vitelliform macular dystrophy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula. (Human Disease Ontology, DOID_0050661)
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Genes

69 genes co-occuring with the disease vitelliform macular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
BEST1 bestrophin 1 3.52197
BEST2 bestrophin 2 1.90428
BEST4 bestrophin 4 1.84408
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1.75868
PRPH2 peripherin 2 (retinal degeneration, slow) 1.71955
ROM1 retinal outer segment membrane protein 1 1.24819
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin) 1.23299
BEST3 bestrophin 3 1.19618
FEN1 flap structure-specific endonuclease 1 1.13332
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 1.12909
CRX cone-rod homeobox 1.04756
TIMP3 TIMP metallopeptidase inhibitor 3 0.930828
IMPG1 interphotoreceptor matrix proteoglycan 1 0.921736
RAB40AL RAB40A, member RAS oncogene family-like 0.869596
MITF microphthalmia-associated transcription factor 0.842163
SYT7 synaptotagmin VII 0.823308
SOX8 SRY (sex determining region Y)-box 8 0.808129
SRSF5 serine/arginine-rich splicing factor 5 0.801564
DDB1 damage-specific DNA binding protein 1, 127kDa 0.796232
OTX2 orthodenticle homeobox 2 0.778613
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 0.734622
C1ORF174 chromosome 1 open reading frame 174 0.728143
OTX1 orthodenticle homeobox 1 0.726524
PRPF3 pre-mRNA processing factor 3 0.715618
PRPF8 pre-mRNA processing factor 8 0.711183
GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2 0.701928
ANO1 anoctamin 1, calcium activated chloride channel 0.687091
C1QTNF5 C1q and tumor necrosis factor related protein 5 0.664372
EYS eyes shut homolog (Drosophila) 0.658026
PYGM phosphorylase, glycogen, muscle 0.633956
AGTR2 angiotensin II receptor, type 2 0.597961
MYRF myelin regulatory factor 0.57655
CLCA4 chloride channel accessory 4 0.573439
TRPM1 transient receptor potential cation channel, subfamily M, member 1 0.566054
RPE65 retinal pigment epithelium-specific protein 65kDa 0.552075
PLEC plectin 0.549359
APITD1 apoptosis-inducing, TAF9-like domain 1 0.545868
CAND2 cullin-associated and neddylation-dissociated 2 (putative) 0.537731
CLCA2 chloride channel accessory 2 0.530768
C2 complement component 2 0.513417
ELOVL4 ELOVL fatty acid elongase 4 0.507273
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 0.483604
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 0.482464
TFEB transcription factor EB 0.456732
SMPD2 sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 0.447311
SKAP2 src kinase associated phosphoprotein 2 0.446935
NR2E3 nuclear receptor subfamily 2, group E, member 3 0.445805
CRABP2 cellular retinoic acid binding protein 2 0.444676
SRSF2 serine/arginine-rich splicing factor 2 0.430768
CLCA1 chloride channel accessory 1 0.419892
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4 0.412405
PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme 0.369258
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 0.365932
HADH hydroxyacyl-CoA dehydrogenase 0.365562
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 0.352659
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 0.345308
PLIN2 perilipin 2 0.299812
USH2A Usher syndrome 2A (autosomal recessive, mild) 0.295132
SRSF1 serine/arginine-rich splicing factor 1 0.28616
MYO7A myosin VIIA 0.277227
RPGR retinitis pigmentosa GTPase regulator 0.264431
FTO fat mass and obesity associated 0.263368
SOX10 SRY (sex determining region Y)-box 10 0.243995
MMP11 matrix metallopeptidase 11 0.237009
MMP10 matrix metallopeptidase 10 0.22937
C1QBP complement component 1, q subcomponent binding protein 0.228679
CFB complement factor B 0.21974
SNCA synuclein, alpha (non A4 component of amyloid precursor) 0.217693
GLS glutaminase 0.203933