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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:cataract
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Accession:DOID:83 term browser browse the term
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;   Lens Opacities;   Lens Opacity;   cataracts;   membranous cataract;   membranous cataracts;   pseudoaphakia;   pseudoaphakias
 narrow_synonym: CONGENITAL NUCLEAR CATARACT;   CORTICAL PULVERULENT CATARACT;   congenital cataract
 primary_id: MESH:D002386
 xref: ICD10CM:H26;   ICD9CM:366.8;   OMIM:PS116200
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 IEP mRNA:increased expression:retina RGD PMID:23941810 RGD:13703031 NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
JBrowse link
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B susceptibility
treatment
IDA
ISO
IMP
associated with Galactosemia
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.(AC)n (human)
human gene in mouse model
CTD PMID:21329682, PMID:21376710, PMID:25541468, PMID:28137510, PMID:17444799, PMID:24360973, PMID:18452283, PMID:21329682 RGD:1626083, RGD:8548672, RGD:8548671, RGD:8548638 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) RGD PMID:26320891 RGD:13434923 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28038895 NCBI chr10:47,490,168...47,499,855
Ensembl chr10:47,490,153...47,499,876
JBrowse link
G Anxa1 annexin A1 ISO
IEP
DNA, protein:polymorphism: :p.R212I (mouse) RGD PMID:19003866, PMID:1385581 RGD:7421556, RGD:7421566 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16799786 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atp2b1 ATPase plasma membrane Ca2+ transporting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15003327 NCBI chr 7:41,114,606...41,223,138
Ensembl chr 7:41,114,697...41,220,579
JBrowse link
G B2m beta-2 microglobulin ISO associated with Diabetic Nephropathies RGD PMID:12567748 RGD:2311237 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:24728327, PMID:26694549, PMID:28492532 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
G Bfsp2 beaded filament structural protein 2 susceptibility ISO ClinVar Annotator: match by term: Cataract
protein:missense mutation:exon:p.R287W (human)
ClinVar PMID:10729115 RGD:1600516 NCBI chr 8:111,908,614...111,965,889
Ensembl chr 8:111,908,614...111,965,889
JBrowse link
G Brca2 BRCA2, DNA repair associated IAGP DNA:nonsense mutation RGD PMID:16964288 RGD:1599505 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:23508955 RGD:13782357 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:23508955 RGD:13782357 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cat catalase no_association
treatment
ISO
IEP
protein:decreased activity:erythrocyte:
protein:decreased activity:lens:
RGD PMID:15295623, PMID:11408722, PMID:21635889 RGD:9068905, RGD:9068911, RGD:9068909 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Catsperd cation channel sperm associated auxiliary subunit delta ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr 9:10,390,307...10,428,666
Ensembl chr 9:10,390,308...10,427,746
JBrowse link
G Cck cholecystokinin IDA associated with Diabetes Mellitus, Experimental RGD PMID:16989746 RGD:2313636 NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 IEP associated with Diabetes Mellitus, Type 1;protein:increased expression:serum RGD PMID:23049540 RGD:7248415 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation IAGP RGD PMID:17030811 RGD:2293616
G Clock clock circadian regulator ISO RGD PMID:21149897 RGD:10401871 NCBI chr14:34,418,226...34,502,218
Ensembl chr14:34,446,616...34,502,218
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Cataract ClinVar NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8317498 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Cryaa crystallin, alpha A IEP
ISO
IDA
Protein:altered localization:plasma membrane
ClinVar Annotator: match by term: Congenital cataract
protein:decreased expression:lens:
CTD Direct Evidence: marker/mechanism
Protein:increased modification
ClinVar
CTD
PMID:9467006, PMID:17724170, PMID:17937925, PMID:18587492, PMID:22045060, PMID:22140512, PMID:22347476, PMID:23379525, PMID:25018622, PMID:25694240, PMID:26694549, PMID:28179137, PMID:28492532, PMID:1424724, PMID:19120020, PMID:15042443 RGD:1600993, RGD:13503352, RGD:1600984 NCBI chr20:10,438,444...10,442,189
Ensembl chr20:10,438,444...10,442,187
JBrowse link
G Cryab crystallin, alpha B ISO
IEP
ClinVar Annotator: match by term: Congenital cataract
protein:decreased expression:lens:
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1560021, PMID:11577372, PMID:16483541, PMID:16793013, PMID:17116488, PMID:20171888, PMID:21920752, PMID:22106715, PMID:22995991, PMID:23194663, PMID:23299917, PMID:24033266, PMID:25208129, PMID:25741868, PMID:26694549, PMID:26961874, PMID:28492532, PMID:19120020 RGD:13503352 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
JBrowse link
G Cryba1 crystallin, beta A1 ISO DNA:splice-site mutation:intron:c.215+1G>A (human)
associated with Diabetes Mellitus, Type 1;mRNA,protein:increased expression:lens:
DNA:splice-site mutation:intron:IVS3+1G>A(human)
DNA:splice-site mutation:intron:IVS3+1G>T(human)
RGD PMID:22919269, PMID:24520233, PMID:20142846, PMID:21850182 RGD:10059634, RGD:10059653, RGD:10059642, RGD:10059641 NCBI chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494
JBrowse link
G Cryba4 crystallin, beta A4 IEP
ISO
protein:decreased expression:lens
ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Cataract, congenital
ClinVar PMID:26694549, PMID:28272538, PMID:28492532, PMID:10726880 RGD:2303653 NCBI chr12:50,407,843...50,414,434
Ensembl chr12:50,407,843...50,414,432
JBrowse link
G Crybb1 crystallin, beta B1 ISO DNA:nonsense mutation:cds:p.G220X (human)
ClinVar Annotator: match by term: Cataract, congenital
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cataract
ClinVar
CTD
PMID:12360425, PMID:26694549, PMID:28272538, PMID:12360425 RGD:728217 NCBI chr12:50,390,939...50,404,550
Ensembl chr12:50,390,940...50,404,550
JBrowse link
G Crybb2 crystallin, beta B2 susceptibility ISO congenital cerulean cataract type 2, OMIM:601547;DNA:nonsense mutation
ClinVar Annotator: match by term: Lens opacity
ClinVar Annotator: match by term: Congenital cataract
DNA:nonsense mutation: :p.Q155X (human)
ClinVar PMID:2240043, PMID:8812489, PMID:9158139, PMID:10634616, PMID:11424921, PMID:17234267, PMID:26694549, PMID:30311386, PMID:9158139, PMID:11424921 RGD:1601011, RGD:734832 NCBI chr12:49,577,580...49,588,555
Ensembl chr12:49,578,633...49,588,555
JBrowse link
G Crybb3 crystallin, beta B3 ISO ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Congenital nuclear cataract
ClinVar PMID:15914629, PMID:25741868, PMID:26694549, PMID:28492532 NCBI chr12:49,564,991...49,571,008
Ensembl chr12:49,565,992...49,571,006
JBrowse link
G Cryga crystallin, gamma A ISO
ISS
ClinVar Annotator: match by term: Congenital cataract
OMIM:601371
ClinVar
MouseDO
NCBI chr 9:71,828,308...71,855,900
Ensembl chr 9:71,835,883...71,852,113
Ensembl chr 9:71,835,883...71,852,113
JBrowse link
G Crygc crystallin, gamma C susceptibility ISO Coppock-like cataract, OMIM:604307;DNA:transversion:exon:225A>C
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cataract
CTD
ClinVar
PMID:10914683, PMID:11773036, PMID:24281366, PMID:26694549, PMID:10521291 RGD:1601015 NCBI chr 9:71,786,246...71,788,281
Ensembl chr 9:71,786,248...71,788,281
JBrowse link
G Crygd crystallin, gamma D TAS
ISO
ClinVar Annotator: match by term: Congenital cataract
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract
ClinVar
CTD
PMID:9927684, PMID:12011157, PMID:12676897, PMID:17724170, PMID:21827768, PMID:25403472, PMID:26694549, PMID:28474685, PMID:28492532, PMID:30242128, PMID:7849105 RGD:1298817 NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323
JBrowse link
G Crygs crystallin, gamma S ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141006 NCBI chr11:81,796,891...81,802,172
Ensembl chr11:81,796,891...81,802,172
JBrowse link
G Cth cystathionine gamma-lyase IDA RGD PMID:15683713 RGD:1600763 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:7915755, PMID:10406988, PMID:11903362, PMID:12270007, PMID:17319284, PMID:17697869, PMID:20558929, PMID:22336472, PMID:28492532, PMID:29321515, PMID:30311386 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
JBrowse link
G Dennd11 DENN domain containing 11 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 4:68,569,308...68,597,626
Ensembl chr 4:68,569,691...68,597,586
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:10814720, PMID:10995508, PMID:11427181, PMID:20104611, PMID:22382802, PMID:22929031, PMID:23042628, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
JBrowse link
G Dmd dystrophin disease_progression ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:23352160, PMID:23871722, PMID:26467025, PMID:26743743, PMID:26990548, PMID:28492532, PMID:30311386, PMID:30415094, PMID:25489223 RGD:12879865 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dnase2b deoxyribonuclease 2 beta ISS OMIM:601371 MouseDO NCBI chr 2:252,436,363...252,475,506
Ensembl chr 2:252,436,332...252,451,999
JBrowse link
G Epha2 Eph receptor A2 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549 NCBI chr 5:159,845,773...159,874,203
Ensembl chr 5:159,845,774...159,874,206
JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:mutation:cds:c.2209T>C (p.S37P) (human) RGD PMID:25951169 RGD:12880390 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr 1:229,003,778...229,019,532
Ensembl chr 1:229,003,961...229,019,527
JBrowse link
G Fas Fas cell surface death receptor ISO associated with Diabetic Retinopathy; mRNA,protein:increased expression:epithelial cell RGD PMID:12658358 RGD:2315757 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 IAGP RGD PMID:16440058 RGD:1626611 NCBI chr15:46,339,248...46,367,302
Ensembl chr15:46,339,249...46,367,302
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO mRNA:increased expression:lens, epithelial cell RGD PMID:19491954 RGD:8554856 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 8:132,844,042...132,910,905
Ensembl chr 8:132,844,043...132,911,193
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IDA
ISO
ClinVar Annotator: match by term: Lens opacity ClinVar PMID:1562739, PMID:2263506, PMID:6714986, PMID:8447319, PMID:8537082, PMID:9299858, PMID:10643148, PMID:11499668, PMID:16143877, PMID:17726510, PMID:20203002, PMID:21446359, PMID:23365477, PMID:25541721, PMID:25775246, PMID:26060661, PMID:26823837, PMID:28492532, PMID:30311386, PMID:24886740 RGD:10449123 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Galk1 galactokinase 1 ISO DNA:missense mutation, nonsense mutation:cds:p.V32M, p.E80X (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:7670469, PMID:7670469 RGD:1300192 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISS OMIM:601371 MouseDO NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Gcnt2 glucosaminyl (N-acetyl) transferase 2 (I blood group) ISO DNA:nonsense mutation:exon:
ClinVar Annotator: match by term: Congenital cataract
ClinVar PMID:15161861 RGD:8693611 NCBI chr17:21,634,546...21,677,477
Ensembl chr17:21,634,551...21,739,408
JBrowse link
G Gemin4 gem (nuclear organelle) associated protein 4 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25558065, PMID:27878435 NCBI chr10:64,364,808...64,375,885
Ensembl chr10:64,368,809...64,375,816
JBrowse link
G Gja3 gap junction protein, alpha 3 IAGP
ISO
DNA:missense mutation
ClinVar Annotator: match by term: Congenital cataract
ClinVar PMID:15208569, PMID:19182255, PMID:26694549, PMID:27609163, PMID:28492532, PMID:16271086 RGD:1599824 NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178
JBrowse link
G Gja8 gap junction protein, alpha 8 IAGP
ISO
ClinVar Annotator: match by term: Congenital cataract
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9497259, PMID:18334946, PMID:21228318, PMID:25003127, PMID:26694549, PMID:28492532, PMID:12356818 RGD:629571 NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
JBrowse link
G Gja8m1Cas gap junction protein, alpha 8; mutant 1 Cas IAGP RGD PMID:12356818 RGD:629571
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:2706105, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9482292, PMID:9600457, PMID:9620796, PMID:9819448, PMID:10204859, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10508996, PMID:10544226, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10782932, PMID:10807696, PMID:10982182, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11483639, PMID:11493200, PMID:11668644, PMID:11918723, PMID:12072059, PMID:12081719, PMID:12172392, PMID:12176036, PMID:12239718, PMID:12522556, PMID:12684873, PMID:12786762, PMID:14070830, PMID:14986832, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15359540, PMID:15365987, PMID:15482471, PMID:15666300, PMID:15954104, PMID:15967879, PMID:16088916, PMID:16336662, PMID:16380907, PMID:16773579, PMID:16868655, PMID:17428550, PMID:17553572, PMID:17993581, PMID:18294064, PMID:18414213, PMID:18804553, PMID:18925674, PMID:18985073, PMID:19371219, PMID:19375528, PMID:19925344, PMID:20073550, PMID:20236118, PMID:20301449, PMID:20739944, PMID:20815033, PMID:21056478, PMID:21465647, PMID:21468573, PMID:21910243, PMID:22567152, PMID:22855627, PMID:22975760, PMID:22981120, PMID:23489192, PMID:23757202, PMID:24033266, PMID:24158611, PMID:24346070, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26467025, PMID:26940866, PMID:26969326, PMID:28492532, PMID:29362677, PMID:29501291, PMID:30311386, PMID:30872814 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:30311386 NCBI chr10:85,273,839...85,289,886
Ensembl chr10:85,274,057...85,289,777
JBrowse link
G Gpx1 glutathione peroxidase 1 IDA RGD PMID:23194826 RGD:11353787 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsr glutathione-disulfide reductase treatment ISO
IDA
RGD PMID:947404, PMID:24530554 RGD:1600697, RGD:10401885 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association
ISO DNA:deletion:cds (human) RGD PMID:7781744, PMID:8631631 RGD:7488949, RGD:7488950 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association
ISO DNA:deletion:cds (human) RGD PMID:20335620, PMID:22876127 RGD:7794821, RGD:7794839 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:30311386 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
JBrowse link
G Hsf4 heat shock transcription factor 4 ISO autosomal dominant lamellar cataract, OMIM:116800
ClinVar Annotator: match by term: Cataract
ClinVar PMID:12089525 RGD:1599774 NCBI chr19:37,225,800...37,232,048
