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:0001650 | HP:0001650 | Aortic valve stenosis | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | . | | | 72 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | ADAMTS10 CL E G H | 81794 | 13201 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | | | | 63 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | . | | | 72 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | ANKS6 CL E G H | 203286 | 26724 | OMIM:615382 | Nephronophthisis 16 | HP:0040283 - Occasional | | | 32 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | ARSK CL E G H | 153642 | 25239 | OMIM:619698 | MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10 | | | | | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | . | | | 101 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040284 - Very rare | | | 291 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040284 - Very rare | | | 291 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | CYP24A1 CL E G H | 1591 | 2602 | OMIM:143880 | Hypercalcemia, infantile, 1 | . | | | 73 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040284 - Very rare | | | 134 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040284 - Very rare | | | 134 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | EBP CL E G H | 10682 | 3133 | OMIM:300960 | Mend syndrome | . | | | 51 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040283 - Occasional | | | 223 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040284 - Very rare | | | 250 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:614185 | GELEOPHYSIC DYSPLASIA 2; GPHYSD2 | | | | 1361 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | . | | | 1361 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040283 - Occasional | | | 172 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | FOXF1 CL E G H | 2294 | 3809 | ORPHA:210122 | Congenital alveolar capillary dysplasia | HP:0040283 - Occasional | | | 61 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | GATA5 CL E G H | 140628 | 15802 | OMIM:617912 | Congenital heart defects, multiple types, 5 | . | | | 10 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | GATA5 CL E G H | 140628 | 15802 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040281 - Very frequent | | | 10 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230800 | Gaucher disease, type I | | | | | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:241550 | HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1 | | | | 68 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | . | | | 120 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | GNPTG CL E G H | 84572 | 23026 | OMIM:252605 | Mucolipidosis III gamma | . | | | 57 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | . | | | 2 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607016 | Scheie syndrome | . | | | 115 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | . | | | 28 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040283 - Occasional | | | 196 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | LTBP2 CL E G H | 4053 | 6715 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040283 - Occasional | | | 123 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:614819 | Weill-Marchesani syndrome 3 | . | | | 123 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | NEK8 CL E G H | 284086 | 13387 | OMIM:615415 | Renal-Hepatic-Pancreatic dysplasia 2 | . | | | 43 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040281 - Very frequent | | | 90 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:109730 | Aortic valve disease 1 | . | | | 452 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040281 - Very frequent | | | 452 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | . | | | 157 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | NR2F2 CL E G H | 7026 | 7976 | OMIM:615779 | Congenital heart defects, multiple types, 4 | . | | | 13 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | RIGI CL E G H | 23586 | 19102 | OMIM:616298 | Singleton-Merten syndrome 2 | HP:0040283 - Occasional | | | | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:607095 | Anauxetic dysplasia | | | | 37 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | ROBO4 CL E G H | 54538 | 17985 | OMIM:618496 | Aortic valve disease 3 | . | | | | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | SCN1B CL E G H | 6324 | 10586 | OMIM:615377 | Atrial fibrillation, familial, 13 | HP:0040283 - Occasional | | | 126 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | . | | | 178 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | . | | | 504 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | SMAD6 CL E G H | 4091 | 6772 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040281 - Very frequent | | | 33 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | SNIP1 CL E G H | 79753 | 30587 | OMIM:614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | . | | | 3 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | TAB2 CL E G H | 23118 | 17075 | OMIM:614980 | Congenital heart defects, multiple types, 2 | . | | | 11 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | TAB2 CL E G H | 23118 | 17075 | ORPHA:228410 | Polyvalvular heart disease syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | TAF2 CL E G H | 6873 | 11536 | OMIM:615599 | Mental retardation, autosomal recessive 40 | | | | 7 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | TTR CL E G H | 7276 | 12405 | ORPHA:85451 | ATTRV122I amyloidosis | | | | 107 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:123100 | Craniosynostosis 1 | | | | 18 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | VWF CL E G H | 7450 | 12726 | OMIM:193400 | Von willebrand disease, type 1 | . | | | 533 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | . | | | 83 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | HP:0040283 - Occasional | | | 177 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |
HP:0001650 | HP:0001650 | Aortic valve stenosis | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 83 | | |