Human | FREM2 | 341640 | FRAS1 related extracellular matrix protein 2 | |
Human | USH1G | 124590 | Usher syndrome 1G (autosomal recessive) | INFERRED, Score=800, UMLKSK CUI: C0456909 |
Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | |
Human | ADAMTS10 | 81794 | ADAM metallopeptidase with thrombospondin type 1 motif, 10 | |
Human | CEP290 | 80184 | centrosomal protein 290kDa | findings of preserved foveal cones and visual brain anatomy in Leber congenital amaurosis with CEP290 mutations, despite blindness and rod cell death, suggest an opportunity for visual restoration of central vision in this form of inherited blindness |
Human | FRAS1 | 80144 | Fraser syndrome 1 | |
Human | C20orf7 | 79133 | | |
Human | PCDH15 | 65217 | protocadherin-related 15 | INFERRED, Score=800, UMLKSK CUI: C0456909 |
Human | CDH23 | 64072 | cadherin-related 23 | INFERRED, Score=800, UMLKSK CUI: C0456909 |
Human | NUB1 | 51667 | negative regulator of ubiquitin-like proteins 1 | The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1 in the retina |
Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | |
Human | OSTM1 | 28962 | osteopetrosis associated transmembrane protein 1 | |
Human | DFNB31 | 25861 | deafness, autosomal recessive 31 | INFERRED, Score=800, UMLKSK CUI: C0456909 |
Human | TCIRG1 | 10312 | T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 | |
Human | PQBP1 | 10084 | polyglutamine binding protein 1 | |
Human | USH1C | 10083 | Usher syndrome 1C (autosomal recessive, severe) | INFERRED, Score=800, UMLKSK CUI: C0456909 |
Human | EIF2B5 | 8893 | eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa | Blindness may occur in affected infants |
Human | EIF2B2 | 8892 | eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa | Blindness may occur in affected infants |
Human | EIF2B3 | 8891 | eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa | Blindness may occur in affected infants |
Human | EIF2B4 | 8890 | eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa | Blindness may occur in affected infants |
Human | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit | INFERRED, Score=800, UMLKSK CUI: C0456909 |
Human | TNFSF11 | 8600 | tumor necrosis factor (ligand) superfamily, member 11 | |
Human | FZD4 | 8322 | frizzled family receptor 4 | |
Human | ALMS1 | 7840 | Alstrom syndrome 1 | |
Human | CLRN1 | 7401 | clarin 1 | INFERRED, Score=800, UMLKSK CUI: C0456909 |