Ensembl chr19:37,226,186...37,231,912
JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:8409271, PMID:25130867 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906
JBrowse link
G Ifng interferon gamma ISO RGD PMID:8188461 RGD:8157612 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il18 interleukin 18 IEP associated with Diabetes Mellitus, Type 2;mRNA:increased expression:lens RGD PMID:18006521, PMID:21591858 RGD:8655879, RGD:8655881 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr11:46,615,091...46,693,565
Ensembl chr11:46,615,200...46,693,565
JBrowse link
G Lim2 lens intrinsic membrane protein 2 onset ISO DNA:missense mutation:cds: p.F105V (human)
ClinVar Annotator: match by term: Cataract
ClinVar Annotator: match by term: Cortical pulverulent cataract
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11917274, PMID:28450710, PMID:28492532, PMID:11917274 RGD:1600309 NCBI chr 1:98,495,082...98,501,248
Ensembl chr 1:98,495,082...98,501,249
JBrowse link
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr 9:10,428,853...10,441,180
Ensembl chr 9:10,428,853...10,441,177
JBrowse link
G Maf MAF bZIP transcription factor ISO DNA:missense mutation: :p.R288P (human)
ClinVar Annotator: match by term: Congenital cataract
DNA:missense mutation:exon:p.Q303P (c.908A>C) (human)
DNA:missense mutation: :p.D90V (mouse)
ClinVar PMID:25741868, PMID:26694549, PMID:30311386, PMID:11772997, PMID:24664492, PMID:17374726 RGD:1547889, RGD:13204738, RGD:13204737 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 IMP RGD PMID:11222509 RGD:12801446 NCBI chr 8:69,134,218...69,722,573
Ensembl chr 8:69,134,223...69,164,758
JBrowse link
G Miat myocardial infarction associated transcript ISO ClinVar Annotator: match by term: Cataract, congenital ClinVar PMID:28272538 NCBI chr12:50,447,251...50,461,859 JBrowse link
G Mip major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Cataract
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10802646, PMID:25741868, PMID:26694549, PMID:10802646 RGD:1599936 NCBI chr 7:2,635,743...2,642,995
Ensembl chr 7:2,635,743...2,642,848
JBrowse link
G Mir221 microRNA 221 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926320 NCBI chr  X:3,684,480...3,684,588
Ensembl chr  X:3,684,480...3,684,588
JBrowse link
G Mmaa metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868, PMID:28492532 NCBI chr19:32,294,087...32,325,927
Ensembl chr19:32,308,236...32,325,927
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:17062942 RGD:8693669 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs, haplotype: : 677C>T, 1298A>C (human) RGD PMID:16310481 RGD:7387253 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Ndrg2 NDRG family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22043305 NCBI chr15:28,305,820...28,314,459
Ensembl chr15:28,305,821...28,314,459
JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 9:65,478,496...65,488,708
Ensembl chr 9:65,478,496...65,488,702
JBrowse link
G Nectin3 nectin cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr11:57,897,879...57,995,193
Ensembl chr11:57,897,879...57,993,548
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 disease_progression ISO DNA:snps, haplotype:5' utr, intron:multiple (human) RGD PMID:20064547 RGD:6893326 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549, PMID:30311386 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IMP RGD PMID:12714641 RGD:4892118 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:23047739, PMID:25741868, PMID:26694549, PMID:28492532 NCBI chr  X:134,742,226...134,793,411
Ensembl chr  X:134,742,356...134,792,618
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:SNP: :p.S326C (rs1052133)(human) RGD PMID:22306120 RGD:8657151 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:30311386 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:1679030, PMID:8889590, PMID:9399896, PMID:9521426, PMID:11461190, PMID:12501224, PMID:16879198, PMID:17935162, PMID:21147011, PMID:21953985, PMID:22513348, PMID:23430547, PMID:23500595, PMID:25596310, PMID:25741868, PMID:26322415, PMID:28492532, PMID:30311386 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:20122277, PMID:20412113, PMID:20582465, PMID:20589654, PMID:21165770, PMID:21285249, PMID:21365267, PMID:24061862, PMID:24136930, PMID:24415441, PMID:25099575, PMID:25186627, PMID:25330149, PMID:25452441, PMID:25741868, PMID:25959805, PMID:26083025, PMID:26270727, PMID:26467025, PMID:26720728, PMID:26845104, PMID:27038244, PMID:27099641, PMID:27106063, PMID:28158555, PMID:28279176, PMID:28492532, PMID:30311386 NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520
JBrowse link
G Pax6 paired box 6 ISO human gene in a mouse model
ClinVar Annotator: match by term: Congenital cataract
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868, PMID:26694549, PMID:29178648, PMID:30221735, PMID:10954416, PMID:15161862 RGD:8552253, RGD:8552372 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 2:198,762,138...198,771,040
Ensembl chr 2:198,762,138...198,771,026
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Lens opacity
ClinVar Annotator: match by term: Cataract
ClinVar PMID:15378534, PMID:25741868, PMID:26220699, PMID:28492532 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Pitx3 paired-like homeodomain 3 ISO DNA:insertion:exon:c.657ins17bp
CTD Direct Evidence: marker/mechanism
CTD PMID:9620774, PMID:16565358, PMID:15665340 RGD:11535076 NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:25741868, PMID:26467025, PMID:30311386 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Pon1 paraoxonase 1 ISO associated with Diabetes Mellitus, Type 2;protein:decreased activity:eye, lens (human) RGD PMID:19439227 RGD:8547553 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:30311386 NCBI chr 3:177,098,137...177,162,937
Ensembl chr 3:177,098,073...177,162,916
JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 3:79,876,938...79,882,319
Ensembl chr 3:79,876,938...79,882,319
JBrowse link
G Pten phosphatase and tensin homolog ISO RGD PMID:24270425 RGD:12859033 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Pxdn peroxidasin ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549, PMID:28492532 NCBI chr 6:48,866,496...48,982,368
Ensembl chr 6:48,866,601...48,980,340
JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:30311386 NCBI chr 1:225,126,732...225,128,740
Ensembl chr 1:225,126,734...225,128,740
JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:30311386 NCBI chr15:47,344,380...47,384,461
Ensembl chr15:47,373,120...47,383,508
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:11710892, PMID:19597050, PMID:20129283, PMID:22581653, PMID:24033266, PMID:24400668, PMID:24613995, PMID:24681144, PMID:25741868, PMID:28492532, PMID:29728395, PMID:30311386 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:32581362 NCBI chr18:28,067,476...28,302,008
Ensembl chr18:28,067,484...28,301,863
JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
JBrowse link
G Slc16a12 solute carrier family 16, member 12 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549 NCBI chr 1:252,976,071...253,054,500
Ensembl chr 1:252,976,644...253,000,760
