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:0001863 | HP:0001863 | Toe clinodactyly | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | | | | 37 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | ATP2B1 CL E G H | 490 | 814 | OMIM:619910 | | | | | | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | | | | 7 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | DLEC1 CL E G H | 9940 | 2899 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | | | | | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300244 | Terminal osseous dysplasia | . | | | 493 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | | | | 193 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | | | | 193 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | | | | 128 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | PIGH CL E G H | 5283 | 8964 | OMIM:618010 | Glycosylphosphatidylinositol biosynthesis defect 17 | | | | 1 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | | | | 135 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | RNF6 CL E G H | 6049 | 10069 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | | | | 3 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040282 - Frequent | | | 124 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | | | | 253 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | | | | 149 | | |
HP:0001863 | HP:0001863 | Toe clinodactyly | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0001863 | HP:0040018 | Clinodactyly of hallux | 1 | CL E G H | | | | | | | | | | |
HP:0001863 | HP:0001864 | Clinodactyly of the 5th toe | 1 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0001863 | HP:0001864 | Clinodactyly of the 5th toe | 1 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0001863 | HP:0011918 | Clinodactyly of the 4th toe | 1 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0001863 | HP:0008115 | Clinodactyly of the 3rd toe | 1 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0001863 | HP:0001864 | Clinodactyly of the 5th toe | 1 | DLEC1 CL E G H | 9940 | 2899 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040281 - Very frequent | | | | | |
HP:0001863 | HP:0011918 | Clinodactyly of the 4th toe | 1 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0001863 | HP:0001864 | Clinodactyly of the 5th toe | 1 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0001863 | HP:0005824 | Clinodactyly of the 2nd toe | 1 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0001863 | HP:0001864 | Clinodactyly of the 5th toe | 1 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0001863 | HP:0001864 | Clinodactyly of the 5th toe | 1 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 193 | | |
HP:0001863 | HP:0001864 | Clinodactyly of the 5th toe | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 128 | | |
HP:0001863 | HP:0011918 | Clinodactyly of the 4th toe | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0001863 | HP:0001864 | Clinodactyly of the 5th toe | 1 | PIGH CL E G H | 5283 | 8964 | OMIM:618010 | Glycosylphosphatidylinositol biosynthesis defect 17 | | | | 1 | | |
HP:0001863 | HP:0001864 | Clinodactyly of the 5th toe | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | | | | 135 | | |
HP:0001863 | HP:0011918 | Clinodactyly of the 4th toe | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | | | | 135 | | |
HP:0001863 | HP:0001864 | Clinodactyly of the 5th toe | 1 | RNF6 CL E G H | 6049 | 10069 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040281 - Very frequent | | | 3 | | |
HP:0001863 | HP:0001864 | Clinodactyly of the 5th toe | 1 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0001863 | HP:0001864 | Clinodactyly of the 5th toe | 1 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040281 - Very frequent | | | 253 | | |
HP:0001863 | HP:0001864 | Clinodactyly of the 5th toe | 1 | WWOX CL E G H | 51741 | 12799 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040281 - Very frequent | | | 149 | | |