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:0011512 | HP:0011512 | Hyperpigmentation of the fundus | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0011512 | HP:0011512 | Hyperpigmentation of the fundus | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | | | | 3179 | | |
HP:0011512 | HP:0011512 | Hyperpigmentation of the fundus | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | | | | 3179 | | |
HP:0011512 | HP:0011512 | Hyperpigmentation of the fundus | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 3179 | | |
HP:0011512 | HP:0011512 | Hyperpigmentation of the fundus | 0 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040281 - Very frequent | | | 3179 | | |
HP:0011512 | HP:0011512 | Hyperpigmentation of the fundus | 0 | CAPN5 CL E G H | 726 | 1482 | OMIM:193235 | Vitreoretinopathy, neovascular inflammatory | | | | 6 | | |
HP:0011512 | HP:0011512 | Hyperpigmentation of the fundus | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | | | | 86 | | |
HP:0011512 | HP:0011512 | Hyperpigmentation of the fundus | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | | | | 57 | | |
HP:0011512 | HP:0011512 | Hyperpigmentation of the fundus | 0 | EFEMP1 CL E G H | 2202 | 3218 | OMIM:126600 | Doyne honeycomb retinal dystrophy | | | | 54 | | |
HP:0011512 | HP:0011512 | Hyperpigmentation of the fundus | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | | | | 54 | | |
HP:0011512 | HP:0011512 | Hyperpigmentation of the fundus | 0 | MUTYH CL E G H | 4595 | 7527 | ORPHA:247798 | MUTYH-related attenuated familial adenomatous polyposis | | | | 592 | | |
HP:0011512 | HP:0011512 | Hyperpigmentation of the fundus | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | | | | 40 | | |
HP:0011512 | HP:0007649 | Congenital hypertrophy of retinal pigment epithelium | 1 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0011512 | HP:0007649 | Congenital hypertrophy of retinal pigment epithelium | 1 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0011512 | HP:0007649 | Congenital hypertrophy of retinal pigment epithelium | 1 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040282 - Frequent | | | 3179 | | |
HP:0011512 | HP:0007649 | Congenital hypertrophy of retinal pigment epithelium | 1 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040282 - Frequent | | | 3179 | | |
HP:0011512 | HP:0007658 | Large hyperpigmented retinal spots | 1 | CAPN5 CL E G H | 726 | 1482 | OMIM:193235 | Vitreoretinopathy, neovascular inflammatory | . | | | 6 | | |
HP:0011512 | HP:0007937 | Reticular pigmentary degeneration | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040281 - Very frequent | | | 86 | | |
HP:0011512 | HP:0007937 | Reticular pigmentary degeneration | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040281 - Very frequent | | | 57 | | |
HP:0011512 | HP:0007937 | Reticular pigmentary degeneration | 1 | EFEMP1 CL E G H | 2202 | 3218 | OMIM:126600 | Doyne honeycomb retinal dystrophy | . | | | 54 | | |
HP:0011512 | HP:0007937 | Reticular pigmentary degeneration | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040281 - Very frequent | | | 54 | | |
HP:0011512 | HP:0007649 | Congenital hypertrophy of retinal pigment epithelium | 1 | MUTYH CL E G H | 4595 | 7527 | ORPHA:247798 | MUTYH-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 592 | | |
HP:0011512 | HP:0007937 | Reticular pigmentary degeneration | 1 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0011512 | HP:0030504 | Grouped congenital hypertrophy of retinal pigment epithelium | 2 | CL E G H | | | | | | | | | | |
HP:0011512 | HP:0011529 | Multiple bilateral congenital hypertrophy of retinal pigment epithelium | 2 | CL E G H | | | | | | | | | | |
HP:0011512 | HP:0011528 | Solitary congenital hypertrophy of retinal pigment epithelium | 2 | CL E G H | | | | | | | | | | |