cataract Gene Set

Dataset IMPC Knockout Mouse Phenotypes
Category disease or phenotype associations
Type phenotype
Description Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed) (Experimental Factor Ontology, EFO_0001059)
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Genes

305 gene knockouts causing the cataract phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

Symbol Name
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ACOXL acyl-CoA oxidase-like
ACTG2 actin, gamma 2, smooth muscle, enteric
ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12
ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif, 14
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
ADAMTSL4 ADAMTS-like 4
ADGRL4 adhesion G protein-coupled receptor L4
ADNP2 ADNP homeobox 2
AGAP9 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9
AGBL1 ATP/GTP binding protein-like 1
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AKAP13 A kinase (PRKA) anchor protein 13
ALAS1 5'-aminolevulinate synthase 1
ALDH1L1 aldehyde dehydrogenase 1 family, member L1
ANGPTL1 angiopoietin-like 1
AP1G1 adaptor-related protein complex 1, gamma 1 subunit
APCDD1 adenomatosis polyposis coli down-regulated 1
APTX aprataxin
ARF3 ADP-ribosylation factor 3
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATG14 autophagy related 14
ATG4B autophagy related 4B, cysteine peptidase
ATL3 atlastin GTPase 3
ATN1 atrophin 1
B4GALT5 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5
BAG5 BCL2-associated athanogene 5
BLTP1 bridge-like lipid transfer protein family member 1
BMS1 BMS1 ribosome biogenesis factor
BRD9 bromodomain containing 9
BTBD7 BTB (POZ) domain containing 7
BZW1 basic leucine zipper and W2 domains 1
C9ORF50 chromosome 9 open reading frame 50
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CALCOCO1 calcium binding and coiled-coil domain 1
CAMSAP3 calmodulin regulated spectrin-associated protein family, member 3
CAPN12 calpain 12
CAPZA1 capping protein (actin filament) muscle Z-line, alpha 1
CCDC25 coiled-coil domain containing 25
CDC14A cell division cycle 14A
CDC37L1 cell division cycle 37-like 1
CDK2AP2 cyclin-dependent kinase 2 associated protein 2
CDK5RAP3 CDK5 regulatory subunit associated protein 3
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CENPE centromere protein E, 312kDa
CEP135 centrosomal protein 135kDa
CEP43 centrosomal protein 43
CEP55 centrosomal protein 55kDa
CFAP206 cilia and flagella associated protein 206
CHCHD2P9 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 9
CHORDC1 cysteine and histidine-rich domain (CHORD) containing 1
CHP1 calcineurin-like EF-hand protein 1
CHSY1 chondroitin sulfate synthase 1
CIB3 calcium and integrin binding family member 3
CLCA2 chloride channel accessory 2
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CLPTM1 cleft lip and palate associated transmembrane protein 1
CLPTM1L CLPTM1-like
COL16A1 collagen, type XVI, alpha 1
COL4A4 collagen, type IV, alpha 4
COX20 COX20 cytochrome c oxidase assembly factor
CPSF7 cleavage and polyadenylation specific factor 7, 59kDa
CRMP1 collapsin response mediator protein 1
CSTA cystatin A (stefin A)
CSTF3 cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa
CYB561A3 cytochrome b561 family, member A3
CYB5R3 cytochrome b5 reductase 3
CYBA cytochrome b-245, alpha polypeptide
CYP4F8 cytochrome P450, family 4, subfamily F, polypeptide 8
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
DENND5B DENN/MADD domain containing 5B
DHX15 DEAH (Asp-Glu-Ala-His) box helicase 15
DIP2C DIP2 disco-interacting protein 2 homolog C (Drosophila)
DISC1 disrupted in schizophrenia 1
DRG1 developmentally regulated GTP binding protein 1
DSG1 desmoglein 1
DYNC1LI1 dynein, cytoplasmic 1, light intermediate chain 1
EBNA1BP2 EBNA1 binding protein 2
EEF1D eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)
ELL2 elongation factor, RNA polymerase II, 2
EPC2 enhancer of polycomb homolog 2 (Drosophila)
EPPIN-WFDC6 EPPIN-WFDC6 readthrough
F3 coagulation factor III (thromboplastin, tissue factor)
FA2H fatty acid 2-hydroxylase
FAM135A family with sequence similarity 135, member A
FAM162A family with sequence similarity 162, member A
FAM216A family with sequence similarity 216, member A
FBXO5 F-box protein 5
FGF10 fibroblast growth factor 10
FGF9 fibroblast growth factor 9
FGFR1OP2 FGFR1 oncogene partner 2
FNDC3A fibronectin type III domain containing 3A
FRMD6 FERM domain containing 6
FYB1 FYN binding protein 1
FYCO1 FYVE and coiled-coil domain containing 1
GALK2 galactokinase 2
GALNT13 polypeptide N-acetylgalactosaminyltransferase 13
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GDI2 GDP dissociation inhibitor 2
GGPS1 geranylgeranyl diphosphate synthase 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPCPD1 glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)
GPSM2 G-protein signaling modulator 2
GRIK3 glutamate receptor, ionotropic, kainate 3
GRIK5 glutamate receptor, ionotropic, kainate 5
GRM6 glutamate receptor, metabotropic 6
GZF1 GDNF-inducible zinc finger protein 1
HACD3 3-hydroxyacyl-CoA dehydratase 3
HAGH hydroxyacylglutathione hydrolase
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HIPK4 homeodomain interacting protein kinase 4
HK3 hexokinase 3 (white cell)
HMBOX1 homeobox containing 1
HMCN1 hemicentin 1
HNF4A hepatocyte nuclear factor 4, alpha
HOOK2 hook microtubule-tethering protein 2
HPSE2 heparanase 2 (inactive)
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSF4 heat shock transcription factor 4
IFIT3 interferon-induced protein with tetratricopeptide repeats 3
IGHMBP2 immunoglobulin mu binding protein 2
IK IK cytokine, down-regulator of HLA II
IL36RN interleukin 36 receptor antagonist
IL9 interleukin 9
IL9R interleukin 9 receptor
ILKAP integrin-linked kinase-associated serine/threonine phosphatase
INPP5A inositol polyphosphate-5-phosphatase, 40kDa
INTS8 integrator complex subunit 8
KATNAL1 katanin p60 subunit A-like 1
KATNIP katanin interacting protein
KCTD1 potassium channel tetramerization domain containing 1
KDM8 lysine (K)-specific demethylase 8
KHSRP KH-type splicing regulatory protein
KLK13 kallikrein-related peptidase 13
L2HGDH L-2-hydroxyglutarate dehydrogenase
LCP2 lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)
LGALS13 lectin, galactoside-binding, soluble, 13
LRPAP1 low density lipoprotein receptor-related protein associated protein 1
LSM1 LSM1, U6 small nuclear RNA associated
MACROD1 MACRO domain containing 1
MAPK6 mitogen-activated protein kinase 6
MAST3 microtubule associated serine/threonine kinase 3
MAU2 MAU2 sister chromatid cohesion factor
MC5R melanocortin 5 receptor
MEI4 meiosis-specific 4 homolog (S. cerevisiae)
METTL5 methyltransferase like 5
MIGA1 mitoguardin 1
MIPOL1 mirror-image polydactyly 1
MIR204 microRNA 204
MLH1 mutL homolog 1
MLLT6 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6
MMP2 matrix metallopeptidase 2
MON1A MON1 secretory trafficking family member A
MRGPRX4 MAS-related GPR, member X4
MRPL36 mitochondrial ribosomal protein L36
MSH3 mutS homolog 3
MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
MYDGF myeloid-derived growth factor
MYLK4 myosin light chain kinase family, member 4
MYO10 myosin X
MYO15A myosin XVA
NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2
NANS N-acetylneuraminic acid synthase
NDFIP2 Nedd4 family interacting protein 2
NELL1 NEL-like 1 (chicken)
NIFK nucleolar protein interacting with the FHA domain of MKI67
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NOTUM notum pectinacetylesterase homolog (Drosophila)
NT5E 5'-nucleotidase, ecto (CD73)
NUP210 nucleoporin 210kDa
NUTF2 nuclear transport factor 2
OLFML2B olfactomedin-like 2B
OPLAH 5-oxoprolinase (ATP-hydrolysing)
OSBP oxysterol binding protein
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PAIP1 poly(A) binding protein interacting protein 1
PCSK6 proprotein convertase subtilisin/kexin type 6
PDHX pyruvate dehydrogenase complex, component X
PDLIM7 PDZ and LIM domain 7 (enigma)
PDP2 pyruvate dehyrogenase phosphatase catalytic subunit 2
PEBP1 phosphatidylethanolamine binding protein 1
PEX6 peroxisomal biogenesis factor 6
PGBD1 piggyBac transposable element derived 1
PHF20L1 PHD finger protein 20-like 1
PHKG1 phosphorylase kinase, gamma 1 (muscle)
PHRF1 PHD and ring finger domains 1
PJA1 praja ring finger 1, E3 ubiquitin protein ligase
PLA2G10 phospholipase A2, group X
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLEKHA5 pleckstrin homology domain containing, family A member 5
PLXNA4 plexin A4
POLR1C polymerase (RNA) I polypeptide C, 30kDa
PPAT phosphoribosyl pyrophosphate amidotransferase
PPIE peptidylprolyl isomerase E (cyclophilin E)
PRC1 protein regulator of cytokinesis 1
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRPF39 pre-mRNA processing factor 39
PRPF40A PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)
PRR5-ARHGAP8 PRR5-ARHGAP8 readthrough
PRSS8 protease, serine, 8
PSMA8 proteasome (prosome, macropain) subunit, alpha type, 8
PTP4A1 protein tyrosine phosphatase type IVA, member 1
PTPN18 protein tyrosine phosphatase, non-receptor type 18 (brain-derived)
PTPRK protein tyrosine phosphatase, receptor type, K
PUDP pseudouridine 5'-phosphatase
RAB35 RAB35, member RAS oncogene family
RAB39B RAB39B, member RAS oncogene family
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM20 RNA binding motif protein 20
RBM25 RNA binding motif protein 25
RCAN1 regulator of calcineurin 1
REPS2 RALBP1 associated Eps domain containing 2
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RNASEH2A ribonuclease H2, subunit A
RNF135 ring finger protein 135
RNF157 ring finger protein 157
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNF43 ring finger protein 43
RNPEPL1 arginyl aminopeptidase (aminopeptidase B)-like 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RTN4RL2 reticulon 4 receptor-like 2
RTTN rotatin
S100A1 S100 calcium binding protein A1
S100A3 S100 calcium binding protein A3
SACK1B scaffolding CK1 anchoring protein B
SARNP SAP domain containing ribonucleoprotein
SCAMP2 secretory carrier membrane protein 2
SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
SEMA4D sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D
SEPTIN11 septin 11
SEPTIN14 septin 14
SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SHPRH SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase
SKIC3 SKI3 subunit of superkiller complex
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC2A5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5
SLC30A2 solute carrier family 30 (zinc transporter), member 2
SLC30A4 solute carrier family 30 (zinc transporter), member 4
SLC36A1 solute carrier family 36 (proton/amino acid symporter), member 1
SLC37A2 solute carrier family 37 (glucose-6-phosphate transporter), member 2
SLC44A3 solute carrier family 44, member 3
SLFN14 schlafen family member 14
SORD sorbitol dehydrogenase
SOWAHA sosondowah ankyrin repeat domain family member A
SOX21 SRY (sex determining region Y)-box 21
SPRED2 sprouty-related, EVH1 domain containing 2
SPRYD3 SPRY domain containing 3
SPTAN1 spectrin, alpha, non-erythrocytic 1
SPTLC3 serine palmitoyltransferase, long chain base subunit 3
SPZ1 spermatogenic leucine zipper 1
SRR serine racemase
SSR1 signal sequence receptor, alpha
ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3
ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6
STIM1 stromal interaction molecule 1
STIM2 stromal interaction molecule 2
TAAR8 trace amine associated receptor 8
TAGAP T-cell activation RhoGTPase activating protein
TBC1D8 TBC1 domain family, member 8 (with GRAM domain)
TBCE tubulin folding cofactor E
TDP1 tyrosyl-DNA phosphodiesterase 1
TEX2 testis expressed 2
TGDS TDP-glucose 4,6-dehydratase
THBS2 thrombospondin 2
TLE3 transducin-like enhancer of split 3
TMEM104 transmembrane protein 104
TMEM11 transmembrane protein 11
TMEM145 transmembrane protein 145
TMEM225 transmembrane protein 225
TMEM74 transmembrane protein 74
TNK2 tyrosine kinase, non-receptor, 2
TOP2A topoisomerase (DNA) II alpha 170kDa
TP53INP2 tumor protein p53 inducible nuclear protein 2
TPK1 thiamin pyrophosphokinase 1
TRAF7 TNF receptor-associated factor 7, E3 ubiquitin protein ligase
TRMT9B tRNA methyltransferase 9B (putative)
TSPAN32 tetraspanin 32
TTYH3 tweety family member 3
TULP2 tubby like protein 2
UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1
UBL7 ubiquitin-like 7
UBN2 ubinuclein 2
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)
UGGT1 UDP-glucose glycoprotein glucosyltransferase 1
ULK3 unc-51 like kinase 3
UQCRB ubiquinol-cytochrome c reductase binding protein
USP53 ubiquitin specific peptidase 53
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
VPS4A vacuolar protein sorting 4 homolog A (S. cerevisiae)
WARS1 tryptophanyl-tRNA synthetase 1
XBP1 X-box binding protein 1
XPO4 exportin 4
YAE1 YAE1 maturation factor of ABCE1
ZBTB16 zinc finger and BTB domain containing 16
ZC3H11B zinc finger CCCH-type containing 11B pseudogene
ZDHHC14 zinc finger, DHHC-type containing 14
ZFP91 ZFP91 zinc finger protein
ZNF182 zinc finger protein 182
ZNF629 zinc finger protein 629
ZSWIM6 zinc finger, SWIM-type containing 6