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:0009917 | HP:0009917 | Persistent pupillary membrane | 0 | ADAMTSL4 CL E G H | 54507 | 19706 | OMIM:225200 | Ectopia lentis et pupillae | HP:0040283 - Occasional | | | 84 | | |
HP:0009917 | HP:0009917 | Persistent pupillary membrane | 0 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0009917 | HP:0009917 | Persistent pupillary membrane | 0 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | . | | | 4 | | |
HP:0009917 | HP:0009917 | Persistent pupillary membrane | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0009917 | HP:0009917 | Persistent pupillary membrane | 0 | CPAMD8 CL E G H | 27151 | 23228 | OMIM:617319 | Anterior segment dysgenesis 8 | HP:0040283 - Occasional | | | 5 | | |
HP:0009917 | HP:0009917 | Persistent pupillary membrane | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0009917 | HP:0009917 | Persistent pupillary membrane | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0009917 | HP:0009917 | Persistent pupillary membrane | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:79414 | Woolly hair nevus | | | | 113 | | |
HP:0009917 | HP:0009917 | Persistent pupillary membrane | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0009917 | HP:0009917 | Persistent pupillary membrane | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |