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:0002619 | HP:0002619 | Varicose veins | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040283 - Occasional | | | | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:618343 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | . | | | 749 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 749 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | EPHB4 CL E G H | 2050 | 3395 | OMIM:617300 | Lymphatic malformation 7 | . | | | 3 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:90186 | Meige disease | HP:0040283 - Occasional | | | 3 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | FIBP CL E G H | 9158 | 3705 | OMIM:617107 | Thauvin-Robinet-Faivre syndrome | . | | | 2 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | FLT4 CL E G H | 2324 | 3767 | ORPHA:79452 | Milroy disease | HP:0040282 - Frequent | | | 90 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | FOXC2 CL E G H | 2303 | 3801 | ORPHA:33001 | Lymphedema-distichiasis syndrome | HP:0040282 - Frequent | | | 20 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | . | | | 20 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040284 - Very rare | | | | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | GJC2 CL E G H | 57165 | 17494 | ORPHA:79452 | Milroy disease | HP:0040282 - Frequent | | | 37 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | HP:0040283 - Occasional | | | 93 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | . | | | 144 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:616843 | Lymphedema, hereditary, III | . | | | 36 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:613089 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | . | | | 162 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619656 | LOEYS-DIETZ SYNDROME 6; LDS6 | | | | 7 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0002619 | HP:0002619 | Varicose veins | 0 | VHL CL E G H | 7428 | 12687 | OMIM:263400 | Erythrocytosis, familial, 2 | . | | | 490 | | |
HP:0002619 | HP:0100677 | Vulval varicose vein | 1 | CL E G H | | | | | | | | | | |
HP:0002619 | HP:0002626 | Venous varicosities of celiac and mesenteric vessels | 1 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |