RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Adamtsl4
ADAMTS-like 4
ISS
MouseDO
NCBI chr 2:197,803,572...197,815,058
Ensembl chr 2:197,803,584...197,814,808
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C1qtnf5
C1q and TNF related 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16123441
NCBI chr 8:48,443,515...48,445,639
Ensembl chr 8:48,443,767...48,445,637
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Siah2
siah E3 ubiquitin protein ligase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24282676
NCBI chr 2:148,874,151...148,891,900
Ensembl chr 2:148,874,151...148,891,900
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Clpb
caseinolytic mitochondrial matrix peptidase chaperone subunit B
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
OMIM ClinVar
PMID:25595726 PMID:25597510 PMID:25597511 PMID:25650066 PMID:25741868 PMID:26916670 PMID:27290639 PMID:28492532 PMID:28554332 PMID:28687938 PMID:32313153
NCBI chr 1:166,739,372...166,866,095
Ensembl chr 1:166,739,532...166,866,107
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Dcdc5
doublecortin domain containing 5
ISO
ClinVar Annotator: match by term: Aniridia 1
ClinVar
PMID:10737978 PMID:11284764 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532
NCBI chr 3:97,207,500...97,435,067
Ensembl chr 3:97,256,881...97,433,651
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Dnajc24
DnaJ heat shock protein family (Hsp40) member C24
ISO
ClinVar Annotator: match by term: Aniridia 1
ClinVar
PMID:10737978 PMID:11284764 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532
NCBI chr 3:96,025,388...96,065,765
Ensembl chr 3:96,025,396...96,065,711
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Aniridia 1
ClinVar
PMID:10737978 PMID:11284764 PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:16098226 PMID:17630404 PMID:18483559 PMID:24138039 PMID:24290376 PMID:25741868 PMID:26661695 PMID:27124303 PMID:27431685 PMID:28321846 PMID:28492532 PMID:29618921
NCBI chr 3:95,733,810...95,954,987
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Immp1l
inner mitochondrial membrane peptidase subunit 1
ISO
ClinVar Annotator: match by term: Aniridia 1
ClinVar
PMID:10737978 PMID:11284764 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532
NCBI chr 3:95,955,126...96,024,316
Ensembl chr 3:95,959,703...96,024,836
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Pax6
paired box 6
ISO
ClinVar Annotator: match by term: Aniridia 1 ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy
OMIM ClinVar
PMID:1251879 PMID:1302030 PMID:1954207 PMID:6988567 PMID:7550230 PMID:7666404 PMID:7951315 PMID:8111279 PMID:8111379 PMID:8364574 PMID:8640214 PMID:8689689 PMID:9138149 PMID:9482572 PMID:9651515 PMID:9727514 PMID:9792406 PMID:9931324 PMID:10234503 PMID:10737978 PMID:10887930 PMID:11284764 PMID:11309364 PMID:11431688 PMID:11479730 PMID:11553050 PMID:11826019 PMID:12015275 PMID:12552561 PMID:12634864 PMID:12721955 PMID:12731001 PMID:12868034 PMID:14561779 PMID:14744876 PMID:15086958 PMID:15579687 PMID:15846561 PMID:15889018 PMID:16098226 PMID:16493447 PMID:16712695 PMID:17148041 PMID:17406642 PMID:17417613 PMID:17568989 PMID:17595013 PMID:17630404 PMID:18241071 PMID:18483559 PMID:18776953 PMID:19218613 PMID:19862335 PMID:19876904 PMID:19898691 PMID:20054790 PMID:20577777 PMID:21397818 PMID:21423868 PMID:21848007 PMID:21850189 PMID:22171686 PMID:22361317 PMID:22509105 PMID:22692063 PMID:23734086 PMID:23761016 PMID:24138039 PMID:24390526 PMID:24737507 PMID:25678763 PMID:25741868 PMID:26535646 PMID:26661695 PMID:26694549 PMID:26849621 PMID:27081502 PMID:27124303 PMID:27307692 PMID:27431685 PMID:27455012 PMID:27463523 PMID:28321846 PMID:28488383 PMID:28492532 PMID:29217025 PMID:29618921 PMID:29780932 PMID:32860008
NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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Rcn1
reticulocalbin 1
ISO
ClinVar Annotator: match by term: Aniridia 1
ClinVar
PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532
NCBI chr 3:95,404,863...95,419,110
Ensembl chr 3:95,406,284...95,418,679
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Aniridia 1
ClinVar
PMID:8975729 PMID:9090524 PMID:17630404 PMID:23349334 PMID:24138039 PMID:25741868 PMID:26661695 PMID:27124303 PMID:28492532
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Foxe3
forkhead box E3
ISO
DNA:nonsense mutation:cds:p.C240X (human)
RGD
PMID:16826526
RGD:1598956
NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
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Pitx3
paired-like homeodomain 3
ISO
DNA:nonsense mutation:cl444C>A(mouse) DNA:deletions:promoter, cds:
RGD
PMID:25347445 , PMID:11247667
RGD:11535071 , RGD:11535075
NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant
OMIM ClinVar
PMID:2005308 PMID:3495735 PMID:3536967 PMID:4750422 PMID:7738200 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8136837 PMID:8188302 PMID:8281141 PMID:8430317 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8941093 PMID:8988160 PMID:9150726 PMID:9338581 PMID:9338588 PMID:9399842 PMID:9401003 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10229672 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10633129 PMID:10679954 PMID:10694921 PMID:10930463 PMID:11068200 PMID:11139245 PMID:11524736 PMID:11700157 PMID:11748851 PMID:11826022 PMID:11875032 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12651868 PMID:12938084 PMID:14598350 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15598221 PMID:15880509 PMID:16220557 PMID:16222657 PMID:16273536 PMID:16333834 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18310266 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19396033 PMID:19533785 PMID:19618372 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20200614 PMID:20375004 PMID:20564469 PMID:20591885 PMID:20979188 PMID:21542060 PMID:21594992 PMID:21594993 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22539873 PMID:22772377 PMID:23133647 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23590259 PMID:23608731 PMID:23653584 PMID:23684891 PMID:23719250 PMID:23794388 PMID:23897642 PMID:24033266 PMID:24039054 PMID:24055113 PMID:24161884 PMID:24311428 PMID:24564502 PMID:24635535 PMID:24665001 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25203624 PMID:25326635 PMID:25504618 PMID:25519456 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25736269 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:25979247 PMID:26026792 PMID:26188975 PMID:26272055 PMID:26332594 PMID:26333736 PMID:26498160 PMID:26621581 PMID:26684006 PMID:26787436 PMID:26875674 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27353645 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27930701 PMID:28050602 PMID:28098115 PMID:28254189 PMID:28492532 PMID:28497567 PMID:28539832 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28941062 PMID:28973303 PMID:29168297 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29848614 PMID:29907982 PMID:30311386 PMID:30675029 PMID:30739908 PMID:31008308 PMID:31163209 PMID:31211626 PMID:31506931
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant
ClinVar
PMID:23218701 PMID:23401661 PMID:28492532
NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
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Adamtsl4
ADAMTS-like 4
ISO
ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive ClinVar Annotator: match by term: Ectopia lentis, isolated autosomal recessive
OMIM ClinVar
PMID:2056446 PMID:2377351 PMID:19200529 PMID:20141359 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162
NCBI chr 2:197,803,572...197,815,058
Ensembl chr 2:197,803,584...197,814,808
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Maf
MAF bZIP transcription factor
ISO
ClinVar Annotator: match by term: Cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation ClinVar Annotator: match by OMIM:601088
ClinVar OMIM
PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25865493
NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
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Adam10
ADAM metallopeptidase domain 10
IEP
mRNA:increased expression:retina
RGD
PMID:23941810
RGD:13703031
NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
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Agk
acylglycerol kinase
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801
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Akr1b1
aldo-keto reductase family 1 member B
susceptibility treatment
IDA ISO IMP
associated with Galactosemia CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.(AC)n (human) human gene in mouse model
CTD
PMID:21329682 PMID:21376710 PMID:25541468 PMID:28137510 , PMID:17444799 , PMID:24360973 , PMID:18452283 , PMID:21329682
RGD:1626083 , RGD:8548672 , RGD:8548671 , RGD:8548638
NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
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Aldh18a1
aldehyde dehydrogenase 18 family, member A1
ISO
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)
RGD
PMID:26320891
RGD:13434923
NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425 Ensembl chr 1:259,641,676...259,674,425
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Aldh3a1
aldehyde dehydrogenase 3 family, member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28038895
NCBI chr10:47,490,168...47,499,855
Ensembl chr10:47,490,153...47,499,876
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Anxa1
annexin A1
ISO IEP
DNA, protein:polymorphism: :p.R212I (mouse)
RGD
PMID:19003866 , PMID:1385581
RGD:7421556 , RGD:7421566
NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
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Atad3a
ATPase family, AAA domain containing 3A
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:30311386
NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16799786
NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
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Atp2b1
ATPase plasma membrane Ca2+ transporting 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15003327
NCBI chr 7:41,114,606...41,223,138
Ensembl chr 7:41,114,697...41,220,579
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B2m
beta-2 microglobulin
ISO
associated with Diabetic Nephropathies
RGD
PMID:12567748
RGD:2311237
NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
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Bcor
BCL6 co-repressor
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:24728327 PMID:26694549 PMID:28492532
NCBI chr X:11,570,155...11,692,022
Ensembl chr X:11,648,989...11,691,099
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Bfsp2
beaded filament structural protein 2
susceptibility
ISO
ClinVar Annotator: match by term: Cataract protein:missense mutation:exon:p.R287W (human)
ClinVar
PMID:10729115
RGD:1600516
NCBI chr 8:111,908,614...111,965,889
Ensembl chr 8:111,908,614...111,965,889
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Brca2
BRCA2, DNA repair associated
IAGP
DNA:nonsense mutation
RGD
PMID:16964288
RGD:1599505
NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
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Casp3
caspase 3
treatment
IEP
RGD
PMID:23508955
RGD:13782357
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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Casp9
caspase 9
treatment
IEP
RGD
PMID:23508955
RGD:13782357
NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