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Cataract ClinVar NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:11222509 RGD:12801446 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc2a3 solute carrier family 2 member 3 IEP associated with Diabetes Mellitus, Experimental RGD PMID:12882795 RGD:2313618 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919
JBrowse link
G Slc4a4 solute carrier family 4 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286
JBrowse link
G Slc9a1 solute carrier family 9 member A1 IMP associated with Diabetes Mellitus, Experimental RGD PMID:22407349 RGD:8693684 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
JBrowse link
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 chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sord sorbitol dehydrogenase ISS OMIM:601371 MouseDO NCBI chr 3:114,176,127...114,207,368
Ensembl chr 3:114,176,309...114,207,366
JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
JBrowse link
G Tdrd7 tudor domain containing 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cataract
CTD
ClinVar
PMID:21436445 NCBI chr 5:61,557,909...61,631,719
Ensembl chr 5:61,564,864...61,631,710
JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:21504908 RGD:8547757 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 NCBI chr  X:123,713,327...123,731,431
Ensembl chr  X:123,713,339...123,731,385
JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:30311386 NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:28492532, PMID:30311386 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cataract
CTD
ClinVar
PMID:19126778, PMID:26694549, PMID:30311386 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISS OMIM:601371 MouseDO NCBI chr 7:74,118,834...74,722,341 JBrowse link
G Xdh xanthine dehydrogenase treatment IEP
ISO
ClinVar Annotator: match by term: Lens opacity ClinVar PMID:25741868, PMID:28492532, PMID:25860848 RGD:13208958 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO associated with Radiation Injuries RGD PMID:18334943 RGD:10401127 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
JBrowse link
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb caseinolytic mitochondrial matrix peptidase chaperone subunit B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia OMIM
ClinVar
PMID:25595726, PMID:25597510, PMID:25597511, PMID:25650066, PMID:25741868, PMID:26916670, PMID:27290639, PMID:28492532, PMID:28554332, PMID:28687938, PMID:32313153 NCBI chr 1:166,739,372...166,866,095
Ensembl chr 1:166,739,532...166,866,107
JBrowse link
Aniridia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc5 doublecortin domain containing 5 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 3:97,207,500...97,435,067
Ensembl chr 3:97,256,881...97,433,651
JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 3:96,025,388...96,065,765
Ensembl chr 3:96,025,396...96,065,711
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:11309364, PMID:11431688, PMID:12552561, PMID:12731001, PMID:16098226, PMID:17630404, PMID:18483559, PMID:24138039, PMID:24290376, PMID:25741868, PMID:26661695, PMID:27124303, PMID:27431685, PMID:28321846, PMID:28492532, PMID:29618921 NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 3:95,955,126...96,024,316
Ensembl chr 3:95,959,703...96,024,836
JBrowse link
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:1954207, PMID:6988567, PMID:7550230, PMID:7666404, PMID:7951315, PMID:8111279, PMID:8111379, PMID:8364574, PMID:8640214, PMID:8689689, PMID:9138149, PMID:9281415, PMID:9482572, PMID:9651515, PMID:9727514, PMID:9792406, PMID:9931324, PMID:10234503, PMID:10412187, PMID:10737978, PMID:10887930, PMID:11284764, PMID:11309364, PMID:11431688, PMID:11479730, PMID:11553050, PMID:11826019, PMID:12015275, PMID:12552561, PMID:12634864, PMID:12721955, PMID:12731001, PMID:12868034, PMID:14561779, PMID:14744876, PMID:15086958, PMID:15579687, PMID:15846561, PMID:15889018, PMID:16098226, PMID:16493447, PMID:16712695, PMID:17148041, PMID:17406642, PMID:17417613, PMID:17568989, PMID:17595013, PMID:17630404, PMID:18241071, PMID:18483559, PMID:18776953, PMID:19218613, PMID:19862335, PMID:19876904, PMID:19898691, PMID:20054790, PMID:20577777, PMID:21397818, PMID:21423868, PMID:21848007, PMID:21850189, PMID:22171686, PMID:22361317, PMID:22509105, PMID:22692063, PMID:23734086, PMID:23761016, PMID:24138039, PMID:24390526, PMID:24737507, PMID:25678763, PMID:25741868, PMID:26010655, PMID:26535646, PMID:26661695, PMID:26694549, PMID:26849621, PMID:27081502, PMID:27081561, PMID:27124303, PMID:27307692, PMID:27431685, PMID:27455012, PMID:27463523, PMID:28321846, PMID:28488383, PMID:28492532, PMID:29217025, PMID:29618921, PMID:29780932, PMID:32860008 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 3:95,404,863...95,419,110
Ensembl chr 3:95,406,284...95,418,679
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:8975729, PMID:9090524, PMID:17630404, PMID:23349334, PMID:24138039, PMID:25741868, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
Ayme-Gripp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation
ClinVar Annotator: match by OMIM:601088
ClinVar
OMIM
PMID:8834052, PMID:8867660, PMID:12072800, PMID:17935251, PMID:25865493 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
cataract 1 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Zonular Pulverulent Cataract ClinVar NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178
JBrowse link
G Gja8 gap junction protein, alpha 8 ISO
IAGP
ClinVar Annotator: match by term: CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
ClinVar Annotator: match by term: Zonular Pulverulent Cataract
DNA:missense mutation:cds:p.L7Q(rat)
ClinVar Annotator: match by OMIM:116200
OMIM
ClinVar
PMID:9497259, PMID:10362609, PMID:10480374, PMID:11846744, PMID:12800976, PMID:14059288, PMID:14627691, PMID:16397066, PMID:16604058, PMID:17724170, PMID:18006672, PMID:18334946, PMID:18334966, PMID:18587493, PMID:19073179, PMID:21174522, PMID:21228318, PMID:23508780, PMID:23555834, PMID:24281366, PMID:24535056, PMID:25003127, PMID:25741868, PMID:26694549, PMID:28392901, PMID:28492532, PMID:29464339, PMID:18470322 RGD:2293186 NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
JBrowse link
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub IAGP RGD PMID:18470322 RGD:2293186
cataract 10 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 ISO ClinVar Annotator: match by term: Cataract, congenital zonular, with sutural opacities
DNA:mutation:exon:170T>A(mouse)
ClinVar Annotator: match by OMIM:600881
OMIM
ClinVar
PMID:9788845, PMID:14598164, PMID:15016766, PMID:20142846, PMID:21686330, PMID:21850182, PMID:22919269, PMID:24281366, PMID:24926697, PMID:25461968, PMID:25741868, PMID:26851658, PMID:28149769, PMID:28492532, PMID:10585769 RGD:734831 NCBI chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494
JBrowse link
cataract 11 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx3 paired-like homeodomain 3 ISO ClinVar Annotator: match by term: CATARACT 11, MULTIPLE TYPES
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract 11, posterior polar
OMIM
ClinVar
CTD
PMID:6801987, PMID:9620774, PMID:10361984, PMID:15286169, PMID:16565358, PMID:18989383 NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
JBrowse link
cataract 12 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bfsp2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Cataract 12, multiple types
