eyelids open at birth Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description open eyes instead of closed at perinatal stage; failure of the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye to fuse completely together during development and an individual is born with the eye(s) uncovered leading to degrees of injury and blindness (Mammalian Phenotype Ontology, MP_0001302)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001302
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Genes

51 gene mutations causing the eyelids open at birth phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ADAM17 ADAM metallopeptidase domain 17
ALX1 ALX homeobox 1
ALX4 ALX homeobox 4
BARX2 BARX homeobox 2
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
CHUK conserved helix-loop-helix ubiquitous kinase
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DGKD diacylglycerol kinase, delta 130kDa
DHRS3 dehydrogenase/reductase (SDR family) member 3
DSC1 desmocollin 1
EDA ectodysplasin A
EGFR epidermal growth factor receptor
EYA1 EYA transcriptional coactivator and phosphatase 1
FBXO11 F-box protein 11
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FH fumarate hydratase
FOXC1 forkhead box C1
FOXL2 forkhead box L2
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
GAB1 GRB2-associated binding protein 1
GLI3 GLI family zinc finger 3
GRHL3 grainyhead-like 3 (Drosophila)
GRIP1 glutamate receptor interacting protein 1
HMGB1 high mobility group box 1
INHBB inhibin, beta B
JUN jun proto-oncogene
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LIMK2 LIM domain kinase 2
LMO4 LIM domain only 4
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MKKS McKusick-Kaufman syndrome
NFIB nuclear factor I/B
OSR2 odd-skipped related transciption factor 2
PLK2 polo-like kinase 2
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAD23B RAD23 homolog B (S. cerevisiae)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
RUNX2 runt-related transcription factor 2
SCRIB scribbled planar cell polarity protein
SIX1 SIX homeobox 1
SKI SKI proto-oncogene
SOX11 SRY (sex determining region Y)-box 11
TBX10 T-box 10
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TGFA transforming growth factor, alpha
VANGL2 VANGL planar cell polarity protein 2