| Cataract-gene (Mouse) . | OMIM ID . | OMIM title . | Ortholog (human gene) . | OMIM allelic variant . | Mutation (OMIM) . |
|---|---|---|---|---|---|
| Bfsp1 | 603 307 | Beaded filament structural protein 1; BFSP1 | BFSP1 | 0001 Cataract, cortical, juvenile-onset | 3.3-KB DEL, NT736 |
| Col4a1 | 120 130 | Collagen, type IV, alpha-1; COL4A1 | COL4A1 | 0010 Brain small vessel disease with axenfeld-rieger anomaly | GLY720ASP |
| Cryaa | 123 580 | Crystallin, alpha-A; CRYAA | CRYAA | 0001 Cataract, zonular central nuclear | ARG116CYS |
| Cryaa | 123 580 | Crystallin, alpha-A; CRYAA | CRYAA | 0004 Cataract, autosomal dominant, multiple types, with microcornea | ARG116HIS |
| Cryba1 | 123 610 | Crystallin, beta-A1; CRYBA1 | CRYBA1 | 0002 Cataract, autosomal dominant, congenital, nuclear progressive | 3-BP DEL, GLY91DEL |
| Cryba1 | 123 610 | Crystallin, beta-A1; CRYBA1 | CRYBA1 | 0001 Cataract, congenital zonular, with sutural opacities | EX3-4 DEL |
| Crybb2 | 123 620 | Crystallin, beta-B2; CRYBB2 | CRYBB2 | 0001 Cataract, congenital, cerulean type, 2 | GLN155TER |
| Crygc | 123 680 | Crystallin, gamma-C; CRYGC | CRYGC | 0002 Cataract, variable zonular pulverulent | 5-BP DUP, NT226 |
| Crygc | 123 680 | Crystallin, gamma-C; CRYGC | CRYGC | 0001 Cataract, coppock-like | THR5PRO |
| Crygd | 123 690 | Crystallin, gamma-D; CRYGD | CRYGD | 0001 Cataract, punctate, progressive juvenile-onset | ARG14CYS |
| Crygs | 123 730 | Crystallin, gamma-S; CRYGS | CRYGS | 0001 Cataract, progressive polymorphic cortical | GLY18VAL |
| Epha2 | 176 946 | Ephrin receptor EphA2; EPHA2 | EPHA2 | 0001 Cataract, posterior polar, 1 | GLY948TRP |
| Galk1 | 604 313 | Galactokinase 1; GALK1 | GALK1 | 0001 Galactokinase deficiency | VAL32MET |
| Gja3 | 121 015 | Gap junction protein, alpha-3; GJA3 | GJA3 | 0001 Cataract, zonular pulverulent, 3 | ASN63SER |
| Gja3 | 121 015 | Gap junction protein, alpha-3; GJA3 | GJA3 | 0003 Cataract, zonular pulverulent, 3 | PRO187LEU |
| Gja8 | 600 897 | Gap junction protein, alpha-8; GJA8 | GJA8 | 0001 Cataract, zonular pulverulent 1 | PRO88SER |
| Hsf4 | 602 438 | Heat-shock transcription factor 4; HSF4 | HSF4 | 0001 Cataract, lamellar | LEU115PRO |
| Lim2 | 154 045 | Lens intrinsic membrane protein 2, 19-KD; LIM2 | LIM2 | 0001 Cataract, cortical pulverulent, late-onset | PHE105VAL |
| Maf | 177 075 | V-MAF avian musculoaponeurotic fibrosarcoma oncogene homolog; MAF | MAF | 0001 Cataract, pulverulent, juvenile-onset | ARG288PRO |
| Mip | 154 050 | Major intrinsic protein of lens fiber; MIP | MIP | 0001 Cataract, polymorphic and lamellar | THR138ARG |
| Pax6 | 607 108 | Paired box gene 6; PAX6 | PAX6 | 0005 Aniridia | ARG103TER |
| Pex7 | 601 757 | Peroxisome biogenesis factor 7; PEX7 | PEX7 | 0009 Refsum disease | TYR40TER |
| Rho | 180 380 | Rhodopsin; RHO | RHO | 0016 retinitis pigmentosa 4 | LYS296GLU |
| Wrn | 604 611 | RECQ protein-like 2; RECQL2 | WRN | 0007 Werner syndrome | IVS31DS, A-T, +2, FS1158TER |
| Cataract-gene (Mouse) . | OMIM ID . | OMIM title . | Ortholog (human gene) . | OMIM allelic variant . | Mutation (OMIM) . |