ClinVar Annotator: match by OMIM:611597
OMIM
ClinVar
PMID:10729115, PMID:25741868, PMID:28492532 NCBI chr 8:111,908,614...111,965,889
Ensembl chr 8:111,908,614...111,965,889
JBrowse link
cataract 13 with adult i phenotype term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcnt2 glucosaminyl (N-acetyl) transferase 2 (I blood group) ISO ClinVar Annotator: match by term: Cataract 13 with adult i phenotype
ClinVar Annotator: match by term: Adult i Blood Group with or without Congenital Cataract
ClinVar Annotator: match by term: Adult i blood group with or without congenital cataract
ClinVar Annotator: match by term: Adult I blood group with or without congenital cataract
OMIM
ClinVar
PMID:11739194, PMID:12424189, PMID:22935719, PMID:25457163, PMID:25741868, PMID:28492532 NCBI chr17:21,634,546...21,677,477
Ensembl chr17:21,634,551...21,739,408
JBrowse link
cataract 14 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin, lambda 1 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,543,727...37,663,586
Ensembl chr15:37,543,727...37,663,584
JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,813,115...37,830,932
Ensembl chr15:37,813,115...37,831,031
JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3
ClinVar Annotator: match by OMIM:601885
OMIM
ClinVar
PMID:10205266, PMID:10746562, PMID:15208569, PMID:15286166, PMID:15448617, PMID:16204255, PMID:19182255, PMID:20431721, PMID:21552498, PMID:21681855, PMID:21897748, PMID:22312188, PMID:22550389, PMID:22876138, PMID:23734083, PMID:24772942, PMID:25741868, PMID:26694549, PMID:27275416, PMID:27609163, PMID:28492532, PMID:28877251, PMID:29321356 NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924
JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,790,211...37,807,653
Ensembl chr15:37,790,141...37,807,660
JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,835,580...37,926,715
Ensembl chr15:37,835,580...37,926,715
JBrowse link
cataract 15 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mip major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: Cataract 15, multiple types OMIM
ClinVar
PMID:3456204, PMID:10802646, PMID:10937580, PMID:16564824, PMID:18501347, PMID:20361015, PMID:21921980, PMID:24405844, PMID:25741868, PMID:27456987, PMID:28492532 NCBI chr 7:2,635,743...2,642,995
Ensembl chr 7:2,635,743...2,642,848
JBrowse link
cataract 16 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Cataract 16, multiple types
ClinVar Annotator: match by OMIM:613763
OMIM
ClinVar
PMID:1560021, PMID:11013455, PMID:11577372, PMID:16483541, PMID:16505043, PMID:16793013, PMID:16877416, PMID:17116488, PMID:19461931, PMID:20171888, PMID:21920752, PMID:22106715, PMID:22995991, PMID:23194663, PMID:23299917, PMID:24033266, PMID:25208129, PMID:25741868, PMID:26265630, PMID:26467025, PMID:26694549, PMID:26961874, PMID:28492532, PMID:28690483, PMID:28798025 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
JBrowse link
cataract 17 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba4 crystallin, beta A4 ISO ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 3 ClinVar PMID:17460281, PMID:20565250, PMID:25741868, PMID:28492532 NCBI chr12:50,407,843...50,414,434
Ensembl chr12:50,407,843...50,414,432
JBrowse link
G Crybb1 crystallin, beta B1 ISO ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 3
ClinVar Annotator: match by OMIM:611544
OMIM
ClinVar
PMID:12360425, PMID:16110300, PMID:17460281, PMID:20565250, PMID:21972112, PMID:25741868, PMID:28492532 NCBI chr12:50,390,939...50,404,550
Ensembl chr12:50,390,940...50,404,550
JBrowse link
cataract 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Cataract 18
ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 2
ClinVar Annotator: match by OMIM:610019
OMIM
ClinVar
PMID:11519376, PMID:21636066, PMID:25741868, PMID:28492532 NCBI chr 8:132,844,042...132,910,905
Ensembl chr 8:132,844,043...132,911,193
JBrowse link
cataract 19 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lim2 lens intrinsic membrane protein 2 ISO ClinVar Annotator: match by term: Cataract 19, multiple types
ClinVar Annotator: match by OMIM:615277
OMIM
ClinVar
PMID:11917274, PMID:18596884, PMID:21386927, PMID:28450710, PMID:28492532 NCBI chr 1:98,495,082...98,501,248
Ensembl chr 1:98,495,082...98,501,249
JBrowse link
cataract 2 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygc crystallin, gamma C ISO ClinVar Annotator: match by term: Cataract 2, multiple types
ClinVar Annotator: match by term: Nuclear pulverulent cataract
ClinVar Annotator: match by term: Cataract, coppock-like
ClinVar Annotator: match by term: Cataract 2, coppock-like
ClinVar Annotator: match by OMIM:604307
OMIM
ClinVar
PMID:8004095, PMID:8190472, PMID:10521291, PMID:10914683, PMID:12011157, PMID:12601044, PMID:17679936, PMID:19204787, PMID:22052681, PMID:22876111, PMID:24281366, PMID:25741868, PMID:26694549, PMID:27307692, PMID:27535533, PMID:28298635, PMID:28492532 NCBI chr 9:71,786,246...71,788,281
Ensembl chr 9:71,786,248...71,788,281
JBrowse link
G Crygd crystallin, gamma D ISS OMIM:604307 MouseDO NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323
JBrowse link
cataract 20 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygs crystallin, gamma S ISO ClinVar Annotator: match by term: Cataract 20 multiple types OMIM
ClinVar
PMID:16141006, PMID:18587492, PMID:19262743, PMID:28492532 NCBI chr11:81,796,891...81,802,172
Ensembl chr11:81,796,891...81,802,172
JBrowse link
cataract 21 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dynlrb2 dynein light chain roadblock-type 2 ISO ClinVar Annotator: match by term: Cataract 21, multiple types ClinVar PMID:28492532 NCBI chr19:49,016,919...49,028,400
Ensembl chr19:49,016,891...49,028,404
JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Cataract 21, multiple types
ClinVar Annotator: match by OMIM:610202
OMIM
ClinVar
PMID:11772997, PMID:12620964, PMID:16470690, PMID:17982426, PMID:22345400, PMID:24664492, PMID:24968223, PMID:25741868, PMID:26694549, PMID:28492532 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Cataract 21, multiple types ClinVar PMID:28492532 NCBI chr19:46,761,353...47,695,247 JBrowse link
cataract 22 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crybb3 crystallin, beta B3 ISO ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 2
ClinVar Annotator: match by OMIM:609741
OMIM
ClinVar
PMID:15914629, PMID:19182255, PMID:23508780, PMID:24940039, PMID:25741868, PMID:26694549, PMID:27307692, PMID:28492532 NCBI chr12:49,564,991...49,571,008
Ensembl chr12:49,565,992...49,571,006
JBrowse link
cataract 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba4 crystallin, beta A4 ISO ClinVar Annotator: match by term: Cataract 23, multiple types OMIM
ClinVar
PMID:15452067, PMID:16960806, PMID:20577656, PMID:25741868, PMID:26694549, PMID:28492532 NCBI chr12:50,407,843...50,414,434
Ensembl chr12:50,407,843...50,414,432
JBrowse link
cataract 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja8 gap junction protein, alpha 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14627691 NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
JBrowse link
G Pax6 paired box 6 ISO associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human) RGD PMID:22393272 RGD:8552277 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
