Norrie Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. (Orphanet Rare Disease Ontology, Orphanet_649)
External Link https://www.disgenet.org/browser/0/1/0/C0266526
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Genes

51 genes associated with the disease Norrie Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AHR aryl hydrocarbon receptor
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
APOE apolipoprotein E
BCHE butyrylcholinesterase
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3
C9 complement component 9
CD38 CD38 molecule
CD59 CD59 molecule, complement regulatory protein
CD82 CD82 molecule
CEACAM3 carcinoembryonic antigen-related cell adhesion molecule 3
CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5
CEACAM7 carcinoembryonic antigen-related cell adhesion molecule 7
CMAS cytidine monophosphate N-acetylneuraminic acid synthetase
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
EFHC2 EF-hand domain (C-terminal) containing 2
EPHB2 EPH receptor B2
FZD4 frizzled class receptor 4
GCG glucagon
GRAP2 GRB2-related adaptor protein 2
HMCES 5-hydroxymethylcytosine (hmC) binding, ES cell-specific
IGF1 insulin-like growth factor 1 (somatomedin C)
IL18 interleukin 18
IL21 interleukin 21
IL22 interleukin 22
KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
KRAS Kirsten rat sarcoma viral oncogene homolog
LRP5 low density lipoprotein receptor-related protein 5
MAOA monoamine oxidase A
MAOB monoamine oxidase B
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK8 mitogen-activated protein kinase 8
MMP7 matrix metallopeptidase 7
MMP9 matrix metallopeptidase 9
NDP Norrie disease (pseudoglioma)
NLRP3 NLR family, pyrin domain containing 3
OAT ornithine aminotransferase
PLAU plasminogen activator, urokinase
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PRSS23 protease, serine, 23
PSG2 pregnancy specific beta-1-glycoprotein 2
REM1 RAS (RAD and GEM)-like GTP-binding 1
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
SOD1 superoxide dismutase 1, soluble
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SYP synaptophysin
TP53 tumor protein p53
TSPAN12 tetraspanin 12