Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0010925 | HP:0010925 | Nuclear punctate cataract | 0 | CRYBB2 CL E G H | 1415 | 2398 | OMIM:601547 | Cataract 3, multiple types | | | | 13 | | |
HP:0010925 | HP:0010925 | Nuclear punctate cataract | 0 | CRYGC CL E G H | 1420 | 2410 | OMIM:604307 | Cataract 2, multiple types | | | | 11 | | |
HP:0010925 | HP:0010925 | Nuclear punctate cataract | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0010925 | HP:0010925 | Nuclear punctate cataract | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0010925 | HP:0010698 | Nuclear pulverulent cataract | 1 | CRYBB2 CL E G H | 1415 | 2398 | OMIM:601547 | Cataract 3, multiple types | . | | | 13 | | |
HP:0010925 | HP:0010698 | Nuclear pulverulent cataract | 1 | CRYGC CL E G H | 1420 | 2410 | OMIM:604307 | Cataract 2, multiple types | | | | 11 | | |
HP:0010925 | HP:0010698 | Nuclear pulverulent cataract | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0010925 | HP:0010698 | Nuclear pulverulent cataract | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |