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:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | | | | 63 | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040282 - Frequent | | | 284 | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | CPAMD8 CL E G H | 27151 | 23228 | OMIM:617319 | Anterior segment dysgenesis 8 | | | | 5 | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | | | | | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | | | | 18 | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | FOXE3 CL E G H | 2301 | 3808 | OMIM:610256 | Anterior segment dysgenesis 2 | | | | 23 | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:83461 | Congenital primary aphakia | | | | 23 | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:251750 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | | | | 123 | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:614819 | Weill-Marchesani syndrome 3 | | | | 123 | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040282 - Frequent | | | 39 | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | | | | | | |
HP:0008063 | HP:0008063 | Aplasia/Hypoplasia of the lens | 0 | XYLT2 CL E G H | 64132 | 15517 | ORPHA:85194 | Spondylo-ocular syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0008063 | HP:0030961 | Microspherophakia | 1 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | | | | 63 | | |
HP:0008063 | HP:0012376 | Microphakia | 1 | CPAMD8 CL E G H | 27151 | 23228 | OMIM:617319 | Anterior segment dysgenesis 8 | HP:0040283 - Occasional | | | 5 | | |
HP:0008063 | HP:0007707 | Congenital aphakia | 1 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040284 - Very rare | | | | | |
HP:0008063 | HP:0030961 | Microspherophakia | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0008063 | HP:0030961 | Microspherophakia | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0008063 | HP:0100719 | Lens coloboma | 1 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0008063 | HP:0100719 | Lens coloboma | 1 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0008063 | HP:0007707 | Congenital aphakia | 1 | FOXE3 CL E G H | 2301 | 3808 | OMIM:610256 | Anterior segment dysgenesis 2 | . | | | 23 | | |
HP:0008063 | HP:0007707 | Congenital aphakia | 1 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:83461 | Congenital primary aphakia | HP:0040281 - Very frequent | | | 23 | | |
HP:0008063 | HP:0012376 | Microphakia | 1 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | . | | | 2 | | |
HP:0008063 | HP:0012376 | Microphakia | 1 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | |
HP:0008063 | HP:0030961 | Microspherophakia | 1 | LTBP2 CL E G H | 4053 | 6715 | OMIM:251750 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | . | | | 123 | | |
HP:0008063 | HP:0030961 | Microspherophakia | 1 | LTBP2 CL E G H | 4053 | 6715 | OMIM:614819 | Weill-Marchesani syndrome 3 | . | | | 123 | | |
HP:0008063 | HP:0100719 | Lens coloboma | 1 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0008063 | HP:0007707 | Congenital aphakia | 1 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | |