischemic stroke | 1 | GUCY1A1 CL E G H | 2982 | 4685 | OMIM:615750 | Moyamoya disease 6 with achalasia | HP:0040283 - Occasional | | | | | |
HP:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | HP:0002401 | Stroke-like episode | 1 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 57 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 57 | | |
HP:0001297 | HP:0002140 | Ischemic stroke | 1 | JAK2 CL E G H | 3717 | 6192 | OMIM:614521 | Thrombocythemia 3 | | | | 57 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | . | | | 196 | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | LIG3 CL E G H | 3980 | 6600 | OMIM:619780 | MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20 | | | | 1 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0001297 | 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:0001297 | 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:0001297 | HP:0002401 | Stroke-like episode | 1 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | HP:0040281 - Very frequent | | | 191 | | |
HP:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | HP:0002326 | Transient ischemic attack | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 97 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 97 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | . | | | 1143 | | |
HP:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | HP:0002401 | Stroke-like episode | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0001297 | 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:0001297 | HP:0002140 | Ischemic stroke | 1 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | | | | 144 | | |
HP:0001297 | 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:0001297 | 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:0001297 | HP:0002140 | Ischemic stroke | 1 | NPPA CL E G H | 4878 | 7939 | ORPHA:1344 | Atrial standstill | HP:0040283 - Occasional | | | 13 | | |
HP:0001297 | HP:0002140 | Ischemic stroke | 1 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0001297 | 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:0001297 | 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:0001297 | HP:0002401 | Stroke-like episode | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | RFT1 CL E G H | 91869 | 30220 | ORPHA:244310 | RFT1-CDG | HP:0040283 - Occasional | | | 92 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | RNF213 CL E G H | 57674 | 14539 | OMIM:607151 | MOYAMOYA DISEASE 2; MYMY2 | | | | 14 | | |
HP:0001297 | HP:0002140 | Ischemic stroke | 1 | SCN5A CL E G H | 6331 | 10593 | ORPHA:1344 | Atrial standstill | HP:0040283 - Occasional | | | 1134 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | SH2B3 CL E G H | 10019 | 29605 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 4 | | |
HP:0001297 | HP:0002140 | Ischemic stroke | 1 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | . | | | 178 | | |
HP:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | HP:0002326 | Transient ischemic attack | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 504 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0001297 | HP:0002140 | Ischemic stroke | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040283 - Occasional | | | 74 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040283 - Occasional | | | 74 | | |
HP:0001297 | 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:0001297 | 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:0001297 | HP:0002401 | Stroke-like episode | 1 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0001297 | 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:0001297 | HP:0002326 | Transient ischemic attack | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | 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:0001297 | HP:0002326 | Transient ischemic attack | 1 | TGFBR3 CL E G H | 7049 | 11774 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040282 - Frequent | | | 1 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | THPO CL E G H | 7066 | 11795 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 23 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | THSD1 CL E G H | 55901 | 17754 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040282 - Frequent | | | 2 | | |
HP:0001297 | 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:0001297 | HP:0002326 | Transient ischemic attack | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 911 | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | . | | | 107 | | |
HP:0001297 | HP:0002401 | Stroke-like episode | 1 | WFS1 CL E G H | 7466 | 12762 | OMIM:222300 | Wolfram syndrome 1 | . | | | 389 | | |
HP:0001297 | HP:0002326 | Transient ischemic attack | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0001297 | 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:0001297 | 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:0001297 | HP:0032325 | Lacunar stroke | 2 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | | | | 144 | | |
HP:0001297 | 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:0001297 | HP:0032325 | Lacunar stroke | 2 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | | | | | | |
HP:0001297 | HP:0032570 | Pontine ischemic lacunes | 3 | CL E G H | | | | | | | | | | |