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:0001634 | HP:0001634 | Mitral valve prolapse | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 415 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:177850 | Pseudoxanthoma elasticum, forme fruste | . | | | 415 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 415 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040282 - Frequent | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | . | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 93 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | ATP6V1E1 CL E G H | 529 | 857 | OMIM:617402 | Cutis laxa, autosomal recessive, type IIC | . | | | 2 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 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:0001634 | HP:0001634 | Mitral valve prolapse | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | . | | | 101 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 5 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040282 - Frequent | | | 276 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | . | | | 242 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | | | | 27 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 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:0001634 | HP:0001634 | Mitral valve prolapse | 0 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040284 - Very rare | | | 373 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166200 | Osteogenesis imperfecta, type I | . | | | 373 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 243 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:225320 | Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | . | | | 243 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:90653 | Stickler syndrome type 1 | HP:0040282 - Frequent | | | 284 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | . | | | 284 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 749 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040284 - Very rare | | | 660 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:130000 | Ehlers-danlos syndrome, type I | . | | | 660 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040284 - Very rare | | | 325 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:607829 | Mitral valve prolapse, myxomatous 2 | . | | | 27 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | DSE CL E G H | 29940 | 21144 | OMIM:615539 | Ehlers-Danlos syndrome, musculocontractural type, 2 | . | | | 13 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | DZIP1 CL E G H | 22873 | 20908 | OMIM:610840 | MITRAL VALVE PROLAPSE 3; MVP3 | | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 151 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:614185 | GELEOPHYSIC DYSPLASIA 2; GPHYSD2 | | | | 1361 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:604308 | MASS SYNDROME | | | | 1361 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040282 - Frequent | | | 1361 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FBN2 CL E G H | 2201 | 3604 | ORPHA:115 | Congenital contractural arachnodactyly | HP:0040283 - Occasional | | | 655 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | . | | | 655 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FIBP CL E G H | 9158 | 3705 | OMIM:617107 | Thauvin-Robinet-Faivre syndrome | . | | | 2 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:314400 | Cardiac valvular dysplasia, X-linked | . | | | 493 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:555877 | FLNA-related X-linked myxomatous valvular dysplasia | | | | 493 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | . | | | 493 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FMN2 CL E G H | 56776 | 14074 | OMIM:616193 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47 | | | | 44 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | . | | | 30 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:908 | Fragile X syndrome | HP:0040283 - Occasional | | | 30 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040284 - Very rare | | | 30 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 6 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | HCN4 CL E G H | 10021 | 16882 | OMIM:163800 | Sick sinus syndrome 2 | HP:0040283 - Occasional | | | 185 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 148 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:615278 | Cardiofaciocutaneous syndrome 2 | | | | 196 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | | | | 196 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:601216 | Dental anomalies and short stature | . | | | 12 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:3238 | Cardiospondylocarpofacial syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | HP:0040283 - Occasional | | | 228 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | MFAP5 CL E G H | 8076 | 29673 | OMIM:616166 | AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9 | | | | 11 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 2 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | | | | 64 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 64 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040283 - Occasional | | | 1269 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040284 - Very rare | | | 1952 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | NPR3 CL E G H | 4883 | 7945 | OMIM:619543 | BOUDIN-MORTIER SYNDROME; BOMOS | | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 342 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | PKD1 CL E G H | 5310 | 9008 | OMIM:173900 | Polycystic kidneys | | | | 342 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 106 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | PLD1 CL E G H | 5337 | 9067 | OMIM:212093 | Cardiac valvular defect, developmental | . | | | 4 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040283 - Occasional | | | 105 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | PRDM5 CL E G H | 11107 | 9349 | ORPHA:90354 | Brittle cornea syndrome | HP:0040283 - Occasional | | | 58 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | PRG4 CL E G H | 10216 | 9364 | ORPHA:2848 | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome | | | | 6 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040282 - Frequent | | | 291 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040282 - Frequent | | | 212 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | RPL5 CL E G H | 6125 | 10360 | OMIM:612561 | Diamond-Blackfan anemia 6 | . | | | 40 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | HP:0040282 - Frequent | | | 1200 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | HP:0040282 - Frequent | | | 309 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | SLC6A6 CL E G H | 6533 | 11052 | OMIM:145350 | Hypotaurinemic retinal degeneration and cardiomyopathy | . | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:175050 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | HP:0040283 - Occasional | | | 504 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | SPRED1 CL E G H | 161742 | 20249 | ORPHA:137605 | Legius syndrome | | | | 136 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | TAB2 CL E G H | 23118 | 17075 | OMIM:614980 | Congenital heart defects, multiple types, 2 | | | | 11 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | TAB2 CL E G H | 23118 | 17075 | ORPHA:228410 | Polyvalvular heart disease syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | | | | 253 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | TNXB CL E G H | 7148 | 11976 | ORPHA:230839 | Classical-like Ehlers-Danlos syndrome type 1 | HP:0040283 - Occasional | | | 134 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | TNXB CL E G H | 7148 | 11976 | OMIM:606408 | Ehlers-Danlos syndrome, classic-like | . | | | 134 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040283 - Occasional | | | 7128 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | . | | | 546 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040283 - Occasional | | | 546 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | VWF CL E G H | 7450 | 12726 | OMIM:193400 | Von willebrand disease, type 1 | . | | | 533 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 14 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 5 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:605822 | Spondyloocular syndrome | . | | | 5 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | ZNF469 CL E G H | 84627 | 23216 | OMIM:229200 | Brittle cornea syndrome | . | | | 397 | | |
HP:0001634 | HP:0001634 | Mitral valve prolapse | 0 | ZNF469 CL E G H | 84627 | 23216 | ORPHA:90354 | Brittle cornea syndrome | HP:0040283 - Occasional | | | 397 | | |
HP:0001634 | HP:0004764 | Myxomatous mitral valve degeneration | 1 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0001634 | HP:0004764 | Myxomatous mitral valve degeneration | 1 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0001634 | HP:0004764 | Myxomatous mitral valve degeneration | 1 | TAB2 CL E G H | 23118 | 17075 | OMIM:614980 | Congenital heart defects, multiple types, 2 | . | | | 11 | | |