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:0100018 | HP:0100018 | Nuclear cataract | 0 | BFSP1 CL E G H | 631 | 1040 | OMIM:611391 | Cataract 33, multiple types | . | | | 15 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:617547 | Retinal dystrophy with or without macular staphyloma | . | | | | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | CHMP4B CL E G H | 128866 | 16171 | OMIM:605387 | Cataract 31, multiple types | . | | | 4 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | CRYBA1 CL E G H | 1411 | 2394 | OMIM:600881 | Cataract, congenital zonular, with sutural opacities | | | | 9 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | CRYBB1 CL E G H | 1414 | 2397 | OMIM:611544 | Cataract 17, multiple types | . | HP:0003577 - Congenital onset | | 18 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | CRYBB2 CL E G H | 1415 | 2398 | OMIM:601547 | Cataract 3, multiple types | | | | 13 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | CRYBB3 CL E G H | 1417 | 2400 | OMIM:609741 | Cataract 22, multiple types | . | HP:0003577 - Congenital onset | | 22 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | CRYGC CL E G H | 1420 | 2410 | OMIM:604307 | Cataract 2, multiple types | . | | | 11 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | FTL CL E G H | 2512 | 3999 | OMIM:600886 | Hyperferritinemia with or without cataract | . | | | 33 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | FYCO1 CL E G H | 79443 | 14673 | OMIM:610019 | Cataract, autosomal recessive congenital 2 | | | | 140 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | HP:0040282 - Frequent | | | 23 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:116200 | Cataract 1, multiple types | . | | | 34 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | HSF4 CL E G H | 3299 | 5227 | OMIM:116800 | Cataract, lamellar | . | | | 38 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | IMPG2 CL E G H | 50939 | 18362 | OMIM:613581 | RETINITIS PIGMENTOSA 56; RP56 | | | | 120 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | MIP CL E G H | 4284 | 7103 | OMIM:615274 | Cataract 15, multiple types | . | | | 40 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | NHS CL E G H | 4810 | 7820 | OMIM:302200 | Cataract, congenital total, with posterior sutural opacities in heterozygotes | . | HP:0003577 - Congenital onset | | 88 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | PRG4 CL E G H | 10216 | 9364 | ORPHA:2848 | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome | | | | 6 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | VIM CL E G H | 7431 | 12692 | OMIM:116300 | Cataract 30, multiple types | | | | 3 | | |
HP:0100018 | HP:0100018 | Nuclear cataract | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:116400 | Cataract, nuclear total | . | | | 389 | | |
HP:0100018 | HP:0010699 | Triangular nuclear cataract | 1 | CL E G H | | | | | | | | | | |
HP:0100018 | HP:0010925 | Nuclear punctate cataract | 1 | CRYBB2 CL E G H | 1415 | 2398 | OMIM:601547 | Cataract 3, multiple types | | | | 13 | | |
HP:0100018 | HP:0010925 | Nuclear punctate cataract | 1 | CRYGC CL E G H | 1420 | 2410 | OMIM:604307 | Cataract 2, multiple types | | | | 11 | | |
HP:0100018 | HP:0010926 | Aculeiform cataract | 1 | CRYGC CL E G H | 1420 | 2410 | OMIM:604307 | Cataract 2, multiple types | | | | 11 | | |
HP:0100018 | 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:0100018 | 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:0100018 | HP:0007657 | Diffuse nuclear cataract | 1 | VIM CL E G H | 7431 | 12692 | OMIM:116300 | Cataract 30, multiple types | . | | | 3 | | |
HP:0100018 | HP:0010698 | Nuclear pulverulent cataract | 2 | CRYBB2 CL E G H | 1415 | 2398 | OMIM:601547 | Cataract 3, multiple types | . | | | 13 | | |
HP:0100018 | HP:0010698 | Nuclear pulverulent cataract | 2 | CRYGC CL E G H | 1420 | 2410 | OMIM:604307 | Cataract 2, multiple types | | | | 11 | | |
HP:0100018 | 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:0100018 | HP:0010698 | Nuclear pulverulent cataract | 2 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |