abnormal retinal development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in any of the steps during embryogenesis that produce the nerve layer lining in the back of the eye which senses light, and creates impulses that travel through the optic nerve to the brain (Mammalian Phenotype Ontology, MP_0009772)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009772
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Genes

17 gene mutations causing the abnormal retinal development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CDKN2A cyclin-dependent kinase inhibitor 2A
E2F1 E2F transcription factor 1
FIGN fidgetin
LAMB2 laminin, beta 2 (laminin S)
MAB21L2 mab-21-like 2 (C. elegans)
MITF microphthalmia-associated transcription factor
MTA1 metastasis associated 1
MYD88 myeloid differentiation primary response 88
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
PAX6 paired box 6
PRPH2 peripherin 2 (retinal degeneration, slow)
RORB RAR-related orphan receptor B
RPL24 ribosomal protein L24
TICAM1 toll-like receptor adaptor molecule 1
TLR4 toll-like receptor 4
TP53BP2 tumor protein p53 binding protein 2
VSX2 visual system homeobox 2
Funding