Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name CHRDL1 gene CHRDL1 Expert Review Green;Literature Corneal Dystrophy Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Megalocornea OMIM# 309300 Abnormal corneal morphology;HP:0000481 25093588 False 3 100;0;0 1.11 True ENSG00000101938 ENSG00000101938 HGNC:29861 CHST6 gene CHST6 Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Macular corneal dystrophy, MIM# 217800, MONDO:0009020 Abnormal corneal morphology;HP:0000481 11818380;16207214;26604660 False 3 100;0;0 1.11 True ENSG00000183196 ENSG00000183196 HGNC:6938 COL17A1 gene COL17A1 Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epithelial recurrent erosion dystrophy, MIM# 122400 Abnormal corneal morphology;HP:0000481 27309958;29708937;25676728 False 3 100;0;0 1.11 True ENSG00000065618 ENSG00000065618 HGNC:2194 COL8A2 gene COL8A2 Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800;Corneal dystrophy, posterior polymorphous 2, MIM# 609140 Abnormal corneal morphology;HP:0000481 11689488;15914606;18024822;18464802 False 3 100;0;0 1.11 True ENSG00000171812 ENSG00000171812 HGNC:2216 CYP4V2 gene CYP4V2 Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bietti crystalline corneoretinal dystrophy, MIM# 210370 Abnormal corneal morphology;HP:0000481 15042513 False 3 100;0;0 1.11 True ENSG00000145476 ENSG00000145476 HGNC:23198 DCN gene DCN Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, congenital stromal, MIM# 610048 Abnormal corneal morphology;HP:0000481 15671264;16935612;21993463;24413633;26828927 False 3 100;0;0 1.11 True ENSG00000011465 ENSG00000011465 HGNC:2705 GRHL2 gene GRHL2 Expert list;Expert Review Green Corneal Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, posterior polymorphous, 4, MIM# 618031 Abnormal corneal morphology;HP:0000481 29499165 False 3 100;0;0 1.11 True ENSG00000083307 ENSG00000083307 HGNC:2799 GSN gene GSN Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, Finnish type, MIM# 105120 Abnormal corneal morphology;HP:0000481 2176164 False 3 100;0;0 1.11 True ENSG00000148180 ENSG00000148180 HGNC:4620 KERA gene KERA Expert list;Expert Review Green Corneal Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Cornea plana 2, autosomal recessive, MIM# 217300" Abnormal corneal morphology;HP:0000481 23834557;11726611;10802664 False 3 100;0;0 1.11 True ENSG00000139330 ENSG00000139330 HGNC:6309 KRT12 gene KRT12 Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Meesmann corneal dystrophy 1, MIM# 122100 Abnormal corneal morphology;HP:0000481 9171831;22174841 False 3 100;0;0 1.11 True ENSG00000187242 ENSG00000187242 HGNC:6414 KRT3 gene KRT3 Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Meesmann corneal dystrophy 2, MIM# 618767 Abnormal corneal morphology;HP:0000481 9171831;16227835;18806880;26788030 False 3 100;0;0 1.11 True ENSG00000186442 ENSG00000186442 HGNC:6440 LCAT gene LCAT Expert list;Expert Review Green Corneal Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Norum disease, MIM# 245900" Abnormal corneal morphology;HP:0000481 False 3 100;0;0 1.11 True ENSG00000213398 ENSG00000213398 HGNC:6522 MCOLN1 gene MCOLN1 Expert Review Green;Literature Corneal Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lisch epithelial corneal dystrophy, OMIM# 620763 Abnormal corneal morphology;HP:0000481 PMID: 37972748, False 3 100;0;0 1.11 True ENSG00000090674 ENSG00000090674 HGNC:13356 OVOL2 gene OVOL2 Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, posterior polymorphous, 1, MIM# 122000 Abnormal corneal morphology;HP:0000481 26749309 False 3 100;0;0 1.11 True ENSG00000125850 ENSG00000125850 HGNC:15804 PIKFYVE gene PIKFYVE Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal fleck dystrophy, MIM# 121850 Abnormal corneal morphology;HP:0000481 15902656;23288988;26396486 False 3 100;0;0 1.11 True ENSG00000115020 ENSG00000115020 HGNC:23785 PRDM5 gene PRDM5 Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Brittle cornea syndrome 2, MIM# 614170 Abnormal corneal morphology;HP:0000481 21664999;22122778;26395458;33120686;27032025 False 3 100;0;0 1.11 True ENSG00000138738 ENSG00000138738 HGNC:9349 SLC4A11 gene SLC4A11 Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268;Corneal endothelial dystrophy and perceptive deafness, MIM# 217400;Corneal endothelial dystrophy, autosomal recessive, MIM# 217700 Abnormal corneal morphology;HP:0000481 False 3 100;0;0 1.11 True ENSG00000088836 ENSG00000088836 HGNC:16438 STS gene STS Expert list;Expert Review Green Corneal Dystrophy Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Ichthyosis, X-linked, MIM# 308100" Abnormal corneal morphology;HP:0000481 False 3 100;0;0 1.11 True ENSG00000101846 ENSG00000101846 HGNC:11425 TACSTD2 gene TACSTD2 Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Corneal dystrophy, gelatinous drop-like, MIM# 204870 Abnormal corneal morphology;HP:0000481 10192395;12107443;12614764;31666974;31534795 False 3 100;0;0 1.11 True ENSG00000184292 ENSG00000184292 HGNC:11530 TGFBI gene TGFBI Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, multiple types, MONDO:0000764 Abnormal corneal morphology;HP:0000481 9054935 False 3 100;0;0 1.11 True ENSG00000120708 ENSG00000120708 HGNC:11771 UBIAD1 gene UBIAD1 Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, Schnyder type, MIM# 121800 Abnormal corneal morphology;HP:0000481 18176953;23169578;31323021;30785396;30223810 False 3 100;0;0 1.11 True ENSG00000120942 ENSG00000120942 HGNC:30791 ZEB1 gene ZEB1 Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270;Corneal dystrophy, posterior polymorphous, 3, MIM# 609141 Abnormal corneal morphology;HP:0000481 16252232;20036349;26622166 False 3 100;0;0 1.11 True ENSG00000148516 ENSG00000148516 HGNC:11642 ZNF469 gene ZNF469 Expert Review Green;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Brittle cornea syndrome 1, MIM# 229200 Abnormal corneal morphology;HP:0000481 18452888;19661234;20938016;21664999;32671420 False 3 100;0;0 1.11 True ENSG00000225614 ENSG00000225614 HGNC:23216 VSX1 gene VSX1 Expert Review Amber;Victorian Clinical Genetics Services Corneal Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keratoconus 1, MIM# 148300 Abnormal corneal morphology;HP:0000481 11978762;35296157;30574758;30535423;25963163 False 2 0;100;0 1.11 True ENSG00000100987 ENSG00000100987 HGNC:12723 FECD3 str TCF4 Expert Review Green;Expert list Corneal Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corneal dystrophy, Fuchs endothelial, 3 MIM#613267 Abnormal corneal morphology;HP:0000481 25722209;24255041 False 3 100;0;0 1.11 True ENSG00000196628 ENSG00000196628 HGNC:11634 18 53253387 53253458 55586156 55586227 CTG 31 51