|---|---|---|---|---|---|
| Bfsp1 | 603 307 | Beaded filament structural protein 1; BFSP1 | BFSP1 | 0001 Cataract, cortical, juvenile-onset | 3.3-KB DEL, NT736 |
| Col4a1 | 120 130 | Collagen, type IV, alpha-1; COL4A1 | COL4A1 | 0010 Brain small vessel disease with axenfeld-rieger anomaly | GLY720ASP |
| Cryaa | 123 580 | Crystallin, alpha-A; CRYAA | CRYAA | 0001 Cataract, zonular central nuclear | ARG116CYS |
| Cryaa | 123 580 | Crystallin, alpha-A; CRYAA | CRYAA | 0004 Cataract, autosomal dominant, multiple types, with microcornea | ARG116HIS |
| Cryba1 | 123 610 | Crystallin, beta-A1; CRYBA1 | CRYBA1 | 0002 Cataract, autosomal dominant, congenital, nuclear progressive | 3-BP DEL, GLY91DEL |
| Cryba1 | 123 610 | Crystallin, beta-A1; CRYBA1 | CRYBA1 | 0001 Cataract, congenital zonular, with sutural opacities | EX3-4 DEL |
| Crybb2 | 123 620 | Crystallin, beta-B2; CRYBB2 | CRYBB2 | 0001 Cataract, congenital, cerulean type, 2 | GLN155TER |
| Crygc | 123 680 | Crystallin, gamma-C; CRYGC | CRYGC | 0002 Cataract, variable zonular pulverulent | 5-BP DUP, NT226 |
| Crygc | 123 680 | Crystallin, gamma-C; CRYGC | CRYGC | 0001 Cataract, coppock-like | THR5PRO |
| Crygd | 123 690 | Crystallin, gamma-D; CRYGD | CRYGD | 0001 Cataract, punctate, progressive juvenile-onset | ARG14CYS |
| Crygs | 123 730 | Crystallin, gamma-S; CRYGS | CRYGS | 0001 Cataract, progressive polymorphic cortical | GLY18VAL |
| Epha2 | 176 946 | Ephrin receptor EphA2; EPHA2 | EPHA2 | 0001 Cataract, posterior polar, 1 | GLY948TRP |
| Galk1 | 604 313 | Galactokinase 1; GALK1 | GALK1 | 0001 Galactokinase deficiency | VAL32MET |
| Gja3 | 121 015 | Gap junction protein, alpha-3; GJA3 | GJA3 | 0001 Cataract, zonular pulverulent, 3 | ASN63SER |
| Gja3 | 121 015 | Gap junction protein, alpha-3; GJA3 | GJA3 | 0003 Cataract, zonular pulverulent, 3 | PRO187LEU |
| Gja8 | 600 897 | Gap junction protein, alpha-8; GJA8 | GJA8 | 0001 Cataract, zonular pulverulent 1 | PRO88SER |
| Hsf4 | 602 438 | Heat-shock transcription factor 4; HSF4 | HSF4 | 0001 Cataract, lamellar | LEU115PRO |
| Lim2 | 154 045 | Lens intrinsic membrane protein 2, 19-KD; LIM2 | LIM2 | 0001 Cataract, cortical pulverulent, late-onset | PHE105VAL |
| Maf | 177 075 | V-MAF avian musculoaponeurotic fibrosarcoma oncogene homolog; MAF | MAF | 0001 Cataract, pulverulent, juvenile-onset | ARG288PRO |
| Mip | 154 050 | Major intrinsic protein of lens fiber; MIP | MIP | 0001 Cataract, polymorphic and lamellar | THR138ARG |
| Pax6 | 607 108 | Paired box gene 6; PAX6 | PAX6 | 0005 Aniridia | ARG103TER |
| Pex7 | 601 757 | Peroxisome biogenesis factor 7; PEX7 | PEX7 | 0009 Refsum disease | TYR40TER |
| Rho | 180 380 | Rhodopsin; RHO | RHO | 0016 retinitis pigmentosa 4 | LYS296GLU |
| Wrn | 604 611 | RECQ protein-like 2; RECQL2 | WRN | 0007 Werner syndrome | IVS31DS, A-T, +2, FS1158TER |
Out of 81 known mouse genes associated with cataract, 44 human orthologs were also associated with cataract. Of these, 20 genes have OMIM allelic variants that are cataract related.
| Cataract-gene (Mouse) . | OMIM ID . | OMIM title . | Ortholog (human gene) . | OMIM allelic variant . | Mutation (OMIM) . |
|---|---|---|---|---|---|
| Bfsp1 | 603 307 | Beaded filament structural protein 1; BFSP1 | BFSP1 | 0001 Cataract, cortical, juvenile-onset | 3.3-KB DEL, NT736 |
| Col4a1 | 120 130 | Collagen, type IV, alpha-1; COL4A1 | COL4A1 | 0010 Brain small vessel disease with axenfeld-rieger anomaly | GLY720ASP |
| Cryaa | 123 580 | Crystallin, alpha-A; CRYAA | CRYAA | 0001 Cataract, zonular central nuclear | ARG116CYS |
| Cryaa | 123 580 | Crystallin, alpha-A; CRYAA | CRYAA | 0004 Cataract, autosomal dominant, multiple types, with microcornea | ARG116HIS |
| Cryba1 | 123 610 | Crystallin, beta-A1; CRYBA1 | CRYBA1 | 0002 Cataract, autosomal dominant, congenital, nuclear progressive | 3-BP DEL, GLY91DEL |
| Cryba1 | 123 610 | Crystallin, beta-A1; CRYBA1 | CRYBA1 | 0001 Cataract, congenital zonular, with sutural opacities | EX3-4 DEL |
| Crybb2 | 123 620 | Crystallin, beta-B2; CRYBB2 | CRYBB2 | 0001 Cataract, congenital, cerulean type, 2 | GLN155TER |
| Crygc | 123 680 | Crystallin, gamma-C; CRYGC | CRYGC | 0002 Cataract, variable zonular pulverulent | 5-BP DUP, NT226 |
| Crygc | 123 680 | Crystallin, gamma-C; CRYGC | CRYGC | 0001 Cataract, coppock-like | THR5PRO |
| Crygd | 123 690 | Crystallin, gamma-D; CRYGD | CRYGD | 0001 Cataract, punctate, progressive juvenile-onset | ARG14CYS |
| Crygs | 123 730 | Crystallin, gamma-S; CRYGS | CRYGS | 0001 Cataract, progressive polymorphic cortical | GLY18VAL |
| Epha2 | 176 946 | Ephrin receptor EphA2; EPHA2 | EPHA2 | 0001 Cataract, posterior polar, 1 | GLY948TRP |
| Galk1 | 604 313 | Galactokinase 1; GALK1 | GALK1 | 0001 Galactokinase deficiency | VAL32MET |
| Gja3 | 121 015 | Gap junction protein, alpha-3; GJA3 | GJA3 | 0001 Cataract, zonular pulverulent, 3 | ASN63SER |
| Gja3 | 121 015 | Gap junction protein, alpha-3; GJA3 | GJA3 | 0003 Cataract, zonular pulverulent, 3 | PRO187LEU |
| Gja8 | 600 897 | Gap junction protein, alpha-8; GJA8 | GJA8 | 0001 Cataract, zonular pulverulent 1 | PRO88SER |
| Hsf4 | 602 438 | Heat-shock transcription factor 4; HSF4 | HSF4 | 0001 Cataract, lamellar | LEU115PRO |
| Lim2 | 154 045 | Lens intrinsic membrane protein 2, 19-KD; LIM2 | LIM2 | 0001 Cataract, cortical pulverulent, late-onset | PHE105VAL |
| Maf | 177 075 | V-MAF avian musculoaponeurotic fibrosarcoma oncogene homolog; MAF | MAF | 0001 Cataract, pulverulent, juvenile-onset | ARG288PRO |
| Mip | 154 050 | Major intrinsic protein of lens fiber; MIP | MIP | 0001 Cataract, polymorphic and lamellar | THR138ARG |
| Pax6 | 607 108 | Paired box gene 6; PAX6 | PAX6 | 0005 Aniridia | ARG103TER |
| Pex7 | 601 757 | Peroxisome biogenesis factor 7; PEX7 | PEX7 | 0009 Refsum disease | TYR40TER |
| Rho | 180 380 | Rhodopsin; RHO | RHO | 0016 retinitis pigmentosa 4 | LYS296GLU |
| Wrn | 604 611 | RECQ protein-like 2; RECQL2 | WRN | 0007 Werner syndrome | IVS31DS, A-T, +2, FS1158TER |
| Cataract-gene (Mouse) . | OMIM ID . | OMIM title . | Ortholog (human gene) . | OMIM allelic variant . | Mutation (OMIM) . |