cataract 3 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crybb2 crystallin, beta B2 ISO ClinVar Annotator: match by term: Cataract 3, multiple types
ClinVar Annotator: match by term: CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
ClinVar Annotator: match by OMIM:601547
OMIM
ClinVar
PMID:2240043, PMID:8812489, PMID:9158139, PMID:10634616, PMID:11424921, PMID:17234267, PMID:24120835, PMID:24704203, PMID:25741868, PMID:28492532, PMID:29386872, PMID:30450742 NCBI chr12:49,577,580...49,588,555
Ensembl chr12:49,578,633...49,588,555
JBrowse link
cataract 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vim vimentin ISO ClinVar Annotator: match by term: Cataract 30
ClinVar Annotator: match by term: Cataract 30, multiple types
ClinVar Annotator: match by OMIM:116300
OMIM
ClinVar
PMID:19126778, PMID:25741868, PMID:26694549, PMID:28450710, PMID:28492532 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
JBrowse link
cataract 31 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp4b charged multivesicular body protein 4B ISO ClinVar Annotator: match by term: Cataract 31 multiple types
ClinVar Annotator: match by OMIM:605387
OMIM
ClinVar
PMID:10682967, PMID:17701905, PMID:28492532 NCBI chr 3:150,188,275...150,227,453
Ensembl chr 3:150,188,455...150,227,405
JBrowse link
cataract 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bfsp1 beaded filament structural protein 1 ISO ClinVar Annotator: match by term: Cataract 33, multiple types
ClinVar Annotator: match by term: Cataract, cortical, juvenile-onset
ClinVar Annotator: match by OMIM:611391
OMIM
ClinVar
PMID:17225135, PMID:24281366, PMID:24379646, PMID:28450710, PMID:28492532 NCBI chr 3:137,935,345...137,992,652
Ensembl chr 3:137,935,345...137,969,658
JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:12082175 RGD:734947 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
cataract 34 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Cataract 34, multiple types ClinVar
OMIM
PMID:17893665, PMID:27218149, PMID:28492532 NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
JBrowse link
cataract 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdrd7 tudor domain containing 7 ISO ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 4
ClinVar Annotator: match by OMIM:613887
OMIM
ClinVar
PMID:21436445, PMID:25741868, PMID:28418495, PMID:28492532 NCBI chr 5:61,557,909...61,631,719
Ensembl chr 5:61,564,864...61,631,710
JBrowse link
cataract 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 5
ClinVar Annotator: match by term: AGK-Related Disorders
OMIM
ClinVar
PMID:22277967, PMID:22284826, PMID:22415731, PMID:23266196, PMID:24088041, PMID:25208612, PMID:25741868, PMID:26633545, PMID:28492532, PMID:28868593 NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801
JBrowse link
G Dennd11 DENN domain containing 11 ISO ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 5 ClinVar NCBI chr 4:68,569,308...68,597,626
Ensembl chr 4:68,569,691...68,597,586
JBrowse link
cataract 39 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygb crystallin, gamma B ISO ClinVar Annotator: match by term: Cataract 39, multiple types
ClinVar Annotator: match by OMIM:615188
OMIM
ClinVar
PMID:23288985, PMID:28492532 NCBI chr 9:71,796,204...71,798,265
Ensembl chr 9:71,796,204...71,798,265
JBrowse link
cataract 4 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygd crystallin, gamma D ISO ClinVar Annotator: match by term: Cataract 4
ClinVar Annotator: match by term: CATARACT 4, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
ClinVar Annotator: match by OMIM:115700
OMIM
ClinVar
PMID:9927684, PMID:10521291, PMID:10688888, PMID:10915766, PMID:11371638, PMID:12011157, PMID:12676897, PMID:16446699, PMID:17564961, PMID:17724170, PMID:18587492, PMID:19382745, PMID:19390652, PMID:19668596, PMID:21827768, PMID:22995991, PMID:23508780, PMID:23936409, PMID:25403472, PMID:25741868, PMID:26694549, PMID:28450710, PMID:28474685, PMID:28492532 NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323
JBrowse link
cataract 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: CATARACT 40 WITH OR WITHOUT MICROCORNEA
ClinVar Annotator: match by OMIM:302200
OMIM
ClinVar
PMID:19414485, PMID:25741868 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link
cataract 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: CATARACT 41, CONGENITAL NUCLEAR TYPE
ClinVar Annotator: match by term: Cataract 41
ClinVar Annotator: match by OMIM:116400
OMIM
ClinVar
PMID:10679252, PMID:15605410, PMID:18544103, PMID:23531866, PMID:24033266, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26435059 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
cataract 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba2 crystallin, beta A2 ISO OMIM NCBI chr 9:82,151,056...82,154,266
Ensembl chr 9:82,151,057...82,154,266
JBrowse link
cataract 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc45b unc-45 myosin chaperone B ISO ClinVar Annotator: match by term: Cataract 43 ClinVar
OMIM
PMID:24549050 NCBI chr10:70,262,340...70,290,445
Ensembl chr10:70,262,361...70,290,445
JBrowse link
cataract 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Cataract 44 ClinVar
OMIM
PMID:26200341, PMID:29016354 NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497
JBrowse link
cataract 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sipa1l3 signal-induced proliferation-associated 1 like 3 ISO ClinVar Annotator: match by term: Cataract 45 ClinVar
OMIM
PMID:25804400 NCBI chr 1:87,260,832...87,467,846
Ensembl chr 1:87,260,835...87,468,288
JBrowse link
cataract 46 juvenile-onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Cataract Hutterite type OMIM
ClinVar
PMID:4061486, PMID:23806086, PMID:23863954, PMID:24088041, PMID:26788539, PMID:31061923 NCBI chr20:5,779,742...5,786,213
Ensembl chr20:6,545,083...6,556,350
JBrowse link
cataract 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a12 solute carrier family 16, member 12 ISO ClinVar Annotator: match by OMIM:612018 OMIM
ClinVar
PMID:17458810, PMID:18304496, PMID:21778275, PMID:26376857 NCBI chr 1:252,976,071...253,054,500
Ensembl chr 1:252,976,644...253,000,760
JBrowse link
cataract 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmbp dynamin binding protein ISO ClinVar Annotator: match by term: CATARACT 48 OMIM
ClinVar
PMID:25741868, PMID:30290152 NCBI chr 1:263,625,503...263,718,784
Ensembl chr 1:263,625,501...263,718,745
JBrowse link
cataract 5 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxl8 F-box and leucine-rich repeat protein 8 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar NCBI chr19:37,216,696...37,225,701
Ensembl chr19:37,221,132...37,226,065
JBrowse link
G Hsf4 heat shock transcription factor 4 ISO ClinVar Annotator: match by term: Cataract 5 multiple types
ClinVar Annotator: match by term: Lamellar cataract
ClinVar Annotator: match by term: Cataract, zonular
ClinVar Annotator: match by OMIM:116800
OMIM
ClinVar
PMID:3233780, PMID:12089525, PMID:15959809, PMID:18941546, PMID:20670914, PMID:24045990, PMID:24975927, PMID:25741868, PMID:28492532 NCBI chr19:37,225,800...37,232,048
Ensembl chr19:37,226,186...37,231,912
JBrowse link
cataract 6 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epha2 Eph receptor A2 ISO ClinVar Annotator: match by term: Cataract 6, multiple types