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Cat
catalase
no_association treatment
ISO IEP
protein:decreased activity:erythrocyte: protein:decreased activity:lens:
RGD
PMID:15295623 , PMID:11408722 , PMID:21635889
RGD:9068905 , RGD:9068911 , RGD:9068909
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Catsperd
cation channel sperm associated auxiliary subunit delta
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:30311386
NCBI chr 9:10,390,307...10,428,666
Ensembl chr 9:10,390,308...10,427,746
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Cck
cholecystokinin
IDA
associated with Diabetes Mellitus, Experimental
RGD
PMID:16989746
RGD:2313636
NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392
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Ccl11
C-C motif chemokine ligand 11
IEP
associated with Diabetes Mellitus, Type 1;protein:increased expression:serum
RGD
PMID:23049540
RGD:7248415
NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
IAGP
RGD
PMID:12036912
RGD:619590
NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
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Cdkn1bwe
cyclin-dependent kinase inhibitor 1B; white eye mutation
IAGP
RGD
PMID:17030811 , PMID:12036912
RGD:2293616 , RGD:619590
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Clock
clock circadian regulator
ISO
RGD
PMID:21149897
RGD:10401871
NCBI chr14:34,418,226...34,502,218
Ensembl chr14:34,446,616...34,502,218
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Col18a1
collagen type XVIII alpha 1 chain
ISO
ClinVar Annotator: match by term: Cataract
ClinVar
NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
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Col1a1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Lens opacity
ClinVar
PMID:25741868 PMID:30311386
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Col2a1
collagen type II alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8317498
NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Cryaa
crystallin, alpha A
IEP ISO IDA
Protein:altered localization:plasma membrane ClinVar Annotator: match by term: Congenital cataract protein:decreased expression:lens: CTD Direct Evidence: marker/mechanism Protein:increased modification
ClinVar CTD
PMID:9467006 PMID:17724170 PMID:17937925 PMID:18587492 PMID:22045060 PMID:22140512 PMID:22347476 PMID:23379525 PMID:25018622 PMID:25694240 PMID:26694549 PMID:28179137 PMID:28492532 , PMID:1424724 , PMID:19120020 , PMID:15042443
RGD:1600993 , RGD:13503352 , RGD:1600984
NCBI chr20:10,438,444...10,442,189
Ensembl chr20:10,438,444...10,442,187
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Cryab
crystallin, alpha B
ISO IEP
ClinVar Annotator: match by term: Congenital cataract protein:decreased expression:lens: CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:1560021 PMID:11577372 PMID:16483541 PMID:16793013 PMID:17116488 PMID:20171888 PMID:21920752 PMID:22106715 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25073507 PMID:25208129 PMID:25741868 PMID:26694549 PMID:26961874 PMID:28492532 , PMID:19120020
RGD:13503352
NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
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Cryba1
crystallin, beta A1
ISO
DNA:splice-site mutation:intron:c.215+1G>A (human) associated with Diabetes Mellitus, Type 1;mRNA,protein:increased expression:lens: DNA:splice-site mutation:intron:IVS3+1G>A(human) DNA:splice-site mutation:intron:IVS3+1G>T(human)
RGD
PMID:22919269 , PMID:24520233 , PMID:20142846 , PMID:21850182
RGD:10059634 , RGD:10059653 , RGD:10059642 , RGD:10059641
NCBI chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494
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Cryba4
crystallin, beta A4
IEP ISO
protein:decreased expression:lens ClinVar Annotator: match by term: Congenital cataract ClinVar Annotator: match by term: Cataract, congenital
ClinVar
PMID:26694549 PMID:28272538 PMID:28492532 , PMID:10726880
RGD:2303653
NCBI chr12:50,407,843...50,414,434
Ensembl chr12:50,407,843...50,414,432
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Crybb1
crystallin, beta B1
ISO
DNA:nonsense mutation:cds:p.G220X (human) ClinVar Annotator: match by term: Cataract, congenital CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital cataract
ClinVar CTD
PMID:12360425 PMID:26694549 PMID:28272538 , PMID:12360425
RGD:728217
NCBI chr12:50,390,939...50,404,550
Ensembl chr12:50,390,940...50,404,550
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Crybb2
crystallin, beta B2
susceptibility
ISO
congenital cerulean cataract type 2, OMIM:601547;DNA:nonsense mutation ClinVar Annotator: match by term: Lens opacity ClinVar Annotator: match by term: Congenital cataract DNA:nonsense mutation: :p.Q155X (human)
ClinVar
PMID:2240043 PMID:8812489 PMID:9158139 PMID:10634616 PMID:11424921 PMID:17234267 PMID:26694549 PMID:30311386 , PMID:9158139 , PMID:11424921
RGD:1601011 , RGD:734832
NCBI chr12:49,577,580...49,588,555
Ensembl chr12:49,578,633...49,588,555
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Crybb3
crystallin, beta B3
ISO
ClinVar Annotator: match by term: Congenital cataract ClinVar Annotator: match by term: Congenital nuclear cataract
ClinVar
PMID:15914629 PMID:25741868 PMID:26694549 PMID:28492532
NCBI chr12:49,564,991...49,571,008
Ensembl chr12:49,565,992...49,571,006
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Cryga
crystallin, gamma A
ISO ISS
ClinVar Annotator: match by term: Congenital cataract OMIM:601371
ClinVar MouseDO
NCBI chr 9:71,828,308...71,855,900
Ensembl chr 9:71,835,883...71,852,113 Ensembl chr 9:71,835,883...71,852,113
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Crygc
crystallin, gamma C
susceptibility
ISO
Coppock-like cataract, OMIM:604307;DNA:transversion:exon:225A>C CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital cataract
CTD ClinVar
PMID:10914683 PMID:11773036 PMID:24281366 PMID:26694549 , PMID:10521291
RGD:1601015
NCBI chr 9:71,786,246...71,788,281
Ensembl chr 9:71,786,248...71,788,281
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Crygd
crystallin, gamma D
TAS ISO
ClinVar Annotator: match by term: Congenital cataract CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cataract
ClinVar CTD
PMID:9927684 PMID:12011157 PMID:12676897 PMID:17724170 PMID:21827768 PMID:25403472 PMID:26694549 PMID:28474685 PMID:28492532 PMID:30242128 , PMID:7849105
RGD:1298817
NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323
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Crygs
crystallin, gamma S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16141006
NCBI chr11:81,796,891...81,802,172
Ensembl chr11:81,796,891...81,802,172
G
Cth
cystathionine gamma-lyase
IDA
RGD
PMID:15683713
RGD:1600763
NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
G
Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:7915755 PMID:10406988 PMID:11903362 PMID:12270007 PMID:17319284 PMID:17697869 PMID:20558929 PMID:22336472 PMID:25741868 PMID:28492532 PMID:29321515 PMID:30311386
NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
G
Dennd11
DENN domain containing 11
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
NCBI chr 4:68,569,308...68,597,626
Ensembl chr 4:68,569,691...68,597,586
G
Dhcr7
7-dehydrocholesterol reductase
ISO
ClinVar Annotator: match by term: Lens opacity
ClinVar
PMID:10814720 PMID:10995508 PMID:11427181 PMID:20104611 PMID:22382802 PMID:22929031 PMID:23042628 PMID:25741868 PMID:28492532 PMID:30311386
NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
G
Dmd
dystrophin
disease_progression
ISO
ClinVar Annotator: match by term: Lens opacity
ClinVar
PMID:23352160 PMID:23871722 PMID:26467025 PMID:26743743 PMID:26990548 PMID:28492532 PMID:30311386 PMID:30415094 , PMID:25489223
RGD:12879865
NCBI chr X:51,149,358...53,519,271
Ensembl chr X:51,286,737...53,519,259
G
Dnase2b
deoxyribonuclease 2 beta
ISS
OMIM:601371
MouseDO
NCBI chr 2:252,436,363...252,475,506
Ensembl chr 2:252,436,332...252,451,999
G
Epha2
Eph receptor A2
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:26694549
NCBI chr 5:159,845,773...159,874,203
Ensembl chr 5:159,845,774...159,874,206
G
Epm2a
EPM2A glucan phosphatase, laforin
ISO
ClinVar Annotator: match by term: Cataract
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
G
Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
DNA:mutation:cds:c.2209T>C (p.S37P) (human)
RGD
PMID:25951169
RGD:12880390
NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
G
Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18628313
NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
G
Fam111a
FAM111 trypsin like peptidase A
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:30311386
NCBI chr 1:229,003,778...229,019,532
Ensembl chr 1:229,003,961...229,019,527
G
Fas
Fas cell surface death receptor
ISO
associated with Diabetic Retinopathy; mRNA,protein:increased expression:epithelial cell
RGD
PMID:12658358
RGD:2315757
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
G
Fdft1
farnesyl diphosphate farnesyl transferase 1
IAGP
RGD
PMID:16440058
RGD:1626611
NCBI chr15:46,339,248...46,367,302
Ensembl chr15:46,339,249...46,367,302
G
Fgf2
fibroblast growth factor 2
ISO
mRNA:increased expression:lens, epithelial cell
RGD
PMID:19491954
RGD:8554856
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
G
Fyco1
FYVE and coiled-coil domain autophagy adaptor 1
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
NCBI chr 8:132,844,042...132,910,905
Ensembl chr 8:132,844,043...132,911,193
G
G6pd
glucose-6-phosphate dehydrogenase
treatment
IDA ISO
ClinVar Annotator: match by term: Lens opacity
ClinVar
PMID:1562739 PMID:2263506 PMID:6714986 PMID:8447319 PMID:8537082 PMID:9299858 PMID:10643148 PMID:11499668 PMID:16143877 PMID:17726510 PMID:20203002 PMID:21446359 PMID:23365477 PMID:25541721 PMID:25775246 PMID:26060661 PMID:26823837 PMID:28492532 PMID:30311386 , PMID:24886740
RGD:10449123
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
G
Galk1
galactokinase 1
ISO
DNA:missense mutation, nonsense mutation:cds:p.V32M, p.E80X (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:7670469 , PMID:7670469
RGD:1300192
NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480
G
Gclc
glutamate-cysteine ligase, catalytic subunit
ISS
OMIM:601371
MouseDO
NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
G
Gcnt2
glucosaminyl (N-acetyl) transferase 2 (I blood group)
ISO
DNA:nonsense mutation:exon: ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:15161861
RGD:8693611
NCBI chr17:21,634,546...21,677,477
Ensembl chr17:21,634,551...21,739,408
G
Gemin4
gem (nuclear organelle) associated protein 4
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:25558065 PMID:27878435
NCBI chr10:64,364,808...64,375,885
Ensembl chr10:64,368,809...64,375,816
G
Gja3
gap junction protein, alpha 3
IAGP ISO
DNA:missense mutation ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:15208569 PMID:19182255 PMID:26694549 PMID:27609163 PMID:28492532 , PMID:16271086
RGD:1599824
NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178
G
Gja8
gap junction protein, alpha 8
IAGP ISO
ClinVar Annotator: match by term: Congenital cataract CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:9497259 PMID:18334946 PMID:21228318 PMID:25003127 PMID:26694549 PMID:28492532 , PMID:12356818
RGD:629571
NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
G
Gja8m1Cas
gap junction protein, alpha 8; mutant 1 Cas
