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:0001003 | HP:0001003 | Multiple lentigines | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040281 - Very frequent | | | 276 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | DSTYK CL E G H | 25778 | 29043 | ORPHA:101003 | Autosomal recessive spastic paraplegia type 23 | HP:0040282 - Frequent | | | 13 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | DSTYK CL E G H | 25778 | 29043 | OMIM:270750 | Spastic paraplegia 23 | | | | 13 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | KITLG CL E G H | 4254 | 6343 | OMIM:145250 | Hyperpigmentation, familial progressive | | | | 9 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | . | | | 178 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | | | | 102 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | HP:0040281 - Very frequent | | | 13 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | HP:0040281 - Very frequent | | | 134 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:160980 | Carney complex, type 1 | | | | 134 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | . | | | 291 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040281 - Very frequent | | | 291 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040281 - Very frequent | | | 212 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0001003 | HP:0001003 | Multiple lentigines | 0 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | HP:0040281 - Very frequent | | | 740 | | |