ClinVar Annotator: match by term: Age-related cortical cataract
ClinVar Annotator: match by OMIM:116600
OMIM
ClinVar
PMID:9002669, PMID:12167657, PMID:15965161, PMID:16051609, PMID:19005574, PMID:19306328, PMID:19649315, PMID:20360610, PMID:20625407, PMID:22570727, PMID:22645087, PMID:22829731, PMID:23447127, PMID:24014202, PMID:24705208, PMID:24968223, PMID:25741868, PMID:26900323, PMID:28492532 NCBI chr 5:159,845,773...159,874,203
Ensembl chr 5:159,845,774...159,874,206
JBrowse link
cataract 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crybb2 crystallin, beta B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158139 NCBI chr12:49,577,580...49,588,555
Ensembl chr12:49,578,633...49,588,555
JBrowse link
G Crygd crystallin, gamma D susceptibility ISO DNA:transversion:exon:p.P23T (human) RGD PMID:12676897 RGD:1601016 NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323
JBrowse link
cataract 9 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Cataract, autosomal dominant, multiple types, with microcornea
ClinVar Annotator: match by OMIM:604219
ClinVar Annotator: match by term: Cataract 9, autosomal recessive
OMIM
ClinVar
PMID:9467006, PMID:10684623, PMID:11006246, PMID:11123904, PMID:12601044, PMID:14512969, PMID:16564818, PMID:16735993, PMID:16862070, PMID:17296897, PMID:17724170, PMID:17937925, PMID:18085469, PMID:18302245, PMID:18587492, PMID:19182255, PMID:19503744, PMID:20079887, PMID:21042563, PMID:22045060, PMID:22140512, PMID:22216983, PMID:22347476, PMID:23255486, PMID:23379525, PMID:23508780, PMID:25018622, PMID:25694240, PMID:25741868, PMID:26542570, PMID:26694549, PMID:27307692, PMID:28179137, PMID:28492532 NCBI chr20:10,438,444...10,442,189
Ensembl chr20:10,438,444...10,442,187
JBrowse link
G Pitx3 paired-like homeodomain 3 ISO DNA:missense mutation, insertion:cds:p.S13N, G219fsX226 (human) RGD PMID:9620774 RGD:737764 NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
JBrowse link
Cataract Microcornea Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja8 gap junction protein, alpha 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract microcornea syndrome
CTD
ClinVar
PMID:9497259, PMID:10362609, PMID:10480374, PMID:11846744, PMID:12800976, PMID:14059288, PMID:14627691, PMID:16397066, PMID:16604058, PMID:17724170, PMID:18006672, PMID:18334946, PMID:18334966, PMID:18587493, PMID:19073179, PMID:21174522, PMID:21228318, PMID:23508780, PMID:23555834, PMID:24281366, PMID:24535056, PMID:25003127, PMID:25741868, PMID:26694549, PMID:28392901, PMID:28492532, PMID:29464339 NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
JBrowse link
G Maf MAF bZIP transcription factor ISO DNA:missense mutations: :p.R299S (c.895C>A), p.K320E (c.958A>G) (human) RGD PMID:19182255 RGD:13204740 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
Cataract, Autosomal Dominant Nuclear term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 ISO DNA:deletion:exon:c.279_281delGAG, p.G91del(human)
DNA:splice-site mutaion:intron: IVS3+2 T>G (human)
RGD PMID:21686330, PMID:22665976 RGD:10059633, RGD:10059638 NCBI chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494
JBrowse link
G Gja3 gap junction protein, alpha 3 ISO DNA:missense mutation:cds:p.N188T (human) RGD PMID:15448617 RGD:1578473 NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178
JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia OMIM
ClinVar
PMID:8409271, PMID:25130867, PMID:25741868, PMID:28328135, PMID:28492532, PMID:30041933, PMID:30419932 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906
JBrowse link
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:missense mutations:p.R616W, p.D681N (human)
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
ClinVar Annotator: match by OMIM:610756
ClinVar
OMIM
PMID:7585650, PMID:7920640, PMID:8571952, PMID:9101292, PMID:9238033, PMID:11156600, PMID:11443545, PMID:11710928, PMID:12820975, PMID:15494306, PMID:18470933, PMID:18603627, PMID:18628313, PMID:18637129, PMID:20944642, PMID:22826098, PMID:23221806, PMID:23232694, PMID:23800062, PMID:24033266, PMID:24252196, PMID:24448499, PMID:24728327, PMID:25620205, PMID:25716912, PMID:25741868, PMID:26556299, PMID:27004399, PMID:27745642, PMID:29478780, PMID:11443545 RGD:1601070 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4
ClinVar Annotator: match by OMIM:610758
OMIM
ClinVar
PMID:17273966, PMID:23623389, PMID:25741868, PMID:28492532 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:80,267,725...80,271,001
Ensembl chr 1:80,267,725...80,271,001
JBrowse link
Congenital Cataracts, Facial Dysmorphism, and Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctdp1 CTD phosphatase subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy
OMIM
CTD
ClinVar
PMID:14517542, PMID:15322984, PMID:16194727, PMID:25741868 NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
JBrowse link
Congenital Cataracts, Hearing Loss, and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Congenital cataracts, hearing loss, and neurodegeneration
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:15902551, PMID:22243965, PMID:22508683, PMID:31194315 NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919
JBrowse link
congenital muscular dystrophy with cataracts and intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5k inositol polyphosphate-5-phosphatase K ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY ClinVar
OMIM
PMID:28190456, PMID:28190459 NCBI chr10:63,775,639...63,796,879
Ensembl chr10:63,776,378...63,795,899
JBrowse link
cortical senile cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epha2 Eph receptor A2 ISO ClinVar Annotator: match by term: Cortical senile cataract ClinVar PMID:19649315, PMID:20625407, PMID:22645087, PMID:22829731, PMID:23447127, PMID:24705208 NCBI chr 5:159,845,773...159,874,203
Ensembl chr 5:159,845,774...159,874,206
JBrowse link
Crystalline Aculeiform Cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygd crystallin, gamma D ISO ClinVar Annotator: match by term: Aculeiform cataract ClinVar PMID:9927684, PMID:10688888, PMID:11371638, PMID:12011157, PMID:12676897, PMID:16446699, PMID:17724170, PMID:19382745, PMID:19390652, PMID:19668596, PMID:21827768, PMID:22995991, PMID:25403472, PMID:25741868, PMID:26694549, PMID:28450710, PMID:28474685, PMID:28492532 NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323
JBrowse link
diabetic cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsr glutathione-disulfide reductase ISO RGD PMID:12518238 RGD:10401829 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
EDICT Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir184 microRNA 184 ISO ClinVar Annotator: match by This custom term has been created by RGD curators. OMIM
ClinVar
PMID:11874753, PMID:14638698, PMID:21996275, PMID:22131394 NCBI chr 8:97,175,657...97,175,733
Ensembl chr 8:97,175,657...97,175,733
JBrowse link
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
ClinVar Annotator: match by OMIM:613730
OMIM
ClinVar
PMID:21109224, PMID:23255084, PMID:25741868, PMID:25741869, PMID:32860008 NCBI chr 8:28,147,110...28,208,466
Ensembl chr 8:28,147,111...28,208,466
JBrowse link
hereditary spastic paraplegia 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX
ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A
