Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0008081 | HP:0008081 | Pes valgus | 0 | ANO1 CL E G H | 55107 | 21625 | OMIM:620045 | | | | | | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040283 - Occasional | | | 105 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | CAPN1 CL E G H | 823 | 1476 | ORPHA:488594 | Autosomal recessive spastic paraplegia type 76 | HP:0040283 - Occasional | | | 4 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 65 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 442 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 478 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 702 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | COL9A3 CL E G H | 1299 | 2219 | OMIM:620022 | | | | | 137 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 493 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 139 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | GARS1 CL E G H | 2617 | 4162 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040283 - Occasional | | | | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:200700 | Chondrodysplasia, Grebe type | . | | | 52 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | HP:0040283 - Occasional | | | 11 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | KDELR2 CL E G H | 11014 | 6305 | OMIM:619131 | OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21 | | | | | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 11 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | MYMX CL E G H | 101929726 | 52391 | OMIM:619941 | | | | | | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 225 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040283 - Occasional | | | 87 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | RFT1 CL E G H | 91869 | 30220 | OMIM:612015 | Congenital disorder of glycosylation, type IN | . | | | 92 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 1053 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 126 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 427 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 318 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040283 - Occasional | | | 493 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040281 - Very frequent | | | 241 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | . | | | 241 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | TRIP4 CL E G H | 9325 | 12310 | ORPHA:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040283 - Occasional | | | 20 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | . | | | 95 | | |
HP:0008081 | HP:0008081 | Pes valgus | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | . | | | 95 | | |