abnormal lens morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the transparent structure of the eye responsible for focusing light rays (Mammalian Phenotype Ontology, MP_0001303)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001303
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Genes

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

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABI2 abl-interactor 2
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACT actin-like protein (ACT) gene
ADAM17 ADAM metallopeptidase domain 17
AFF1 AF4/FMR2 family, member 1
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPS alkylglycerone phosphate synthase
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ANK2 ankyrin 2, neuronal
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APAF1 apoptotic peptidase activating factor 1
ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATF4 activating transcription factor 4
ATRAID all-trans retinoic acid-induced differentiation factor
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
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRD1 bromodomain containing 1
BRD4 bromodomain containing 4
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP6 caspase 6, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CDC14B cell division cycle 14B
CDH23 cadherin-related 23
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2A cyclin-dependent kinase inhibitor 2A
CEP41 centrosomal protein 41kDa
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A5 collagen, type IV, alpha 5
CPOX coproporphyrinogen oxidase
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
CRYAA crystallin, alpha A
CRYAB crystallin, alpha B
CRYBA1 crystallin, beta A1
CRYBA2 crystallin, beta A2
CRYBB2 crystallin, beta B2
CRYGA crystallin, gamma A
CRYGB crystallin, gamma B
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CRYGS crystallin, gamma S
CSK c-src tyrosine kinase
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DCTN5 dynactin 5 (p25)
DLG1 discs, large homolog 1 (Drosophila)
DMD dystrophin
DNASE2B deoxyribonuclease II beta
DOCK5 dedicator of cytokinesis 5
DPP9 dipeptidyl-peptidase 9
DSG1 desmoglein 1
DSTN destrin (actin depolymerizing factor)
EDAR ectodysplasin A receptor
EGFR epidermal growth factor receptor
EHD1 EH-domain containing 1
EPHA2 EPH receptor A2
FABP3 fatty acid binding protein 3, muscle and heart
FAM134C family with sequence similarity 134, member C
FAT1 FAT atypical cadherin 1
FBXO47 F-box protein 47
FGF10 fibroblast growth factor 10
FGF9 fibroblast growth factor 9
FHL1 four and a half LIM domains 1
FIGN fidgetin
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXE3 forkhead box E3
GAS1 growth arrest-specific 1
GGT1 gamma-glutamyltransferase 1
GJA1 gap junction protein, alpha 1, 43kDa
GJA8 gap junction protein, alpha 8, 50kDa
GJE1 gap junction protein, epsilon 1, 23kDa
GLRX glutaredoxin (thioltransferase)
GMNN geminin, DNA replication inhibitor
GNPAT glyceronephosphate O-acyltransferase
GPR161 G protein-coupled receptor 161
GPX1 glutathione peroxidase 1
GRIP1 glutamate receptor interacting protein 1
GSTA3 glutathione S-transferase alpha 3
HIP1 huntingtin interacting protein 1
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSF4 heat shock transcription factor 4
IGF2 insulin-like growth factor 2
KLKB1 kallikrein B, plasma (Fletcher factor) 1
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LHX2 LIM homeobox 2
LIM2 lens intrinsic membrane protein 2, 19kDa
LMX1B LIM homeobox transcription factor 1, beta
MAB21L1 mab-21-like 1 (C. elegans)
MAB21L2 mab-21-like 2 (C. elegans)
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAPT microtubule-associated protein tau
MBNL1 muscleblind-like splicing regulator 1
MCPH1 microcephalin 1
MED1 mediator complex subunit 1
MEIS1 Meis homeobox 1
MIP major intrinsic protein of lens fiber
MITF microphthalmia-associated transcription factor
MSX2 msh homeobox 2
MYBBP1A MYB binding protein (P160) 1a
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH9 myosin, heavy chain 9, non-muscle
MYO10 myosin X
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NCAPH non-SMC condensin I complex, subunit H
NCOA6 nuclear receptor coactivator 6
NDRG1 N-myc downstream regulated 1
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NID1 nidogen 1
NKIRAS2 NFKB inhibitor interacting Ras-like 2
NOV nephroblastoma overexpressed
NR1D2 nuclear receptor subfamily 1, group D, member 2
NRCAM neuronal cell adhesion molecule
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NUBP1 nucleotide binding protein 1
OAT ornithine aminotransferase
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
PATL2 protein associated with topoisomerase II homolog 2 (yeast)
PAX6 paired box 6
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PEX7 peroxisomal biogenesis factor 7
PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
PKNOX1 PBX/knotted 1 homeobox 1
POU2F1 POU class 2 homeobox 1
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PROX1 prospero homeobox 1
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL3 poliovirus receptor-related 3
PXDN peroxidasin
PYGO2 pygopus family PHD finger 2
RAB23 RAB23, member RAS oncogene family
RARB retinoic acid receptor, beta
RAX retina and anterior neural fold homeobox
RB1 retinoblastoma 1
RDH10 retinol dehydrogenase 10 (all-trans)
RGN regucalcin
RPL24 ribosomal protein L24
RXRA retinoid X receptor, alpha
RYBP RING1 and YY1 binding protein
SEP15 15 kDa selenoprotein
SETMAR SET domain and mariner transposase fusion gene
SIRT1 sirtuin 1
SIX5 SIX homeobox 5
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC30A4 solute carrier family 30 (zinc transporter), member 4
SMAD2 SMAD family member 2
SORD sorbitol dehydrogenase
SOX1 SRY (sex determining region Y)-box 1
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPNS2 spinster homolog 2 (Drosophila)
SREBF2 sterol regulatory element binding transcription factor 2
TBC1D20 TBC1 domain family, member 20
TBC1D32 TBC1 domain family, member 32
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TDRD7 tudor domain containing 7
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFA transforming growth factor, alpha
TGFB2 transforming growth factor, beta 2
TMC1 transmembrane channel-like 1
TRIM45 tripartite motif containing 45
USP42 ubiquitin specific peptidase 42
VSX2 visual system homeobox 2
ZIC3 Zic family member 3
ZNF182 zinc finger protein 182
ZNRF3 zinc and ring finger 3