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:0009926 | HP:0009926 | Epiphora | 0 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | COL17A1 CL E G H | 1308 | 2194 | OMIM:122400 | Epithelial recurrent erosion dystrophy | . | | | 129 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | . | | | 2 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | IGSF3 CL E G H | 3321 | 5950 | OMIM:149700 | Lacrimal duct defect | | | | 3 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | KRT12 CL E G H | 3859 | 6414 | OMIM:122100 | Meesmann corneal dystrophy 1 | . | | | 22 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | KRT3 CL E G H | 3850 | 6440 | OMIM:618767 | CORNEAL DYSTROPHY, MEESMANN, 2; MECD2 | | | | 3 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | LRP1 CL E G H | 4035 | 6692 | OMIM:604093 | Keratosis pilaris atrophicans | | | | 4 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 27 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:148200 | Keratoendotheliitis fugax hereditaria | . | | | 217 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | NOP10 CL E G H | 55505 | 14378 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 17 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | OVOL2 CL E G H | 58495 | 15804 | OMIM:122000 | Corneal dystrophy, posterior polymorphous, 1 | | | | 4 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | PARN CL E G H | 5073 | 8609 | OMIM:616353 | Dyskeratosis congenita, autosomal recessive 6 | | | | 26 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:100093 | Carcinoid syndrome | HP:0040283 - Occasional | | | 129 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610283 | Cone-Rod dystrophy 10 | . | | | 48 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:144755 | Hyperostosis cranialis interna | HP:0040284 - Very rare | | | 5 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | . | | | 1 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | . | | | 60 | | |
HP:0009926 | HP:0009926 | Epiphora | 0 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0009926 | HP:0031731 | Increased tear production | 1 | CL E G H | | | | | | | | | | |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | CL E G H | | | | | | | | | | |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | CL E G H | | | | | | | | | | |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | CL E G H | | | | | | | | | | |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | CL E G H | | | | | | | | | | |