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:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | BLOC1S6 CL E G H | 26258 | 8549 | OMIM:614171 | Hermansky-Pudlak syndrome 9 | . | | | 35 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | CACNA1F CL E G H | 778 | 1393 | ORPHA:178333 | Ă…land Islands eye disease | HP:0040281 - Very frequent | | | 58 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | | | | 47 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:600501 | Abcd syndrome | . | | | 55 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | GGCX CL E G H | 2677 | 4247 | ORPHA:436274 | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa | | | | 129 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | GPR143 CL E G H | 4935 | 20145 | OMIM:300500 | Albinism, ocular, type I | | | | 64 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040282 - Frequent | | | 24 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040282 - Frequent | | | 124 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | . | | | 167 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | MC1R CL E G H | 4157 | 6929 | OMIM:203200 | Albinism, oculocutaneous, type II | . | | | 124 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | MITF CL E G H | 4286 | 7105 | OMIM:103500 | Tietz syndrome | . | | | 91 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040283 - Occasional | | | 81 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | OCA2 CL E G H | 4948 | 8101 | OMIM:203200 | Albinism, oculocutaneous, type II | . | | | 121 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | . | | | 59 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040282 - Frequent | | | 159 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | . | | | 88 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | SLC45A2 CL E G H | 51151 | 16472 | OMIM:606574 | ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4 | | | | 42 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | . | | | 61 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0007894 | HP:0007894 | Hypopigmentation of the fundus | 0 | TYR CL E G H | 7299 | 12442 | OMIM:606952 | Albinism, oculocutaneous, type IB | . | | | 146 | | |
HP:0007894 | HP:0007980 | Absent retinal pigment epithelium | 1 | GGCX CL E G H | 2677 | 4247 | ORPHA:436274 | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa | HP:0040281 - Very frequent | | | 129 | | |
HP:0007894 | HP:0007680 | Depigmented fundus | 1 | GPR143 CL E G H | 4935 | 20145 | OMIM:300500 | Albinism, ocular, type I | . | | | 64 | | |
HP:0007894 | HP:0007980 | Absent retinal pigment epithelium | 1 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0007894 | HP:0007980 | Absent retinal pigment epithelium | 1 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 124 | | |
HP:0007894 | HP:0009727 | Achromatic retinal patches | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 23 | | |
HP:0007894 | HP:0007980 | Absent retinal pigment epithelium | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 159 | | |
HP:0007894 | HP:0009727 | Achromatic retinal patches | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | . | | | 1090 | | |
HP:0007894 | HP:0009727 | Achromatic retinal patches | 1 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 2738 | | |