RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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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Term: | cataract |
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Accession: | DOID:83
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browse the term
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Definition: | A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. (DO) |
Synonyms: | exact_synonym: | Lens Opacification; cataracts; lens opacities; lens opacity; membranous cataract; membranous cataracts; pseudoaphakia; pseudoaphakias |
| narrow_synonym: | CONGENITAL NUCLEAR CATARACT; CORTICAL PULVERULENT CATARACT; congenital cataract |
| primary_id: | MESH:D002386 |
| xref: | EFO:0001059; ICD10CM:H26; ICD9CM:366.8; MIM:PS116200; MONDO:0005129 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Acvr1 |
activin A receptor type 1 |
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ISO |
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RGD |
PMID:21504908 |
RGD:8547757 |
NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241
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Adam10 |
ADAM metallopeptidase domain 10 |
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IEP |
mRNA:increased expression:retina |
RGD |
PMID:23941810 |
RGD:13703031 |
NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
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Agk |
acylglycerol kinase |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
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NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934
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Akr1b1 |
aldo-keto reductase family 1 member B1 |
treatment susceptibility |
IDA ISO IMP |
associated with Galactosemia human gene in mouse model associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.(AC)n (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21329682 PMID:21376710 PMID:25541468 PMID:28137510 PMID:17444799 PMID:21329682 PMID:18452283 PMID:24360973 More...
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RGD:1626083, RGD:8548638, RGD:8548671, RGD:8548672 |
NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
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Aldh18a1 |
aldehyde dehydrogenase 18 family, member A1 |
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ISO |
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) |
RGD |
PMID:26320891 |
RGD:13434923 |
NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
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Aldh3a1 |
aldehyde dehydrogenase 3 family, member A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28038895 |
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NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681
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Anxa1 |
annexin A1 |
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ISO IEP |
DNA, protein:polymorphism: :p.R212I (mouse) |
RGD |
PMID:19003866 PMID:1385581 |
RGD:7421556, RGD:7421566 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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Atm |
ATM serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16799786 |
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atp2b1 |
ATPase plasma membrane Ca2+ transporting 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15003327 |
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NCBI chr 7:33,735,595...33,845,226
Ensembl chr 7:33,735,871...33,843,295
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B2m |
beta-2 microglobulin |
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ISO |
associated with Diabetic Nephropathies |
RGD |
PMID:12567748 |
RGD:2311237 |
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bcor |
BCL6 co-repressor |
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ISO |
DNA:mutations:cds: ClinVar Annotator: match by term: Congenital cataract |
ClinVar RGD |
PMID:24728327 PMID:26694549 PMID:28492532 PMID:15004558 |
RGD:1600504 |
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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Bfsp1 |
beaded filament structural protein 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:25741868 |
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NCBI chr 3:131,195,087...131,252,668
Ensembl chr 3:131,195,087...131,229,337
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Bfsp2 |
beaded filament structural protein 2 |
susceptibility |
ISO |
protein:missense mutation:exon:p.R287W (human) ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract |
ClinVar RGD |
PMID:25741868 PMID:10729115 |
RGD:1600516 |
NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399
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Brca2 |
BRCA2, DNA repair associated |
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IAGP IMP |
DNA:nonsense mutation |
RGD |
PMID:16964288 PMID:16964288 |
RGD:1599505, RGD:1599505 |
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Brca2m1Uwm |
BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison |
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IMP |
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RGD |
PMID:16964288 |
RGD:1599505 |
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Casp3 |
caspase 3 |
treatment |
IEP |
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RGD |
PMID:23508955 |
RGD:13782357 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp9 |
caspase 9 |
treatment |
IEP |
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RGD |
PMID:23508955 |
RGD:13782357 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Cat |
catalase |
treatment no_association |
ISO IEP |
protein:decreased activity:erythrocyte: protein:decreased activity:lens: |
RGD |
PMID:15295623 PMID:21635889 PMID:11408722 |
RGD:9068905, RGD:9068909, RGD:9068911 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cck |
cholecystokinin |
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IDA |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:16989746 |
RGD:2313636 |
NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
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Ccl11 |
C-C motif chemokine ligand 11 |
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IEP |
associated with Diabetes Mellitus, Type 1;protein:increased expression:serum |
RGD |
PMID:23049540 |
RGD:7248415 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
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IAGP IMP |
in KO rat |
RGD |
PMID:12036912 PMID:30893315 PMID:17030811 |
RGD:619590, RGD:126908018, RGD:2293616 |
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Cdkn1bem1Musc |
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc |
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IMP |
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RGD |
PMID:30893315 |
RGD:126908018 |
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Cdkn1bem4Musc |
cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc |
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IMP |
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RGD |
PMID:30893315 |
RGD:126908018 |
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Cdkn1bwe |
cyclin-dependent kinase inhibitor 1B; white eye mutation |
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IAGP |
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RGD |
PMID:17030811 PMID:12036912 |
RGD:2293616, RGD:619590 |
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Clock |
clock circadian regulator |
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ISO |
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RGD |
PMID:21149897 |
RGD:10401871 |
NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400
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Col18a1 |
collagen type XVIII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Cataract |
ClinVar |
PMID:12415512 PMID:16199547 PMID:19390655 PMID:25456301 PMID:28492532 |
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NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
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Col2a1 |
collagen type II alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8317498 |
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NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Col4a1 |
collagen type IV alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:17696175 PMID:20301768 PMID:25741868 |
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NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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Copb1 |
COPI coat complex subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Cataract |
ClinVar |
PMID:25741868 PMID:33632302 |
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NCBI chr 1:168,404,334...168,438,589
Ensembl chr 1:168,404,335...168,438,416
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Cryaa |
crystallin, alpha A |
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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 RGD |
PMID:9467006 PMID:17724170 PMID:17937925 PMID:18587492 PMID:19503744 PMID:22045060 PMID:22140512 PMID:22347476 PMID:23379525 PMID:23441109 PMID:23508780 PMID:25018622 PMID:25694240 PMID:25741868 PMID:26694549 PMID:28179137 PMID:28492532 PMID:28839118 PMID:29386872 PMID:1424724 PMID:19120020 PMID:15042443 More...
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RGD:1600993, RGD:13503352, RGD:1600984 |
NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
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Cryab |
crystallin, alpha B |
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ISO IEP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital cataract protein:decreased expression:lens: |
CTD ClinVar RGD |
PMID:1560021 PMID:2299599 PMID:11577372 PMID:16483541 PMID:16793013 PMID:17116488 PMID:20171888 PMID:21920752 PMID:22106715 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25208129 PMID:25741868 PMID:26694549 PMID:26961874 PMID:27896284 PMID:28492532 PMID:28518168 PMID:28919577 PMID:32420686 PMID:34237397 PMID:34983005 PMID:19120020 More...
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RGD:13503352 |
NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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Cryba1 |
crystallin, beta A1 |
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ISO IMP |
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:15721615 PMID:17931883 PMID:24520233 PMID:20142846 PMID:21850182 More...
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RGD:10059634, RGD:126925760, RGD:2303652, RGD:10059653, RGD:10059642, RGD:10059641 |
NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726
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Cryba1Nuc1Dbsa |
crystallin, beta A1;Nuc1 mutant, Dbsa |
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IMP |
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RGD |
PMID:15721615 PMID:17931883 |
RGD:126925760, RGD:2303652 |
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Cryba4 |
crystallin, beta A4 |
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IEP ISO |
protein:decreased expression:lens ClinVar Annotator: match by term: Congenital cataract |
ClinVar RGD |
PMID:25741868 PMID:26694549 PMID:28272538 PMID:28492532 PMID:10726880 |
RGD:2303653 |
NCBI chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221
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Crybb1 |
crystallin, beta B1 |
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ISO |
DNA:nonsense mutation:cds:p.G220X (human) ClinVar Annotator: match by term: Congenital cataract CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:12360425 PMID:25741868 PMID:26694549 PMID:28272538 PMID:12360425 |
RGD:728217 |
NCBI chr12:44,369,734...44,383,344
Ensembl chr12:44,369,735...44,383,344
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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: Congenital cataract DNA:nonsense mutation: :p.Q155X (human) |
ClinVar RGD |
PMID:2240043 PMID:8812489 PMID:9158139 PMID:10634616 PMID:11424921 PMID:15889016 PMID:17234267 PMID:25741868 PMID:26694549 PMID:27385965 PMID:28492532 PMID:29395391 PMID:9158139 PMID:11424921 More...
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RGD:1601011, RGD:734832 |
NCBI chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671
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Crybb3 |
crystallin, beta B3 |
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ISO |
ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract | ClinVar Annotator: match by term: Congenital nuclear cataract |
ClinVar |
PMID:15914629 PMID:25741868 PMID:26694549 PMID:28492532 |
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NCBI chr12:43,557,103...43,562,120
Ensembl chr12:43,557,103...43,562,120
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Cryga |
crystallin, gamma A |
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ISS ISO |
OMIM:601371 ClinVar Annotator: match by term: Congenital cataract |
MouseDO ClinVar |
PMID:25741868 PMID:28839118 |
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NCBI chr 9:66,482,176...66,484,638
Ensembl chr 9:66,482,176...66,509,896
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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 RGD |
PMID:10914683 PMID:11773036 PMID:24281366 PMID:26694549 PMID:10521291 |
RGD:1601015 |
NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626
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Crygd |
crystallin, gamma D |
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TAS ISO |
ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9927684 PMID:12011157 PMID:12676897 PMID:17724170 PMID:21827768 PMID:25403472 PMID:25741868 PMID:26694549 PMID:28474685 PMID:28492532 PMID:30242128 PMID:7849105 More...
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RGD:1298817 |
NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067
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Crygs |
crystallin, gamma S |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16141006 |
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NCBI chr11:78,207,170...78,212,273
Ensembl chr11:78,207,170...78,212,273
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Cth |
cystathionine gamma-lyase |
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IDA |
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RGD |
PMID:15683713 |
RGD:1600763 |
NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
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Cyp51 |
cytochrome P450, family 51 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:25741868 |
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NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410 Ensembl chr 6:30,036,865...30,055,410
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Dmd |
dystrophin |
disease_progression |
ISO |
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RGD |
PMID:25489223 |
RGD:12879865 |
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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Dnase2b |
deoxyribonuclease 2 beta |
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ISS |
OMIM:601371 |
MouseDO |
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NCBI chr 2:235,470,915...235,515,211
Ensembl chr 2:235,470,919...235,486,295
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Epha2 |
Eph receptor A2 |
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ISO |
ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:25741868 PMID:26694549 |
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NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117
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Epm2a |
EPM2A glucan phosphatase, laforin |
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ISO |
ClinVar Annotator: match by term: Cataract |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:5,727,111...5,845,338
Ensembl chr 1:5,727,066...5,920,555
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Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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ISO |
DNA:mutation:cds:c.2209T>C (p.S37P) (human) |
RGD |
PMID:25951169 |
RGD:12880390 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18628313 |
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NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Ero1b |
endoplasmic reticulum oxidoreductase 1 beta |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:25741868 PMID:33867527 |
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NCBI chr17:85,861,086...86,003,244
Ensembl chr17:85,929,618...86,003,398
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Eya1 |
EYA transcriptional coactivator and phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:9361030 PMID:15146463 PMID:18220287 PMID:24033266 PMID:24123792 PMID:24429398 PMID:25741868 PMID:26489027 PMID:28492532 PMID:29966037 More...
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NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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Fas |
Fas cell surface death receptor |
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ISO |
associated with Diabetic Retinopathy; mRNA,protein:increased expression:epithelial cell |
RGD |
PMID:12658358 |
RGD:2315757 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:10533071 PMID:24033266 PMID:24740214 PMID:25203624 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Fdft1 |
farnesyl diphosphate farnesyl transferase 1 |
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IAGP |
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RGD |
PMID:16440058 |
RGD:1626611 |
NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287
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Fgf2 |
fibroblast growth factor 2 |
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ISO |
mRNA:increased expression:lens, epithelial cell |
RGD |
PMID:19491954 |
RGD:8554856 |
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Fyco1 |
FYVE and coiled-coil domain autophagy adaptor 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:25741868 |
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NCBI chr 8:123,412,105...123,479,315
Ensembl chr 8:123,412,112...123,479,021
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G6pd |
glucose-6-phosphate dehydrogenase |
treatment |
IDA |
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RGD |
PMID:24886740 |
RGD:10449123 |
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Galk1 |
galactokinase 1 |
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ISO |
DNA:missense mutation, nonsense mutation:cds:p.V32M, p.E80X (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:7670469 PMID:7670469 |
RGD:1300192 |
NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337
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Gclc |
glutamate-cysteine ligase, catalytic subunit |
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ISS |
OMIM:601371 |
MouseDO |
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NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
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Gcnt2 |
glucosaminyl (N-acetyl) transferase 2 |
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ISO |
DNA:nonsense mutation:exon: ClinVar Annotator: match by term: Congenital cataract |
ClinVar RGD |
PMID:15161861 |
RGD:8693611 |
NCBI chr17:23,796,859...23,901,625
Ensembl chr17:23,796,859...23,901,611
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Gemin4 |
gem (nuclear organelle) associated protein 4 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:25558065 PMID:25741868 PMID:27878435 |
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NCBI chr10:61,062,420...61,073,529
Ensembl chr10:61,066,425...61,073,431 Ensembl chr10:61,066,425...61,073,431
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G |
Gja3 |
gap junction protein, alpha 3 |
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IAGP ISO |
DNA:missense mutation ClinVar Annotator: match by term: Congenital cataract |
ClinVar RGD |
PMID:15208569 PMID:16885921 PMID:17615540 PMID:19182255 PMID:21031021 PMID:21866213 PMID:22843197 PMID:25148791 PMID:25741868 PMID:26694549 PMID:27609163 PMID:28492532 PMID:28839118 PMID:29461512 PMID:29934635 PMID:34169787 PMID:36161833 PMID:16271086 More...