IAGP
RGD
PMID:12356818
RGD:629571
G
Gjb2
gap junction protein, beta 2
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 PMID:9600457 PMID:9620796 PMID:9819448 PMID:10204859 PMID:10369869 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10508996 PMID:10544226 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10782932 PMID:10807696 PMID:10982182 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11483639 PMID:11493200 PMID:11668644 PMID:11918723 PMID:12072059 PMID:12081719 PMID:12172392 PMID:12176036 PMID:12239718 PMID:12522556 PMID:12684873 PMID:12786762 PMID:14070830 PMID:14986832 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15359540 PMID:15365987 PMID:15482471 PMID:15666300 PMID:15954104 PMID:15967879 PMID:16088916 PMID:16336662 PMID:16380907 PMID:16773579 PMID:16868655 PMID:17428550 PMID:17553572 PMID:17993581 PMID:18294064 PMID:18414213 PMID:18804553 PMID:18925674 PMID:18985073 PMID:19371219 PMID:19375528 PMID:19925344 PMID:20073550 PMID:20236118 PMID:20301449 PMID:20739944 PMID:20815033 PMID:21056478 PMID:21465647 PMID:21468573 PMID:21910243 PMID:22567152 PMID:22855627 PMID:22975760 PMID:22981120 PMID:23489192 PMID:23757202 PMID:24033266 PMID:24158611 PMID:24346070 PMID:25741868 PMID:25937001 PMID:25999548 PMID:26467025 PMID:26940866 PMID:26969326 PMID:28492532 PMID:29362677 PMID:29501291 PMID:30311386 PMID:30872814
NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
G
Gpr179
G protein-coupled receptor 179
ISO
ClinVar Annotator: match by term: Lens opacity
ClinVar
PMID:30311386
NCBI chr10:85,273,839...85,289,886
Ensembl chr10:85,274,057...85,289,777
G
Gpx1
glutathione peroxidase 1
IDA
RGD
PMID:23194826
RGD:11353787
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
G
Gsr
glutathione-disulfide reductase
treatment
ISO IDA
RGD
PMID:947404 , PMID:24530554
RGD:1600697 , RGD:10401885
NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
G
Gstm1
glutathione S-transferase mu 1
susceptibility no_association
ISO
DNA:deletion:cds (human)
RGD
PMID:7781744 , PMID:8631631
RGD:7488949 , RGD:7488950
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
G
Gstt1
glutathione S-transferase theta 1
susceptibility no_association
ISO
DNA:deletion:cds (human)
RGD
PMID:20335620 , PMID:22876127
RGD:7794821 , RGD:7794839
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
G
Hadhb
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ISO
ClinVar Annotator: match by term: Lens opacity
ClinVar
PMID:30311386
NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
G
Hsf4
heat shock transcription factor 4
ISO
autosomal dominant lamellar cataract, OMIM:116800 ClinVar Annotator: match by term: Cataract
ClinVar
PMID:12089525
RGD:1599774
NCBI chr19:37,225,800...37,232,048
Ensembl chr19:37,226,186...37,231,912
G
Iars2
isoleucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Cataract
ClinVar
PMID:8409271 PMID:25130867
NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906
G
Ifng
interferon gamma
ISO
RGD
PMID:8188461
RGD:8157612
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
G
Il18
interleukin 18
IEP
associated with Diabetes Mellitus, Type 2;mRNA:increased expression:lens
RGD
PMID:18006521 , PMID:21591858
RGD:8655879 , RGD:8655881
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
G
Impdh1
inosine monophosphate dehydrogenase 1
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:30311386
NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
G
Impg2
interphotoreceptor matrix proteoglycan 2
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:30311386
NCBI chr11:46,615,091...46,693,565
Ensembl chr11:46,615,200...46,693,565
G
Lim2
lens intrinsic membrane protein 2
onset
ISO
DNA:missense mutation:cds: p.F105V (human) ClinVar Annotator: match by term: Cataract ClinVar Annotator: match by term: Cortical pulverulent cataract CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:11917274 PMID:28450710 PMID:28492532 , PMID:11917274
RGD:1600309
NCBI chr 1:98,495,082...98,501,248
Ensembl chr 1:98,495,082...98,501,249
G
Lonp1
lon peptidase 1, mitochondrial
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:30311386
NCBI chr 9:10,428,853...10,441,180
Ensembl chr 9:10,428,853...10,441,177
G
Maf
MAF bZIP transcription factor
ISO
DNA:missense mutation: :p.R288P (human) ClinVar Annotator: match by term: Congenital cataract DNA:missense mutation:exon:p.Q303P (c.908A>C) (human) DNA:missense mutation: :p.D90V (mouse)
ClinVar
PMID:25741868 PMID:26694549 PMID:30311386 , PMID:11772997 , PMID:24664492 , PMID:17374726
RGD:1547889 , RGD:13204738 , RGD:13204737
NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
G
Map2k1
mitogen activated protein kinase kinase 1
IMP
RGD
PMID:11222509
RGD:12801446
NCBI chr 8:69,134,218...69,722,573
Ensembl chr 8:69,134,223...69,164,758
G
Miat
myocardial infarction associated transcript
ISO
ClinVar Annotator: match by term: Cataract, congenital
ClinVar
PMID:28272538
NCBI chr12:50,447,251...50,461,859
G
Mip
major intrinsic protein of lens fiber
ISO
ClinVar Annotator: match by term: Congenital cataract ClinVar Annotator: match by term: Cataract CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:10802646 PMID:25741868 PMID:26694549 , PMID:10802646
RGD:1599936
NCBI chr 7:2,635,743...2,642,995
Ensembl chr 7:2,635,743...2,642,848
G
Mir221
microRNA 221
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30926320
NCBI chr X:3,684,480...3,684,588
Ensembl chr X:3,684,480...3,684,588
G
Mmaa
metabolism of cobalamin associated A
ISO
ClinVar Annotator: match by term: Cataract
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:32,294,087...32,325,927
Ensembl chr19:32,308,236...32,325,927
G
Mmp3
matrix metallopeptidase 3
ISO
RGD
PMID:17062942
RGD:8693669
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNPs, haplotype: : 677C>T, 1298A>C (human)
RGD
PMID:16310481
RGD:7387253
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
G
Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:30311386
NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
G
Ndrg2
NDRG family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22043305
NCBI chr15:28,305,820...28,314,459
Ensembl chr15:28,305,821...28,314,459
G
Ndufb3
NADH:ubiquinone oxidoreductase subunit B3
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:25741868
NCBI chr 9:65,478,496...65,488,708
Ensembl chr 9:65,478,496...65,488,702
G
Nectin3
nectin cell adhesion molecule 3
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
NCBI chr11:57,897,879...57,995,193
Ensembl chr11:57,897,879...57,993,548
G
Nfe2l2
nuclear factor, erythroid 2-like 2
disease_progression
ISO
DNA:snps, haplotype:5' utr, intron:multiple (human)
RGD
PMID:20064547
RGD:6893326
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
G
Nhs
NHS actin remodeling regulator
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:26694549 PMID:30311386
NCBI chr X:34,312,102...34,675,912
Ensembl chr X:34,623,405...34,673,742
G
Nr3c1
nuclear receptor subfamily 3, group C, member 1
IMP
RGD
PMID:12714641
RGD:4892118
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
G
Ocrl
OCRL, inositol polyphosphate-5-phosphatase
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:23047739 PMID:25741868 PMID:26694549 PMID:28492532
NCBI chr X:134,742,226...134,793,411
Ensembl chr X:134,742,356...134,792,618
G
Ogg1
8-oxoguanine DNA glycosylase
susceptibility
ISO
DNA:SNP: :p.S326C (rs1052133)(human)
RGD
PMID:22306120
RGD:8657151
NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
G
Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
ClinVar Annotator: match by term: Lens opacity
ClinVar
PMID:30311386
NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
G
Pah
phenylalanine hydroxylase
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:1679030 PMID:8889590 PMID:9399896 PMID:9521426 PMID:11461190 PMID:12501224 PMID:16879198 PMID:17935162 PMID:21147011 PMID:21953985 PMID:22513348 PMID:23430547 PMID:23500595 PMID:25596310 PMID:25741868 PMID:26322415 PMID:28492532 PMID:30311386
NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
G
Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Lens opacity
ClinVar
PMID:20122277 PMID:20412113 PMID:20582465 PMID:20589654 PMID:21165770 PMID:21285249 PMID:21365267 PMID:24061862 PMID:24136930 PMID:24415441 PMID:25099575 PMID:25186627 PMID:25330149 PMID:25452441 PMID:25741868 PMID:25959805 PMID:26083025 PMID:26270727 PMID:26467025 PMID:26720728 PMID:26845104 PMID:27038244 PMID:27099641 PMID:27106063 PMID:28158555 PMID:28279176 PMID:28492532 PMID:30311386
NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520
G
Pax6
paired box 6
ISO
human gene in a mouse model ClinVar Annotator: match by term: Congenital cataract CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:25741868 PMID:26694549 PMID:29178648 PMID:30221735 , PMID:10954416 , PMID:15161862
RGD:8552253 , RGD:8552372
NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
G
Pex11b
peroxisomal biogenesis factor 11 beta
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
NCBI chr 2:198,762,138...198,771,040
Ensembl chr 2:198,762,138...198,771,026
G
Pitx2
paired-like homeodomain 2
ISO
ClinVar Annotator: match by term: Lens opacity ClinVar Annotator: match by term: Cataract
ClinVar
PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532
NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
G
Pitx3
paired-like homeodomain 3
ISO
DNA:insertion:exon:c.657ins17bp CTD Direct Evidence: marker/mechanism
CTD
PMID:9620774 PMID:16565358 , PMID:15665340
RGD:11535076
NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
G
Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Lens opacity
ClinVar
PMID:25741868 PMID:26467025 PMID:30311386
NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
G
Pon1
paraoxonase 1
ISO
associated with Diabetes Mellitus, Type 2;protein:decreased activity:eye, lens (human)
RGD
PMID:19439227
RGD:8547553
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
G
Prpf6
pre-mRNA processing factor 6
ISO
ClinVar Annotator: match by term: Lens opacity
ClinVar
PMID:30311386
NCBI chr 3:177,098,137...177,162,937
Ensembl chr 3:177,098,073...177,162,916
G
Psmc3
proteasome 26S subunit, ATPase 3
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
NCBI chr 3:79,876,938...79,882,319
Ensembl chr 3:79,876,938...79,882,319
G
Pten
phosphatase and tensin homolog
ISO
RGD
PMID:24270425
RGD:12859033
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
G
Pxdn
peroxidasin
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:26694549 PMID:28492532
NCBI chr 6:48,866,496...48,982,368
Ensembl chr 6:48,866,601...48,980,340
G
Rom1
retinal outer segment membrane protein 1
ISO
ClinVar Annotator: match by term: Lens opacity
ClinVar
PMID:30311386
NCBI chr 1:225,126,732...225,128,740
Ensembl chr 1:225,126,734...225,128,740
G
Rp1l1
RP1 like 1
ISO
ClinVar Annotator: match by term: Lens opacity
ClinVar
PMID:30311386
NCBI chr15:47,344,380...47,384,461
Ensembl chr15:47,373,120...47,383,508
G
Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Lens opacity
ClinVar
PMID:11710892 PMID:19597050 PMID:20129283 PMID:22581653 PMID:24033266 PMID:24400668 PMID:24613995 PMID:24681144 PMID:25741868 PMID:28492532 PMID:29728395 PMID:30311386
NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
G
Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:30311386
NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
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Sil1
SIL1 nucleotide exchange factor
