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:0009926 | HP:0009926 | Epiphora | 0 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | | 406 | 2194 | 113811 |
HP:0009926 | HP:0009926 | Epiphora | 0 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | | 392 | 2194 | 113811 |
HP:0009926 | HP:0009926 | Epiphora | 0 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 426 | 2890 | 300126 |
HP:0009926 | HP:0009926 | Epiphora | 0 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 396 | 2890 | 300126 |
HP:0009926 | HP:0009926 | Epiphora | 0 | IGSF3 CL E G H | 3321 | 149700 | Lacrimal duct defect | 149700 | C1835612 | OMIM | 1 | | 22 | 5950 | 603491 |
HP:0009926 | HP:0009926 | Epiphora | 0 | KRT12 CL E G H | 3859 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | | 38 | 6414 | 601687 |
HP:0009926 | HP:0009926 | Epiphora | 0 | KRT3 CL E G H | 3850 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | | 28 | 6440 | 148043 |
HP:0009926 | HP:0009926 | Epiphora | 0 | LRP1 CL E G H | 4035 | 604093 | Keratosis pilaris | 604093 | C0263383 | OMIM | 1 | | 164 | 6692 | 107770 |
HP:0009926 | HP:0009926 | Epiphora | 0 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 136 | 14377 | 606470 |
HP:0009926 | HP:0009926 | Epiphora | 0 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 113 | 14377 | 606470 |
HP:0009926 | HP:0009926 | Epiphora | 0 | NLRP3 CL E G H | 114548 | 148200 | Keratitis fugax hereditaria | 148200 | C1835697 | OMIM | 1 | | 676 | 16400 | 606416 |
HP:0009926 | HP:0009926 | Epiphora | 0 | NLRP3 CL E G H | 114548 | 148200 | Keratitis fugax hereditaria | 148200 | C1835697 | OMIM | 1 | | 605 | 16400 | 606416 |
HP:0009926 | HP:0009926 | Epiphora | 0 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 88 | 14378 | 606471 |
HP:0009926 | HP:0009926 | Epiphora | 0 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 80 | 14378 | 606471 |
HP:0009926 | HP:0009926 | Epiphora | 0 | OVOL2 CL E G H | 58495 | 122000 | Posterior polymorphous corneal dystrophy 1 | 122000 | CN029625 | OMIM | 1 | | 31 | 15804 | 616441 |
HP:0009926 | HP:0009926 | Epiphora | 0 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 1 | | 165 | 9071 | 173350 |
HP:0009926 | HP:0009926 | Epiphora | 0 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 1 | | 159 | 9071 | 173350 |
HP:0009926 | HP:0009926 | Epiphora | 0 | SEMA4A CL E G H | 64218 | 610283 | Cone-rod dystrophy 10 | 610283 | C1846529 | OMIM | 1 | | 323 | 10729 | 607292 |
HP:0009926 | HP:0009926 | Epiphora | 0 | SEMA4A CL E G H | 64218 | 610283 | Cone-rod dystrophy 10 | 610283 | C1846529 | OMIM | 1 | | 240 | 10729 | 607292 |
HP:0009926 | HP:0009926 | Epiphora | 0 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 288 | 11824 | 604319 |
HP:0009926 | HP:0009926 | Epiphora | 0 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 230 | 11824 | 604319 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | | 406 | 2194 | 113811 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | | 406 | 2194 | 113811 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | | 392 | 2194 | 113811 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | | 392 | 2194 | 113811 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | | 406 | 2194 | 113811 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | | 392 | 2194 | 113811 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 426 | 2890 | 300126 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 396 | 2890 | 300126 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 426 | 2890 | 300126 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 426 | 2890 | 300126 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 396 | 2890 | 300126 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 396 | 2890 | 300126 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | IGSF3 CL E G H | 3321 | 149700 | Lacrimal duct defect | 149700 | C1835612 | OMIM | 1 | | 22 | 5950 | 603491 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | IGSF3 CL E G H | 3321 | 149700 | Lacrimal duct defect | 149700 | C1835612 | OMIM | 1 | | 22 | 5950 | 603491 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | IGSF3 CL E G H | 3321 | 149700 | Lacrimal duct defect | 149700 | C1835612 | OMIM | 1 | | 22 | 5950 | 603491 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | KRT12 CL E G H | 3859 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | | 38 | 6414 | 601687 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | KRT12 CL E G H | 3859 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | | 38 | 6414 | 601687 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | KRT12 CL E G H | 3859 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | | 38 | 6414 | 601687 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | KRT3 CL E G H | 3850 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | | 28 | 6440 | 148043 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | KRT3 CL E G H | 3850 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | | 28 | 6440 | 148043 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | KRT3 CL E G H | 3850 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | | 28 | 6440 | 148043 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | LRP1 CL E G H | 4035 | 604093 | Keratosis pilaris | 604093 | C0263383 | OMIM | 1 | | 164 | 6692 | 107770 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | LRP1 CL E G H | 4035 | 604093 | Keratosis pilaris | 604093 | C0263383 | OMIM | 1 | | 164 | 6692 | 107770 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | LRP1 CL E G H | 4035 | 604093 | Keratosis pilaris | 604093 | C0263383 | OMIM | 1 | | 164 | 6692 | 107770 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 136 | 14377 | 606470 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 113 | 14377 | 606470 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 136 | 14377 | 606470 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 136 | 14377 | 606470 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 113 | 14377 | 606470 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 113 | 14377 | 606470 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | NLRP3 CL E G H | 114548 | 148200 | Keratitis fugax hereditaria | 148200 | C1835697 | OMIM | 1 | | 676 | 16400 | 606416 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | NLRP3 CL E G H | 114548 | 148200 | Keratitis fugax hereditaria | 148200 | C1835697 | OMIM | 1 | | 676 | 16400 | 606416 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | NLRP3 CL E G H | 114548 | 148200 | Keratitis fugax hereditaria | 148200 | C1835697 | OMIM | 1 | | 605 | 16400 | 606416 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | NLRP3 CL E G H | 114548 | 148200 | Keratitis fugax hereditaria | 148200 | C1835697 | OMIM | 1 | | 605 | 16400 | 606416 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | NLRP3 CL E G H | 114548 | 148200 | Keratitis fugax hereditaria | 148200 | C1835697 | OMIM | 1 | | 676 | 16400 | 606416 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | NLRP3 CL E G H | 114548 | 148200 | Keratitis fugax hereditaria | 148200 | C1835697 | OMIM | 1 | | 605 | 16400 | 606416 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 88 | 14378 | 606471 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 80 | 14378 | 606471 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 88 | 14378 | 606471 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 88 | 14378 | 606471 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 80 | 14378 | 606471 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 80 | 14378 | 606471 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | OVOL2 CL E G H | 58495 | 122000 | Posterior polymorphous corneal dystrophy 1 | 122000 | CN029625 | OMIM | 1 | | 31 | 15804 | 616441 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | OVOL2 CL E G H | 58495 | 122000 | Posterior polymorphous corneal dystrophy 1 | 122000 | CN029625 | OMIM | 1 | | 31 | 15804 | 616441 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | OVOL2 CL E G H | 58495 | 122000 | Posterior polymorphous corneal dystrophy 1 | 122000 | CN029625 | OMIM | 1 | | 31 | 15804 | 616441 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 1 | | 165 | 9071 | 173350 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 1 | | 165 | 9071 | 173350 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 1 | | 159 | 9071 | 173350 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 1 | | 159 | 9071 | 173350 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 1 | | 165 | 9071 | 173350 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 1 | | 159 | 9071 | 173350 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | SEMA4A CL E G H | 64218 | 610283 | Cone-rod dystrophy 10 | 610283 | C1846529 | OMIM | 1 | | 323 | 10729 | 607292 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | SEMA4A CL E G H | 64218 | 610283 | Cone-rod dystrophy 10 | 610283 | C1846529 | OMIM | 1 | | 323 | 10729 | 607292 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | SEMA4A CL E G H | 64218 | 610283 | Cone-rod dystrophy 10 | 610283 | C1846529 | OMIM | 1 | | 240 | 10729 | 607292 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | SEMA4A CL E G H | 64218 | 610283 | Cone-rod dystrophy 10 | 610283 | C1846529 | OMIM | 1 | | 240 | 10729 | 607292 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | SEMA4A CL E G H | 64218 | 610283 | Cone-rod dystrophy 10 | 610283 | C1846529 | OMIM | 1 | | 323 | 10729 | 607292 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | SEMA4A CL E G H | 64218 | 610283 | Cone-rod dystrophy 10 | 610283 | C1846529 | OMIM | 1 | | 240 | 10729 | 607292 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 288 | 11824 | 604319 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 288 | 11824 | 604319 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 230 | 11824 | 604319 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 230 | 11824 | 604319 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 288 | 11824 | 604319 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 230 | 11824 | 604319 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | | 406 | 2194 | 113811 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | | 392 | 2194 | 113811 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | | 406 | 2194 | 113811 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | | 392 | 2194 | 113811 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 426 | 2890 | 300126 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 396 | 2890 | 300126 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 426 | 2890 | 300126 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 396 | 2890 | 300126 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | IGSF3 CL E G H | 3321 | 149700 | Lacrimal duct defect | 149700 | C1835612 | OMIM | 1 | | 22 | 5950 | 603491 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | IGSF3 CL E G H | 3321 | 149700 | Lacrimal duct defect | 149700 | C1835612 | OMIM | 1 | | 22 | 5950 | 603491 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | KRT12 CL E G H | 3859 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | | 38 | 6414 | 601687 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | KRT12 CL E G H | 3859 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | | 38 | 6414 | 601687 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | KRT3 CL E G H | 3850 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | | 28 | 6440 | 148043 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | KRT3 CL E G H | 3850 | 122100 | Meesman's corneal dystrophy | 122100 | C0339277 | OMIM | 1 | | 28 | 6440 | 148043 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | LRP1 CL E G H | 4035 | 604093 | Keratosis pilaris | 604093 | C0263383 | OMIM | 1 | | 164 | 6692 | 107770 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | LRP1 CL E G H | 4035 | 604093 | Keratosis pilaris | 604093 | C0263383 | OMIM | 1 | | 164 | 6692 | 107770 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 136 | 14377 | 606470 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 113 | 14377 | 606470 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 136 | 14377 | 606470 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 113 | 14377 | 606470 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | NLRP3 CL E G H | 114548 | 148200 | Keratitis fugax hereditaria | 148200 | C1835697 | OMIM | 1 | | 676 | 16400 | 606416 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | NLRP3 CL E G H | 114548 | 148200 | Keratitis fugax hereditaria | 148200 | C1835697 | OMIM | 1 | | 605 | 16400 | 606416 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | NLRP3 CL E G H | 114548 | 148200 | Keratitis fugax hereditaria | 148200 | C1835697 | OMIM | 1 | | 676 | 16400 | 606416 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | NLRP3 CL E G H | 114548 | 148200 | Keratitis fugax hereditaria | 148200 | C1835697 | OMIM | 1 | | 605 | 16400 | 606416 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 88 | 14378 | 606471 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 80 | 14378 | 606471 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 88 | 14378 | 606471 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 80 | 14378 | 606471 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | OVOL2 CL E G H | 58495 | 122000 | Posterior polymorphous corneal dystrophy 1 | 122000 | CN029625 | OMIM | 1 | | 31 | 15804 | 616441 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | OVOL2 CL E G H | 58495 | 122000 | Posterior polymorphous corneal dystrophy 1 | 122000 | CN029625 | OMIM | 1 | | 31 | 15804 | 616441 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 1 | | 165 | 9071 | 173350 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 1 | | 159 | 9071 | 173350 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 1 | | 165 | 9071 | 173350 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 1 | | 159 | 9071 | 173350 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | SEMA4A CL E G H | 64218 | 610283 | Cone-rod dystrophy 10 | 610283 | C1846529 | OMIM | 1 | | 323 | 10729 | 607292 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | SEMA4A CL E G H | 64218 | 610283 | Cone-rod dystrophy 10 | 610283 | C1846529 | OMIM | 1 | | 240 | 10729 | 607292 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | SEMA4A CL E G H | 64218 | 610283 | Cone-rod dystrophy 10 | 610283 | C1846529 | OMIM | 1 | | 323 | 10729 | 607292 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | SEMA4A CL E G H | 64218 | 610283 | Cone-rod dystrophy 10 | 610283 | C1846529 | OMIM | 1 | | 240 | 10729 | 607292 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 288 | 11824 | 604319 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 230 | 11824 | 604319 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 288 | 11824 | 604319 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 230 | 11824 | 604319 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0009926 | HP:0009926 | Epiphora | 0 | SDHD CL E G H | 6392 | 100093 | | | | ORPHA | 0 | | 507 | 10683 | 602690 |
HP:0009926 | HP:0009926 | Epiphora | 0 | SDHD CL E G H | 6392 | 100093 | | | | ORPHA | 0 | | 442 | 10683 | 602690 |
HP:0009926 | HP:0009926 | Epiphora | 0 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 0 | | 151 | 20858 | 608736 |
HP:0009926 | HP:0009926 | Epiphora | 0 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 0 | | 136 | 20858 | 608736 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | SDHD CL E G H | 6392 | 100093 | | | | ORPHA | 0 | | 507 | 10683 | 602690 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | SDHD CL E G H | 6392 | 100093 | | | | ORPHA | 0 | | 507 | 10683 | 602690 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | SDHD CL E G H | 6392 | 100093 | | | | ORPHA | 0 | | 442 | 10683 | 602690 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | SDHD CL E G H | 6392 | 100093 | | | | ORPHA | 0 | | 442 | 10683 | 602690 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | SDHD CL E G H | 6392 | 100093 | | | | ORPHA | 0 | | 507 | 10683 | 602690 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | SDHD CL E G H | 6392 | 100093 | | | | ORPHA | 0 | | 442 | 10683 | 602690 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 0 | | 151 | 20858 | 608736 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 0 | | 151 | 20858 | 608736 |
HP:0009926 | HP:0031881 | Decreased tear drainage | 1 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 0 | | 136 | 20858 | 608736 |
HP:0009926 | HP:0031734 | Lacrimal pump failure | 1 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 0 | | 136 | 20858 | 608736 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 0 | | 151 | 20858 | 608736 |
HP:0009926 | HP:0031731 | Increased tear production | 1 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 0 | | 136 | 20858 | 608736 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | SDHD CL E G H | 6392 | 100093 | | | | ORPHA | 0 | | 507 | 10683 | 602690 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | SDHD CL E G H | 6392 | 100093 | | | | ORPHA | 0 | | 442 | 10683 | 602690 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | SDHD CL E G H | 6392 | 100093 | | | | ORPHA | 0 | | 507 | 10683 | 602690 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | SDHD CL E G H | 6392 | 100093 | | | | ORPHA | 0 | | 442 | 10683 | 602690 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 0 | | 151 | 20858 | 608736 |
HP:0009926 | HP:0031732 | Increased basal tear production | 2 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 0 | | 136 | 20858 | 608736 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 0 | | 151 | 20858 | 608736 |
HP:0009926 | HP:0031733 | Reflex tearing | 2 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 0 | | 136 | 20858 | 608736 |