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:0001142 | HP:0001142 | Lenticonus | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:104200 | Alport syndrome, autosomal dominant | . | | | 161 | | |
HP:0001142 | HP:0001142 | Lenticonus | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:203780 | Alport syndrome, autosomal recessive | | | | 161 | | |
HP:0001142 | HP:0001142 | Lenticonus | 0 | COL4A4 CL E G H | 1286 | 2206 | OMIM:203780 | Alport syndrome, autosomal recessive | | | | 174 | | |
HP:0001142 | HP:0001142 | Lenticonus | 0 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0001142 | HP:0001142 | Lenticonus | 0 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 678 | | |
HP:0001142 | HP:0001142 | Lenticonus | 0 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 18 | | |
HP:0001142 | HP:0001142 | Lenticonus | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | |
HP:0001142 | HP:0001142 | Lenticonus | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | HP:0040283 - Occasional | | | 159 | | |
HP:0001142 | HP:0001142 | Lenticonus | 0 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | HP:0040283 - Occasional | | | 32 | | |
HP:0001142 | HP:0001142 | Lenticonus | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | HP:0040283 - Occasional | | | 107 | | |
HP:0001142 | HP:0001142 | Lenticonus | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | HP:0040283 - Occasional | | | 47 | | |
HP:0001142 | HP:0011501 | Anterior lenticonus | 1 | COL4A3 CL E G H | 1285 | 2204 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 161 | | |
HP:0001142 | HP:0011501 | Anterior lenticonus | 1 | COL4A4 CL E G H | 1286 | 2206 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 174 | | |
HP:0001142 | HP:0011501 | Anterior lenticonus | 1 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0001142 | HP:0011501 | Anterior lenticonus | 1 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040283 - Occasional | | | 678 | | |
HP:0001142 | HP:0011501 | Anterior lenticonus | 1 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040283 - Occasional | | | 18 | | |
HP:0001142 | HP:0011502 | Posterior lenticonus | 1 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | . | | | 92 | | |