ISO
ClinVar Annotator: match by term: Cataract
ClinVar
PMID:32581362
NCBI chr18:28,067,476...28,302,008
Ensembl chr18:28,067,484...28,301,863
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Six6
SIX homeobox 6
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
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Slc16a12
solute carrier family 16, member 12
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:26694549
NCBI chr 1:252,976,071...253,054,500
Ensembl chr 1:252,976,644...253,000,760
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Slc19a1
solute carrier family 19 member 1
ISO
ClinVar Annotator: match by term: Cataract
ClinVar
NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
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Slc2a1
solute carrier family 2 member 1
ISO
RGD
PMID:11222509
RGD:12801446
NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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Slc2a3
solute carrier family 2 member 3
IEP
associated with Diabetes Mellitus, Experimental
RGD
PMID:12882795
RGD:2313618
NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
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Slc33a1
solute carrier family 33 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22243965
NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919
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Slc4a4
solute carrier family 4 member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18614622
NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286
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Slc9a1
solute carrier family 9 member A1
IMP
associated with Diabetes Mellitus, Experimental
RGD
PMID:22407349
RGD:8693684
NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
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Sod1
superoxide dismutase 1
susceptibility
ISO
associated with Diabetes Mellitus, Experimental DNA:snp:intron:IVS3-251A>G (rs2070424) (human) mRNA:decreased expression:eye lens (human)
RGD
PMID:19324844 , PMID:21921984 , PMID:23970468 , PMID:16254550
RGD:2312362 , RGD:8655573 , RGD:8655570 , RGD:1581192
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Sord
sorbitol dehydrogenase
ISS
OMIM:601371
MouseDO
NCBI chr 3:114,176,127...114,207,368
Ensembl chr 3:114,176,309...114,207,366
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Taldo1
transaldolase 1
ISO
ClinVar Annotator: match by term: Cataract
ClinVar
PMID:25741868
NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
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Tdrd7
tudor domain containing 7
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital cataract
CTD ClinVar
PMID:21436445
NCBI chr 5:61,557,909...61,631,719
Ensembl chr 5:61,564,864...61,631,710
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Tp53
tumor protein p53
ISO
RGD
PMID:21504908
RGD:8547757
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Twist1
twist family bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Congenital cataract
ClinVar
PMID:30311386
NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
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Upf3b
UPF3B, regulator of nonsense mediated mRNA decay
ISO
ClinVar Annotator: match by term: Cataract
ClinVar
PMID:25741868
NCBI chr X:123,713,327...123,731,431
Ensembl chr X:123,713,339...123,731,385
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Ush1c
USH1 protein network component harmonin
ISO
ClinVar Annotator: match by term: Lens opacity
ClinVar
PMID:30311386
NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
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Ush2a
usherin
ISO
ClinVar Annotator: match by term: Lens opacity
ClinVar
PMID:28492532 PMID:30311386
NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
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Vim
vimentin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital cataract
CTD ClinVar
PMID:19126778 PMID:26694549 PMID:30311386
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
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Vps13b
vacuolar protein sorting 13 homolog B
ISS
OMIM:601371
MouseDO
NCBI chr 7:74,118,834...74,722,341
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Xdh
xanthine dehydrogenase
treatment
IEP ISO
ClinVar Annotator: match by term: Lens opacity
ClinVar
PMID:25741868 PMID:28492532 , PMID:25860848
RGD:13208958
NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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Xrcc1
X-ray repair cross complementing 1
ISO
associated with Radiation Injuries
RGD
PMID:18334943
RGD:10401127
NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
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Gja3
gap junction protein, alpha 3
ISO
ClinVar Annotator: match by term: Zonular Pulverulent Cataract
ClinVar
NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178
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Gja8
gap junction protein, alpha 8
ISO IAGP
ClinVar Annotator: match by term: CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA ClinVar Annotator: match by term: Zonular Pulverulent Cataract DNA:missense mutation:cds:p.L7Q(rat) ClinVar Annotator: match by OMIM:116200
OMIM ClinVar
PMID:9497259 PMID:10362609 PMID:10480374 PMID:11846744 PMID:12800976 PMID:14059288 PMID:14627691 PMID:16397066 PMID:16604058 PMID:17724170 PMID:18006672 PMID:18334946 PMID:18334966 PMID:18587493 PMID:19073179 PMID:21174522 PMID:21228318 PMID:23508780 PMID:23555834 PMID:24281366 PMID:24535056 PMID:25003127 PMID:25741868 PMID:26694549 PMID:28392901 PMID:28492532 PMID:29464339 , PMID:18470322
RGD:2293186
NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
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Gja8m1Cub
gap junction protein, alpha 8; mutant 1 Cub
IAGP
RGD
PMID:18470322
RGD:2293186
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Cryba1
crystallin, beta A1
ISO
ClinVar Annotator: match by term: Cataract, congenital zonular, with sutural opacities DNA:mutation:exon:170T>A(mouse) ClinVar Annotator: match by OMIM:600881
OMIM ClinVar
PMID:9788845 PMID:11006214 PMID:14598164 PMID:14693780 PMID:15016766 PMID:20142846 PMID:21139983 PMID:21850182 PMID:21866213 PMID:22919269 PMID:24281366 PMID:25741868 PMID:26851658 PMID:28492532 , PMID:10585769
RGD:734831
NCBI chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494
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Pitx3
paired-like homeodomain 3
ISO
ClinVar Annotator: match by term: CATARACT 11, MULTIPLE TYPES CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cataract 11, posterior polar
OMIM ClinVar CTD
PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:16565358 PMID:18989383
NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
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Bfsp2
beaded filament structural protein 2
ISO
ClinVar Annotator: match by term: Cataract 12, multiple types ClinVar Annotator: match by OMIM:611597
OMIM ClinVar
PMID:10729115 PMID:25741868 PMID:28492532
NCBI chr 8:111,908,614...111,965,889
Ensembl chr 8:111,908,614...111,965,889
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Gcnt2
glucosaminyl (N-acetyl) transferase 2 (I blood group)
ISO
ClinVar Annotator: match by term: Cataract 13 with adult i phenotype ClinVar Annotator: match by term: Adult i Blood Group with or without Congenital Cataract ClinVar Annotator: match by term: Adult i blood group with or without congenital cataract ClinVar Annotator: match by term: Adult I blood group with or without congenital cataract
OMIM ClinVar
PMID:11739194 PMID:12424189 PMID:22935719 PMID:25457163 PMID:25741868 PMID:28492532
NCBI chr17:21,634,546...21,677,477
Ensembl chr17:21,634,551...21,739,408
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Cryl1
crystallin, lambda 1
ISO
ClinVar Annotator: match by term: Zonular pulverulent cataract 3
ClinVar
PMID:28492532
NCBI chr15:37,543,727...37,663,586
Ensembl chr15:37,543,727...37,663,584
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Eef1akmt1
EEF1A lysine methyltransferase 1
ISO
ClinVar Annotator: match by term: Zonular pulverulent cataract 3
ClinVar
PMID:28492532
NCBI chr15:37,813,115...37,830,932
Ensembl chr15:37,813,115...37,831,031
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Gja3
gap junction protein, alpha 3
ISO
ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar Annotator: match by OMIM:601885
OMIM ClinVar
PMID:10205266 PMID:10746562 PMID:15208569 PMID:15286166 PMID:15448617 PMID:16204255 PMID:19182255 PMID:20431721 PMID:21552498 PMID:21681855 PMID:21897748 PMID:22312188 PMID:22550389 PMID:22876138 PMID:23734083 PMID:24772942 PMID:25741868 PMID:26694549 PMID:27275416 PMID:27609163 PMID:28492532 PMID:28877251 PMID:29321356
NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178
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Gjb2
gap junction protein, beta 2
ISO
ClinVar Annotator: match by term: Zonular pulverulent cataract 3
ClinVar
PMID:28492532
NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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Gjb6
gap junction protein, beta 6
ISO
ClinVar Annotator: match by term: Zonular pulverulent cataract 3
ClinVar
PMID:28492532
NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
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Ift88
intraflagellar transport 88
ISO
ClinVar Annotator: match by term: Zonular pulverulent cataract 3
ClinVar
PMID:28492532
NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924
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Il17d
interleukin 17D
ISO
ClinVar Annotator: match by term: Zonular pulverulent cataract 3
ClinVar
PMID:28492532
NCBI chr15:37,790,211...37,807,653
Ensembl chr15:37,790,141...37,807,660
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Xpo4
exportin 4
ISO
ClinVar Annotator: match by term: Zonular pulverulent cataract 3
ClinVar
PMID:28492532
NCBI chr15:37,835,580...37,926,715
Ensembl chr15:37,835,580...37,926,715
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Mip
major intrinsic protein of lens fiber
ISO
ClinVar Annotator: match by term: Cataract 15, multiple types
OMIM ClinVar
PMID:3456204 PMID:10802646 PMID:10937580 PMID:16564824 PMID:18501347 PMID:20361015 PMID:21921980 PMID:24405844 PMID:25741868 PMID:27456987 PMID:28492532
NCBI chr 7:2,635,743...2,642,995
Ensembl chr 7:2,635,743...2,642,848
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Cryab
crystallin, alpha B
ISO
ClinVar Annotator: match by term: Cataract 16, multiple types ClinVar Annotator: match by OMIM:613763
OMIM ClinVar
PMID:1560021 PMID:11013455 PMID:11577372 PMID:16483541 PMID:16505043 PMID:16793013 PMID:16877416 PMID:17116488 PMID:19461931 PMID:20171888 PMID:21920752 PMID:22106715 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25073507 PMID:25208129 PMID:25741868 PMID:26265630 PMID:26467025 PMID:26694549 PMID:26961874 PMID:28492532 PMID:28690483 PMID:28798025
NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
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Cryba4
crystallin, beta A4
ISO
ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 3
ClinVar
PMID:17460281 PMID:20565250 PMID:25741868 PMID:28492532 PMID:33223529
NCBI chr12:50,407,843...50,414,434
Ensembl chr12:50,407,843...50,414,432
G
Crybb1
crystallin, beta B1
ISO
ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 3 ClinVar Annotator: match by OMIM:611544
OMIM ClinVar
