Phenotype: Corneal dystrophy (HP:0001131)
Associated genes and diseases:
gene_symbol: SLC4A11
disease_id: OMIM:217700
disease_name: CORNEAL ENDOTHELIAL DYSTROPHY
gene_symbol: SLC4A11
disease_id: OMIM:613268
disease_name: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
gene_symbol: SLC4A11
disease_id: OMIM:217400
disease_name: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
gene_symbol: SLC4A11
disease_id: ORPHA:1490
disease_name: Corneal dystrophy-perceptive deafness syndrome
CDPD
Corneal dystrophy with progressive deafness
Corneal dystrophy with progressive hearing loss
Corneal dystrophy-perceptive hearing loss syndrome
Harboyan syndrome
gene_symbol: ZEB1
disease_id: OMIM:609141
disease_name: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3
gene_symbol: ZEB1
disease_id: OMIM:613270
disease_name: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
gene_symbol: TACSTD2
disease_id: OMIM:204870
disease_name: CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE
gene_symbol: COL8A2
disease_id: OMIM:609140
disease_name: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
gene_symbol: COL8A2
disease_id: OMIM:136800
disease_name: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1
gene_symbol: UBIAD1
disease_id: OMIM:121800
disease_name: SCHNYDER CORNEAL DYSTROPHY
gene_symbol: COL17A1
disease_id: ORPHA:293381
disease_name: Epithelial recurrent erosion dystrophy
Dystrophia Helsinglandica
Dystrophia Smolandiensis
ERED
Recurrent hereditary corneal erosions
gene_symbol: SLC25A4
disease_id: ORPHA:1369
disease_name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Sengers syndrome
gene_symbol: TKFC
disease_id: ORPHA:1369
disease_name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Sengers syndrome
gene_symbol: AGK
disease_id: ORPHA:1369
disease_name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Sengers syndrome
gene_symbol: MBTPS2
disease_id: OMIM:308800
disease_name: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED
gene_symbol: MBTPS2
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: KRT12
disease_id: OMIM:122100
disease_name: CORNEAL DYSTROPHY, MEESMANN, 1
gene_symbol: AGBL1
disease_id: OMIM:615523
disease_name: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8
gene_symbol: PRDM5
disease_id: ORPHA:90354
disease_name: Brittle cornea syndrome
Ehlers-Danlos syndrome type 6B
gene_symbol: ZNF469
disease_id: ORPHA:90354
disease_name: Brittle cornea syndrome
Ehlers-Danlos syndrome type 6B
gene_symbol: CHST6
disease_id: OMIM:217800
disease_name: MACULAR DYSTROPHY, CORNEAL
gene_symbol: MAB21L1
disease_id: ORPHA:495875
disease_name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
gene_symbol: GLA
disease_id: OMIM:301500
disease_name: FABRY DISEASE
gene_symbol: GLA
disease_id: ORPHA:324
disease_name: Fabry disease
Alpha-galactosidase A deficiency
Anderson-Fabry disease
FD
gene_symbol: TGFBI
disease_id: OMIM:608470
disease_name: CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE
gene_symbol: TGFBI
disease_id: OMIM:121820
disease_name: CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE
gene_symbol: TGFBI
disease_id: OMIM:602082
disease_name: CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE
gene_symbol: DCN
disease_id: OMIM:610048
disease_name: CORNEAL DYSTROPHY, CONGENITAL STROMAL
gene_symbol: GNAQ
disease_id: ORPHA:3205
disease_name: Sturge-Weber syndrome
Encephalofacial angiomatosis
Encephalotrigeminal angiomatosis
SWS
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe angiomatosis
Sturge-Weber-Krabbe syndrome
gene_symbol: OPN1MW
disease_id: ORPHA:16
disease_name: Blue cone monochromatism
Atypical X-linked achromatopsia
Blue cone monochromacy
Color blindness, blue monocone monochromatic type
S cone monochromacy
S cone monochromatism
X-linked incomplete achromatopsia
gene_symbol: OPN1LW
disease_id: ORPHA:16
disease_name: Blue cone monochromatism
Atypical X-linked achromatopsia
Blue cone monochromacy
Color blindness, blue monocone monochromatic type
S cone monochromacy
S cone monochromatism
X-linked incomplete achromatopsia
gene_symbol: EXOSC2
disease_id: OMIM:617763
disease_name: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
gene_symbol: TRIM37
disease_id: OMIM:253250
disease_name: MULIBREY NANISM
gene_symbol: GJA8
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: MAF
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: CRYBA4
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: CRYAA
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: CRYBB2
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: CRYBB1
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: CRYGC
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: CRYGD
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: SAT1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: LRP1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: GSN
disease_id: ORPHA:85448
disease_name: AGel amyloidosis
Familial amyloid polyneuropathy type IV
Familial amyloidosis, Finnish type
Gelsolin amyloidosis
Hereditary amyloidosis, Finnish type
gene_symbol: GSN
disease_id: OMIM:105120
disease_name: AMYLOIDOSIS, FINNISH TYPE
gene_symbol: MCOLN1
disease_id: OMIM:620763
disease_name: CORNEAL DYSTROPHY, LISCH EPITHELIAL
gene_symbol: CHRDL1
disease_id: OMIM:309300
disease_name: MEGALOCORNEA
gene_symbol: CYP4V2
disease_id: OMIM:210370
disease_name: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
gene_symbol: PIKFYVE
disease_id: OMIM:121850
disease_name: CORNEAL DYSTROPHY, FLECK