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:0007648 | HP:0007648 | Punctate cataract | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:193220 | VITREORETINOCHOROIDOPATHY | | | | 182 | | |
HP:0007648 | HP:0007648 | Punctate cataract | 0 | CRYBB1 CL E G H | 1414 | 2397 | OMIM:611544 | Cataract 17, multiple types | | | | 18 | | |
HP:0007648 | HP:0007648 | Punctate cataract | 0 | CRYBB2 CL E G H | 1415 | 2398 | OMIM:601547 | Cataract 3, multiple types | | | | 13 | | |
HP:0007648 | HP:0007648 | Punctate cataract | 0 | CRYGC CL E G H | 1420 | 2410 | OMIM:604307 | Cataract 2, multiple types | | | | 11 | | |
HP:0007648 | HP:0007648 | Punctate cataract | 0 | FTL CL E G H | 2512 | 3999 | OMIM:600886 | Hyperferritinemia with or without cataract | | | | 33 | | |
HP:0007648 | HP:0007648 | Punctate cataract | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0007648 | HP:0007648 | Punctate cataract | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:116200 | Cataract 1, multiple types | | | | 34 | | |
HP:0007648 | HP:0007648 | Punctate cataract | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0007648 | HP:0007648 | Punctate cataract | 0 | HSF4 CL E G H | 3299 | 5227 | OMIM:116800 | Cataract, lamellar | | | | 38 | | |
HP:0007648 | HP:0007648 | Punctate cataract | 0 | LIM2 CL E G H | 3982 | 6610 | OMIM:615277 | Cataract 19, multiple types | | | | 16 | | |
HP:0007648 | HP:0007648 | Punctate cataract | 0 | MAF CL E G H | 4094 | 6776 | OMIM:610202 | Cataract 21, multiple types | | | | 21 | | |
HP:0007648 | HP:0007648 | Punctate cataract | 0 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | | | | 163 | | |
HP:0007648 | HP:0007648 | Punctate cataract | 0 | RTN4IP1 CL E G H | 84816 | 18647 | OMIM:616732 | OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10 | | | | 2 | | |
HP:0007648 | HP:0007648 | Punctate cataract | 0 | SEC23A CL E G H | 10484 | 10701 | OMIM:607812 | Craniolenticulosutural dysplasia | . | | | 2 | | |
HP:0007648 | HP:0007648 | Punctate cataract | 0 | VIM CL E G H | 7431 | 12692 | OMIM:116300 | Cataract 30, multiple types | | | | 3 | | |
HP:0007648 | HP:0010693 | Pulverulent cataract | 1 | BEST1 CL E G H | 7439 | 12703 | OMIM:193220 | VITREORETINOCHOROIDOPATHY | . | | | 182 | | |
HP:0007648 | HP:0010693 | Pulverulent cataract | 1 | CRYBB1 CL E G H | 1414 | 2397 | OMIM:611544 | Cataract 17, multiple types | . | | | 18 | | |
HP:0007648 | HP:0010925 | Nuclear punctate cataract | 1 | CRYBB2 CL E G H | 1415 | 2398 | OMIM:601547 | Cataract 3, multiple types | | | | 13 | | |
HP:0007648 | HP:0010693 | Pulverulent cataract | 1 | CRYBB2 CL E G H | 1415 | 2398 | OMIM:601547 | Cataract 3, multiple types | | | | 13 | | |
HP:0007648 | HP:0007976 | Cerulean cataract | 1 | CRYBB2 CL E G H | 1415 | 2398 | OMIM:601547 | Cataract 3, multiple types | HP:0040280 - Obligate | HP:0003577 - Congenital onset | | 13 | | |
HP:0007648 | HP:0010693 | Pulverulent cataract | 1 | CRYGC CL E G H | 1420 | 2410 | OMIM:604307 | Cataract 2, multiple types | | | | 11 | | |
HP:0007648 | HP:0010925 | Nuclear punctate cataract | 1 | CRYGC CL E G H | 1420 | 2410 | OMIM:604307 | Cataract 2, multiple types | | | | 11 | | |
HP:0007648 | HP:0010693 | Pulverulent cataract | 1 | FTL CL E G H | 2512 | 3999 | OMIM:600886 | Hyperferritinemia with or without cataract | HP:0040283 - Occasional | | | 33 | | |
HP:0007648 | HP:0010925 | Nuclear punctate cataract | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0007648 | HP:0010693 | Pulverulent cataract | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0007648 | HP:0010693 | Pulverulent cataract | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:116200 | Cataract 1, multiple types | . | | | 34 | | |
HP:0007648 | HP:0010925 | Nuclear punctate cataract | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0007648 | HP:0010693 | Pulverulent cataract | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0007648 | HP:0010693 | Pulverulent cataract | 1 | HSF4 CL E G H | 3299 | 5227 | OMIM:116800 | Cataract, lamellar | . | | | 38 | | |
HP:0007648 | HP:0010693 | Pulverulent cataract | 1 | LIM2 CL E G H | 3982 | 6610 | OMIM:615277 | Cataract 19, multiple types | | | | 16 | | |
HP:0007648 | HP:0007976 | Cerulean cataract | 1 | MAF CL E G H | 4094 | 6776 | OMIM:610202 | Cataract 21, multiple types | . | | | 21 | | |
HP:0007648 | HP:0010693 | Pulverulent cataract | 1 | MAF CL E G H | 4094 | 6776 | OMIM:610202 | Cataract 21, multiple types | | | | 21 | | |
HP:0007648 | HP:0007976 | Cerulean cataract | 1 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | HP:0040283 - Occasional | | | 163 | | |
HP:0007648 | HP:0007976 | Cerulean cataract | 1 | RTN4IP1 CL E G H | 84816 | 18647 | OMIM:616732 | OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10 | | | | 2 | | |
HP:0007648 | HP:0010693 | Pulverulent cataract | 1 | VIM CL E G H | 7431 | 12692 | OMIM:116300 | Cataract 30, multiple types | . | | | 3 | | |
HP:0007648 | HP:0010698 | Nuclear pulverulent cataract | 2 | CRYBB2 CL E G H | 1415 | 2398 | OMIM:601547 | Cataract 3, multiple types | . | | | 13 | | |
HP:0007648 | HP:0010698 | Nuclear pulverulent cataract | 2 | CRYGC CL E G H | 1420 | 2410 | OMIM:604307 | Cataract 2, multiple types | | | | 11 | | |
HP:0007648 | HP:0010698 | Nuclear pulverulent cataract | 2 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0007648 | HP:0010698 | Nuclear pulverulent cataract | 2 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0007648 | HP:0007780 | Cortical pulverulent cataract | 2 | LIM2 CL E G H | 3982 | 6610 | OMIM:615277 | Cataract 19, multiple types | | | | 16 | | |
HP:0007648 | HP:0007780 | Cortical pulverulent cataract | 2 | MAF CL E G H | 4094 | 6776 | OMIM:610202 | Cataract 21, multiple types | . | HP:0003621 - Juvenile onset | | 21 | | |