Corneal dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
CORNEAL DYSTROPHIES, HEREDITARY
MESH:D003317
VSX1 Unknown
11978762
CTD
CORNEAL DYSTROPHY
C0010036MONDO_0018102MONDO:0018102
COL17A1 Causal — Disgenet
GRHL2 Causal — Disgenet
SLC4A11 Causal — Disgenet
TGFBI Causal — Disgenet
ZEB1 Causal — Disgenet
ANTXR1 Unknown
39024449
GWAS catalog
CHRNB1 Unknown
39024449
GWAS catalog
COL24A1 Unknown
39024449
GWAS catalog
COL5A1 Unknown
39024449
GWAS catalog
CYP4V2 Unknown — Disgenet
ELOVL4 Unknown — Disgenet
GDPD5 Unknown
39024449
GWAS catalog
ITPA Unknown — Disgenet
KANK4 Unknown
39024449
GWAS catalog
KERA Unknown — Disgenet
KLKB1 Unknown — Disgenet
KRT12 Unknown — Disgenet
LAMB1 Unknown
39024449
GWAS catalog
RXRA Unknown
39024449
GWAS catalog
SPARCL1 Unknown
39169229
GWAS catalog
TACSTD2 Unknown — Disgenet
TCF4 Unknown
39024449
GWAS catalog
VSX1 Unknown — Disgenet
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
217400C1857572MESH:C535473
SLC4A11 Unknown — CTD Disgenet HPO
CORNEAL DYSTROPHY AVELLINO TYPE
MESH:C535474
TGFBI Unknown — CTD
CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE 1
MESH:C535476
TGFBI Unknown — CTD
CORNEAL DYSTROPHY, AVELLINO TYPE
607541
TGFBI Unknown — HPO
CORNEAL DYSTROPHY, CONGENITAL STROMAL
610048C1864738MESH:C566452
DCN Unknown — CTD Disgenet HPO
SPARCL1 Unknown — Disgenet
CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
MESH:C535475
UBIAD1 Unknown — CTD
CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE
121820C0521723MESH:C535477
TGFBI Unknown — CTD Disgenet HPO
CORNEAL DYSTROPHY, FLECK
121850MESH:C563256
PIKFYVE Unknown — CTD HPO
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1
136800C1850959MONDO:0007637
COL8A2 Causal
11689488 15914606 18024822 18464802
ClinVar Disgenet GWAS catalog HPO
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3
613267C2750451MESH:C567678MONDO:0013203
TCF4 Causal — CTD ClinVar Disgenet GenCC HPO
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
613268C2750450MESH:C567677MONDO:0013204
SLC4A11 Causal
20848555 24502824
CTD ClinVar Disgenet GWAS catalog HPO
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
613270C2750448MESH:C567675MONDO:0013206
ZEB1 Causal — CTD ClinVar Disgenet GenCC HPO
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8
615523C3809798MONDO:0014228OMIM:615523
AGBL1 Unknown
24094747
CTD ClinVar Disgenet GWAS catalog HPO
CORNEAL DYSTROPHY, FUCHS' ENDOTHELIAL, 1
MESH:C535478
COL8A2 Unknown — CTD
CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE
204870MESH:C535480
TACSTD2 Unknown — CTD HPO
CORNEAL DYSTROPHY, GROENOUW TYPE I
121900
TGFBI Unknown — HPO
CORNEAL DYSTROPHY, JUVENILE EPITHELIAL OF MEESMANN
C0339277MESH:D053559
KRT12 Unknown — CTD Disgenet
KRT3 Unknown — Disgenet
CORNEAL DYSTROPHY, LATTICE TYPE 3
C0339273
TACSTD2 Unknown — Disgenet
CORNEAL DYSTROPHY, LATTICE TYPE 3A
MONDO:0012044
TGFBI Causal — ClinVar
CORNEAL DYSTROPHY, LATTICE TYPE I
122200
TGFBI Unknown — HPO
CORNEAL DYSTROPHY, LATTICE TYPE IIIA
608471C1837974MESH:C563923
TGFBI Unknown — CTD Disgenet HPO
CORNEAL DYSTROPHY, LISCH EPITHELIAL
620763C2749050MESH:C567588
MCOLN1 Unknown — CTD Disgenet HPO
CORNEAL DYSTROPHY, MEESMANN, 1
122100C5231499MONDO:0020791
KRT12 Causal
9399908 9171831 16227835 26788030 10612503 30535821 26758872
ClinVar Disgenet GWAS catalog HPO
KRT3 Unknown
16227835 18806880 19337156 21176769 26788030 9171831
Disgenet GWAS catalog