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:0001132 | HP:0001132 | Lens subluxation | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | | | | 184 | | |
HP:0001132 | HP:0001132 | Lens subluxation | 0 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | | | | 242 | | |
HP:0001132 | HP:0001132 | Lens subluxation | 0 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | . | | | 9 | | |
HP:0001132 | HP:0001132 | Lens subluxation | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0001132 | HP:0001132 | Lens subluxation | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93296 | Achondrogenesis type 2 | HP:0040283 - Occasional | | | 284 | | |
HP:0001132 | HP:0001132 | Lens subluxation | 0 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | | | | 1 | | |
HP:0001132 | HP:0001132 | Lens subluxation | 0 | ELP4 CL E G H | 26610 | 1171 | OMIM:617141 | Aniridia 2 | | | | 4 | | |
HP:0001132 | HP:0001132 | Lens subluxation | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | | | | 16 | | |
HP:0001132 | HP:0001132 | Lens subluxation | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | | | | 7 | | |
HP:0001132 | HP:0001132 | Lens subluxation | 0 | LOXL1 CL E G H | 4016 | 6665 | OMIM:177650 | Exfoliation syndrome | . | | | 3 | | |
HP:0001132 | HP:0001132 | Lens subluxation | 0 | P3H2 CL E G H | 55214 | 19317 | OMIM:614292 | Myopia, high, with cataract and vitreoretinal degeneration | HP:0040283 - Occasional | | | 5 | | |
HP:0001132 | HP:0001132 | Lens subluxation | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0001132 | HP:0001132 | Lens subluxation | 0 | SALL2 CL E G H | 6297 | 10526 | OMIM:216820 | COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE | | | | 1 | | |
HP:0001132 | HP:0001132 | Lens subluxation | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | | | | 19 | | |
HP:0001132 | HP:0008019 | Superior lens subluxation | 1 | CL E G H | | | | | | | | | | |
HP:0001132 | HP:0008494 | Inferior lens subluxation | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 184 | | |
HP:0001132 | HP:0008494 | Inferior lens subluxation | 1 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 1 | | |
HP:0001132 | HP:0008494 | Inferior lens subluxation | 1 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 16 | | |
HP:0001132 | HP:0008494 | Inferior lens subluxation | 1 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 7 | | |
HP:0001132 | HP:0008494 | Inferior lens subluxation | 1 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 19 | | |