Human | ESCO2 | 157570 | establishment of sister chromatid cohesion N-acetyltransferase 2 | |
Human | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase, gamma subunit | |
Human | SLC4A11 | 83959 | solute carrier family 4, sodium borate transporter, member 11 | |
Human | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | Corneal opacities on slit-lamp exam |
Human | MCOLN1 | 57192 | mucolipin 1 | |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | |
Human | RAB23 | 51715 | RAB23, member RAS oncogene family | |
Human | SMARCAL1 | 50485 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 | |
Human | KERA | 11081 | keratocan | Corneal parenchymal opacities No evidence that endothelial dysfunction and germline mutation of lumican and keratocan genes participate in the etiology of subepithelial corneal haze |
Human | C7orf16 | 10842 | | INFERRED, Score=800, UMLKSK CUI: C0010038 |
Human | SLC4A4 | 8671 | solute carrier family 4 (sodium bicarbonate cotransporter), member 4 | |
Human | PEX3 | 8504 | peroxisomal biogenesis factor 3 | |
Human | TGFBI | 7045 | transforming growth factor, beta-induced, 68kDa | Corneal amyloidosis with an autosomal dominant mode of inheritance is characterized clinically by the presence of refractile polymorphic corneal opacities, which is caused by an A546D mutation in the TGFBI gene |
Human | ST14 | 6768 | suppression of tumorigenicity 14 (colon carcinoma) | |
Human | TRAPPC2 | 6399 | trafficking protein particle complex 2 | |
Human | PEX5 | 5830 | peroxisomal biogenesis factor 5 | |
Human | PEX19 | 5824 | peroxisomal biogenesis factor 19 | |
Human | PITX3 | 5309 | paired-like homeodomain 3 | |
Human | PEX14 | 5195 | peroxisomal biogenesis factor 14 | |
Human | PEX13 | 5194 | peroxisomal biogenesis factor 13 | |
Human | PEX10 | 5192 | peroxisomal biogenesis factor 10 | |
Human | PEX1 | 5189 | peroxisomal biogenesis factor 1 | |
Human | PAX6 | 5080 | paired box 6 | Hereditary childhood corneal clouding |
Human | NTRK1 | 4914 | neurotrophic tyrosine kinase, receptor, type 1 | |
Human | NDP | 4693 | Norrie disease (pseudoglioma) | |