Macular corneal dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Macular corneal dystrophy 98969, C0024439 CHST6 Causal Pathogenic evidence from ClinVar 11017086, 15013869, 19365571 ClinVar
VSX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11978762 -
Macular corneal dystrophy Type II (disorder) C1691013 CHST6 Causal Pathogenic evidence from ClinVar - ClinVar
Macular dystrophy, corneal type 1 C1636149 CHST6 Causal Pathogenic evidence from ClinVar 11017086, 11139648, 11278593, 11818380, 12218059, 12824236, 12882769, 12882775, 12883341, 14609920, 14735064, 14984470, 15013869, 15652851, 16568029, 17962390, 18500531, 19365571, 20539220, 21242781, 24311932, 24926691, 25081284, 26604660, 27604308 ClinVar