PMID:12360425 PMID:16110300 PMID:17460281 PMID:20565250 PMID:21972112 PMID:25741868 PMID:28492532 PMID:33223529
NCBI chr12:50,390,939...50,404,550
Ensembl chr12:50,390,940...50,404,550
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Fyco1
FYVE and coiled-coil domain autophagy adaptor 1
ISO
ClinVar Annotator: match by term: Cataract 18 ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 2 ClinVar Annotator: match by OMIM:610019
OMIM ClinVar
PMID:11519376 PMID:21636066 PMID:25741868 PMID:28492532
NCBI chr 8:132,844,042...132,910,905
Ensembl chr 8:132,844,043...132,911,193
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Lim2
lens intrinsic membrane protein 2
ISO
ClinVar Annotator: match by term: Cataract 19, multiple types ClinVar Annotator: match by OMIM:615277
OMIM ClinVar
PMID:11917274 PMID:18596884 PMID:21386927 PMID:28450710 PMID:28492532
NCBI chr 1:98,495,082...98,501,248
Ensembl chr 1:98,495,082...98,501,249
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Crygc
crystallin, gamma C
ISO
ClinVar Annotator: match by term: Cataract 2, multiple types ClinVar Annotator: match by term: Nuclear pulverulent cataract ClinVar Annotator: match by term: Cataract, coppock-like ClinVar Annotator: match by term: Cataract 2, coppock-like ClinVar Annotator: match by OMIM:604307
OMIM ClinVar
PMID:8004095 PMID:8190472 PMID:10521291 PMID:10914683 PMID:12011157 PMID:12601044 PMID:17679936 PMID:19204787 PMID:22052681 PMID:22876111 PMID:24281366 PMID:25741868 PMID:26694549 PMID:27307692 PMID:27535533 PMID:28298635 PMID:28492532
NCBI chr 9:71,786,246...71,788,281
Ensembl chr 9:71,786,248...71,788,281
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Crygd
crystallin, gamma D
ISS
OMIM:604307
MouseDO
NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323
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Crygs
crystallin, gamma S
ISO
ClinVar Annotator: match by term: Cataract 20 multiple types
OMIM ClinVar
PMID:16141006 PMID:18587492 PMID:19262743 PMID:28492532
NCBI chr11:81,796,891...81,802,172
Ensembl chr11:81,796,891...81,802,172
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Dynlrb2
dynein light chain roadblock-type 2
ISO
ClinVar Annotator: match by term: Cataract 21, multiple types
ClinVar
PMID:28492532
NCBI chr19:49,016,919...49,028,400
Ensembl chr19:49,016,891...49,028,404
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Maf
MAF bZIP transcription factor
ISO
ClinVar Annotator: match by term: Cataract 21, multiple types ClinVar Annotator: match by OMIM:610202
OMIM ClinVar
PMID:11772997 PMID:12620964 PMID:16470690 PMID:17982426 PMID:22345400 PMID:24664492 PMID:24968223 PMID:25741868 PMID:26694549 PMID:28492532
NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
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Wwox
WW domain-containing oxidoreductase
ISO
ClinVar Annotator: match by term: Cataract 21, multiple types
ClinVar
PMID:28492532
NCBI chr19:46,761,353...47,695,247
G
Crybb3
crystallin, beta B3
ISO
ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 2 ClinVar Annotator: match by OMIM:609741
OMIM ClinVar
PMID:15914629 PMID:19182255 PMID:23508780 PMID:24940039 PMID:25741868 PMID:26694549 PMID:27307692 PMID:28492532
NCBI chr12:49,564,991...49,571,008
Ensembl chr12:49,565,992...49,571,006
G
Cryba4
crystallin, beta A4
ISO
ClinVar Annotator: match by term: Cataract 23, multiple types
OMIM ClinVar
PMID:15452067 PMID:16960806 PMID:20577656 PMID:25741868 PMID:26694549 PMID:28492532
NCBI chr12:50,407,843...50,414,434
Ensembl chr12:50,407,843...50,414,432
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Gja8
gap junction protein, alpha 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14627691
NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
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Pax6
paired box 6
ISO
associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human)
RGD
PMID:22393272
RGD:8552277
NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
G
Crybb2
crystallin, beta B2
ISO
ClinVar Annotator: match by term: Cataract 3, multiple types ClinVar Annotator: match by term: CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA ClinVar Annotator: match by OMIM:601547
OMIM ClinVar
PMID:2240043 PMID:8812489 PMID:9158139 PMID:10634616 PMID:11424921 PMID:17234267 PMID:24120835 PMID:24704203 PMID:25741868 PMID:28492532 PMID:29386872 PMID:30450742
NCBI chr12:49,577,580...49,588,555
Ensembl chr12:49,578,633...49,588,555
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Vim
vimentin
ISO
ClinVar Annotator: match by term: Cataract 30 ClinVar Annotator: match by term: Cataract 30, multiple types ClinVar Annotator: match by OMIM:116300
OMIM ClinVar
PMID:19126778 PMID:25741868 PMID:26694549 PMID:28450710 PMID:28492532
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
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Chmp4b
charged multivesicular body protein 4B
ISO
ClinVar Annotator: match by term: Cataract 31 multiple types ClinVar Annotator: match by OMIM:605387
OMIM ClinVar
PMID:10682967 PMID:17701905 PMID:28492532
NCBI chr 3:150,188,275...150,227,453
Ensembl chr 3:150,188,455...150,227,405
G
Bfsp1
beaded filament structural protein 1
ISO
ClinVar Annotator: match by term: Cataract 33, multiple types ClinVar Annotator: match by term: Cataract, cortical, juvenile-onset ClinVar Annotator: match by OMIM:611391
OMIM ClinVar
PMID:17225135 PMID:24281366 PMID:24379646 PMID:28450710 PMID:28492532
NCBI chr 3:137,935,345...137,992,652
Ensembl chr 3:137,935,345...137,969,658
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Esr1
estrogen receptor 1
ISO
RGD
PMID:12082175
RGD:734947
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
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Foxe3
forkhead box E3
ISO
ClinVar Annotator: match by term: Cataract 34, multiple types
ClinVar OMIM
PMID:17893665 PMID:27218149 PMID:28492532
NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
G
Tdrd7
tudor domain containing 7
ISO
ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 4 ClinVar Annotator: match by OMIM:613887
OMIM ClinVar
PMID:21436445 PMID:25741868 PMID:28418495 PMID:28492532
NCBI chr 5:61,557,909...61,631,719
Ensembl chr 5:61,564,864...61,631,710
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Agk
acylglycerol kinase
ISO
ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 5 ClinVar Annotator: match by term: AGK-Related Disorders
OMIM ClinVar
PMID:22415731 PMID:24088041 PMID:25741868 PMID:26582918 PMID:26633545 PMID:28492532
NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801
G
Dennd11
DENN domain containing 11
ISO
ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 5
ClinVar
NCBI chr 4:68,569,308...68,597,626
Ensembl chr 4:68,569,691...68,597,586
G
Crygb
crystallin, gamma B
ISO
ClinVar Annotator: match by term: Cataract 39, multiple types ClinVar Annotator: match by OMIM:615188
OMIM ClinVar
PMID:23288985 PMID:28492532
NCBI chr 9:71,796,204...71,798,265
Ensembl chr 9:71,796,204...71,798,265
G
Crygd
crystallin, gamma D
ISO
ClinVar Annotator: match by term: Cataract 4 ClinVar Annotator: match by term: CATARACT 4, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA ClinVar Annotator: match by OMIM:115700
OMIM ClinVar
PMID:9927684 PMID:10521291 PMID:10688888 PMID:10915766 PMID:11371638 PMID:12011157 PMID:12676897 PMID:16446699 PMID:17564961 PMID:17724170 PMID:18587492 PMID:19382745 PMID:19390652 PMID:19668596 PMID:21827768 PMID:22995991 PMID:23508780 PMID:23936409 PMID:25403472 PMID:25741868 PMID:26694549 PMID:28450710 PMID:28474685 PMID:28492532
NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323
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Nhs
NHS actin remodeling regulator
ISO
ClinVar Annotator: match by term: CATARACT 40 WITH OR WITHOUT MICROCORNEA ClinVar Annotator: match by OMIM:302200
OMIM ClinVar
PMID:19414485 PMID:25741868
NCBI chr X:34,312,102...34,675,912
Ensembl chr X:34,623,405...34,673,742
G
Wfs1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: CATARACT 41, CONGENITAL NUCLEAR TYPE ClinVar Annotator: match by term: Cataract 41 ClinVar Annotator: match by OMIM:116400
OMIM ClinVar
PMID:10679252 PMID:15605410 PMID:18544103 PMID:23531866 PMID:24033266 PMID:25133958 PMID:25388789 PMID:25741868 PMID:26435059
NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
G
Cryba2
crystallin, beta A2
ISO
OMIM
NCBI chr 9:82,151,056...82,154,266
Ensembl chr 9:82,151,057...82,154,266
G
Unc45b
unc-45 myosin chaperone B
ISO
ClinVar Annotator: match by term: Cataract 43
ClinVar OMIM
PMID:24549050
NCBI chr10:70,262,340...70,290,445
Ensembl chr10:70,262,361...70,290,445
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Lss
lanosterol synthase
ISO
ClinVar Annotator: match by term: Cataract 44
ClinVar OMIM
PMID:26200341 PMID:29016354
NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497
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Sipa1l3
signal-induced proliferation-associated 1 like 3
ISO
ClinVar Annotator: match by term: Cataract 45
ClinVar OMIM
PMID:25804400
NCBI chr 1:87,260,832...87,467,846
Ensembl chr 1:87,260,835...87,468,288
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Lemd2
LEM domain nuclear envelope protein 2
ISO
ClinVar Annotator: match by term: Cataract Hutterite type
OMIM ClinVar
PMID:4061486 PMID:23806086 PMID:23863954 PMID:24088041 PMID:26788539 PMID:31061923
NCBI chr20:5,779,742...5,786,213
Ensembl chr20:6,545,083...6,556,350
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Slc16a12
solute carrier family 16, member 12
ISO
ClinVar Annotator: match by OMIM:612018
OMIM ClinVar
PMID:17458810 PMID:18304496 PMID:21778275 PMID:26376857
NCBI chr 1:252,976,071...253,054,500
Ensembl chr 1:252,976,644...253,000,760
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Dnmbp
dynamin binding protein
ISO
ClinVar Annotator: match by term: CATARACT 48
OMIM ClinVar
PMID:25741868 PMID:30290152
NCBI chr 1:263,625,503...263,718,784
Ensembl chr 1:263,625,501...263,718,745
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Fbxl8
F-box and leucine-rich repeat protein 8
ISO
ClinVar Annotator: match by term: Cataract 5 multiple types
ClinVar
NCBI chr19:37,216,696...37,225,701
Ensembl chr19:37,221,132...37,226,065
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Hsf4
heat shock transcription factor 4
ISO
ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar Annotator: match by term: Lamellar cataract ClinVar Annotator: match by term: Cataract, zonular ClinVar Annotator: match by OMIM:116800
OMIM ClinVar
PMID:3233780 PMID:12089525 PMID:15959809 PMID:18941546 PMID:20670914 PMID:24045990 PMID:24975927 PMID:25741868 PMID:28492532
NCBI chr19:37,225,800...37,232,048
Ensembl chr19:37,226,186...37,231,912
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Epha2
Eph receptor A2
ISO
ClinVar Annotator: match by term: Cataract 6, multiple types ClinVar Annotator: match by term: Age-related cortical cataract ClinVar Annotator: match by OMIM:116600
OMIM ClinVar
PMID:9002669 PMID:12167657 PMID:15965161 PMID:16051609 PMID:19005574 PMID:19306328 PMID:19649315 PMID:20360610 PMID:20625407 PMID:22570727 PMID:22645087 PMID:22829731 PMID:23447127 PMID:24014202 PMID:24705208 PMID:24968223 PMID:25741868 PMID:26900323 PMID:28492532
NCBI chr 5:159,845,773...159,874,203
Ensembl chr 5:159,845,774...159,874,206
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Crybb2
crystallin, beta B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9158139
NCBI chr12:49,577,580...49,588,555
Ensembl chr12:49,578,633...49,588,555
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Crygd
crystallin, gamma D
susceptibility
ISO
DNA:transversion:exon:p.P23T (human)
RGD
PMID:12676897
RGD:1601016
NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323
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Cryaa
crystallin, alpha A
ISO
ClinVar Annotator: match by term: Cataract, autosomal dominant, multiple types, with microcornea ClinVar Annotator: match by OMIM:604219 ClinVar Annotator: match by term: Cataract 9, autosomal recessive
OMIM ClinVar
PMID:9467006 PMID:10684623 PMID:11006246 PMID:11123904 PMID:12601044 PMID:14512969 PMID:16564818 PMID:16735993 PMID:16862070 PMID:17296897 PMID:17724170 PMID:17937925 PMID:18085469 PMID:18302245 PMID:18587492 PMID:19182255 PMID:19503744 PMID:20079887 PMID:21042563 PMID:22045060 PMID:22140512 PMID:22216983 PMID:22347476 PMID:23255486 PMID:23379525 PMID:23508780 PMID:25018622 PMID:25694240 PMID:25741868 PMID:26542570 PMID:26694549 PMID:27307692 PMID:28179137 PMID:28492532
NCBI chr20:10,438,444...10,442,189
Ensembl chr20:10,438,444...10,442,187
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Pitx3
paired-like homeodomain 3
ISO
DNA:missense mutation, insertion:cds:p.S13N, G219fsX226 (human)
RGD
PMID:9620774
RGD:737764
NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
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Gja8
gap junction protein, alpha 8
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cataract microcornea syndrome
CTD ClinVar
PMID:9497259 PMID:10362609 PMID:10480374 PMID:11846744 PMID:12800976 PMID:14059288 PMID:14627691 PMID:16397066 PMID:16604058 PMID:17724170 PMID:18006672 PMID:18334946 PMID:18334966 PMID:18587493 PMID:19073179 PMID:21174522 PMID:21228318 PMID:23508780 PMID:23555834 PMID:24281366 PMID:24535056 PMID:25003127 PMID:25741868 PMID:26694549 PMID:28392901 PMID:28492532 PMID:29464339
NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
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Maf
MAF bZIP transcription factor
ISO
DNA:missense mutations: :p.R299S (c.895C>A), p.K320E (c.958A>G) (human)
RGD
PMID:19182255
RGD:13204740
NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
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Cryba1
crystallin, beta A1
ISO
DNA:deletion:exon:c.279_281delGAG, p.G91del(human) DNA:splice-site mutaion:intron: IVS3+2 T>G (human)
RGD
PMID:21686330 , PMID:22665976
RGD:10059633 , RGD:10059638
NCBI chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494
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Gja3
gap junction protein, alpha 3
ISO
DNA:missense mutation:cds:p.N188T (human)
RGD
PMID:15448617
RGD:1578473
NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178
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Iars2
isoleucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
OMIM ClinVar
PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 PMID:30041933 PMID:30419932
NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
DNA:missense mutations:p.R616W, p.D681N (human) ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 ClinVar Annotator: match by OMIM:610756
ClinVar OMIM
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9238033 PMID:11443545 PMID:11710928 PMID:12820975 PMID:15494306 PMID:18510925 PMID:18637129 PMID:19934020 PMID:20944642 PMID:22826098 PMID:23221806 PMID:23232694 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24418926 PMID:24448499 PMID:24728327 PMID:25620205 PMID:25741868 PMID:26556299 PMID:26884178 PMID:27004399 PMID:29478780 , PMID:11443545
RGD:1601070
NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar Annotator: match by OMIM:610758
OMIM ClinVar
PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532
NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
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Polr1g
RNA polymerase I subunit G
ISO
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:80,267,725...80,271,001
Ensembl chr 1:80,267,725...80,271,001
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Foxe3
forkhead box E3
ISO
ClinVar Annotator: match by term: Aphakia, congenital primary ClinVar Annotator: match by term: Congenital primary aphakia CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 PMID:20361012 PMID:21150893 PMID:24033266 PMID:24033328 PMID:25504734 PMID:25741868 PMID:26854927 PMID:26995144 PMID:28492532 PMID:29136273 PMID:29878917 PMID:32499604
NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
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Ctdp1
CTD phosphatase subunit 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy
OMIM CTD ClinVar
PMID:14517542 PMID:15322984 PMID:16194727 PMID:25741868
NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
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Slc33a1
solute carrier family 33 member 1
ISO
ClinVar Annotator: match by term: Congenital cataracts, hearing loss, and neurodegeneration ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM ClinVar
PMID:15902551 PMID:22243965 PMID:22508683 PMID:31194315
NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919
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Inpp5k
inositol polyphosphate-5-phosphatase K
ISO
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
ClinVar OMIM
PMID:28190456 PMID:28190459
NCBI chr10:63,775,639...63,796,879
Ensembl chr10:63,776,378...63,795,899
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Epha2
Eph receptor A2
ISO
ClinVar Annotator: match by term: Cortical senile cataract
ClinVar
PMID:19649315 PMID:20625407 PMID:22645087 PMID:22829731 PMID:23447127 PMID:24705208
NCBI chr 5:159,845,773...159,874,203
Ensembl chr 5:159,845,774...159,874,206
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Crygd
crystallin, gamma D
ISO
ClinVar Annotator: match by term: Aculeiform cataract
ClinVar
PMID:9927684 PMID:10688888 PMID:11371638 PMID:12011157 PMID:12676897 PMID:16446699 PMID:17724170 PMID:19382745 PMID:19390652 PMID:19668596 PMID:21827768 PMID:22995991 PMID:25403472 PMID:25741868 PMID:26694549 PMID:28450710 PMID:28474685 PMID:28492532
NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323
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Gsr
glutathione-disulfide reductase
ISO
RGD
PMID:12518238
RGD:10401829
NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
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Adamtsl4
ADAMTS-like 4
ISO
ClinVar Annotator: match by term: Ectopia lentis
ClinVar
PMID:2056446 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25975359 PMID:28492532 PMID:28642162
NCBI chr 2:197,803,572...197,815,058
Ensembl chr 2:197,803,584...197,814,808
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Fbn1
fibrillin 1
ISO
DNA:missense mutation:cds:p.R240C (human) ClinVar Annotator: match by term: Ectopia lentis DNA:missense mutation:exon:p.C587R (c.1759T>C) (human) DNA:missense mutation:exon:p.R62C (c.184C>T) (human) DNA:missense mutation:exon:p.G214S (G640G>A) (human) DNA:missense mutation:exon:p.Y754C (c.2262A>G) (human) DNA:missense mutation:exon:p.C102Y (c.305G>A) (human) CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:7611299 PMID:7870075 PMID:8653794 PMID:8723076 PMID:8894692 PMID:9399842 PMID:9401003 PMID:9837823 PMID:10533071 PMID:10633129 PMID:10874320 PMID:11700157 PMID:11992479 PMID:12402346 PMID:12938084 PMID:14695540 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17418587 PMID:17627385 PMID:17657824 PMID:17663468 PMID:19159394 PMID:19293843 PMID:21542060 PMID:21895641 PMID:22772368 PMID:23577066 PMID:24033266 PMID:24161884 PMID:24793577 PMID:24941995 PMID:25326635 PMID:25504618 PMID:25741868 PMID:25812041 PMID:25852444 PMID:26133393 PMID:28492532 PMID:29543232 PMID:31227806 , PMID:15054843 , PMID:22219643 , PMID:22950452 , PMID:15733436 , PMID:22393277 , PMID:26558191 , PMID:8136837
RGD:1580380 , RGD:12910481 , RGD:12910479 , RGD:12910140 , RGD:12910138 , RGD:12904906 , RGD:1300363
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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Adamtsl4
ADAMTS-like 4
ISO
ClinVar Annotator: match by term: Ectopia lentis et pupillae ClinVar Annotator: match by OMIM:225200
OMIM ClinVar
PMID:2056446 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162
NCBI chr 2:197,803,572...197,815,058
Ensembl chr 2:197,803,584...197,814,808
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Asph
aspartate-beta-hydroxylase
ISO
ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs ClinVar Annotator: match by OMIM:601552
OMIM ClinVar
PMID:11241487 PMID:23687502 PMID:24768550 PMID:30194805
NCBI chr 5:22,577,680...22,799,333
Ensembl chr 5:22,577,675...22,799,349
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Mir184
microRNA 184
ISO
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM ClinVar
PMID:11874753 PMID:14638698 PMID:21996275 PMID:22131394
NCBI chr 8:97,175,657...97,175,733
Ensembl chr 8:97,175,657...97,175,733
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Jam3
junctional adhesion molecule 3
ISO
ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts ClinVar Annotator: match by OMIM:613730
OMIM ClinVar
PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:32860008
NCBI chr 8:28,147,110...28,208,466
Ensembl chr 8:28,147,111...28,208,466
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Aldh18a1
aldehyde dehydrogenase 18 family, member A1
ISO
ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A DNA:mutations:cds:p.V243L, p.R252Q(human) ClinVar Annotator: match by OMIM:601162
OMIM ClinVar
PMID:8779323 PMID:9973297 PMID:24913064 PMID:25741868 PMID:26026163 PMID:26297558 PMID:28492532 , PMID:26297558
RGD:11056004
NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425 Ensembl chr 1:259,641,676...259,674,425
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P3h2
prolyl 3-hydroxylase 2
ISO
ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration ClinVar Annotator: match by OMIM:614292 ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM ClinVar
PMID:21885030 PMID:24172257 PMID:25469533 PMID:25741868
NCBI chr11:78,028,885...78,169,746
Ensembl chr11:78,029,038...78,169,648
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Ftl1
ferritin light chain 1
ISO
DNA:deletion:5' utr: (human) ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts ClinVar Annotator: match by term: Hyperferritinemia cataract syndrome ClinVar Annotator: match by OMIM:600886 DNA:mutations:5'utr:
ClinVar OMIM
PMID:2336358 PMID:7492760 PMID:7493028 PMID:7669675 PMID:8233801 PMID:8781450 PMID:9226182 PMID:9292547 PMID:9414300 PMID:9414313 PMID:9726965 PMID:10366790 PMID:10366804 PMID:10383191 PMID:10759702 PMID:11703332 PMID:11849230 PMID:12199804 PMID:12200611 PMID:14662596 PMID:15690351 PMID:16900584 PMID:17182944 PMID:18414213 PMID:19176363 PMID:19800271 PMID:21907119 PMID:22881709 PMID:23300176 PMID:23421845 PMID:24766965 PMID:25741868 PMID:26633542 PMID:27096259 PMID:28492532 , PMID:9292547 , PMID:22020773
RGD:1598966 , RGD:5509864
NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
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Gys1
glycogen synthase 1
ISO
ClinVar Annotator: match by term: Hyperferritinemia cataract syndrome
ClinVar
PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092
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Fam126a
family with sequence similarity 126, member A
ISO
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar Annotator: match by OMIM:610532
OMIM ClinVar
PMID:16951682 PMID:17928815 PMID:21911699 PMID:25741868 PMID:28492532
NCBI chr 4:7,661,710...7,770,179
Ensembl chr 4:7,661,558...7,770,232
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Gls
glutaminase
ISO
ClinVar Annotator: match by term: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
OMIM ClinVar
PMID:30239721
NCBI chr 9:54,212,622...54,284,879
Ensembl chr 9:54,212,767...54,284,872
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Six6
SIX homeobox 6
ISO
ClinVar Annotator: match by OMIM:212550 ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532
NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
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Nhs
NHS actin remodeling regulator
ISO
ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 3
ClinVar
PMID:25741868
NCBI chr X:34,312,102...34,675,912
Ensembl chr X:34,623,405...34,673,742
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Itm2b
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica ClinVar Annotator: match by OMIM:117300
OMIM ClinVar
PMID:5457846 PMID:10781099 PMID:25741868
NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
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Srd5a3
steroid 5 alpha-reductase 3
ISO
ClinVar Annotator: match by OMIM:612713
OMIM ClinVar
PMID:18781183 PMID:20700148
NCBI chr14:34,554,769...34,570,423
Ensembl chr14:34,556,220...34,570,356
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Lens subluxation ClinVar Annotator: match by term: Lens dislocation
ClinVar
PMID:7611299 PMID:7870075 PMID:8040326 PMID:8541880 PMID:8653794 PMID:8723076 PMID:8791520 PMID:8894692 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9837823 PMID:10533071 PMID:10633129 PMID:10874320 PMID:11143906 PMID:11700157 PMID:11826022 PMID:11992479 PMID:12203987 PMID:12402346 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15241795 PMID:16220557 PMID:16222657 PMID:16835936 PMID:16971892 PMID:17253931 PMID:17418587 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:18087243 PMID:18615205 PMID:19089573 PMID:19159394 PMID:19293843 PMID:19328768 PMID:19839986 PMID:21542060 PMID:21895641 PMID:21932315 PMID:22772377 PMID:23577066 PMID:24033266 PMID:24161884 PMID:24199744 PMID:24793577 PMID:24941995 PMID:25053872 PMID:25326635 PMID:25504618 PMID:25741868 PMID:25812041 PMID:25852444 PMID:26133393 PMID:28492532 PMID:29543232 PMID:31227806
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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Tfap2a
transcription factor AP-2 alpha
ISO
ClinVar Annotator: match by term: Lens subluxation
ClinVar
PMID:25741868
NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
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Cav1
caveolin 1
ISO
ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
OMIM ClinVar
PMID:11739396 PMID:18237401 PMID:25356970 PMID:25898808
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
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Sil1
SIL1 nucleotide exchange factor
ISS ISO
OMIM:248800 ClinVar Annotator: match by term: Marinesco-Sjögren syndrome
MouseDO ClinVar
PMID:10665502 PMID:12692552 PMID:16282977 PMID:16282978 PMID:17026626 PMID:17309654 PMID:18285827 PMID:19471582 PMID:20111056 PMID:22995991 PMID:23062754 PMID:24176978 PMID:24631270 PMID:25741868 PMID:26467025 PMID:26733775 PMID:28492532
NCBI chr18:28,067,476...28,302,008
Ensembl chr18:28,067,484...28,301,863
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Col11a1
collagen type XI alpha 1 chain
susceptibility
ISO
DNA:SNP:splice junction: ClinVar Annotator: match by term: Marshall syndrome ClinVar Annotator: match by OMIM:154780 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:9129742 PMID:9529347 PMID:9792885 PMID:10486316 PMID:13520885 PMID:17236192 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32963807 , PMID:9529347
RGD:1600881
NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
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Col11a1
collagen type XI alpha 1 chain
ISO
ClinVar Annotator: match by term: Marshall/Stickler syndrome
ClinVar
PMID:1536174 PMID:10486316
NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
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Rab3gap1
RAB3 GTPase activating protein catalytic subunit 1
ISO
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar
PMID:23420520 PMID:29300443
NCBI chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620
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Rab3gap2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
ClinVar Annotator: match by term: Cataract-intellectual disability-hypogonadism syndrome ClinVar Annotator: match by term: Martsolf syndrome ClinVar Annotator: match by OMIM:212720
OMIM ClinVar
PMID:16532399 PMID:18414213 PMID:23420520 PMID:24891604 PMID:25741868 PMID:28492532 PMID:29300443
NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
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Kcna4
potassium voltage-gated channel subfamily A member 4
ISO
ClinVar Annotator: match by term: MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM
ClinVar OMIM
PMID:23181898 PMID:27582084
NCBI chr 3:98,293,295...98,300,763
Ensembl chr 3:98,297,554...98,300,680
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Msmo1
methylsterol monooxygenase 1
ISO
ClinVar Annotator: match by term: MICROCEPHALY, CONGENITAL CATARACTS, AND PSORIASIFORM DERMATITIS ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis
ClinVar OMIM
PMID:21285510 PMID:24144731
NCBI chr16:26,859,441...26,875,880
Ensembl chr16:26,859,397...26,875,973
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Arl2
ADP-ribosylation factor like GTPase 2
ISO
ClinVar Annotator: match by term: MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1
OMIM ClinVar
PMID:30945270
NCBI chr 1:221,504,150...221,516,191
Ensembl chr 1:221,504,170...221,516,110
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Smad4
SMAD family member 4
ISO
RGD
PMID:20735985
RGD:12880033
NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
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Vsx2
visual system homeobox 2
ISO
ClinVar Annotator: match by null
ClinVar
PMID:11341888 PMID:17661825
NCBI chr 6:108,285,031...108,308,588
Ensembl chr 6:108,285,822...108,308,587
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
ClinVar Annotator: match by term: Microspherophakia
ClinVar
PMID:19361779 PMID:20179738 PMID:20617341 PMID:21081970 PMID:22025892 PMID:25741868 PMID:28492532
NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
OMIM
NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
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Gfer
growth factor, augmenter of liver regeneration
ISO
ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
OMIM ClinVar
PMID:8627443 PMID:18414213 PMID:19409522 PMID:20593814 PMID:25269795 PMID:25326635 PMID:25741868 PMID:26018198 PMID:26757139 PMID:28155230 PMID:28812649
NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts
ClinVar
PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 PMID:23329375 PMID:23394784 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27058611 PMID:27147545 PMID:27153395 PMID:28492532
NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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Cryab
crystallin, alpha B
ISO
ClinVar Annotator: match by term: Alpha-B crystallinopathy ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 2 ClinVar Annotator: match by OMIM:608810
OMIM ClinVar
PMID:570292 PMID:8000975 PMID:9731540 PMID:11013455 PMID:12601044 PMID:12812987 PMID:14681890 PMID:16483541 PMID:21130652 PMID:21337604 PMID:21920752 PMID:24033266 PMID:25741868 PMID:26265630 PMID:26542570 PMID:27226619 PMID:28492532 PMID:28798025 PMID:32420686
NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
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Nhs
NHS actin remodeling regulator
ISO
DNA:snp, insertion, nonsense mutations:multiple (human) ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar Annotator: match by OMIM:302350
ClinVar OMIM
PMID:458526 PMID:2246772 PMID:14564667 PMID:15623749 PMID:16736028 PMID:17256798 PMID:18018428 PMID:18949062 PMID:20882036 PMID:23757202 PMID:24968223 PMID:25266737 PMID:25741868 PMID:27148795 PMID:27159028 PMID:28492532 , PMID:16736028
RGD:1598795
NCBI chr X:34,312,102...34,675,912
Ensembl chr X:34,623,405...34,673,742
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Ints1
integrator complex subunit 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES
ClinVar OMIM
PMID:28763441 PMID:30622326 PMID:31428919
NCBI chr12:16,950,704...16,974,896
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Nacc1
nucleus accumbens associated 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
OMIM ClinVar
PMID:25741868 PMID:28132692
NCBI chr19:25,783,686...25,801,526
Ensembl chr19:25,783,900...25,801,526
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Gemin4
gem (nuclear organelle) associated protein 4
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
ClinVar OMIM
PMID:25558065 PMID:25741868 PMID:27878435
NCBI chr10:64,364,808...64,375,885
Ensembl chr10:64,368,809...64,375,816
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
ClinVar
NCBI chr 3:95,733,810...95,954,987
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Pax6
paired box 6
ISO
ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies ClinVar Annotator: match by OMIM:136520
OMIM ClinVar
PMID:8640214 PMID:9727514 PMID:9931324 PMID:10441571 PMID:12868034 PMID:15086958 PMID:15629294 PMID:16407227 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532
NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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Pik3c2a
phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
ISO
ClinVar Annotator: match by term: OCULOSKELETODENTAL SYNDROME
OMIM ClinVar
PMID:25741868 PMID:31034465
NCBI chr 1:185,210,922...185,326,314
Ensembl chr 1:185,210,922...185,326,314
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Opa3
outer mitochondrial membrane lipid metabolism regulator OPA3
ISO
ClinVar Annotator: match by term: Optic atrophy and cataract, autosomal dominant ClinVar Annotator: match by OMIM:165300
OMIM ClinVar
PMID:15342707 PMID:24136862 PMID:25159689 PMID:25205859 PMID:25741868 PMID:28081242 PMID:28492532
NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
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Abhd12
abhydrolase domain containing 12, lysophospholipase
ISO
ClinVar Annotator: match by term: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract ClinVar Annotator: match by OMIM:612674
OMIM ClinVar
PMID:20797687 PMID:23806086 PMID:24088041 PMID:24697911 PMID:25741868 PMID:26257172 PMID:26467025 PMID:28492532 PMID:29571850
NCBI chr 3:146,630,298...146,690,375
Ensembl chr 3:146,630,299...146,690,375
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Cryab
crystallin, alpha B
ISO
ClinVar Annotator: match by term: Posterior polar cataract
ClinVar
NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
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Pitx3
paired-like homeodomain 3
ISO
ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities DNA:deletion:exon:c.650delG(human)
ClinVar
PMID:15286169 PMID:16565358 , PMID:16565358
RGD:11535073
NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
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Mir204
microRNA 204
ISO
ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract
OMIM ClinVar
PMID:26056285
NCBI chr 1:240,403,000...240,403,109
Ensembl chr 1:240,403,000...240,403,109
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Trpm3
transient receptor potential cation channel, subfamily M, member 3
ISO
ClinVar Annotator: match by term: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
ClinVar
PMID:26056285
NCBI chr 1:239,741,572...240,757,583
Ensembl chr 1:240,355,149...240,757,583
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Rdh11
retinol dehydrogenase 11
ISO
ClinVar Annotator: match by OMIM:616108
OMIM ClinVar
PMID:24916380
NCBI chr 6:102,356,498...102,372,618
Ensembl chr 6:102,356,492...102,372,611
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Agk
acylglycerol kinase
ISO
ClinVar Annotator: match by term: Sengers syndrome ClinVar Annotator: match by term: Cataract and cardiomyopathy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:212350
OMIM ClinVar CTD
PMID:3560758 PMID:15168109 PMID:22277967 PMID:22284826 PMID:22415731 PMID:23266196 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26582918 PMID:26633545 PMID:28492532
NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801
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Dennd11
DENN domain containing 11
ISO
ClinVar Annotator: match by term: Cataract and cardiomyopathy
ClinVar
PMID:22277967 PMID:22284826 PMID:28492532
NCBI chr 4:68,569,308...68,597,626
Ensembl chr 4:68,569,691...68,597,586
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23266196
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Cat
catalase
treatment
ISO
protein:decreased activity:serum:
RGD
PMID:23781296 , PMID:16129095
RGD:9068934 , RGD:10003112
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
RGD
PMID:21501079
RGD:10045354
NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
susceptibility no_association
ISO
DNA:missense mutation:cds:p.D312N (human) DNA:missense mutation:cds:p.K751Q (human)
RGD
PMID:24868140 , PMID:21599457
RGD:10401084 , RGD:10401083
NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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Ghr
growth hormone receptor
ISO
RGD
PMID:16129095
RGD:10003112
NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:16129095
RGD:10003112
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
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Gsr
glutathione-disulfide reductase
ISO
RGD
PMID:12518238
RGD:10401829
NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
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Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:22446016
RGD:14700972
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:10892871
RGD:8547933
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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Gstt1
glutathione S-transferase theta 1
ISO
RGD
PMID:22446016
RGD:14700972
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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Hspa1b
heat shock protein family A (Hsp70) member 1B
susceptibility
ISO
DNA:SNP: :1267A>G (human)
RGD
PMID:23666708
RGD:8662462
NCBI chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815
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Mt2A
metallothionein 2A
ISO
RGD
PMID:9804143
RGD:10412648
NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
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Nat2
N-acetyltransferase 2
ISO
RGD
PMID:16251120
RGD:8552653
NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
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Ogg1
8-oxoguanine DNA glycosylase
susceptibility
ISO
DNA:missense mutation:cds:p.S326C (human)
RGD
PMID:24868140
RGD:10401084
NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
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Sirt1
sirtuin 1
ISO
RGD
PMID:21501079
RGD:10045354
NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
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Wrn
WRN RecQ like helicase
susceptibility no_association
ISO
DNA:missense mutation:cds:p.C1367R (rs1346044) (human)
RGD
PMID:23334603 , PMID:20808731
RGD:10042984 , RGD:10042985
NCBI chr16:62,483,773...62,619,018
Ensembl chr16:62,483,761...62,615,375
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:missense mutation:cds:p.G399A (human)
RGD
PMID:21599457
RGD:10401083
NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
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Xylt2
xylosyltransferase 2
ISO
ClinVar Annotator: match by term: Spondyloocular syndrome, autosomal recessive
ClinVar
PMID:16571645 PMID:25741868 PMID:26027496 PMID:30496831
NCBI chr10:82,386,003...82,399,485
Ensembl chr10:82,386,005...82,399,485
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Slc2a1
solute carrier family 2 member 1
ISO
ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects
ClinVar OMIM
PMID:10980529 PMID:11477212 PMID:12325075 PMID:15180870 PMID:16949238 PMID:17052934 PMID:18606970 PMID:19798636 PMID:20129935 PMID:20417043 PMID:21069159 PMID:21135204 PMID:21555602 PMID:21791420 PMID:21832227 PMID:23280796 PMID:23340081 PMID:23448551 PMID:25108116 PMID:25326635 PMID:25487684 PMID:25564316 PMID:25741868 PMID:25982116 PMID:26216499 PMID:26537434 PMID:26598494 PMID:28116237 PMID:28492532
NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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Bcor
BCL6 co-repressor
ISO
ClinVar Annotator: match by term: Oculofaciocardiodental syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:300166
OMIM ClinVar CTD
PMID:15004558 PMID:15770227 PMID:16829040 PMID:17517692 PMID:18414213 PMID:19367324 PMID:21740180 PMID:22983184 PMID:23815237 PMID:24728327 PMID:25326637 PMID:25620158 PMID:25741868 PMID:26694549 PMID:28317252 PMID:28492532 PMID:29058245
NCBI chr X:11,570,155...11,692,022
Ensembl chr X:11,648,989...11,691,099
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Epg5
ectopic P-granules autophagy protein 5 homolog
ISO
ClinVar Annotator: match by term: Vici syndrome ClinVar Annotator: match by term: Absent corpus callosum cataract immunodeficiency ClinVar Annotator: match by OMIM:242840 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3344762 PMID:23222957 PMID:23674064 PMID:24033266 PMID:25331754 PMID:25741868 PMID:26854214 PMID:26917586 PMID:27343256 PMID:27577878 PMID:28168853 PMID:28492532 PMID:29130391 PMID:32313153
NCBI chr18:74,299,965...74,397,115
Ensembl chr18:74,299,931...74,395,547
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Rab18
RAB18, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Warburg micro syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr17:59,844,781...59,876,170
Ensembl chr17:59,844,781...59,876,164
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Rab3gap1
RAB3 GTPase activating protein catalytic subunit 1
ISO
ClinVar Annotator: match by OMIM:600118 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Warburg micro syndrome
ClinVar CTD
PMID:25741868 PMID:26467025
NCBI chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620
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Rab3gap2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
ClinVar Annotator: match by term: Warburg micro syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
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Tbc1d20
TBC1 domain family, member 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158
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Zranb3
zinc finger RANBP2-type containing 3
ISO
ClinVar Annotator: match by term: Warburg micro syndrome
ClinVar
NCBI chr13:44,661,375...44,812,430
Ensembl chr13:44,661,398...44,798,543
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Rab3gap1
RAB3 GTPase activating protein catalytic subunit 1
ISO
ClinVar Annotator: match by term: Warburg micro syndrome 1
ClinVar OMIM
PMID:8249951 PMID:8958326 PMID:10465117 PMID:15216543 PMID:15696165 PMID:17351351 PMID:18286824 PMID:18414213 PMID:20512159 PMID:20584031 PMID:23420520 PMID:25326635 PMID:25741868 PMID:26138576 PMID:26421802 PMID:26467025 PMID:26852512 PMID:28492532 PMID:29300443 PMID:31319225
NCBI chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620
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Zranb3
zinc finger RANBP2-type containing 3
ISO
ClinVar Annotator: match by term: Warburg micro syndrome 1
ClinVar
PMID:15696165 PMID:25741868 PMID:26138576 PMID:26467025 PMID:28492532 PMID:29300443
NCBI chr13:44,661,375...44,812,430
Ensembl chr13:44,661,398...44,798,543
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Rab3gap2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
ClinVar Annotator: match by term: Warburg micro syndrome 2 ClinVar Annotator: match by OMIM:614225
OMIM ClinVar
PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29300443
NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
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Rab18
RAB18, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Warburg micro syndrome 3 ClinVar Annotator: match by OMIM:614222
OMIM ClinVar
PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443
NCBI chr17:59,844,781...59,876,170
Ensembl chr17:59,844,781...59,876,164
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Tbc1d20
TBC1 domain family, member 20
ISO
ClinVar Annotator: match by term: Warburg micro syndrome 4 ClinVar Annotator: match by OMIM:615663
OMIM ClinVar
PMID:24239381 PMID:25741868
NCBI chr 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
ClinVar OMIM
PMID:2005308 PMID:4750422 PMID:7802039 PMID:7870075 PMID:8653794 PMID:8723076 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9837823 PMID:10464652 PMID:10533071 PMID:10633129 PMID:10930463 PMID:11068200 PMID:11524736 PMID:11700157 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12203987 PMID:12203992 PMID:12446365 PMID:12525539 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15880509 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16971892 PMID:17253931 PMID:17418587 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18310266 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19353630 PMID:19533785 PMID:19618372 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20375004 PMID:20564469 PMID:21542060 PMID:21883168 PMID:21895641 PMID:21907952 PMID:22772377 PMID:23506379 PMID:23577066 PMID:23608731 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24161884 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25326635 PMID:25504618 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25907466 PMID:25944730 PMID:26272055 PMID:26333736 PMID:26498160 PMID:26621581 PMID:26787436 PMID:27146836 PMID:27153395 PMID:27353645 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27930701 PMID:28050602 PMID:28098115 PMID:28492532 PMID:28539832 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28973303 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29848614 PMID:29907982 PMID:30311386 PMID:30675029 PMID:30739908 PMID:31163209 PMID:31211626
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
G
Nhs
NHS actin remodeling regulator
ISO
ClinVar Annotator: match by term: Zonular cataract and nystagmus
ClinVar
PMID:25741868
NCBI chr X:34,312,102...34,675,912
Ensembl chr X:34,623,405...34,673,742
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all