Phenotype: Zonular cataract (HP:0010920)
Associated genes and diseases:
gene_symbol: SEC23A
disease_id: OMIM:607812
disease_name: CRANIOLENTICULOSUTURAL DYSPLASIA
gene_symbol: LIM2
disease_id: OMIM:615277
disease_name: CATARACT 19, MULTIPLE TYPES
gene_symbol: PAK2
disease_id: OMIM:618458
disease_name: KNOBLOCH SYNDROME 2
gene_symbol: OCRL
disease_id: OMIM:309000
disease_name: LOWE OCULOCEREBRORENAL SYNDROME
gene_symbol: CRYBA4
disease_id: OMIM:610425
disease_name: CATARACT 23, MULTIPLE TYPES
gene_symbol: CRYGS
disease_id: OMIM:116100
disease_name: CATARACT 20, MULTIPLE TYPES
gene_symbol: CRYGB
disease_id: OMIM:615188
disease_name: CATARACT 39, MULTIPLE TYPES
gene_symbol: BFSP1
disease_id: OMIM:611391
disease_name: CATARACT 33, MULTIPLE TYPES
gene_symbol: MIP
disease_id: OMIM:615274
disease_name: CATARACT 15, MULTIPLE TYPES
gene_symbol: RTN4IP1
disease_id: OMIM:616732
disease_name: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
gene_symbol: MAF
disease_id: OMIM:610202
disease_name: CATARACT 21, MULTIPLE TYPES
gene_symbol: OPA3
disease_id: ORPHA:67036
disease_name: Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant
gene_symbol: BEST1
disease_id: OMIM:193220
disease_name: VITREORETINOCHOROIDOPATHY
gene_symbol: VIM
disease_id: OMIM:116300
disease_name: CATARACT 30, MULTIPLE TYPES
gene_symbol: NHS
disease_id: OMIM:302200
disease_name: CATARACT 40
gene_symbol: GJA8
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: CRYBB2
disease_id: OMIM:601547
disease_name: CATARACT 3, MULTIPLE TYPES
gene_symbol: ACADS
disease_id: OMIM:201470
disease_name: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
gene_symbol: RECQL4
disease_id: OMIM:268400
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 2
gene_symbol: CRYBA1
disease_id: OMIM:600881
disease_name: CATARACT 10, MULTIPLE TYPES
gene_symbol: HSF4
disease_id: OMIM:116800
disease_name: CATARACT 5, MULTIPLE TYPES
gene_symbol: GJA3
disease_id: OMIM:601885
disease_name: CATARACT 14, MULTIPLE TYPES
gene_symbol: GNPAT
disease_id: OMIM:222765
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
gene_symbol: SLC2A1
disease_id: ORPHA:168577
disease_name: Hereditary cryohydrocytosis with reduced stomatin
CHC type 2
Hereditary cryohydrocytosis type 2
Stomatin-deficient cryohydrocytosis
sdCHC
gene_symbol: CLPB
disease_id: OMIM:616271
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII
gene_symbol: BAP1
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: CYSLTR2
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: GNAQ
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: GNA11
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: SF3B1
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: PANK4
disease_id: OMIM:619593
disease_name: CATARACT 49
gene_symbol: WFS1
disease_id: OMIM:116400
disease_name: CATARACT 41
gene_symbol: NR2E3
disease_id: OMIM:611131
disease_name: RETINITIS PIGMENTOSA 37
gene_symbol: ZNF408
disease_id: OMIM:616468
disease_name: EXUDATIVE VITREORETINOPATHY 6
gene_symbol: EFEMP1
disease_id: OMIM:611276
disease_name: GLAUCOMA 1, OPEN ANGLE, H
gene_symbol: CRYBB3
disease_id: OMIM:609741
disease_name: CATARACT 22, MULTIPLE TYPES
gene_symbol: CHMP4B
disease_id: OMIM:605387
disease_name: CATARACT 31, MULTIPLE TYPES
gene_symbol: CRYGC
disease_id: OMIM:604307
disease_name: CATARACT 2, MULTIPLE TYPES
gene_symbol: FTL
disease_id: OMIM:600886
disease_name: HYPERFERRITINEMIA WITH OR WITHOUT CATARACT
gene_symbol: IMPG2
disease_id: OMIM:613581
disease_name: RETINITIS PIGMENTOSA 56
gene_symbol: CFAP410
disease_id: OMIM:617547
disease_name: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
gene_symbol: PRG4
disease_id: ORPHA:2848
disease_name: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Arthropathy-camptodactyly syndrome
CACP syndrome
Pericarditis-arthropathy-camptodactyly syndrome
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
gene_symbol: GJA1
disease_id: ORPHA:1010
disease_name: Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
PPK-CA, Stevanovic type
Palmoplantar keratoderma and congenital alopecia, Stevanovic type
gene_symbol: CRYBB1
disease_id: OMIM:611544
disease_name: CATARACT 17, MULTIPLE TYPES
gene_symbol: FYCO1
disease_id: OMIM:610019
disease_name: CATARACT 18
gene_symbol: GALK1
disease_id: ORPHA:79237
disease_name: Galactokinase deficiency
GALK deficiency
GALK-D
Galactokinase deficiency galactosemia
Galactosemia type 2
gene_symbol: COL18A1
disease_id: OMIM:267750
disease_name: KNOBLOCH SYNDROME 1
gene_symbol: KIAA1549
disease_id: OMIM:618613
disease_name: RETINITIS PIGMENTOSA 86
gene_symbol: FZD5
disease_id: OMIM:620731
disease_name: MICROPHTHALMIA/COLOBOMA 11
gene_symbol: NF2
disease_id: ORPHA:637
disease_name: Full NF2-related schwannomatosis
Full NF2
Full neurofibromatosis type 2
Nonmosaic NF2-related schwannomatosis
Nonmosaic neurofibromatosis type 2
gene_symbol: NF2
disease_id: OMIM:101000
disease_name: NEUROFIBROMATOSIS, TYPE II