cataracts Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001304
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Genes

125 gene mutations causing the cataracts phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
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
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
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
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRD4 bromodomain containing 4
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CASP3 caspase 3, 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
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
CPOX coproporphyrinogen oxidase
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
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DCTN5 dynactin 5 (p25)
DMD dystrophin
DNASE2B deoxyribonuclease II beta
DOCK5 dedicator of cytokinesis 5
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
FGF10 fibroblast growth factor 10
FGF9 fibroblast growth factor 9
FHL1 four and a half LIM domains 1
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXE3 forkhead box E3
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
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
HIP1 huntingtin interacting protein 1
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
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
MAPT microtubule-associated protein tau
MBNL1 muscleblind-like splicing regulator 1
MCPH1 microcephalin 1
MIP major intrinsic protein of lens fiber
MITF microphthalmia-associated transcription factor
MYH9 myosin, heavy chain 9, non-muscle
MYO10 myosin X
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NCOA6 nuclear receptor coactivator 6
NDRG1 N-myc downstream regulated 1
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
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
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
RARB retinoic acid receptor, beta
RB1 retinoblastoma 1
RGN regucalcin
RPL24 ribosomal protein L24
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
SORD sorbitol dehydrogenase
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
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TDRD7 tudor domain containing 7
TGFA transforming growth factor, alpha
TMC1 transmembrane channel-like 1
TRIM45 tripartite motif containing 45
USP42 ubiquitin specific peptidase 42
ZIC3 Zic family member 3
ZNF182 zinc finger protein 182