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RGD:1599824 |
NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810
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G |
Gja8 |
gap junction protein, alpha 8 |
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IAGP ISO |
ClinVar Annotator: match by term: Congenital cataract CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9497259 PMID:18334946 PMID:21228318 PMID:23832966 PMID:25003127 PMID:25741868 PMID:26694549 PMID:28392901 PMID:28492532 PMID:28827829 PMID:28839118 PMID:29464339 PMID:30076350 PMID:30498267 PMID:31618082 PMID:33923544 PMID:36161833 PMID:12356818 More...
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RGD:629571 |
NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
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G |
Gja8m1Cas |
gap junction protein, alpha 8; mutant 1 Cas |
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IAGP |
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RGD |
PMID:12356818 |
RGD:629571 |
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G |
Gpx1 |
glutathione peroxidase 1 |
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IDA |
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RGD |
PMID:23194826 |
RGD:11353787 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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G |
Gsr |
glutathione-disulfide reductase |
treatment |
ISO IDA |
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RGD |
PMID:947404 PMID:24530554 |
RGD:1600697, RGD:10401885 |
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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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 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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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 chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Hsf4 |
heat shock transcription factor 4 |
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ISO |
autosomal dominant lamellar cataract, OMIM:116800 ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract |
ClinVar RGD |
PMID:25741868 PMID:12089525 |
RGD:1599774 |
NCBI chr19:33,147,755...33,153,479
Ensembl chr19:33,147,755...33,153,479
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G |
Iars2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:8409271 PMID:25130867 PMID:25741868 |
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NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501
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G |
Ifng |
interferon gamma |
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ISO |
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RGD |
PMID:8188461 |
RGD:8157612 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il18 |
interleukin 18 |
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IEP |
associated with Diabetes Mellitus, Type 2;mRNA:increased expression:lens |
RGD |
PMID:18006521 PMID:21591858 |
RGD:8655879, RGD:8655881 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Lemd2 |
LEM domain nuclear envelope protein 2 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:25741868 |
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NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626
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G |
Lim2 |
lens intrinsic membrane protein 2 |
onset |
ISO ISS |
DNA:missense mutation:cds: p.F105V (human) ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Cortical pulverulent cataract OMIM:601371 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:11917274 PMID:25741868 PMID:28492532 PMID:32202185 PMID:33078099 PMID:33708862 PMID:33923544 PMID:35736209 PMID:11917274 More...
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RGD:1600309 |
NCBI chr 1:93,837,597...93,843,769
Ensembl chr 1:93,837,597...93,843,769
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G |
Lonp1 |
lon peptidase 1, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:25741868 |
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NCBI chr 9:1,447,444...1,459,771
Ensembl chr 9:1,447,447...1,459,771
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G |
Lss |
lanosterol synthase |
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ISO ISS |
DNA:missense mutations:cds:p.W581R, p.G588S (human) OMIM:601371 ClinVar Annotator: match by term: Congenital cataract |
MouseDO ClinVar RGD |
PMID:25741868 PMID:26200341 |
RGD:126925964 |
NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
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G |
Maf |
MAF bZIP transcription factor |
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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 RGD |
PMID:25741868 PMID:26694549 PMID:11772997 PMID:24664492 PMID:17374726 |
RGD:1547889, RGD:13204738, RGD:13204737 |
NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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G |
Map2k1 |
mitogen activated protein kinase kinase 1 |
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IMP |
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RGD |
PMID:11222509 |
RGD:12801446 |
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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G |
Miat |
myocardial infarction associated transcript |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:28272538 |
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NCBI chr12:44,414,620...44,429,852
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G |
Mip |
major intrinsic protein of lens fiber |
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ISO |
ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:10802646 PMID:24120416 PMID:25741868 PMID:26694549 PMID:28492532 PMID:29770612 PMID:10802646 More...
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RGD:1599936 |
NCBI chr 7:643,502...653,121
Ensembl chr 7:647,315...654,400
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G |
Mir184 |
microRNA 184 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:25741868 |
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NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210
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G |
Mir221 |
microRNA 221 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926320 |
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NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573
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G |
Mlh1 |
mutL homolog 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:25741868 PMID:26467025 PMID:26694549 PMID:27468915 PMID:28492532 |
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NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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G |
Mmaa |
metabolism of cobalamin associated A |
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ISO |
ClinVar Annotator: match by term: Cataract |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:28,619,060...28,649,319
Ensembl chr19:28,619,087...28,649,319
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G |
Mmp3 |
matrix metallopeptidase 3 |
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ISO |
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RGD |
PMID:17062942 |
RGD:8693669 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:SNPs, haplotype: : 677C>T, 1298A>C (human) |
RGD |
PMID:16310481 |
RGD:7387253 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Ndrg2 |
NDRG family member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22043305 |
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NCBI chr15:24,600,981...24,609,621
Ensembl chr15:24,600,982...24,609,626
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G |
Ndufb3 |
NADH:ubiquinone oxidoreductase subunit B3 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:25741868 |
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NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
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G |
Nectin3 |
nectin cell adhesion molecule 3 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
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NCBI chr11:54,362,712...54,469,351
Ensembl chr11:54,364,487...54,462,519
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
disease_progression |
ISO |
DNA:snps, haplotype:5' utr, intron:multiple (human) |
RGD |
PMID:20064547 |
RGD:6893326 |
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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G |
Nhs |
NHS actin remodeling regulator |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:26694549 |
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NCBI chr X:32,553,300...32,892,961
Ensembl chr X:32,552,026...32,889,992
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
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IMP |
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RGD |
PMID:12714641 |
RGD:4892118 |
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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G |
Ocrl |
OCRL, inositol polyphosphate-5-phosphatase |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:23047739 PMID:25741868 PMID:26694549 PMID:28492532 |
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NCBI chr X:127,089,508...127,140,362
Ensembl chr X:127,089,590...127,140,362
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
susceptibility |
ISO |
DNA:SNP: :p.S326C (rs1052133)(human) |
RGD |
PMID:22306120 |
RGD:8657151 |
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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G |
Pank4 |
pantothenate kinase 4 |
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ISS |
OMIM:601371 |
MouseDO |
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NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
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G |
Pax6 |
paired box 6 |
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ISO ISS |
human gene in a mouse model OMIM:601371 ClinVar Annotator: match by term: Congenital cataract CTD Direct Evidence: marker/mechanism |
MouseDO ClinVar CTD RGD |
PMID:25741868 PMID:26694549 PMID:29178648 PMID:30221735 PMID:10954416 PMID:15161862 More...
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RGD:8552253, RGD:8552372 |
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Pex11b |
peroxisomal biogenesis factor 11 beta |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
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NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495
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G |
Pgrmc1 |
progesterone receptor membrane component 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:25741868 PMID:33867527 |
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NCBI chr X:115,832,865...115,841,060
Ensembl chr X:115,832,884...115,888,682
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Cataract |
ClinVar |
PMID:15378534 PMID:25741868 PMID:26220699 PMID:28166811 PMID:28492532 |
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NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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G |
Pitx3 |
paired-like homeodomain 3 |
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ISO |
DNA:insertion:exon:c.657ins17bp ClinVar Annotator: match by term: Congenital cataract CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9620774 PMID:16565358 PMID:25741868 PMID:15665340 |
RGD:11535076 |
NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892
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G |
Pon1 |
paraoxonase 1 |
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ISO |
associated with Diabetes Mellitus, Type 2;protein:decreased activity:eye, lens (human) |
RGD |
PMID:19439227 |
RGD:8547553 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Prx |
periaxin |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:25741868 |
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NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
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G |
Psmc3 |
proteasome 26S subunit, ATPase 3 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:32500975 |
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NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Cataract |
ClinVar |
PMID:10564585 PMID:25741868 PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
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RGD |
PMID:24270425 |
RGD:12859033 |
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Pxdn |
peroxidasin |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:26694549 PMID:28492532 |
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NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345
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G |
Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:25741868 |
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NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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G |
Sil1 |
SIL1 nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: Cataract |
ClinVar |
PMID:32581362 |
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NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
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G |
Six6 |
SIX homeobox 6 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
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NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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G |
Six6os1 |
Six6 opposite strand transcript 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
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NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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G |
Slc16a12 |
solute carrier family 16, member 12 |
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ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar |
PMID:25741868 PMID:26694549 |
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NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141
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G |
Slc19a1 |
solute carrier family 19 member 1 |
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ISO |
ClinVar Annotator: match by term: Cataract |
ClinVar |
PMID:12415512 PMID:25456301 PMID:28492532 |
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NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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G |
Slc2a1 |
solute carrier family 2 member 1 |
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ISO |
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RGD |
PMID:11222509 |
RGD:12801446 |
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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G |
Slc2a3 |
solute carrier family 2 member 3 |
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IEP |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:12882795 |
RGD:2313618 |
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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G |
Slc33a1 |
solute carrier family 33 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22243965 |
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NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
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G |
Slc4a4 |
solute carrier family 4 member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18614622 |
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NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
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G |
Slc9a1 |
solute carrier family 9 member A1 |
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IMP |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:22407349 |
RGD:8693684 |
NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
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G |
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 chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sord |
sorbitol dehydrogenase |
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ISS |
OMIM:601371 |
MouseDO |
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NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133
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G |
Taldo1 |
transaldolase 1 |
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ISO |
ClinVar Annotator: match by term: Cataract |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
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G |
Tdrd7 |
tudor domain containing 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital cataract |
CTD ClinVar |
PMID:21436445 |
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NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544
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G |
Tp53 |
tumor protein p53 |
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ISO |
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RGD |
PMID:21504908 |
RGD:8547757 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Trpm3 |
transient receptor potential cation channel, subfamily M, member 3 |
|
ISS |
OMIM:601371 |
MouseDO |
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NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717
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G |
Upf3b |
UPF3B, regulator of nonsense mediated mRNA decay |
|
ISO |
ClinVar Annotator: match by term: Cataract |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:116,335,308...116,353,332
Ensembl chr X:116,335,308...116,353,236
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G |
Vim |
vimentin |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital cataract |
CTD ClinVar |
PMID:19126778 PMID:26694549 |
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NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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G |
Vps13b |
vacuolar protein sorting 13 homolog B |
|
ISS |
OMIM:601371 |
MouseDO |
|
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NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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G |
Wfs1 |
wolframin ER transmembrane glycoprotein |
onset |
IMP ISO |
ClinVar Annotator: match by term: Congenital cataract |
ClinVar RGD |
PMID:25741868 PMID:28860598 |
RGD:149735331 |
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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G |
Wfs1em1Ptsn |
wolframin ER transmembrane glycoprotein; ZFN induced mutant 1 |
onset |
IMP |
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RGD |
PMID:28860598 |
RGD:149735331 |
|
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G |
Xdh |
xanthine dehydrogenase |
treatment |
IEP ISO |
ClinVar Annotator: match by term: Cataract |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:30755392 PMID:25860848 |
RGD:13208958 |
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Xrcc1 |
X-ray repair cross complementing 1 |
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ISO |
associated with Radiation Injuries |
RGD |
PMID:18334943 |
RGD:10401127 |
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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G |
Clpb |
ClpB family mitochondrial disaggregase |
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ISO |
ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 |
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NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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Anapc15 |
anaphase promoting complex subunit 15 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,238,640...156,266,005
Ensembl chr 1:156,262,841...156,268,145
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Arap1 |
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,748,622...155,814,186
Ensembl chr 1:155,748,652...155,814,184
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G |
Arhgef17 |
Rho guanine nucleotide exchange factor 17 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,230,607...155,290,163
Ensembl chr 1:155,233,168...155,290,498
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G |
Arrb1 |
arrestin, beta 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061
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G |
Atg16l2 |
autophagy related 16-like 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,687,386...155,703,419
Ensembl chr 1:155,684,564...155,703,420
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G |
C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
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G |
Chrdl2 |
chordin-like 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,343,201...154,370,651
Ensembl chr 1:154,343,201...154,370,640
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G |
Clpb |
ClpB family mitochondrial disaggregase |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 PMID:25597511 PMID:25650066 PMID:25741868 PMID:26916670 PMID:27290639 PMID:27891836 PMID:28492532 PMID:28554332 PMID:28687938 PMID:32219827 PMID:32313153 PMID:32573439 PMID:32820519 PMID:34115842 PMID:34140661 PMID:34782754 PMID:35616898 More...
