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:0007605 | HP:0007605 | Excessive wrinkling of palmar skin | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | | | | 140 | | |
HP:0007605 | HP:0007605 | Excessive wrinkling of palmar skin | 0 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | | | | 15 | | |
HP:0007605 | HP:0007605 | Excessive wrinkling of palmar skin | 0 | CSTA CL E G H | 1475 | 2481 | ORPHA:263534 | Acral peeling skin syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0007605 | HP:0007605 | Excessive wrinkling of palmar skin | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | | | | 175 | | |
HP:0007605 | HP:0007605 | Excessive wrinkling of palmar skin | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0007605 | HP:0007605 | Excessive wrinkling of palmar skin | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0007605 | HP:0007605 | Excessive wrinkling of palmar skin | 0 | MRAS CL E G H | 22808 | 7227 | OMIM:618499 | NOONAN SYNDROME 11; NS11 | | | | | | |
HP:0007605 | HP:0007605 | Excessive wrinkling of palmar skin | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | | | | 105 | | |
HP:0007605 | HP:0007605 | Excessive wrinkling of palmar skin | 0 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0007605 | HP:0007605 | Excessive wrinkling of palmar skin | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0007605 | HP:0007605 | Excessive wrinkling of palmar skin | 0 | TGM5 CL E G H | 9333 | 11781 | ORPHA:263534 | Acral peeling skin syndrome | HP:0040283 - Occasional | | | 44 | | |
HP:0007605 | HP:0007605 | Excessive wrinkling of palmar skin | 0 | ZNF469 CL E G H | 84627 | 23216 | OMIM:229200 | Brittle cornea syndrome | | | | 397 | | |
HP:0007605 | HP:0007517 | Palmoplantar cutis laxa | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | . | | | 140 | | |
HP:0007605 | HP:0007517 | Palmoplantar cutis laxa | 1 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | . | | | 15 | | |
HP:0007605 | HP:0007517 | Palmoplantar cutis laxa | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | . | | | 175 | | |
HP:0007605 | HP:0007517 | Palmoplantar cutis laxa | 1 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0007605 | HP:0007517 | Palmoplantar cutis laxa | 1 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0007605 | HP:0007517 | Palmoplantar cutis laxa | 1 | MRAS CL E G H | 22808 | 7227 | OMIM:618499 | NOONAN SYNDROME 11; NS11 | | | | | | |
HP:0007605 | HP:0007517 | Palmoplantar cutis laxa | 1 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | . | | | 105 | | |
HP:0007605 | HP:0007517 | Palmoplantar cutis laxa | 1 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0007605 | HP:0007517 | Palmoplantar cutis laxa | 1 | ZNF469 CL E G H | 84627 | 23216 | OMIM:229200 | Brittle cornea syndrome | . | | | 397 | | |