visual field defect Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001123
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Genes

84 genes associated with the visual field defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ADGRV1 adhesion G protein-coupled receptor V1
BEST1 bestrophin 1
BTD biotinidase
C12ORF65 chromosome 12 open reading frame 65
C1QTNF5 C1q and tumor necrosis factor related protein 5
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CDH23 cadherin-related 23
CERKL ceramide kinase-like
CHM choroideremia (Rab escort protein 1)
CIB2 calcium and integrin binding family member 2
CLCN2 chloride channel, voltage-sensitive 2
CLRN1 clarin 1
CNGB1 cyclic nucleotide gated channel beta 1
COL4A1 collagen, type IV, alpha 1
COX1
COX2
COX3
CRX cone-rod homeobox
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
DFNB31 deafness, autosomal recessive 31
EYS eyes shut homolog (Drosophila)
FAM161A family with sequence similarity 161, member A
FGFR3 fibroblast growth factor receptor 3
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FXN frataxin
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HARS histidyl-tRNA synthetase
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG1 interphotoreceptor matrix proteoglycan 1
JAK2 Janus kinase 2
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
MFN2 mitofusin 2
MLH1 mutL homolog 1
MPL MPL proto-oncogene, thrombopoietin receptor
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MT-CYB cytochrome b
MT-ND2 MTND2
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MYO7A myosin VIIA
ND1
NR2F1 nuclear receptor subfamily 2, group F, member 1
OPA1 optic atrophy 1 (autosomal dominant)
PCDH15 protocadherin-related 15
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDZD7 PDZ domain containing 7
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
RAB28 RAB28, member RAS oncogene family
RBP3 retinol binding protein 3, interstitial
RGR retinal G protein coupled receptor
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
SH3BP2 SH3-domain binding protein 2
SLC7A14 solute carrier family 7, member 14
SOST sclerostin
SPATA7 spermatogenesis associated 7
TCF12 transcription factor 12
THPO thrombopoietin
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TMEM126A transmembrane protein 126A
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VCAN versican