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NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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G |
Coa4 |
cytochrome c oxidase assembly factor 4 homolog |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,882,199...154,885,445
Ensembl chr 1:154,882,155...154,888,174
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G |
Dhcr7 |
7-dehydrocholesterol reductase |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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G |
Dnajb13 |
DnaJ heat shock protein family (Hsp40) member B13 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963
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G |
Fam168a |
family with sequence similarity 168, member A |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,057,352...155,203,439
Ensembl chr 1:155,057,352...155,201,220
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G |
Fchsd2 |
FCH and double SH3 domains 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,444,471...155,685,350
Ensembl chr 1:155,444,460...155,685,539
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G |
Folr1 |
folate receptor alpha |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667
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G |
Folr2 |
folate receptor beta |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724
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G |
Gdpd5 |
glycerophosphodiester phosphodiesterase domain containing 5 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,679,718...153,761,452
Ensembl chr 1:153,679,718...153,761,446
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G |
Il18bp |
interleukin 18 binding protein |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
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G |
Inppl1 |
inositol polyphosphate phosphatase-like 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500
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G |
Kcne3 |
potassium voltage-gated channel subfamily E regulatory subunit 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020
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G |
Klhl35 |
kelch-like family member 35 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,767,138...153,773,550
Ensembl chr 1:153,767,970...153,773,557
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G |
Krtap5-8 |
keratin associated protein 5-8 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:197,446,125...197,446,817
Ensembl chr 1:197,446,125...197,446,817
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G |
Lamtor1 |
late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,272,116...156,277,687
Ensembl chr 1:156,272,064...156,291,179
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G |
Lipt2 |
lipoyl(octanoyl) transferase 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,504,563...154,506,890
Ensembl chr 1:154,504,563...154,506,890
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G |
Lrtomt |
leucine rich transmembrane and O-methyltransferase domain containing |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,266,655...156,268,704
Ensembl chr 1:156,266,655...156,268,704
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G |
Mir139 |
microRNA 139 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902
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G |
Mir326 |
microRNA 326 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123
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G |
Mrpl48 |
mitochondrial ribosomal protein L48 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,896,663...154,939,285
Ensembl chr 1:154,896,663...154,939,281
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G |
Nadsyn1 |
NAD synthetase 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869
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G |
Neu3 |
neuraminidase 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813
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G |
Numa1 |
nuclear mitotic apparatus protein 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855
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G |
Olr35 |
olfactory receptor 35 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,994,678...154,043,281
Ensembl chr 1:154,041,306...154,043,257
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G |
P2ry2 |
purinergic receptor P2Y2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632
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G |
P2ry6 |
pyrimidinergic receptor P2Y6 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,295,110...155,330,610
Ensembl chr 1:155,295,111...155,330,808
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G |
P4ha3 |
prolyl 4-hydroxylase subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775
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G |
Pde2a |
phosphodiesterase 2A |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,823,590...155,915,434
Ensembl chr 1:155,813,180...155,915,434
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G |
Pgm2l1 |
phosphoglucomutase 2-like 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902
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G |
Phox2a |
paired-like homeobox 2a |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118
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G |
Plekhb1 |
pleckstrin homology domain containing B1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,998,798...155,013,094
Ensembl chr 1:154,998,800...155,016,142
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G |
Pold3 |
DNA polymerase delta 3, accessory subunit |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,417,893...154,456,687
Ensembl chr 1:154,418,084...154,456,665
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G |
Ppme1 |
protein phosphatase methylesterase 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,668,099...154,715,079
Ensembl chr 1:154,668,109...154,715,110
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G |
Rab6a |
RAB6A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,957,870...155,008,922
Ensembl chr 1:154,958,189...154,996,715
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G |
Relt |
RELT, TNF receptor |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196
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G |
Rnf121 |
ring finger protein 121 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:156,377,368...156,439,936
Ensembl chr 1:156,377,364...156,446,826
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G |
Rnf169 |
ring finger protein 169 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,250,462...154,311,867
Ensembl chr 1:154,254,473...154,311,653
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G |
Rps3 |
ribosomal protein S3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,778,363...153,783,663
Ensembl chr 1:153,777,472...153,783,680
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G |
Serpinh1 |
serpin family H member 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
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G |
Slco2b1 |
solute carrier organic anion transporter family, member 2b1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,959,288...154,007,294
Ensembl chr 1:153,959,293...154,007,353
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G |
Snord15a |
small nucleolar RNA, C/D box 15A |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,782,788...153,782,935
Ensembl chr 1:153,782,788...153,782,935
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G |
Spcs2 |
signal peptidase complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,163,724...154,183,152
Ensembl chr 1:154,163,724...154,183,186
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G |
Stard10 |
StAR-related lipid transfer domain containing 10 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:155,722,637...155,748,007
Ensembl chr 1:155,718,389...155,747,094
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G |
Tpbgl |
trophoblast glycoprotein-like |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:153,923,722...153,926,548
Ensembl chr 1:153,925,098...153,926,252
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G |
Ucp2 |
uncoupling protein 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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G |
Ucp3 |
uncoupling protein 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
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G |
Xrra1 |
X-ray radiation resistance associated 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB |
ClinVar |
PMID:28492532 |
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NCBI chr 1:154,183,330...154,247,883
Ensembl chr 1:154,183,377...154,247,895
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G |
Clpb |
ClpB family mitochondrial disaggregase |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597511 PMID:25741868 PMID:28492532 PMID:28687938 PMID:32573439 PMID:34115842 PMID:34782754 PMID:35616898 More...
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NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
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G |
Dcdc1-ps1 |
doublecortin domain containing 1, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532 More...
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NCBI chr 3:92,486,054...92,896,696
Ensembl chr 3:92,718,047...92,896,542
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G |
Dnajc24 |
DnaJ heat shock protein family (Hsp40) member C24 |
|
ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532 More...
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NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:8364574 PMID:10234503 PMID:10737978 PMID:11284764 PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:15150775 PMID:16098226 PMID:17630404 PMID:18483559 PMID:19218613 PMID:22361317 PMID:24138039 PMID:24290376 PMID:25741868 PMID:26661695 PMID:27124303 PMID:27381094 PMID:27431685 PMID:28231309 PMID:28321846 PMID:28492532 PMID:29618921 PMID:30291432 More...
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NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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G |
Immp1l |
inner mitochondrial membrane peptidase subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532 More...
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NCBI chr 3:92,385,329...92,449,559
Ensembl chr 3:92,385,379...92,452,313
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G |
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:1345175 PMID:1684738 PMID:1954207 PMID:2080308 PMID:6988567 PMID:7550230 PMID:7666404 PMID:7951315 PMID:8111279 PMID:8111379 PMID:8364574 PMID:8640214 PMID:8689689 PMID:9138149 PMID:9279758 PMID:9281415 PMID:9452088 PMID:9482572 PMID:9536098 PMID:9727514 PMID:9792406 PMID:9931324 PMID:10234503 PMID:10477494 PMID:10694925 PMID:10737978 PMID:10887930 PMID:11284764 PMID:11309364 PMID:11431688 PMID:11479730 PMID:11553050 PMID:11826019 PMID:12015275 PMID:12388550 PMID:12552561 PMID:12634864 PMID:12721955 PMID:12731001 PMID:12782766 PMID:12868034 PMID:14561779 PMID:14744876 PMID:15020706 PMID:15086958 PMID:15150775 PMID:15579687 PMID:15846561 PMID:15889018 PMID:16098226 PMID:16199547 PMID:16493447 PMID:16617299 PMID:16712695 PMID:16785853 PMID:16803629 PMID:17148041 PMID:17406642 PMID:17417613 PMID:17568989 PMID:17576681 PMID:17595013 PMID:17630404 PMID:17893655 PMID:18241071 PMID:18332330 PMID:18414213 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:22393275 PMID:22509105 PMID:22692063 PMID:22893676 PMID:23404109 PMID:23517654 PMID:23734086 PMID:23761016 PMID:23942204 PMID:24138039 PMID:24266705 PMID:24281366 PMID:24390526 PMID:24623969 PMID:24737507 PMID:25678763 PMID:25741868 PMID:26535646 PMID:26604670 PMID:26661695 PMID:26694549 PMID:26849621 PMID:27013732 PMID:27081502 PMID:27081561 PMID:27124303 PMID:27307692 PMID:27381094 PMID:27431685 PMID:27455012 PMID:27463523 PMID:27878435 PMID:28018434 PMID:28231309 PMID:28321846 PMID:28488383 PMID:28492532 PMID:28559085 PMID:29145603 PMID:29217025 PMID:29618921 PMID:29780932 PMID:29914532 PMID:30167917 PMID:30291432 PMID:30315214 PMID:30986449 PMID:31161946 PMID:31700164 PMID:32080308 PMID:32214788 PMID:32360764 PMID:32467297 PMID:32857266 PMID:32860008 PMID:32883240 PMID:33169869 PMID:34101622 PMID:34174135 PMID:34415986 PMID:34942114 More...
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Rcn1 |
reticulocalbin 1 |
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ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:91,841,052...91,855,295
Ensembl chr 3:91,841,052...91,855,295
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G |
Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8810912 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:9607189 PMID:9745866 PMID:10470095 PMID:10505700 PMID:10571943 PMID:10762296 PMID:11182928 PMID:11241055 PMID:11278460 PMID:11322369 PMID:11738793 PMID:12471221 PMID:12970737 PMID:15150775 PMID:15483024 PMID:15509792 PMID:16439601 PMID:16932893 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17630404 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18618575 PMID:19205749 PMID:19221039 PMID:19442771 PMID:20106868 PMID:20442690 PMID:20595692 PMID:21125408 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22172722 PMID:23117548 PMID:23295293 PMID:23456818 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24138039 PMID:24728327 PMID:24856380 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25501161 PMID:25623218 PMID:25720465 PMID:25741868 PMID:25818337 PMID:26069768 PMID:26248470 PMID:26467025 PMID:26661695 PMID:26882358 PMID:27013732 PMID:27124303 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28334862 PMID:28492532 PMID:28780565 PMID:29474669 PMID:30406062 PMID:30721404 PMID:30963316 PMID:31937884 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:33226606 PMID:34386660 PMID:34490048 PMID:35904974 More...
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Maf |
MAF bZIP transcription factor |
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ISO |
ClinVar Annotator: match by term: Ayme-Gripp syndrome | ClinVar Annotator: match by term: Ayme-gripp syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 PMID:25741868 PMID:25865493 PMID:28492532 PMID:30659945 PMID:34217267 PMID:38177409 More...
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NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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G |
Copb1 |
COPI coat complex subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Baralle-Macken syndrome |
OMIM ClinVar |
PMID:25741868 PMID:33632302 |
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NCBI chr 1:168,404,334...168,438,589
Ensembl chr 1:168,404,335...168,438,416
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G |
Acp6 |
acid phosphatase 6, lysophosphatidic |
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ISO |
ClinVar Annotator: match by term: Cataract 1 multiple types |
ClinVar |
PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532 |
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NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
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G |
Bcl9 |
BCL9, transcription coactivator |
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ISO |
ClinVar Annotator: match by term: Cataract 1 multiple types |
ClinVar |
PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532 |
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NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435
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G |
Chd1l |
chromodomain helicase DNA binding protein 1-like |
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ISO |
ClinVar Annotator: match by term: Cataract 1 multiple types |
ClinVar |
PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532 |
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NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
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G |
Gja3 |
gap junction protein, alpha 3 |
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ISO |
ClinVar Annotator: match by term: Zonular Pulverulent Cataract |
ClinVar |
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NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810
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Gja5 |
gap junction protein, alpha 5 |
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ISO |
ClinVar Annotator: match by term: Cataract 1 multiple types |
ClinVar |
PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532 |
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NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
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G |
Gja8 |
gap junction protein, alpha 8 |
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ISO ISS IAGP |
ClinVar Annotator: match by term: CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 1 multiple types | ClinVar Annotator: match by term: Zonular Pulverulent Cataract OMIM:116200 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.L7Q(rat) |
OMIM ClinVar MouseDO CTD RGD |
PMID:1975179 PMID:9497259 PMID:10362609 PMID:10480374 PMID:11846744 PMID:12800976 PMID:14059288 PMID:14627691 PMID:16234473 PMID:16254549 PMID:16397066 PMID:16604058 PMID:16611690 PMID:17110920 PMID:17601931 PMID:17724170 PMID:18003700 PMID:18006672 PMID:18334946 PMID:18334966 PMID:18483562 PMID:18587493 PMID:19073179 PMID:19126675 PMID:19182255 PMID:19331825 PMID:19684000 PMID:20019893 PMID:20597646 PMID:20806042 PMID:21174522 PMID:21228318 PMID:21686328 PMID:21921990 PMID:23508780 PMID:23555834 PMID:23592913 PMID:23720739 PMID:23734083 PMID:23772370 PMID:23832966 PMID:24281366 PMID:24535056 PMID:24968223 PMID:25003127 PMID:25148791 PMID:25260631 PMID:25301372 PMID:25403472 PMID:25517998 PMID:25549162 PMID:25741868 PMID:25947639 PMID:25970271 PMID:26004348 PMID:26694549 PMID:26996484 PMID:27216975 PMID:27785597 PMID:27878435 PMID:27990357 PMID:28392901 PMID:28455998 PMID:28492532 PMID:28526010 PMID:28530003 PMID:28544770 PMID:28827829 PMID:28839118 PMID:29434075 PMID:29461140 PMID:29461512 PMID:29464339 PMID:29770612 PMID:30076350 PMID:30078984 PMID:30262699 PMID:30373400 PMID:30450742 PMID:30498267 PMID:30890130 PMID:30928190 PMID:31618082 PMID:31842807 PMID:31844091 PMID:32384692 PMID:32499604 PMID:32830442 PMID:32883240 PMID:33218330 PMID:33240976 PMID:33494148 PMID:33816482 PMID:33923544 PMID:34014271 PMID:34059112 PMID:34101287 PMID:34169787 PMID:34722561 PMID:35011756 PMID:35428228 PMID:35531093 PMID:35726576 PMID:35980487 PMID:36161833 PMID:36262071 PMID:18470322 More...
