Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | B2M CL E G H | 567 | 314652 | | | | ORPHA | 1 | | 32 | 914 | 109700 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | B2M CL E G H | 567 | 314652 | | | | ORPHA | 1 | | 39 | 914 | 109700 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | FOXE3 CL E G H | 2301 | 88632 | | | | ORPHA | 1 | | 152 | 3808 | 601094 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | FOXE3 CL E G H | 2301 | 88632 | | | | ORPHA | 1 | | 176 | 3808 | 601094 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | GJB2 CL E G H | 2706 | 148210 | Keratitis-ichthyosis-deafness syndrome, autosomal dominant | 148210 | C1835678 | OMIM | 1 | | 482 | 4284 | 121011 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | GJB2 CL E G H | 2706 | 148210 | Keratitis-ichthyosis-deafness syndrome, autosomal dominant | 148210 | C1835678 | OMIM | 1 | | 460 | 4284 | 121011 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | LBR CL E G H | 3930 | 779 | Arthrogryposis due to muscular dystrophy | | | ORPHA | 1 | | 225 | 6518 | 600024 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | LBR CL E G H | 3930 | 779 | Arthrogryposis due to muscular dystrophy | | | ORPHA | 1 | | 256 | 6518 | 600024 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1347 | 6636 | 150330 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1486 | 6636 | 150330 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | NLRP1 CL E G H | 22861 | 617388 | Autoinflammation with arthritis and dyskeratosis | 617388 | C4479278 | OMIM | 1 | | 387 | 14374 | 606636 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | NLRP1 CL E G H | 22861 | 617388 | Autoinflammation with arthritis and dyskeratosis | 617388 | C4479278 | OMIM | 1 | | 202 | 14374 | 606636 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | PITX3 CL E G H | 5309 | 88632 | | | | ORPHA | 1 | | 41 | 9006 | 602669 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | PITX3 CL E G H | 5309 | 88632 | | | | ORPHA | 1 | | 39 | 9006 | 602669 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | RNF125 CL E G H | 54941 | 616260 | Tenorio syndrome | 616260 | C4015710 | OMIM | 1 | | 80 | 21150 | 610432 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | RNF125 CL E G H | 54941 | 616260 | Tenorio syndrome | 616260 | C4015710 | OMIM | 1 | | 76 | 21150 | 610432 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | SCN9A CL E G H | 6335 | 133020 | Primary erythromelalgia | 133020 | C0014805 | OMIM | 1 | | 1708 | 10597 | 603415 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | SCN9A CL E G H | 6335 | 133020 | Primary erythromelalgia | 133020 | C0014805 | OMIM | 1 | | 1438 | 10597 | 603415 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 167 | 12877 | 606480 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 149 | 12877 | 606480 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | BTNL2 CL E G H | 56244 | 797 | | | | ORPHA | 0 | | 19 | 1142 | 606000 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | C4A CL E G H | 720 | 117 | | | | ORPHA | 0 | | 33 | 1323 | 120810 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | CCR1 CL E G H | 1230 | 117 | | | | ORPHA | 0 | | 19 | 1602 | 601159 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | ERAP1 CL E G H | 51752 | 117 | | | | ORPHA | 0 | | 90 | 18173 | 606832 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 0 | | 479 | 3434 | 126340 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 0 | | 360 | 3434 | 126340 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 0 | | 479 | 3434 | 126340 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 0 | | 360 | 3434 | 126340 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | FAS CL E G H | 355 | 117 | | | | ORPHA | 0 | | 227 | 11920 | 134637 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | FAS CL E G H | 355 | 117 | | | | ORPHA | 0 | | 275 | 11920 | 134637 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | HLA-B CL E G H | 3106 | 117 | | | | ORPHA | 0 | | 18 | 4932 | 142830 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | HLA-DRB1 CL E G H | 3123 | 797 | | | | ORPHA | 0 | | 24 | 4948 | 142857 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | IL10 CL E G H | 3586 | 117 | | | | ORPHA | 0 | | 81 | 5962 | 124092 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | IL10 CL E G H | 3586 | 117 | | | | ORPHA | 0 | | 62 | 5962 | 124092 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | IL12A CL E G H | 3592 | 117 | | | | ORPHA | 0 | | 28 | 5969 | 161560 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | IL12A-AS1 CL E G H | 101928376 | 117 | | | | ORPHA | 0 | | 13 | 49094 | 0 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | IL23R CL E G H | 149233 | 117 | | | | ORPHA | 0 | | 106 | 19100 | 607562 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | IL23R CL E G H | 149233 | 117 | | | | ORPHA | 0 | | 57 | 19100 | 607562 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | KLRC4 CL E G H | 8302 | 117 | | | | ORPHA | 0 | | 37 | 6377 | 602893 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | MEFV CL E G H | 4210 | 117 | | | | ORPHA | 0 | | 795 | 6998 | 608107 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | MEFV CL E G H | 4210 | 117 | | | | ORPHA | 0 | | 737 | 6998 | 608107 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 0 | | 92 | 16002 | 609188 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 0 | | 63 | 16002 | 609188 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | STAT4 CL E G H | 6775 | 117 | | | | ORPHA | 0 | | 62 | 11365 | 600558 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | STAT4 CL E G H | 6775 | 117 | | | | ORPHA | 0 | | 120 | 11365 | 600558 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | TLR4 CL E G H | 7099 | 117 | | | | ORPHA | 0 | | 56 | 11850 | 603030 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | TLR4 CL E G H | 7099 | 117 | | | | ORPHA | 0 | | 54 | 11850 | 603030 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | TNXB CL E G H | 7148 | 285 | Impossible syndrome | | | ORPHA | 0 | | 752 | 11976 | 600985 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | TNXB CL E G H | 7148 | 285 | Impossible syndrome | | | ORPHA | 0 | | 739 | 11976 | 600985 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | UBAC2 CL E G H | 337867 | 117 | | | | ORPHA | 0 | | 79 | 20486 | 0 |
HP:0001097 | HP:0001097 | Keratoconjunctivitis sicca | 0 | UBAC2 CL E G H | 337867 | 117 | | | | ORPHA | 0 | | 82 | 20486 | 0 |