Vitelliform Macular Dystrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0339510
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Genes

70 genes associated with the disease Vitelliform Macular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ACD adrenocortical dysplasia homolog (mouse)
ACTB actin, beta
ACVRL1 activin A receptor type II-like 1
ADAR adenosine deaminase, RNA-specific
ALOX12 arachidonate 12-lipoxygenase
ALOX15 arachidonate 15-lipoxygenase
ALPP alkaline phosphatase, placental
ARSF arylsulfatase F
ASRGL1 asparaginase like 1
ATRNL1 attractin-like 1
BEST1 bestrophin 1
BMP6 bone morphogenetic protein 6
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
C1QTNF5 C1q and tumor necrosis factor related protein 5
C5ORF42 chromosome 5 open reading frame 42
CCL27 chemokine (C-C motif) ligand 27
COL18A1 collagen, type XVIII, alpha 1
CPED1 cadherin-like and PC-esterase domain containing 1
CREB1 cAMP responsive element binding protein 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
DDB1 damage-specific DNA binding protein 1, 127kDa
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DMD dystrophin
ERBB2 erb-b2 receptor tyrosine kinase 2
FGF3 fibroblast growth factor 3
FTH1 ferritin, heavy polypeptide 1
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GUCA1A guanylate cyclase activator 1A (retina)
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPB3 heat shock 27kDa protein 3
IMPG1 interphotoreceptor matrix proteoglycan 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INTS2 integrator complex subunit 2
MAK male germ cell-associated kinase
MFRP membrane frizzled-related protein
MS4A2 membrane-spanning 4-domains, subfamily A, member 2
NAT10 N-acetyltransferase 10 (GCN5-related)
NOC2L nucleolar complex associated 2 homolog (S. cerevisiae)
NOS1 nitric oxide synthase 1 (neuronal)
PDLIM3 PDZ and LIM domain 3
PITPNM3 PITPNM family member 3
PLXNA2 plexin A2
PRL prolactin
PRPH2 peripherin 2 (retinal degeneration, slow)
PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4
PTH parathyroid hormone
PYGM phosphorylase, glycogen, muscle
RGN regucalcin
RHO rhodopsin
ROM1 retinal outer segment membrane protein 1
RPE ribulose-5-phosphate-3-epimerase
RSPO3 R-spondin 3
SALL1 spalt-like transcription factor 1
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin)
SHBG sex hormone-binding globulin
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLPI secretory leukocyte peptidase inhibitor
SRF serum response factor (c-fos serum response element-binding transcription factor)
SRSF1 serine/arginine-rich splicing factor 1
SRSF2 serine/arginine-rich splicing factor 2
SRSF5 serine/arginine-rich splicing factor 5
SRSF6 serine/arginine-rich splicing factor 6
TIMP2 TIMP metallopeptidase inhibitor 2
TTN titin
UHMK1 U2AF homology motif (UHM) kinase 1
UTRN utrophin
WNT16 wingless-type MMTV integration site family, member 16