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:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | ACTA2 CL E G H | 59 | 130 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 94 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | . | | | 72 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | ADAMTS19 CL E G H | 171019 | 17111 | OMIM:620067 | | | | | 1 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | AGO2 CL E G H | 27161 | 3263 | OMIM:619149 | LESSEL-KREIENKAMP SYNDROME; LESKRES | | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 5 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | BBS2 CL E G H | 583 | 967 | OMIM:615981 | Bardet-Biedl syndrome 2 | HP:0040283 - Occasional | | | 97 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | CAPN15 CL E G H | 6650 | 11182 | OMIM:619318 | OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN | | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | . | | | 7 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 165 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040284 - Very rare | | | 291 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040284 - Very rare | | | 291 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | DOHH CL E G H | 83475 | 28662 | OMIM:620066 | | | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | HP:0040283 - Occasional | | | 3 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 172 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | . | | | 172 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040284 - Very rare | | | 250 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 1361 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:184900 | STIFF SKIN SYNDROME; SSKS | | | | 1361 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | . | | | 655 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:314400 | Cardiac valvular dysplasia, X-linked | HP:0040284 - Very rare | | | 493 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:555877 | FLNA-related X-linked myxomatous valvular dysplasia | | | | 493 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300049 | Heterotopia, periventricular, X-linked dominant | . | | | 493 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 23 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | FOXF1 CL E G H | 2294 | 3809 | ORPHA:210122 | Congenital alveolar capillary dysplasia | HP:0040283 - Occasional | | | 61 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | GATA5 CL E G H | 140628 | 15802 | OMIM:617912 | Congenital heart defects, multiple types, 5 | . | | | 10 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | GATA5 CL E G H | 140628 | 15802 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040280 - Obligate | | | 10 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:614475 | Atrial septal defect 9 | | | | 37 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | . | | | 39 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | . | | | 34 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | HEY2 CL E G H | 23493 | 4881 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | LOX CL E G H | 4015 | 6664 | OMIM:617168 | Aortic aneurysm, familial thoracic 10 | HP:0040283 - Occasional | | | 6 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | LOX CL E G H | 4015 | 6664 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 6 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | . | | | 11 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | MAT2A CL E G H | 4144 | 6904 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 13 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040282 - Frequent | | | 3 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | MFAP5 CL E G H | 8076 | 29673 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 11 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | . | | | 1 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 2 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 64 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:132900 | Aortic aneurysm, familial thoracic 4 | . | | | 418 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 418 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:613426 | Cardiomyopathy, dilated, 1S | HP:0040283 - Occasional | | | 1269 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 326 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | MYOCD CL E G H | 93649 | 16067 | OMIM:618719 | MEGABLADDER, CONGENITAL; MGBL | | | | 3 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | NADSYN1 CL E G H | 55191 | 29832 | OMIM:618845 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 | | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040280 - Obligate | | | 90 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:109730 | Aortic valve disease 1 | . | | | 452 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040280 - Obligate | | | 452 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:130720 | Lateral meningocele syndrome | HP:0040283 - Occasional | | | 144 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | NXN CL E G H | 64359 | 18008 | OMIM:618529 | Robinow syndrome, autosomal recessive 2 | . | | | 2 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | . | | | 24 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | PPM1D CL E G H | 8493 | 9277 | OMIM:617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | | | | 22 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | PRKG1 CL E G H | 5592 | 9414 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 41 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | HP:0040283 - Occasional | | | 3 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | ROBO4 CL E G H | 54538 | 17985 | OMIM:618496 | Aortic valve disease 3 | . | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | RPL26 CL E G H | 6154 | 10327 | OMIM:614900 | Diamond-Blackfan anemia 11 | . | | | 3 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | SGO1 CL E G H | 151648 | 25088 | OMIM:616201 | Chronic atrial and intestinal dysrhythmia | HP:0040283 - Occasional | | | 2 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | SMAD2 CL E G H | 4087 | 6768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 7 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 260 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 504 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | SMAD6 CL E G H | 4091 | 6772 | OMIM:614823 | Aortic valve disease 2 | . | | | 33 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | SMAD6 CL E G H | 4091 | 6772 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040280 - Obligate | | | 33 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | SNIP1 CL E G H | 79753 | 30587 | OMIM:614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | . | | | 3 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | TAB2 CL E G H | 23118 | 17075 | OMIM:614980 | Congenital heart defects, multiple types, 2 | . | | | 11 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | TAF2 CL E G H | 6873 | 11536 | OMIM:615599 | Mental retardation, autosomal recessive 40 | HP:0040283 - Occasional | | | 7 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | TAF2 CL E G H | 6873 | 11536 | ORPHA:397951 | Microcephaly-thin corpus callosum-intellectual disability syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | TGFB2 CL E G H | 7042 | 11768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 162 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | TGFB3 CL E G H | 7043 | 11769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 85 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 239 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 253 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | | | | 253 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | THSD4 CL E G H | 79875 | 25835 | OMIM:619825 | AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12 | | | | 2 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040283 - Occasional | | | 20 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | YY1AP1 CL E G H | 55249 | 30935 | OMIM:602531 | Grange syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |
HP:0001647 | HP:0001647 | Bicuspid aortic valve | 0 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0001647 | HP:0031117 | Purely bicuspid aortic valve | 1 | CL E G H | | | | | | | | | | |
HP:0001647 | HP:0031122 | Two-raphe bicuspid aortic valve | 1 | CL E G H | | | | | | | | | | |
HP:0001647 | HP:0031118 | Single raphe bicuspid aortic valve | 1 | CL E G H | | | | | | | | | | |
HP:0001647 | HP:0031121 | Bicuspid aortic valve with left-noncoronary cusp fusion | 2 | CL E G H | | | | | | | | | | |
HP:0001647 | HP:0031120 | Bicuspid aortic valve with right-noncoronary cusp fusion | 2 | CL E G H | | | | | | | | | | |
HP:0001647 | HP:0031119 | Bicuspid aortic valve with right-left cusp fusion | 2 | CL E G H | | | | | | | | | | |