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:0008007 | HP:0008007 | Primary congenital glaucoma | 0 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0008007 | HP:0008007 | Primary congenital glaucoma | 0 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:600975 | Glaucoma 3, primary infantile, B | . | | | 101 | | |
HP:0008007 | HP:0008007 | Primary congenital glaucoma | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0008007 | HP:0008007 | Primary congenital glaucoma | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:613086 | Glaucoma 3, primary congenital, D | . | | | 123 | | |
HP:0008007 | HP:0008007 | Primary congenital glaucoma | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:600975 | Glaucoma 3, primary infantile, B | . | | | 123 | | |
HP:0008007 | HP:0008007 | Primary congenital glaucoma | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0008007 | HP:0008007 | Primary congenital glaucoma | 0 | TEK CL E G H | 7010 | 11724 | OMIM:600975 | Glaucoma 3, primary infantile, B | . | | | 78 | | |