Human | VSX2 | 338917 | visual system homeobox 2 | INFERRED, Score=800, UMLKSK CUI: C0017601 |
Human | WDR36 | 134430 | WD repeat domain 36 | role in etiology of both high- and low-pressure glaucoma The occurrence of several rare putative disease-causing variants in patients with glaucoma suggests that WDR36 may be a minor disease-causing gene in glaucoma, at least in the German population One nonsynonymous variant, p.S664L, and association of allelic variants (p.I264V and c.1965-30A>G) in WDR36 and their prevalence in unrelated Japanese patients with high tension glaucoma (HTG) suggest they are probably involved in pathogenesis of HTG The association of WDR36 sequence variants with more severe disease in affected individuals suggests that defects in the WDR36 gene can contribute to POAG and that WDR36 may be a glaucoma modifier gene |
Human | MFRP | 83552 | membrane frizzled-related protein | INFERRED, Score=800, UMLKSK CUI: C0017601 |
Human | SBF2 | 81846 | SET binding factor 2 | Glaucoma, open-angle, early-onset (occurs in patients with nonsense or truncating mutations in the SBF2 gene) Patients with glaucoma have nonsense or truncating SBF2 mutations ({607697.0002}) A loss-of-function mutation in SBF2/MTMR13 causes CMT4B with early-onset glaucoma, possibly by degradation of SBF2 mRNA thru the nonsense mutation decay pathway Glaucoma may precede development of neuropathy Mutations in MTMR13 were associated with a syndrome of demyelinating Charcot-Marie-Tooth disease and early onset glaucoma; MTMR13 may be important for the development of both the peripheral nerves and the trabeculum meshwork |
Human | ADAMTS10 | 81794 | ADAM metallopeptidase with thrombospondin type 1 motif, 10 | |
Human | FKRP | 79147 | fukutin related protein | |
Human | NOD2 | 64127 | nucleotide-binding oligomerization domain containing 2 | |
Human | BTNL2 | 56244 | butyrophilin-like 2 (MHC class II associated) | |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | |
Human | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
Human | AGGF1 | 55109 | angiogenic factor with G patch and FHA domains 1 | |
Human | VSX1 | 30813 | visual system homeobox 1 | |
Human | POMT2 | 29954 | protein-O-mannosyltransferase 2 | |
Human | OCLM | 10896 | oculomedin | There was no evidence that the oculomedin gene participates in the etiology of glaucoma |
Human | VAMP5 | 10791 | vesicle-associated membrane protein 5 | Title:VAMP5 and VAMP8 are most likely not involved in primary open-angle glaucoma.|Association:Not Found|Conclusion:Our findings indicate that VAMP5 and VAMP8 are not involved in POAG in the Dutch population. |
Human | EBP | 10682 | emopamil binding protein (sterol isomerase) | |
Human | POMT1 | 10585 | protein-O-mannosyltransferase 1 | |
Human | ANGPTL7 | 10218 | angiopoietin-like 7 | Induction of ANGPTL7 secretion by glaucoma stimuli and increased concentration of ANGPTL7 in glaucomatous AH suggest that ANGPTL7 is overexpressed in glaucoma |
Human | OPTN | 10133 | optineurin | Click here to display 9 evidence detail records. |
Human | RECQL4 | 9401 | RecQ protein-like 4 | |
Human | LARGE | 9215 | like-glycosyltransferase | |
Human | VAMP8 | 8673 | vesicle-associated membrane protein 8 | Title:VAMP5 and VAMP8 are most likely not involved in primary open-angle glaucoma.|Association:Not Found|Conclusion:Our findings indicate that VAMP5 and VAMP8 are not involved in POAG in the Dutch population. |
Human | SLC4A4 | 8671 | solute carrier family 4 (sodium bicarbonate cotransporter), member 4 | |
Human | PEX3 | 8504 | peroxisomal biogenesis factor 3 | |
Human | NCK2 | 8440 | NCK adaptor protein 2 | Results point to NCK2 as a disease candidate gene and further supports the GLC1B locus as an important genomic region that is associated with the genetic predisposition to glaucoma |