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RGD:2293186 |
NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
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Gja8m1Cub |
gap junction protein, alpha 8; mutant 1 Cub |
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IAGP |
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RGD |
PMID:18470322 |
RGD:2293186 |
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G |
Cryba1 |
crystallin, beta A1 |
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ISO ISS |
ClinVar Annotator: match by term: Cataract 10 multiple types OMIM:600881 CTD Direct Evidence: marker/mechanism DNA:mutation:exon:170T>A(mouse) |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:9788845 PMID:11006214 PMID:14598164 PMID:14693780 PMID:17576681 PMID:20142846 PMID:21139983 PMID:21850182 PMID:21866213 PMID:22919269 PMID:24281366 PMID:25741868 PMID:26851658 PMID:28492532 PMID:10585769 More...
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RGD:734831 |
NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726
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Gbf1 |
golgi brefeldin A resistant guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Cataract 11 multiple types | ClinVar Annotator: match by term: Cataract 11, posterior polar | ClinVar Annotator: match by term: Cataract, posterior polar, 4 | ClinVar Annotator: match by term: PITX3-related condition |
ClinVar |
PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:16565358 PMID:17888164 PMID:18989383 PMID:24555714 PMID:25741868 PMID:28492532 PMID:29405783 PMID:30816539 More...
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NCBI chr 1:245,018,535...245,147,052
Ensembl chr 1:245,018,568...245,147,042
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Pitx3 |
paired-like homeodomain 3 |
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ISO |
ClinVar Annotator: match by term: Cataract 11 multiple types | ClinVar Annotator: match by term: Cataract 11, posterior polar | ClinVar Annotator: match by term: Cataract, posterior polar, 4 | ClinVar Annotator: match by term: PITX3-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:16565358 PMID:17888164 PMID:18989383 PMID:24555714 PMID:25741868 PMID:28492532 PMID:29405783 PMID:30816539 More...
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NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892
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G |
Bfsp2 |
beaded filament structural protein 2 |
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ISO |
ClinVar Annotator: match by term: BFSP2-related condition | ClinVar Annotator: match by term: Cataract 12 multiple types CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10729115 PMID:12573667 PMID:14638724 PMID:21836522 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399
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G |
C17h6orf52 |
similar to human chromosome 6 open reading frame 52 |
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ISO |
ClinVar Annotator: match by term: Cataract 13 with adult I phenotype |
ClinVar |
PMID:28492532 |
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NCBI chr17:23,753,359...23,776,251
Ensembl chr17:23,762,746...23,776,245
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Gcm2 |
glial cells missing transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Cataract 13 with adult I phenotype |
ClinVar |
PMID:28492532 |
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NCBI chr17:23,652,637...23,661,754
Ensembl chr17:23,652,637...23,661,754
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G |
Gcnt2 |
glucosaminyl (N-acetyl) transferase 2 |
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ISO |
ClinVar Annotator: match by term: ADULT i BLOOD GROUP PHENOTYPE | ClinVar Annotator: match by term: Adult i blood group with or without congenital cataract | ClinVar Annotator: match by term: Blood group, I system | ClinVar Annotator: match by term: Cataract 13 with adult I phenotype |
OMIM ClinVar |
PMID:9536098 PMID:11739194 PMID:12424189 PMID:12468428 PMID:15161861 PMID:17576681 PMID:21761136 PMID:22935719 PMID:25457163 PMID:25741868 PMID:28492532 PMID:29770612 PMID:29914532 More...
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NCBI chr17:23,796,859...23,901,625
Ensembl chr17:23,796,859...23,901,611
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Mak |
male germ cell-associated kinase |
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ISO |
ClinVar Annotator: match by term: Cataract 13 with adult I phenotype |
ClinVar |
PMID:28492532 |
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NCBI chr17:23,683,753...23,731,125
Ensembl chr17:23,693,878...23,730,001
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G |
Pak1ip1 |
PAK1 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Cataract 13 with adult I phenotype |
ClinVar |
PMID:28492532 |
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NCBI chr17:23,742,217...23,753,325
Ensembl chr17:23,741,414...23,753,324
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G |
Tfap2a |
transcription factor AP-2 alpha |
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ISO |
ClinVar Annotator: match by term: Cataract 13 with adult I phenotype |
ClinVar |
PMID:28492532 |
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NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
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G |
Tmem14c |
transmembrane protein 14C |
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ISO |
ClinVar Annotator: match by term: Cataract 13 with adult I phenotype |
ClinVar |
PMID:28492532 |
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NCBI chr17:23,733,769...23,739,906
Ensembl chr17:23,733,894...23,753,320
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G |
Cryl1 |
crystallin, lambda 1 |
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ISO |
ClinVar Annotator: match by term: Cataract 14 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997
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G |
Eef1akmt1 |
EEF1A lysine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Cataract 14 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,694,284...31,711,367
Ensembl chr15:31,694,292...31,711,336
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G |
Gja3 |
gap junction protein, alpha 3 |
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ISO ISS |
ClinVar Annotator: match by term: Cataract 14 multiple types | ClinVar Annotator: match by term: Zonular pulverulent cataract 3 OMIM:601885 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:10205266 PMID:10746562 PMID:14627959 PMID:15208569 PMID:15286166 PMID:15448617 PMID:16204255 PMID:16234473 PMID:16254549 PMID:16885921 PMID:16971895 PMID:17615540 PMID:17893674 PMID:19182255 PMID:20431721 PMID:21031021 PMID:21552498 PMID:21647269 PMID:21681855 PMID:21866213 PMID:21897748 PMID:22312188 PMID:22550389 PMID:22843197 PMID:22876138 PMID:23302783 PMID:23592915 PMID:23734083 PMID:24319337 PMID:24728566 PMID:24772942 PMID:25148791 PMID:25549162 PMID:25635993 PMID:25741868 PMID:26683566 PMID:26694549 PMID:27275416 PMID:27609163 PMID:28492532 PMID:28546921 PMID:28839118 PMID:28877251 PMID:29321356 PMID:29461140 PMID:29461512 PMID:29934635 PMID:30076350 PMID:30078984 PMID:31618082 PMID:31842807 PMID:32384692 PMID:32808810 PMID:33923544 PMID:34014271 PMID:34169787 PMID:35008666 PMID:35052368 PMID:36161833 More...
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NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810
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G |
Gjb2 |
gap junction protein, beta 2 |
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ISO |
ClinVar Annotator: match by term: Cataract 14 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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G |
Gjb6 |
gap junction protein, beta 6 |
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ISO |
ClinVar Annotator: match by term: Cataract 14 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582
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G |
Ift88 |
intraflagellar transport 88 |
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ISO |
ClinVar Annotator: match by term: Cataract 14 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
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G |
Il17d |
interleukin 17D |
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ISO |
ClinVar Annotator: match by term: Cataract 14 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,671,337...31,688,833
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G |
Xpo4 |
exportin 4 |
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ISO |
ClinVar Annotator: match by term: Cataract 14 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,717,016...31,807,723
Ensembl chr15:31,716,762...31,807,908
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G |
Agap2 |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 |
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ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,897,282...62,914,295
Ensembl chr 7:62,897,282...62,914,295
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G |
Apof |
apolipoprotein F |
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ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr 7:700,688...702,130
Ensembl chr 7:700,762...701,946
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G |
Arhgap9 |
Rho GTPase activating protein 9 |
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ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524
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G |
Arhgef25 |
Rho guanine nucleotide exchange factor 25 |
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ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,005,938...63,013,325
Ensembl chr 7:63,005,940...63,013,719
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G |
Atp5f1b |
ATP synthase F1 subunit beta |
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ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
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G |
B4galnt1 |
beta-1,4-N-acetyl-galactosaminyl transferase 1 |
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ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,988,429...62,996,190
Ensembl chr 7:62,988,930...62,996,190
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G |
Baz2a |
bromodomain adjacent to zinc finger domain, 2A |
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ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr 7:523,204...560,911
Ensembl chr 7:523,265...560,659
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G |
Cdk4 |
cyclin-dependent kinase 4 |
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ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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G |
Cyp27b1 |
cytochrome P450, family 27, subfamily b, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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G |
Dctn2 |
dynactin subunit 2 |
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ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,092,061...63,107,560
Ensembl chr 7:63,092,057...63,108,543
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G |
Ddit3 |
DNA-damage inducible transcript 3 |
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ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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G |
Dtx3 |
deltex E3 ubiquitin ligase 3 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,013,769...63,018,431
Ensembl chr 7:63,013,371...63,018,522
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|
G |
Eef1akmt3 |
EEF1A lysine methyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:62,853,304...62,864,558
Ensembl chr 7:62,854,899...62,864,617
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|
G |
Gli1 |
GLI family zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
|
|
G |
Gls2 |
glutaminase 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426
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|
G |
Gpr182 |
G protein-coupled receptor 182 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,585,997...63,589,088
Ensembl chr 7:63,578,750...63,589,210
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|
G |
Hsd17b6 |
hydroxysteroid (17-beta) dehydrogenase 6 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:422,466...442,008
Ensembl chr 7:422,480...442,425
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|
G |
Il23a |
interleukin 23 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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|
G |
Inhbc |
inhibin subunit beta C |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,184,141...63,197,630
Ensembl chr 7:63,184,142...63,197,630
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|
G |
Inhbe |
inhibin subunit beta E |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,176,221...63,179,209
Ensembl chr 7:63,176,219...63,179,172
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|
G |
Kif5a |
kinesin family member 5A |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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|
G |
Lrp1 |
LDL receptor related protein 1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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|
G |
Marchf9 |
membrane associated ring-CH-type finger 9 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:62,879,017...62,882,495
Ensembl chr 7:62,879,018...62,882,495
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|
G |
Mars1 |
methionyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
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|
G |
Mbd6 |
methyl-CpG binding domain protein 6 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,107,562...63,115,841
Ensembl chr 7:63,107,562...63,113,274
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|
G |
Mettl1 |
methyltransferase 1, tRNA methylguanosine |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:62,864,860...62,869,202
Ensembl chr 7:62,864,853...62,869,202
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|
G |
Mip |
major intrinsic protein of lens fiber |
|
ISO ISS |
ClinVar Annotator: match by term: Cataract 15 multiple types | ClinVar Annotator: match by term: MIP-related condition OMIM:615274 |
OMIM ClinVar MouseDO |
PMID:3456204 PMID:9536098 PMID:10802646 PMID:10937580 PMID:16199547 PMID:16564824 PMID:17576681 PMID:18501347 PMID:20361015 PMID:21921980 PMID:24120416 PMID:24319327 PMID:24405844 PMID:25741868 PMID:25803033 PMID:26694549 PMID:27456987 PMID:28492532 PMID:29695758 PMID:29770612 PMID:30585525 More...
