abnormal lens fiber morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the elongated cells of the crystalline lens of the eye (Mammalian Phenotype Ontology, MP_0002840)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002840
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Genes

41 gene mutations causing the abnormal lens fiber morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABI2 abl-interactor 2
AGPS alkylglycerone phosphate synthase
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ANK2 ankyrin 2, neuronal
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATF4 activating transcription factor 4
BCAR3 breast cancer anti-estrogen resistance 3
BFSP1 beaded filament structural protein 1, filensin
BFSP2 beaded filament structural protein 2, phakinin
BIN3 bridging integrator 3
CPOX coproporphyrinogen oxidase
CRYAA crystallin, alpha A
CRYAB crystallin, alpha B
CRYBB2 crystallin, beta B2
CRYGA crystallin, gamma A
CRYGB crystallin, gamma B
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CRYGS crystallin, gamma S
FGF10 fibroblast growth factor 10
FOXE3 forkhead box E3
GJA8 gap junction protein, alpha 8, 50kDa
GJE1 gap junction protein, epsilon 1, 23kDa
HSF4 heat shock transcription factor 4
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LIM2 lens intrinsic membrane protein 2, 19kDa
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MIP major intrinsic protein of lens fiber
MYH9 myosin, heavy chain 9, non-muscle
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NRCAM neuronal cell adhesion molecule
PAX6 paired box 6
PEX7 peroxisomal biogenesis factor 7
PXDN peroxidasin
PYGO2 pygopus family PHD finger 2
RB1 retinoblastoma 1
SEP15 15 kDa selenoprotein
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SREBF2 sterol regulatory element binding transcription factor 2
TBC1D20 TBC1 domain family, member 20
TDRD7 tudor domain containing 7