Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040284 - Very rare | | | 415 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040281 - Very frequent | | | 415 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:177850 | Pseudoxanthoma elasticum, forme fruste | . | | | 415 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 415 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | APOE CL E G H | 348 | 613 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 39 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 140 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 3 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 2 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | | | | 86 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | | | | 57 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:611773 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | . | | | 193 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:180000 | Retinal arteries, tortuosity of | . | | | 193 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:615368 | Lethal congenital contracture syndrome 5 | . | | | 167 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | | | | 108 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | | | | 54 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040284 - Very rare | | | 151 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040281 - Very frequent | | | 151 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 199 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 55 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 115 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | HMCN1 CL E G H | 83872 | 19194 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 262 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 23 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040283 - Occasional | | | 52 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 26 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 48 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 238 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | . | | | 56 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 14 | | |
HP:0000573 | HP:0000573 | Retinal hemorrhage | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 5 | | |
HP:0000573 | HP:0031805 | Intraretinal hemorrhage | 1 | CL E G H | | | | | | | | | | |
HP:0000573 | HP:0031611 | Sub-inner limiting membrane hemorrhage | 1 | CL E G H | | | | | | | | | | |
HP:0000573 | HP:0025243 | Subretinal hemorrhage | 1 | CL E G H | | | | | | | | | | |
HP:0000573 | HP:0025574 | Macular hemorrhage | 1 | APOE CL E G H | 348 | 613 | OMIM:603075 | Macular degeneration, age-related, 1 | HP:0040283 - Occasional | | | 39 | | |
HP:0000573 | HP:0025244 | Subretinal pigment epithelium hemorrhage | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040282 - Frequent | | | 140 | | |
HP:0000573 | HP:0025244 | Subretinal pigment epithelium hemorrhage | 1 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040282 - Frequent | | | 3 | | |
HP:0000573 | HP:0025244 | Subretinal pigment epithelium hemorrhage | 1 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040282 - Frequent | | | 2 | | |
HP:0000573 | HP:0025574 | Macular hemorrhage | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 86 | | |
HP:0000573 | HP:0025574 | Macular hemorrhage | 1 | CFHR1 CL E G H | 3078 | 4888 | OMIM:603075 | Macular degeneration, age-related, 1 | HP:0040283 - Occasional | | | | | |
HP:0000573 | HP:0025574 | Macular hemorrhage | 1 | CFHR3 CL E G H | 10878 | 16980 | OMIM:603075 | Macular degeneration, age-related, 1 | HP:0040283 - Occasional | | | | | |
HP:0000573 | HP:0025574 | Macular hemorrhage | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 57 | | |
HP:0000573 | HP:0025574 | Macular hemorrhage | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 54 | | |
HP:0000573 | HP:0025574 | Macular hemorrhage | 1 | HMCN1 CL E G H | 83872 | 19194 | OMIM:603075 | Macular degeneration, age-related, 1 | HP:0040283 - Occasional | | | 262 | | |
HP:0000573 | HP:0025582 | Submacular hemorrhage | 2 | CL E G H | | | | | | | | | | |
HP:0000573 | HP:0025581 | Foveal hemorrhage | 2 | CL E G H | | | | | | | | | | |
HP:0000573 | HP:0025242 | Dot-and-blot retinal hemorrhage | 2 | CL E G H | | | | | | | | | | |
HP:0000573 | HP:0025241 | Flame-shaped retinal hemorrhage | 2 | CL E G H | | | | | | | | | | |