retinal detachment Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_5327)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000541
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Genes

61 genes associated with the retinal detachment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAMTSL4 ADAMTS-like 4
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ATOH7 atonal homolog 7 (Drosophila)
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
BCOR BCL6 corepressor
BEST1 bestrophin 1
CAPN5 calpain 5
CBS cystathionine-beta-synthase
CHD7 chromodomain helicase DNA binding protein 7
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
COL11A1 collagen, type XI, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL9A2 collagen, type IX, alpha 2
FBN1 fibrillin 1
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FZD4 frizzled class receptor 4
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
IGFBP7 insulin-like growth factor binding protein 7
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IMPG1 interphotoreceptor matrix proteoglycan 1
ISPD isoprenoid synthase domain containing
KIF11 kinesin family member 11
LARGE like-glycosyltransferase
LRP2 low density lipoprotein receptor-related protein 2
LRP5 low density lipoprotein receptor-related protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
NDP Norrie disease (pseudoglioma)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
P3H2 prolyl 3-hydroxylase 2
PAX2 paired box 2
PAX6 paired box 6
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PRDM5 PR domain containing 5
PRPH2 peripherin 2 (retinal degeneration, slow)
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAI1 retinoic acid induced 1
RS1 retinoschisin 1
SAT1 spermidine/spermine N1-acetyltransferase 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM5 transmembrane protein 5
TSPAN12 tetraspanin 12
VCAN versican
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
YAP1 Yes-associated protein 1
ZNF469 zinc finger protein 469