|---|---|---|---|---|---|
| Bfsp1 | 603 307 | Beaded filament structural protein 1; BFSP1 | BFSP1 | 0001 Cataract, cortical, juvenile-onset | 3.3-KB DEL, NT736 |
| Col4a1 | 120 130 | Collagen, type IV, alpha-1; COL4A1 | COL4A1 | 0010 Brain small vessel disease with axenfeld-rieger anomaly | GLY720ASP |
| Cryaa | 123 580 | Crystallin, alpha-A; CRYAA | CRYAA | 0001 Cataract, zonular central nuclear | ARG116CYS |
| Cryaa | 123 580 | Crystallin, alpha-A; CRYAA | CRYAA | 0004 Cataract, autosomal dominant, multiple types, with microcornea | ARG116HIS |
| Cryba1 | 123 610 | Crystallin, beta-A1; CRYBA1 | CRYBA1 | 0002 Cataract, autosomal dominant, congenital, nuclear progressive | 3-BP DEL, GLY91DEL |
| Cryba1 | 123 610 | Crystallin, beta-A1; CRYBA1 | CRYBA1 | 0001 Cataract, congenital zonular, with sutural opacities | EX3-4 DEL |
| Crybb2 | 123 620 | Crystallin, beta-B2; CRYBB2 | CRYBB2 | 0001 Cataract, congenital, cerulean type, 2 | GLN155TER |
| Crygc | 123 680 | Crystallin, gamma-C; CRYGC | CRYGC | 0002 Cataract, variable zonular pulverulent | 5-BP DUP, NT226 |
| Crygc | 123 680 | Crystallin, gamma-C; CRYGC | CRYGC | 0001 Cataract, coppock-like | THR5PRO |
| Crygd | 123 690 | Crystallin, gamma-D; CRYGD | CRYGD | 0001 Cataract, punctate, progressive juvenile-onset | ARG14CYS |
| Crygs | 123 730 | Crystallin, gamma-S; CRYGS | CRYGS | 0001 Cataract, progressive polymorphic cortical | GLY18VAL |
| Epha2 | 176 946 | Ephrin receptor EphA2; EPHA2 | EPHA2 | 0001 Cataract, posterior polar, 1 | GLY948TRP |
| Galk1 | 604 313 | Galactokinase 1; GALK1 | GALK1 | 0001 Galactokinase deficiency | VAL32MET |
| Gja3 | 121 015 | Gap junction protein, alpha-3; GJA3 | GJA3 | 0001 Cataract, zonular pulverulent, 3 | ASN63SER |
| Gja3 | 121 015 | Gap junction protein, alpha-3; GJA3 | GJA3 | 0003 Cataract, zonular pulverulent, 3 | PRO187LEU |
| Gja8 | 600 897 | Gap junction protein, alpha-8; GJA8 | GJA8 | 0001 Cataract, zonular pulverulent 1 | PRO88SER |
| Hsf4 | 602 438 | Heat-shock transcription factor 4; HSF4 | HSF4 | 0001 Cataract, lamellar | LEU115PRO |
| Lim2 | 154 045 | Lens intrinsic membrane protein 2, 19-KD; LIM2 | LIM2 | 0001 Cataract, cortical pulverulent, late-onset | PHE105VAL |
| Maf | 177 075 | V-MAF avian musculoaponeurotic fibrosarcoma oncogene homolog; MAF | MAF | 0001 Cataract, pulverulent, juvenile-onset | ARG288PRO |
| Mip | 154 050 | Major intrinsic protein of lens fiber; MIP | MIP | 0001 Cataract, polymorphic and lamellar | THR138ARG |
| Pax6 | 607 108 | Paired box gene 6; PAX6 | PAX6 | 0005 Aniridia | ARG103TER |
| Pex7 | 601 757 | Peroxisome biogenesis factor 7; PEX7 | PEX7 | 0009 Refsum disease | TYR40TER |
| Rho | 180 380 | Rhodopsin; RHO | RHO | 0016 retinitis pigmentosa 4 | LYS296GLU |
| Wrn | 604 611 | RECQ protein-like 2; RECQL2 | WRN | 0007 Werner syndrome | IVS31DS, A-T, +2, FS1158TER |
Out of 81 known mouse genes associated with cataract, 44 human orthologs were also associated with cataract. Of these, 20 genes have OMIM allelic variants that are cataract related.
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