Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 680 | 1097 | 164757 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 618 | 1097 | 164757 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | COL7A1 CL E G H | 1294 | 79410 | | | | ORPHA | 1 | | 2028 | 2214 | 120120 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | COL7A1 CL E G H | 1294 | 79410 | | | | ORPHA | 1 | | 1658 | 2214 | 120120 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | GJA1 CL E G H | 2697 | 104100 | Alopecia congenita keratosis palmoplantaris | 104100 | C1863093 | OMIM | 1 | | 191 | 4274 | 121014 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | GJA1 CL E G H | 2697 | 104100 | Alopecia congenita keratosis palmoplantaris | 104100 | C1863093 | OMIM | 1 | | 169 | 4274 | 121014 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | GJB2 CL E G H | 2706 | 477 | | | | ORPHA | 1 | | 460 | 4284 | 121011 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | GJB2 CL E G H | 2706 | 477 | | | | ORPHA | 1 | | 482 | 4284 | 121011 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | GJB6 CL E G H | 10804 | 477 | | | | ORPHA | 1 | | 223 | 4288 | 604418 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | GJB6 CL E G H | 10804 | 477 | | | | ORPHA | 1 | | 214 | 4288 | 604418 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | KIF1A CL E G H | 547 | 970 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | KIF1A CL E G H | 547 | 970 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 331 | 6407 | 190070 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 341 | 6407 | 190070 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | KRT14 CL E G H | 3861 | 69087 | | | | ORPHA | 1 | | 148 | 6416 | 148066 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | KRT14 CL E G H | 3861 | 69087 | | | | ORPHA | 1 | | 155 | 6416 | 148066 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | KRT74 CL E G H | 121391 | 614929 | Ectodermal dysplasia 7, hair/nail type | 614929 | C3554117 | OMIM | 1 | | 85 | 28929 | 608248 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 336 | 6840 | 176872 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 306 | 6840 | 176872 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 452 | 6842 | 601263 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 515 | 6842 | 601263 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | MBTPS2 CL E G H | 51360 | 308800 | Keratosis pilaris decalvans | 308800 | C0343057 | OMIM | 1 | | 242 | 15455 | 300294 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | MBTPS2 CL E G H | 51360 | 308800 | Keratosis pilaris decalvans | 308800 | C0343057 | OMIM | 1 | | 231 | 15455 | 300294 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | NECTIN1 CL E G H | 5818 | 3253 | Limb dystonia | | | ORPHA | 1 | | 207 | 9706 | 600644 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | NECTIN1 CL E G H | 5818 | 3253 | Limb dystonia | | | ORPHA | 1 | | 199 | 9706 | 600644 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | RETREG1 CL E G H | 54463 | 970 | | | | ORPHA | 1 | | 416 | 25964 | 613114 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | RETREG1 CL E G H | 54463 | 970 | | | | ORPHA | 1 | | 368 | 25964 | 613114 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | SCN9A CL E G H | 6335 | 970 | | | | ORPHA | 1 | | 1438 | 10597 | 603415 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | SCN9A CL E G H | 6335 | 970 | | | | ORPHA | 1 | | 1708 | 10597 | 603415 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | STAT3 CL E G H | 6774 | 2314 | | | | ORPHA | 1 | | 399 | 11364 | 102582 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | STAT3 CL E G H | 6774 | 2314 | | | | ORPHA | 1 | | 439 | 11364 | 102582 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | TP63 CL E G H | 8626 | 1071 | | | | ORPHA | 1 | | 376 | 15979 | 603273 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | TP63 CL E G H | 8626 | 1071 | | | | ORPHA | 1 | | 444 | 15979 | 603273 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | WNK1 CL E G H | 65125 | 970 | | | | ORPHA | 1 | | 1258 | 14540 | 605232 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | WNK1 CL E G H | 65125 | 970 | | | | ORPHA | 1 | | 1096 | 14540 | 605232 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | WNT10A CL E G H | 80326 | 257980 | Odontoonychodermal dysplasia | 257980 | C0796093 | OMIM | 1 | | 309 | 13829 | 606268 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | WNT10A CL E G H | 80326 | 257980 | Odontoonychodermal dysplasia | 257980 | C0796093 | OMIM | 1 | | 291 | 13829 | 606268 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | RUNX2 CL E G H | 860 | 1452 | | | | ORPHA | 0 | | 333 | 10472 | 600211 |
HP:0008391 | HP:0008391 | Dystrophic fingernails | 0 | RUNX2 CL E G H | 860 | 1452 | | | | ORPHA | 0 | | 265 | 10472 | 600211 |