|
|
NCBI chr 7:643,502...653,121
Ensembl chr 7:647,315...654,400
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|
G |
Myo1a |
myosin IA |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,542,988...63,557,944
Ensembl chr 7:63,542,988...63,557,944
|
|
G |
Nab2 |
Ngfi-A binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,497,589...63,504,105
Ensembl chr 7:63,497,589...63,503,989
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|
G |
Naca |
nascent polypeptide associated complex subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:468,862...481,992
Ensembl chr 7:469,723...481,992
|
|
G |
Ndufa4l2 |
NDUFA4, mitochondrial complex associated like 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,351,021...63,359,010
Ensembl chr 7:63,356,883...63,359,010
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|
G |
Nemp1 |
nuclear envelope integral membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,514,025...63,538,791
Ensembl chr 7:63,479,951...63,534,602
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|
G |
Nxph4 |
neurexophilin 4 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,367,758...63,376,579
Ensembl chr 7:63,367,761...63,376,579
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|
G |
Os9 |
OS9, endoplasmic reticulum lectin |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:62,915,498...62,957,591
Ensembl chr 7:62,915,515...62,943,745
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|
G |
Pan2 |
poly(A) specific ribonuclease subunit PAN2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:729,146...747,744
Ensembl chr 7:729,562...747,744
|
|
G |
Pip4k2c |
phosphatidylinositol-5-phosphate 4-kinase type 2 gamma |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,020,004...63,035,086
Ensembl chr 7:63,020,000...63,035,078
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|
G |
Prim1 |
DNA primase subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:446,342...462,526
Ensembl chr 7:431,805...462,526
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|
G |
Ptges3 |
prostaglandin E synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:490,698...507,759
Ensembl chr 7:490,656...508,084
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|
G |
R3hdm2 |
R3H domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,212,519...63,340,574
Ensembl chr 7:63,232,346...63,340,540
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|
G |
Rbms2 |
RNA binding motif, single stranded interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:560,787...603,881
Ensembl chr 7:560,648...600,232
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|
G |
Rdh16 |
retinol dehydrogenase 16 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,616,711...63,625,053
Ensembl chr 7:63,597,536...63,624,124
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|
G |
Sdr9c7 |
short chain dehydrogenase/reductase family 9C, member 7 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
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|
G |
Shmt2 |
serine hydroxymethyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236
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|
G |
Spryd4 |
SPRY domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:633,400...637,564
Ensembl chr 7:633,394...637,557
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|
G |
Stac3 |
SH3 and cysteine rich domain 3 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589
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|
G |
Stat2 |
signal transducer and activator of transcription 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
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|
G |
Stat6 |
signal transducer and activator of transcription 6 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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|
G |
Tac3 |
tachykinin precursor 3 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,562,552...63,569,170
Ensembl chr 7:63,562,552...63,569,170
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G |
Timeless |
timeless circadian regulator |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:654,804...678,769
Ensembl chr 7:654,822...678,738
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|
G |
Tsfm |
Ts translation elongation factor, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
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|
G |
Tspan31 |
tetraspanin 31 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388
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|
G |
Zbtb39 |
zinc finger and BTB domain containing 39 |
|
ISO |
ClinVar Annotator: match by term: Cataract 15 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,576,998...63,584,549
Ensembl chr 7:63,576,917...63,589,210
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|
|
G |
Col12a1 |
collagen type XII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Cataract 16 multiple types |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
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G |
Cryab |
crystallin, alpha B |
|
ISO ISS |
ClinVar Annotator: match by term: CATARACT, CONGENITAL LAMELLAR | ClinVar Annotator: match by term: Cataract 16 multiple types OMIM:613763 |
OMIM ClinVar MouseDO |
PMID:1560021 PMID:2299599 PMID:11013455 PMID:11577372 PMID:16483541 PMID:16505043 PMID:16793013 PMID:16877416 PMID:17116488 PMID:19282282 PMID:19461931 PMID:20141356 PMID:20171888 PMID:20301672 PMID:21130652 PMID:21920752 PMID:22106715 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25208129 PMID:25741868 PMID:26265630 PMID:26467025 PMID:26622071 PMID:26694549 PMID:26961874 PMID:27226619 PMID:27896284 PMID:28492532 PMID:28518168 PMID:28640093 PMID:28690483 PMID:28798025 PMID:28919577 PMID:32420686 PMID:32528171 PMID:32533979 PMID:34237397 PMID:34983005 PMID:35531184 More...
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NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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G |
Cryba4 |
crystallin, beta A4 |
|
ISO |
ClinVar Annotator: match by term: Cataract 17 multiple types |
ClinVar |
PMID:9536098 PMID:12360425 PMID:16110300 PMID:17460281 PMID:17576681 PMID:20565250 PMID:21402992 PMID:21972112 PMID:25086334 PMID:25741868 PMID:28492532 PMID:32854469 PMID:33223529 More...
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|
NCBI chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221
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G |
Crybb1 |
crystallin, beta B1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 17 multiple types CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:12360425 PMID:16110300 PMID:17460281 PMID:17576681 PMID:20565250 PMID:21402992 PMID:21972112 PMID:25086334 PMID:25741868 PMID:28492532 PMID:32854469 PMID:33223529 More...
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|
NCBI chr12:44,369,734...44,383,344
Ensembl chr12:44,369,735...44,383,344
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|
G |
Fyco1 |
FYVE and coiled-coil domain autophagy adaptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CATARACT 18, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cataract 18 | ClinVar Annotator: match by term: FYCO1-related condition |
OMIM CTD ClinVar |
PMID:9536098 PMID:11519376 PMID:17576681 PMID:21636066 PMID:25741868 PMID:27878435 PMID:28418495 PMID:28492532 PMID:33767456 More...
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|
NCBI chr 8:123,412,105...123,479,315
Ensembl chr 8:123,412,112...123,479,021
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G |
Lim2 |
lens intrinsic membrane protein 2 |
|
ISO ISS |
ClinVar Annotator: match by term: Cataract 19 multiple types OMIM:615277 |
OMIM ClinVar MouseDO |
PMID:11917274 PMID:18596884 PMID:21386927 PMID:25741868 PMID:28492532 PMID:32202185 PMID:33078099 PMID:33708862 PMID:33923544 PMID:35736209 More...
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|
NCBI chr 1:93,837,597...93,843,769
Ensembl chr 1:93,837,597...93,843,769
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G |
Crygc |
crystallin, gamma C |
|
ISO ISS |
ClinVar Annotator: match by term: CRYGC-related condition | ClinVar Annotator: match by term: Cataract 2, multiple types | ClinVar Annotator: match by term: Cataract, Coppock-like | ClinVar Annotator: match by term: Nuclear pulverulent cataract OMIM:604307 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:8004095 PMID:8190472 PMID:10521291 PMID:10914683 PMID:12011157 PMID:12601044 PMID:17679936 PMID:18587492 PMID:19204787 PMID:22052681 PMID:22876111 PMID:24033266 PMID:24281366 PMID:25148791 PMID:25741868 PMID:26694549 PMID:27307692 PMID:27535533 PMID:27628848 PMID:28298635 PMID:28492532 PMID:30450742 PMID:33243271 PMID:36246175 More...
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|
NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626
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G |
Crygd |
crystallin, gamma D |
|
ISS |
OMIM:604307 |
MouseDO |
|
|
NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067
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G |
Crygs |
crystallin, gamma S |
|
ISO ISS |
ClinVar Annotator: match by term: Cataract 20 multiple types OMIM:116100 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:16141006 PMID:17576681 PMID:18587492 PMID:19262743 PMID:25741868 PMID:28166811 PMID:28450710 PMID:28492532 PMID:29964096 More...
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|
NCBI chr11:78,207,170...78,212,273
Ensembl chr11:78,207,170...78,212,273
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|
G |
Dynlrb2 |
dynein light chain roadblock-type 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 21 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr19:44,520,134...44,531,384
Ensembl chr19:44,520,134...44,531,387
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G |
Maf |
MAF bZIP transcription factor |
|
ISO ISS |
ClinVar Annotator: match by term: CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 21 multiple types | ClinVar Annotator: match by term: Cataract, congenital, cerulean type, 4 OMIM:610202 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:11772997 PMID:12620964 PMID:16470690 PMID:17982426 PMID:22345400 PMID:24664492 PMID:25064449 PMID:25741868 PMID:25865493 PMID:26694549 PMID:28492532 PMID:29758562 PMID:30659945 PMID:34101287 PMID:34217267 PMID:38177409 More...
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|
NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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G |
Wwox |
WW domain-containing oxidoreductase |
|
ISO |
ClinVar Annotator: match by term: Cataract 21 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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G |
Crybb3 |
crystallin, beta B3 |
|
ISO |
ClinVar Annotator: match by term: Cataract 22 multiple types | ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15914629 PMID:19182255 PMID:23508780 PMID:24940039 PMID:25640679 PMID:25741868 PMID:26694549 PMID:27307692 PMID:28492532 PMID:32830442 PMID:33510601 PMID:33923544 PMID:34014271 PMID:34356085 More...
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|
NCBI chr12:43,557,103...43,562,120
Ensembl chr12:43,557,103...43,562,120
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G |
Asphd2 |
aspartate beta-hydroxylase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 23 |
ClinVar |
PMID:28492532 |
|
NCBI chr12:44,248,132...44,258,653
Ensembl chr12:44,248,145...44,257,772
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G |
Cryba4 |
crystallin, beta A4 |
|
ISO |
ClinVar Annotator: match by term: Cataract 23 | ClinVar Annotator: match by term: Cataract 23, multiple types |
OMIM ClinVar |
PMID:15452067 PMID:16199547 PMID:16960806 PMID:20577656 PMID:24968223 PMID:25741868 PMID:26694549 PMID:28166811 PMID:28450710 PMID:28492532 PMID:31555371 More...
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NCBI chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221
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G |
Crybb1 |
crystallin, beta B1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 23 |
ClinVar |
PMID:28492532 |
|
NCBI chr12:44,369,734...44,383,344
Ensembl chr12:44,369,735...44,383,344
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G |
Hps4 |
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 23 |
ClinVar |
PMID:28492532 |
|
NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
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G |
Myo18b |
myosin XVIIIb |
|
ISO |
ClinVar Annotator: match by term: Cataract 23 |
ClinVar |
PMID:28492532 |
|
NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695
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G |
Sez6l |
seizure related 6 homolog like |
|
ISO |
ClinVar Annotator: match by term: Cataract 23 |
ClinVar |
PMID:28492532 |
|
NCBI chr12:44,064,901...44,221,814
Ensembl chr12:44,064,935...44,219,663
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G |
Srrd |
SRR1 domain containing |
|
ISO |
ClinVar Annotator: match by term: Cataract 23 |
ClinVar |
PMID:28492532 |
|
NCBI chr12:44,294,675...44,300,287
Ensembl chr12:44,294,271...44,300,287
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G |
Tfip11 |
tuftelin interacting protein 11 |
|
ISO |
ClinVar Annotator: match by term: Cataract 23 |
ClinVar |
PMID:28492532 |
|
NCBI chr12:44,299,619...44,311,851
Ensembl chr12:44,299,622...44,311,855
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G |
Tpst2 |
tyrosylprotein sulfotransferase 2 |
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ISO |
ClinVar Annotator: match by term: Cataract 23 |
ClinVar |
PMID:28492532 |
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NCBI chr12:44,321,875...44,363,892
Ensembl chr12:44,321,875...44,362,329
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G |
Gja8 |
gap junction protein, alpha 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14627691 |
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NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
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G |
Pax6 |
paired box 6 |
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ISO |
associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human) |
RGD |
PMID:22393272 |
RGD:8552277 |
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Crybb2 |
crystallin, beta B2 |
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ISO ISS |
ClinVar Annotator: match by term: CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 3 multiple types OMIM:601547 |
OMIM ClinVar MouseDO |
PMID:2240043 PMID:8812489 PMID:9158139 PMID:9536098 PMID:10634616 PMID:11424921 PMID:15889016 PMID:16199547 PMID:16319073 PMID:17234267 PMID:17576681 PMID:17653036 PMID:19649175 PMID:22312185 PMID:24120835 PMID:24704203 PMID:25741868 PMID:26694549 PMID:27385965 PMID:28131617 PMID:28492532 PMID:29386872 PMID:29395391 PMID:30450742 PMID:32498547 PMID:33594837 PMID:37076855 More...
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NCBI chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671
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G |
Rag1 |
recombination activating 1 |
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ISO |
ClinVar Annotator: match by term: Cataract 3 multiple types |
ClinVar |
PMID:25741868 |
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NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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G |
Crygc |
crystallin, gamma C |
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ISO |
ClinVar Annotator: match by term: Cataract, Coppock-like |
ClinVar |
PMID:24281366 PMID:26694549 |
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NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626
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G |
Vim |
vimentin |
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ISO ISS |
OMIM:116300 ClinVar Annotator: match by term: CATARACT 30, PULVERULENT | ClinVar Annotator: match by term: Cataract 30 CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:19126778 PMID:25741868 PMID:26694549 PMID:28450710 PMID:28492532 |
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NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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G |
Chmp4b |
charged multivesicular body protein 4B |
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ISO |
ClinVar Annotator: match by term: Cataract 31 multiple types CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10682967 PMID:17701905 PMID:25741868 PMID:28492532 |
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NCBI chr 3:143,170,859...143,211,376
Ensembl chr 3:143,170,902...143,210,844
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G |
Bfsp1 |
beaded filament structural protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cataract 33 |
OMIM CTD ClinVar |
PMID:12454043 PMID:14638724 PMID:17225135 PMID:24281366 PMID:24379646 PMID:25741868 PMID:26694549 PMID:28450710 PMID:28492532 More...
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NCBI chr 3:131,195,087...131,252,668
Ensembl chr 3:131,195,087...131,229,337
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G |
Esr1 |
estrogen receptor 1 |
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ISO |
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RGD |
PMID:12082175 |
RGD:734947 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Pcsk2 |
proprotein convertase subtilisin/kexin type 2 |
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ISO |
ClinVar Annotator: match by term: Cataract 33 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:130,880,422...131,183,127
Ensembl chr 3:130,880,422...131,183,127
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G |
Foxe3 |
forkhead box E3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CATARACT 34, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 34 multiple types |
CTD OMIM ClinVar |
PMID:17893665 PMID:19708017 PMID:20140963 PMID:24033266 PMID:25741868 PMID:27218149 PMID:28492532 PMID:29136273 PMID:29314435 PMID:29878917 PMID:34046667 More...
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NCBI chr 5:128,444,912...128,446,494
Ensembl chr 5:128,445,594...128,446,454
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G |
Tdrd7 |
tudor domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Cataract 36 | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 4 |
OMIM ClinVar |
PMID:25741868 PMID:28418495 PMID:28492532 |
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NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544
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G |
Agk |
acylglycerol kinase |
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ISO |
ClinVar Annotator: match by term: AGK-related disorder | ClinVar Annotator: match by term: Cataract 38 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22277967 PMID:22415731 PMID:24088041 PMID:25208612 PMID:25741868 PMID:26582918 PMID:26633545 PMID:28492532 PMID:30634555 PMID:34440436 PMID:34948281 More...
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NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934
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G |
Crygb |
crystallin, gamma B |
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ISO ISS |
OMIM:615188 ClinVar Annotator: match by term: Cataract 39 multiple types |
OMIM MouseDO ClinVar |
PMID:23288985 PMID:25741868 PMID:28492532 |
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NCBI chr 9:66,461,460...66,463,520
Ensembl chr 9:66,461,460...66,463,520
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G |
Crygd |
crystallin, gamma D |
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ISO ISS |
ClinVar Annotator: match by term: Cataract 4 | ClinVar Annotator: match by term: Cataract 4 multiple types OMIM:115700 |
OMIM ClinVar MouseDO |
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:24465161 PMID:25403472 PMID:25741868 PMID:26694549 PMID:28450710 PMID:28474685 PMID:28492532 PMID:29914532 PMID:32830442 PMID:33243271 More...
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NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067
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G |
Nhs |
NHS actin remodeling regulator |
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ISO |
ClinVar Annotator: match by term: Cataract 40 | ClinVar Annotator: match by term: Cataract 40, X-linked CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:14564667 PMID:16736028 PMID:18949062 PMID:19414485 PMID:23757202 PMID:24968223 PMID:25741868 PMID:28492532 More...
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NCBI chr X:32,553,300...32,892,961
Ensembl chr X:32,552,026...32,889,992
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G |
Wfs1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: CATARACT 41, CONGENITAL NUCLEAR TYPE | ClinVar Annotator: match by term: Cataract 41 |
OMIM ClinVar |
PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11260218 PMID:11295831 PMID:11709537 PMID:11709538 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12707373 PMID:12754709 PMID:12955714 PMID:15151504 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15912360 PMID:16151413 PMID:16806192 PMID:17492394 PMID:17568405 PMID:17576681 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:19042979 PMID:19292454 PMID:20028947 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21356526 PMID:21446023 PMID:21538838 PMID:21564155 PMID:21602428 PMID:23373429 PMID:23429432 PMID:23981289 PMID:24033266 PMID:24088041 PMID:24890733 PMID:24909696 PMID:25133958 PMID:25211237 PMID:25262649 PMID:25326637 PMID:25388789 PMID:25497598 PMID:25542043 PMID:25714468 PMID:25741868 PMID:25895475 PMID:26025012 PMID:26284228 PMID:26435059 PMID:26467025 PMID:26633545 PMID:26969326 PMID:27068579 PMID:27167055 PMID:27395765 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28271504 PMID:28432734 PMID:28492532 PMID:28559085 PMID:28802351 PMID:29529044 PMID:29563951 PMID:29632382 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30663027 PMID:30773290 PMID:31264968 PMID:31313226 PMID:31363008 PMID:31521625 PMID:31567480 PMID:31600780 PMID:31638168 PMID:31980526 PMID:32179840 PMID:32350710 PMID:32700054 PMID:32883240 PMID:33046911 PMID:33297549 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34356170 PMID:34404380 PMID:34445196 PMID:34556497 PMID:34573359 PMID:34746052 PMID:34837038 PMID:35206658 PMID:35469785 PMID:35602877 PMID:36208030 PMID:36597107 PMID:36729443 PMID:37508961 PMID:37510321 More...
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NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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G |
Cryba2 |
crystallin, beta A2 |
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ISO |
ClinVar Annotator: match by term: CRYBA2-related condition |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
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G |
Unc45b |
unc-45 myosin chaperone B |
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ISO |
ClinVar Annotator: match by term: Cataract 43 |
OMIM ClinVar |
PMID:24549050 PMID:25741868 |
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NCBI chr10:67,845,464...67,873,143
Ensembl chr10:67,845,462...67,873,389
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G |
Lss |
lanosterol synthase |
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ISO |
ClinVar Annotator: match by term: Cataract 44 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
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G |
Sipa1l3 |
signal-induced proliferation-associated 1 like 3 |
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ISO |
ClinVar Annotator: match by term: Cataract 45 |
OMIM ClinVar |
PMID:25741868 PMID:25804400 PMID:28492532 |
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NCBI chr 1:84,618,714...84,825,956
Ensembl chr 1:84,618,719...84,703,802
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G |
Lemd2 |
LEM domain nuclear envelope protein 2 |
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ISO |
ClinVar Annotator: match by term: Cataract 46 juvenile-onset |
OMIM ClinVar |
PMID:4061486 PMID:23806086 PMID:23863954 PMID:24088041 PMID:25741868 PMID:26788539 PMID:31061923 More...
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NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626
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G |
Slc16a12 |
solute carrier family 16, member 12 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CATARACT, JUVENILE, WITH MICROCORNEA | ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria |
OMIM CTD ClinVar |
PMID:17458810 PMID:18304496 PMID:21778275 PMID:24281366 PMID:25741868 PMID:26376857 PMID:26694549 PMID:28492532 More...
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NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141
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G |
Dnmbp |
dynamin binding protein |
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ISO |
ClinVar Annotator: match by term: Cataract 48 |
OMIM ClinVar |
PMID:25741868 PMID:30290152 |
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NCBI chr 1:242,736,189...242,829,431
Ensembl chr 1:242,736,189...242,802,604
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G |
Pank4 |
pantothenate kinase 4 |
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ISO |
ClinVar Annotator: match by term: Cataract 49 |
OMIM ClinVar |
PMID:25741868 PMID:30585370 |
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NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
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G |
B3gnt9 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:33,129,740...33,134,048
Ensembl chr19:33,128,142...33,132,344
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G |
Bean1 |
brain expressed, associated with NEDD4, 1 |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:739,551...786,395
Ensembl chr19:739,551...787,537
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G |
Car7 |
carbonic anhydrase 7 |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:429,063...438,478
Ensembl chr19:429,075...438,467
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G |
Cbfb |
core-binding factor subunit beta |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751
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G |
Cdh16 |
cadherin 16 |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:360,824...371,008
Ensembl chr19:360,824...371,007
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G |
Cdh5 |
cadherin 5 |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
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G |
Ces2h |
carboxylesterase 2H |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:32,974,242...32,988,842
Ensembl chr19:32,974,242...32,988,830
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G |
Ces3a |
carboxylesterase 3a |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:32,992,386...33,000,562
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G |
Ces4a |
carboxylesterase 4A |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:33,011,731...33,030,119
Ensembl chr19:33,011,731...33,029,545
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G |
Ciao2b |
cytosolic iron-sulfur assembly component 2B |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:344,194...346,068
Ensembl chr19:344,203...346,068
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G |
Cklf |
chemokine-like factor |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:698,097...706,570
Ensembl chr19:698,033...706,570
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G |
Cmtm1 |
CKLF-like MARVEL transmembrane domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:651,641...661,184
Ensembl chr19:651,644...661,184
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G |
Cmtm2b |
CKLF-like MARVEL transmembrane domain containing 2B |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:640,838...651,872
Ensembl chr19:640,824...651,939
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G |
Cmtm3 |
CKLF-like MARVEL transmembrane domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:622,563...630,721
Ensembl chr19:604,458...629,790
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G |
Cmtm4 |
CKLF-like MARVEL transmembrane domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:576,203...616,109
Ensembl chr19:576,203...616,109
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G |
Dync1li2 |
dynein, cytoplasmic 1 light intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:531,783...554,670
Ensembl chr19:531,812...554,670
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G |
Fbxl8 |
F-box and leucine-rich repeat protein 8 |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:25741868 PMID:28492532 |
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NCBI chr19:33,142,705...33,147,266
Ensembl chr19:33,142,715...33,147,262
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G |
Hsf4 |
heat shock transcription factor 4 |
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ISO ISS |
ClinVar Annotator: match by term: CATARACT, MARNER TYPE | ClinVar Annotator: match by term: Cataract 5 multiple types | ClinVar Annotator: match by term: Lamellar cataract OMIM:116800 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:3233780 PMID:9536098 PMID:12089525 PMID:15959809 PMID:16199547 PMID:16876512 PMID:17576681 PMID:18941546 PMID:20421844 PMID:20670914 PMID:23329665 PMID:24045990 PMID:24637349 PMID:24975927 PMID:25741868 PMID:28492532 PMID:30078984 More...
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NCBI chr19:33,147,755...33,153,479
Ensembl chr19:33,147,755...33,153,479
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G |
Nae1 |
NEDD8 activating enzyme E1 subunit 1 |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:446,015...472,145
Ensembl chr19:446,000...472,371
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G |
Nol3 |
nucleolar protein 3 |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:33,154,061...33,158,250
Ensembl chr19:33,154,062...33,158,250
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G |
Pdp2 |
pyruvate dehydrogenase phosphatase catalytic subunit 2 |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:386,408...394,068
Ensembl chr19:386,406...394,074
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G |
Phaf1 |
phagophore assembly factor 1 |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:33,101,453...33,138,920
Ensembl chr19:33,101,490...33,138,914
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G |
Rrad |
RRAD, Ras related glycolysis inhibitor and calcium channel regulator |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417
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G |
Terb1 |
telomere repeat binding bouquet formation protein 1 |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:473,720...528,069
Ensembl chr19:473,218...528,084
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G |
Tk2 |
thymidine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924
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G |
Tradd |
TNFRSF1A-associated via death domain |
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ISO |
ClinVar Annotator: match by term: Cataract 5 multiple types |
ClinVar |
PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 |
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NCBI chr19:33,136,148...33,142,714
Ensembl chr19:33,136,138...33,142,638
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G |
Trpm3 |
transient receptor potential cation channel, subfamily M, member 3 |
|
ISO |
ClinVar Annotator: match by term: Cataract 50 with or without glaucoma |
OMIM ClinVar |
PMID:25090642 PMID:25741868 |
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NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717
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G |
Arhgef19 |
Rho guanine nucleotide exchange factor 19 |
|
ISO |
ClinVar Annotator: match by term: Cataract 6 multiple types |
ClinVar |
PMID:19649315 PMID:22167091 PMID:25148791 PMID:28492532 |
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NCBI chr 5:153,536,038...153,554,203
Ensembl chr 5:153,536,013...153,554,203
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G |
Epha2 |
Eph receptor A2 |
|
ISO ISS |
ClinVar Annotator: match by term: Age-related cortical cataract | ClinVar Annotator: match by term: CATARACT, AGE-RELATED CORTICAL, 2 | ClinVar Annotator: match by term: Cataract 6 multiple types | ClinVar Annotator: match by term: Cataract, posterior polar, 1 OMIM:116600 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:12167657 PMID:15965161 PMID:16051609 PMID:16199547 PMID:17576681 PMID:19005574 PMID:19306328 PMID:19649315 PMID:20360610 PMID:20361013 PMID:20625407 PMID:22167091 PMID:22645087 PMID:22829731 PMID:23447127 PMID:24014202 PMID:24705208 PMID:24968223 PMID:25148791 PMID:25741868 PMID:27315345 PMID:28492532 PMID:29039721 PMID:29267365 PMID:29770612 PMID:30450742 PMID:32165640 More...
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NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117
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G |
Crybb2 |
crystallin, beta B2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9158139 |
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NCBI chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671
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G |
Crygd |
crystallin, gamma D |
susceptibility |
ISO |
DNA:transversion:exon:p.P23T (human) |
RGD |
PMID:12676897 |
RGD:1601016 |
NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067
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G |
Abcg1 |
ATP binding cassette subfamily G member 1 |
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ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948
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G |
Adarb1 |
adenosine deaminase, RNA-specific, B1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
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G |
Agpat3 |
1-acylglycerol-3-phosphate O-acyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358
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G |
Aire |
autoimmune regulator |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
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G |
C20h21orf58 |
similar to human chromosome 21 open reading frame 58 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,175,442...12,187,017
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G |
C2cd2 |
C2 calcium-dependent domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr11:37,225,321...37,289,741
Ensembl chr11:37,227,415...37,289,739
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G |
Cbs |
cystathionine beta synthase |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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G |
Cfap410 |
cilia and flagella associated protein 410 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
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G |
Col18a1 |
collagen type XVIII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
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G |
Col6a1 |
collagen type VI alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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G |
Col6a2 |
collagen type VI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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G |
Cryaa |
crystallin, alpha A |
|
ISO ISS |
ClinVar Annotator: match by term: CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 9 multiple types | ClinVar Annotator: match by term: Cataract 9, autosomal recessive | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 1 OMIM:604219 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
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:18056999 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:23441109 PMID:23508780 PMID:25018622 PMID:25694240 PMID:25741868 PMID:26542570 PMID:26694549 PMID:26867756 PMID:27307692 PMID:28179137 PMID:28492532 PMID:28839118 PMID:29386872 More...
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NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
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G |
Cstb |
cystatin B |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
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G |
Dnmt3l |
DNA methyltransferase 3 like |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516
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G |
Ftcd |
formimidoyltransferase cyclodeaminase |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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G |
Gatd3a |
glutamine amidotransferase class 1 domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885
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G |
Hsf2bp |
heat shock transcription factor 2 binding protein |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242
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G |
Icoslg |
inducible T-cell co-stimulator ligand |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703
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G |
Itgb2 |
integrin subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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G |
Krtap10-1 |
keratin associated protein 10-1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,880,573...10,881,445 Ensembl chr20:10,880,573...10,881,445
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G |
Krtap10-10 |
keratin associated protein 10-10 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,854,951...10,864,402
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G |
Krtap10-2 |
keratin associated protein 10-2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,888,588...10,889,386
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G |
Krtap10-8 |
keratin associated protein 10-8 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,871,991...10,872,927
Ensembl chr20:10,871,991...10,872,844
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G |
Krtap10-9 |
keratin associated protein 10-9 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526 Ensembl chr20:10,939,609...10,940,526
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G |
Krtap12-1 |
keratin associated protein 12-1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,917,340...10,917,949
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G |
Krtap12-2 |
keratin associated protein 12-2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,904,422...10,904,751
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G |
Krtap12-4 |
keratin associated protein 12-4 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,910,350...10,910,682
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G |
Lrrc3 |
leucine rich repeat containing 3 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,758,919...10,763,736
Ensembl chr20:10,758,955...10,762,067
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G |
Lss |
lanosterol synthase |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
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G |
Mcm3ap |
minichromosome maintenance complex component 3 associated protein |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165
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G |
Ndufv3 |
NADH:ubiquinone oxidoreductase subunit V3 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074 Ensembl chr13:9,612,431...9,623,074
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G |
Pcbp3 |
poly(rC) binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:11,678,218...11,878,210
Ensembl chr20:11,678,269...11,878,210
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G |
Pcnt |
pericentrin |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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G |
Pde9a |
phosphodiesterase 9A |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
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G |
Pfkl |
phosphofructokinase, liver type |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315
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G |
Pitx3 |
paired-like homeodomain 3 |
|
ISO |
DNA:missense mutation, insertion:cds:p.S13N, G219fsX226 (human) |
RGD |
PMID:9620774 |
RGD:737764 |
NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892
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G |
Pknox1 |
PBX/knotted 1 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,662,866...9,705,030
Ensembl chr20:9,662,899...9,703,727
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G |
Pofut2 |
protein O-fucosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743
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G |
Prdm15 |
PR/SET domain 15 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr11:37,164,608...37,225,172
Ensembl chr11:37,165,575...37,222,207
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G |
Pttg1ip |
PTTG1 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316
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G |
Pwp2 |
PWP2, small subunit processome component |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640
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G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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G |
Rrp1 |
ribosomal RNA processing 1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144
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G |
Rrp1b |
ribosomal RNA processing 1B |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928
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G |
Rsph1 |
radial spoke head component 1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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G |
Sik1 |
salt-inducible kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
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G |
Slc19a1 |
solute carrier family 19 member 1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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G |
Slc37a1 |
solute carrier family 37 member 1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,360,501...9,433,895
Ensembl chr20:9,378,836...9,433,892
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G |
Slx9 |
SLX9 ribosome biogenesis factor |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521
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G |
Spatc1l |
spermatogenesis and centriole associated 1-like |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301
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G |
Sumo3 |
small ubiquitin-like modifier 3 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,010,140...11,020,850
Ensembl chr20:11,007,148...11,020,877 Ensembl chr20:11,007,148...11,020,877
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G |
Tff1 |
trefoil factor 1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
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G |
Tff2 |
trefoil factor 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619
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G |
Tff3 |
trefoil factor 3 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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G |
Tmprss3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
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G |
Trappc10 |
trafficking protein particle complex subunit 10 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
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G |
Trpm2 |
transient receptor potential cation channel, subfamily M, member 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181
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G |
Tspear |
thrombospondin-type laminin G domain and EAR repeats |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
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G |
U2af1 |
U2 small nuclear RNA auxiliary factor 1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
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G |
Ubash3a |
ubiquitin associated and SH3 domain containing, A |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,291,471...9,334,685
Ensembl chr20:9,292,139...9,329,224
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G |
Ube2g2 |
ubiquitin-conjugating enzyme E2G 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,983,734...11,005,468
Ensembl chr20:10,983,742...11,005,447
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G |
Umodl1 |
uromodulin-like 1 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,027,751...9,087,133
Ensembl chr20:9,025,724...9,087,146
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G |
Wdr4 |
WD repeat domain 4 |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
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G |
Ybey |
ybeY metalloendoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713
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G |
Zbtb21 |
zinc finger and BTB domain containing 21 |
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ISO |
ClinVar Annotator: match by term: Cataract 9 multiple types |
ClinVar |
PMID:28492532 |
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NCBI chr11:37,312,337...37,327,040
Ensembl chr11:37,312,378...37,326,996
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G |
Gja8 |
gap junction protein, alpha 8 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cataract microcornea syndrome |
CTD ClinVar |
PMID:1975179 PMID:11846744 PMID:14627691 PMID:16604058 PMID:18334946 PMID:19684000 PMID:21228318 PMID:21686328 PMID:23508780 PMID:23832966 PMID:25003127 PMID:25260631 PMID:25741868 PMID:26694549 PMID:28392901 PMID:28492532 PMID:28827829 PMID:28839118 PMID:29464339 PMID:30076350 PMID:30498267 PMID:31618082 PMID:32830442 PMID:33923544 PMID:36161833 More...
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NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
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G |
Maf |
MAF bZIP transcription factor |
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ISO |
DNA:missense mutations: :p.R299S (c.895C>A), p.K320E (c.958A>G) (human) |
RGD |
PMID:19182255 |
RGD:13204740 |
NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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G |
Cryba1 |
crystallin, beta A1 |
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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 chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726
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G |
Gja3 |
gap junction protein, alpha 3 |
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ISO |
DNA:missense mutation:cds:p.N188T (human) |
RGD |
PMID:15448617 |
RGD:1578473 |
NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810
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G |
Cryaa |
crystallin, alpha A |
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ISO |
ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 1 |
ClinVar |
PMID:9467006 PMID:10684623 PMID:11123904 PMID:16564818 PMID:16735993 PMID:17296897 PMID:17724170 PMID:17937925 PMID:18085469 PMID:18302245 PMID:18587492 PMID:19503744 PMID:20079887 PMID:22045060 PMID:22140512 PMID:22216983 PMID:22347476 PMID:23379525 PMID:23441109 PMID:23508780 PMID:25018622 PMID:25694240 PMID:25741868 PMID:26694549 PMID:28179137 PMID:28492532 PMID:28839118 PMID:29386872 More...
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NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
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G |
Crygd |
crystallin, gamma D |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonnuclear polymorphic congenital cataract |
ClinVar |
PMID:10521291 PMID:12011157 PMID:12676897 PMID:17724170 PMID:18587492 PMID:19390652 PMID:21827768 PMID:22995991 PMID:23508780 PMID:24465161 PMID:25403472 PMID:25741868 PMID:26694549 PMID:28474685 PMID:28492532 PMID:29914532 PMID:32830442 PMID:33243271 More...
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NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067
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G |
Cryba4 |
crystallin, beta A4 |
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ISO |
ClinVar Annotator: match by term: Cataract, lamellar 2 |
ClinVar |
PMID:25741868 PMID:26694549 PMID:28492532 |
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NCBI chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221
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G |
Crybb2 |
crystallin, beta B2 |
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ISO |
ClinVar Annotator: match by term: Cataract, sutural, with punctate and cerulean opacities |
ClinVar |
PMID:2240043 PMID:8812489 PMID:9158139 PMID:10634616 PMID:11424921 PMID:15889016 PMID:17234267 PMID:19649175 PMID:24120835 PMID:24704203 PMID:25741868 PMID:27385965 PMID:28492532 PMID:29395391 More...
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NCBI chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671
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G |
Iars2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
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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 PMID:33327715 PMID:33972171 More...
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NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 |
ClinVar OMIM |
PMID:32554502 |
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G |
Nop10 |
NOP10 ribonucleoprotein |
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ISO |
ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 |
ClinVar OMIM |
PMID:32554502 |
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NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
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G |
Far1 |
fatty acyl CoA reductase 1 |
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ISO |
ClinVar Annotator: match by term: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY | ClinVar Annotator: match by term: FAR1-related neurodevelopmental disorder |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33239752 |
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NCBI chr 1:167,644,622...167,705,868
Ensembl chr 1:167,644,677...167,705,730
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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ISO |
DNA:missense mutations:p.R616W, p.D681N (human) ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:3341805 PMID:7585650 PMID:7825573 PMID:7920640 PMID:8571952 PMID:9101292 PMID:9195225 PMID:9238033 PMID:9536098 PMID:9651581 PMID:9758621 PMID:10447254 PMID:11156600 PMID:11242112 PMID:11335038 PMID:11443545 PMID:11585917 PMID:11709541 PMID:11710928 PMID:11734544 PMID:12116233 PMID:12820975 PMID:15494306 PMID:15534626 PMID:15982307 PMID:16054878 PMID:16135823 PMID:16199547 PMID:17576681 PMID:18470933 PMID:18510924 PMID:18510925 PMID:18637129 PMID:18709642 PMID:19085937 PMID:19179371 PMID:19434073 PMID:19470925 PMID:19931493 PMID:19934020 PMID:20633800 PMID:20944642 PMID:22234153 PMID:22826098 PMID:23039039 PMID:23221806 PMID:23232694 PMID:23382212 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24418926 PMID:24448499 PMID:24514865 PMID:24728327 PMID:25002996 PMID:25431422 PMID:25620205 PMID:25716912 PMID:25741868 PMID:26344056 PMID:26556299 PMID:26577220 PMID:26884178 PMID:26957611 PMID:26993158 PMID:27004399 PMID:27396511 PMID:27504877 PMID:27607234 PMID:27878435 PMID:28492532 PMID:28749383 PMID:29141312 PMID:29169765 PMID:29478780 PMID:29607586 PMID:29754767 PMID:30919937 PMID:31110295 PMID:31282071 PMID:31803976 PMID:31937902 PMID:32047639 PMID:32191290 PMID:32830346 PMID:32974964 PMID:33095795 PMID:33199492 PMID:33711971 PMID:34308104 PMID:34645488 PMID:35477182 PMID:35615778 PMID:35699229 PMID:36033485 PMID:38216115 PMID:11443545 More...
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RGD:1601070 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Klc3 |
kinesin light chain 3 |
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ISO |
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416
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G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 |
OMIM CTD ClinVar |
PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287 PMID:33315086 More...
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NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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G |
Polr1g |
RNA polymerase I subunit G |
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ISO |
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33116287 |
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NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766
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G |
Ctdp1 |
CTD phosphatase subunit 1 |
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ISO |
ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:14517542 PMID:15322984 PMID:16194727 PMID:20301787 PMID:23408394 PMID:24690360 PMID:25741868 PMID:28492532 PMID:29174527 More...
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NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457
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G |
Gja3 |
gap junction protein, alpha 3 |
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ISO |
ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy |
ClinVar |
PMID:21031021 PMID:25741868 PMID:28839118 PMID:29461512 PMID:36161833 |
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NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810
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G |
Slc33a1 |
solute carrier family 33 member 1 |
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ISO |
ClinVar Annotator: match by term: Huppke-Brendel syndrome |
OMIM ClinVar |
PMID:15902551 PMID:22243965 PMID:22508683 PMID:25741868 PMID:27306358 PMID:28492532 PMID:31194315 PMID:35999711 More...
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NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
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G |
Inpp5k |
inositol polyphosphate-5-phosphatase K |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability |
OMIM ClinVar |
PMID:25741868 PMID:28190456 PMID:28190459 PMID:28492532 PMID:33792664 |
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NCBI chr10:60,474,262...60,495,813
Ensembl chr10:60,475,897...60,496,773
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G |
Epha2 |
Eph receptor A2 |
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ISO |
ClinVar Annotator: match by term: Cortical senile cataract |
ClinVar |
PMID:19649315 PMID:20625407 PMID:22645087 PMID:22829731 PMID:23447127 PMID:24705208 PMID:28492532 PMID:29267365 More...
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NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117
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G |
Crygd |
crystallin, gamma D |
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ISO |
ClinVar Annotator: match by term: Aculeiform cataract |
ClinVar |
PMID:9927684 PMID:10521291 PMID:10688888 PMID:10704279 PMID:11371638 PMID:12011157 PMID:12676897 PMID:16446699 PMID:17724170 PMID:18587492 PMID:19382745 PMID:19390652 PMID:19668596 PMID:21827768 PMID:22995991 PMID:23508780 PMID:24465161 PMID:25403472 PMID:25741868 PMID:26694549 PMID:27455011 PMID:28166811 PMID:28450710 PMID:28474685 PMID:28492532 PMID:29914532 PMID:32830442 PMID:33243271 More...
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NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067
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G |
Psmc3 |
proteasome 26S subunit, ATPase 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, cataract, impaired intellectual development, and polyneuropathy |
ClinVar OMIM |
PMID:32500975 |
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NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358
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G |
Gsr |
glutathione-disulfide reductase |
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ISO |
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RGD |
PMID:12518238 |
RGD:10401829 |
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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G |
Mir184 |
microRNA 184 |
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ISO |
ClinVar Annotator: match by term: EDICT syndrome |
OMIM ClinVar |
PMID:11874753 PMID:14638698 PMID:21996275 PMID:22131394 |
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NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210
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G |
Cav1 |
caveolin 1 |
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ISO |
ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome |
OMIM ClinVar |
PMID:11739396 PMID:18211975 PMID:18237401 PMID:25356970 PMID:25741868 PMID:25898808 PMID:28492532 PMID:34643546 More...
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NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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G |
Hdlbp |
high density lipoprotein binding protein |
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ISO |
ClinVar Annotator: match by term: Fine-Lubinsky syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048
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G |
Por |
cytochrome p450 oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Fine-Lubinsky syndrome |
ClinVar |
PMID:22162478 PMID:25741868 |
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NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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G |
Slc39a13 |
solute carrier family 39 member 13 |
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ISO |
ClinVar Annotator: match by term: Fine-Lubinsky syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
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 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome |
ClinVar |
PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 |
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NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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G |
Pax6 |
paired box 6 |
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ISO |
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 | 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 term: Foveal hypoplasia and presenile cataract syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 PMID:10441571 PMID:12634864 PMID:12868034 PMID:14744876 PMID:15086958 PMID:15629294 PMID:16407227 PMID:17417613 PMID:18332330 PMID:18483559 PMID:18776953 PMID:22361317 PMID:22692063 PMID:23404109 PMID:25741868 PMID:26604670 PMID:26661695 PMID:27013732 PMID:28321846 PMID:28492532 PMID:32360764 More...
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Jam3 |
junctional adhesion molecule 3 |
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ISO |
ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts |
OMIM ClinVar |
PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 PMID:32860008 More...
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NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
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G |
Aldh18a1 |
aldehyde dehydrogenase 18 family, member A1 |
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ISO |
ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy | ClinVar Annotator: match by term: Cataracts, motor neuronopathy, short stature and skeletal abnormalities | ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX CTD Direct Evidence: marker/mechanism DNA:mutations:cds:p.V243L, p.R252Q(human) |
OMIM ClinVar CTD RGD |
PMID:8779323 PMID:9643297 PMID:9973297 PMID:25741868 PMID:26026163 PMID:26297558 PMID:26320891 PMID:28492532 PMID:37119015 PMID:37712079 PMID:26297558 More...
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RGD:11056004 |
NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
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G |
P3h2 |
prolyl 3-hydroxylase 2 |
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ISO |
ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration | ClinVar Annotator: match by term: P3H2-related condition |
OMIM ClinVar |
PMID:21885030 PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 PMID:31456290 More...
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NCBI chr11:74,634,267...74,775,422
Ensembl chr11:74,634,267...74,775,421
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G |
Ftl1 |
ferritin light chain 1 |
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ISO |
DNA:deletion:5' utr: (human) ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts CTD Direct Evidence: marker/mechanism DNA:mutations:5'utr: |
ClinVar CTD OMIM RGD |
PMID:2336358 PMID:7492760 PMID:7493028 PMID:7669675 PMID:8233801 PMID:8781450 PMID:9226182 PMID:9292547 PMID:9414300 PMID:9414313 PMID:9536098 PMID:10366790 PMID:10366804 PMID:10383191 PMID:10759702 PMID:11438811 PMID:11703332 PMID:11849230 PMID:12199804 PMID:12200611 PMID:12670350 PMID:12730114 PMID:12746423 PMID:14662596 PMID:15173247 PMID:16395671 PMID:16518306 PMID:16900584 PMID:17182944 PMID:17576681 PMID:18414213 PMID:18710380 PMID:18854324 PMID:19176363 PMID:19800271 PMID:21541272 PMID:21907119 PMID:22881709 PMID:23300176 PMID:23421845 PMID:23592921 PMID:24766965 PMID:25741868 PMID:25832658 PMID:26633542 PMID:26849797 PMID:27096259 PMID:28492532 PMID:28746593 PMID:29269865 PMID:30401656 PMID:30678075 PMID:31414986 PMID:32241646 PMID:9292547 PMID:22020773 More...
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RGD:1598966, RGD:5509864 |
NCBI chr 1:95,936,387...95,938,234
Ensembl chr 1:95,936,387...95,939,725 Ensembl chr10:95,936,387...95,939,725 Ensembl chr 2:95,936,387...95,939,725
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G |
Gys1 |
glycogen synthase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts |
ClinVar |
PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292
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G |
Cdca7l |
cell division cycle associated 7 like |
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ISO |
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
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NCBI chr 6:138,793,953...138,839,889
Ensembl chr 6:138,794,228...138,839,888
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G |
Dnah11 |
dynein, axonemal, heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
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NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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G |
Hycc1 |
hyccin PI4KA lipid kinase complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:16951682 PMID:17576681 PMID:17683097 PMID:17928815 PMID:18022865 PMID:20301737 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:25741868 PMID:26571211 PMID:28492532 PMID:32148946 PMID:34192786 More...
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NCBI chr 4:11,132,224...11,239,120
Ensembl chr 4:11,132,385...11,239,113
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G |
Il6 |
interleukin 6 |
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ISO |
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Rapgef5 |
Rap guanine nucleotide exchange factor 5 |
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ISO |
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
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NCBI chr 6:138,445,184...138,679,943
Ensembl chr 6:138,437,991...138,679,936
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Sp4 |
Sp4 transcription factor |
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ISO |
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
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NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126
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Tomm7 |
translocase of outer mitochondrial membrane 7 |
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ISO |
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
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NCBI chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962
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Gls |
glutaminase |
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ISO |
ClinVar Annotator: match by term: Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development |
OMIM ClinVar |
PMID:25741868 PMID:30239721 |
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NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
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Six6 |
SIX homeobox 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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Cryba4 |
crystallin, beta A4 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 4 |
ClinVar |
PMID:25741868 PMID:26694549 PMID:28492532 |
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NCBI chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221
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Itm2b |
integral membrane protein 2B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica |
OMIM CTD ClinVar |
PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 |
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NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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Srd5a3 |
steroid 5 alpha-reductase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE |
OMIM CTD ClinVar |
PMID:18781183 PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 PMID:24433453 PMID:25326635 PMID:25741868 PMID:27480077 PMID:28492532 PMID:28940310 PMID:31638560 PMID:32581362 More...
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NCBI chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747
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Eif2a |
eukaryotic translation initiation factor 2A |
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ISO |
ClinVar Annotator: match by term: Marinesco-Sjögren syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:142,761,303...142,794,767
Ensembl chr 2:142,761,416...142,795,068
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Sil1 |
SIL1 nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: Marinesco-Sjogren Syndrome | ClinVar Annotator: match by term: Marinesco-Sjogren-Garland Syndrome | ClinVar Annotator: match by term: Marinesco-Sjögren syndrome |
ClinVar |
PMID:9536098 PMID:10665502 PMID:12692552 PMID:16199547 PMID:16282977 PMID:16282978 PMID:17026626 PMID:17309654 PMID:17576681 PMID:18285827 PMID:19471582 PMID:20111056 PMID:21873089 PMID:22995991 PMID:23062754 PMID:23829326 PMID:24176978 PMID:24473200 PMID:24631270 PMID:24755310 PMID:25741868 PMID:26467025 PMID:26733775 PMID:28492532 PMID:31130284 PMID:31258504 PMID:32502767 PMID:32552793 PMID:33250842 More...
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NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
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Col11a1 |
collagen type XI alpha 1 chain |
susceptibility |
ISO |
DNA:SNP:splice junction: ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 PMID:13520885 PMID:17236192 PMID:17576681 PMID:17999364 PMID:19449424 PMID:20513134 PMID:25073711 PMID:25240749 PMID:25741868 PMID:26377240 PMID:26467025 PMID:28492532 PMID:30020262 PMID:32381727 PMID:32578940 PMID:32756486 PMID:32963807 PMID:33951325 PMID:34589056 PMID:34627339 PMID:9529347 More...
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RGD:1600881 |
NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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Pcdh12 |
protocadherin 12 |
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ISO |
ClinVar Annotator: match by term: Marshall syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:30,103,728...30,119,307
Ensembl chr18:30,103,728...30,119,307
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Rnf14 |
ring finger protein 14 |
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ISO |
ClinVar Annotator: match by term: Marshall syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:30,131,627...30,155,686
Ensembl chr18:30,131,691...30,155,685
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Rnpc3 |
RNA-binding region (RNP1, RRM) containing 3 |
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ISO |
ClinVar Annotator: match by term: Marshall syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:201,432,769...201,457,015
Ensembl chr 2:201,432,684...201,456,747
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Col11a1 |
collagen type XI alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Marshall/Stickler syndrome |
ClinVar |
PMID:1536174 PMID:10486316 |
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NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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Bpnt1 |
3'(2'), 5'-bisphosphate nucleotidase 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,865,634...96,893,506
Ensembl chr13:96,868,580...96,893,503
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C13h1orf115 |
similar to human chromosome 1 open reading frame 115 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,422,308...96,432,044
Ensembl chr13:96,422,302...96,432,068
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Eprs1 |
glutamyl-prolyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966
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Iars2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501
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Lyplal1 |
lysophospholipase-like 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:97,626,568...97,657,901
Ensembl chr13:97,626,451...97,657,867
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Mark1 |
microtubule affinity regulating kinase 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,450,189...96,555,304
Ensembl chr13:96,451,487...96,555,173
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Mir194-1 |
microRNA 194-1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,851,166...96,851,248
Ensembl chr13:96,851,166...96,851,248
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Mtarc1 |
mitochondrial amidoxime reducing component 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,324,377...96,362,677
Ensembl chr13:96,339,757...96,397,796
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Mtarc2 |
mitochondrial amidoxime reducing component 2 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,362,810...96,397,284
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Rab3gap1 |
RAB3 GTPase activating protein catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:29300443 |
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NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
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Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cataract mental retardation hypogonadism | ClinVar Annotator: match by term: Martsolf syndrome |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:16532399 PMID:17576681 PMID:18414213 PMID:23420520 PMID:24033266 PMID:24891604 PMID:25533962 PMID:25640679 PMID:25741868 PMID:28492532 PMID:29300443 PMID:29419336 PMID:32740904 PMID:32870266 More...
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NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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Slc30a10 |
solute carrier family 30, member 10 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
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Tgfb2 |
transforming growth factor, beta 2 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Arhgap35 |
Rho GTPase activating protein 35 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:77,202,436...77,319,298
Ensembl chr 1:77,202,436...77,319,298
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Arhgap5 |
Rho GTPase activating protein 5 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Igsf10 |
immunoglobulin superfamily, member 10 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:143,575,710...143,605,044
Ensembl chr 2:143,576,070...143,604,773
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Klb |
klotho beta |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
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Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
OMIM ClinVar |
PMID:16532399 PMID:23420520 PMID:24891604 PMID:25741868 PMID:28492532 PMID:29300443 PMID:32740904 More...
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NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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Sema3a |
semaphorin 3A |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:22927827 PMID:25741868 |
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NCBI chr 4:21,282,398...21,754,834
Ensembl chr 4:21,287,982...21,494,432
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Tubb3 |
tubulin, beta 3 class III |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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Wfdc17 |
WAP four-disulfide core domain 17 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:11044805 PMID:15001591 PMID:25077900 PMID:25741868 |
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NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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Rab3gap1 |
RAB3 GTPase activating protein catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 2 |
OMIM ClinVar |
PMID:23420520 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29300443 PMID:30730599 PMID:33306828 More...
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NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
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Kcna4 |
potassium voltage-gated channel subfamily A member 4 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum |
OMIM ClinVar |
PMID:23181898 PMID:25741868 PMID:27582084 |
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NCBI chr 3:93,756,399...93,778,004
Ensembl chr 3:93,756,446...93,769,162
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