DNA:mutations:cds:p.V243L, p.R252Q(human)
ClinVar Annotator: match by OMIM:601162
OMIM
ClinVar
PMID:8779323, PMID:9973297, PMID:24913064, PMID:25741868, PMID:26026163, PMID:26297558, PMID:28492532, PMID:26297558 RGD:11056004 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
High Myopia with Cataract and Vitreoretinal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3h2 prolyl 3-hydroxylase 2 ISO ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration
ClinVar Annotator: match by OMIM:614292
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:21885030, PMID:24172257, PMID:25469533, PMID:25741868 NCBI chr11:78,028,885...78,169,746
Ensembl chr11:78,029,038...78,169,648
JBrowse link
hyperferritinemia-cataract syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO DNA:deletion:5' utr: (human)
ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts
ClinVar Annotator: match by term: Hyperferritinemia cataract syndrome
ClinVar Annotator: match by OMIM:600886
DNA:mutations:5'utr:
ClinVar
OMIM
PMID:2336358, PMID:7492760, PMID:7493028, PMID:7669675, PMID:8233801, PMID:8781450, PMID:9226182, PMID:9292547, PMID:9414300, PMID:9414313, PMID:9726965, PMID:10366790, PMID:10366804, PMID:10383191, PMID:10759702, PMID:11703332, PMID:11849230, PMID:12199804, PMID:12200611, PMID:14662596, PMID:15690351, PMID:16900584, PMID:17182944, PMID:18414213, PMID:19176363, PMID:19800271, PMID:21907119, PMID:22881709, PMID:23300176, PMID:23421845, PMID:24766965, PMID:25741868, PMID:26633542, PMID:27096259, PMID:28492532, PMID:9292547, PMID:22020773 RGD:1598966, RGD:5509864 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Hyperferritinemia cataract syndrome ClinVar PMID:17182944, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092
JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam126a family with sequence similarity 126, member A ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
ClinVar Annotator: match by OMIM:610532
OMIM
ClinVar
PMID:16951682, PMID:17928815, PMID:21911699, PMID:25741868, PMID:28492532 NCBI chr 4:7,661,710...7,770,179
Ensembl chr 4:7,661,558...7,770,232
JBrowse link
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gls glutaminase ISO ClinVar Annotator: match by term: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT OMIM
ClinVar
PMID:30239721 NCBI chr 9:54,212,622...54,284,879
Ensembl chr 9:54,212,767...54,284,872
JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by OMIM:212550
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15266624, PMID:23167593, PMID:24702266, PMID:25741868, PMID:26416026, PMID:28492532, PMID:28617965, PMID:29597095 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
JBrowse link
Isolated Microphthalmia with Cataract 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 3 ClinVar PMID:25741868 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
ClinVar Annotator: match by OMIM:117300
OMIM
ClinVar
PMID:5457846, PMID:10781099, PMID:25741868 NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
JBrowse link
Kahrizi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by OMIM:612713 OMIM
ClinVar
PMID:18781183, PMID:20700148 NCBI chr14:34,554,769...34,570,423
Ensembl chr14:34,556,220...34,570,356
JBrowse link
Lipodystrophy with Congenital Cataracts and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome OMIM
ClinVar
PMID:11739396, PMID:18237401, PMID:25356970, PMID:25898808 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
Marinesco-Sjogren syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sil1 SIL1 nucleotide exchange factor ISS
ISO
OMIM:248800
ClinVar Annotator: match by term: Marinesco-Sjögren syndrome
MouseDO
ClinVar
PMID:10665502, PMID:12692552, PMID:16282977, PMID:16282978, PMID:17026626, PMID:17309654, PMID:18285827, PMID:19471582, PMID:20111056, PMID:22995991, PMID:23062754, PMID:24176978, PMID:24631270, PMID:25741868, PMID:26467025, PMID:26733775, PMID:28492532 NCBI chr18:28,067,476...28,302,008
Ensembl chr18:28,067,484...28,301,863
JBrowse link
Marshall syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain susceptibility ISO DNA:SNP:splice junction:
ClinVar Annotator: match by term: Marshall syndrome
ClinVar Annotator: match by OMIM:154780
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9129742, PMID:9529347, PMID:9792885, PMID:10486316, PMID:13520885, PMID:17236192, PMID:19449424, PMID:21035103, PMID:21668896, PMID:25240749, PMID:25741868, PMID:26467025, PMID:28492532, PMID:32963807, PMID:9529347 RGD:1600881 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
Marshall/Stickler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174, PMID:10486316 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
Martsolf syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520, PMID:29300443 NCBI chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Cataract-intellectual disability-hypogonadism syndrome
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar Annotator: match by OMIM:212720
OMIM
ClinVar
PMID:16532399, PMID:18414213, PMID:23420520, PMID:24891604, PMID:25741868, PMID:28492532, PMID:29300443 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
JBrowse link
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna4 potassium voltage-gated channel subfamily A member 4 ISO ClinVar Annotator: match by term: MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM ClinVar
OMIM
PMID:23181898, PMID:27582084 NCBI chr 3:98,293,295...98,300,763
Ensembl chr 3:98,297,554...98,300,680
JBrowse link
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msmo1 methylsterol monooxygenase 1 ISO ClinVar Annotator: match by term: MICROCEPHALY, CONGENITAL CATARACTS, AND PSORIASIFORM DERMATITIS
ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis
ClinVar
OMIM
PMID:8663358, PMID:20929975, PMID:21285510, PMID:22935719, PMID:23622407, PMID:24144731, PMID:25148791, PMID:25896808 NCBI chr16:26,859,441...26,875,880
Ensembl chr16:26,859,397...26,875,973
JBrowse link
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl2 ADP-ribosylation factor like GTPase 2 ISO OMIM NCBI chr 1:221,504,150...221,516,191
Ensembl chr 1:221,504,170...221,516,110
JBrowse link
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO RGD PMID:20735985 RGD:12880033 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by null ClinVar PMID:11341888, PMID:17661825 NCBI chr 6:108,285,031...108,308,588
Ensembl chr 6:108,285,822...108,308,587
JBrowse link
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay OMIM
ClinVar
PMID:8627443, PMID:18414213, PMID:19409522, PMID:20593814, PMID:25269795, PMID:25326635, PMID:25741868, PMID:26018198, PMID:26757139, PMID:26944241, PMID:28155230, PMID:28812649 NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts ClinVar PMID:18813041, PMID:20301325, PMID:21878807, PMID:21918424, PMID:22473935, PMID:23329375, PMID:23394784, PMID:24055113, PMID:24195946, PMID:24433488, PMID:25637381, PMID:25735680, PMID:25741868, PMID:26332594, PMID:26467025, PMID:27058611, PMID:27147545, PMID:27153395, PMID:28492532 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
myofibrillar myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Alpha-B crystallinopathy
ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 2
ClinVar Annotator: match by OMIM:608810
OMIM
ClinVar
PMID:570292, PMID:8000975, PMID:9731540, PMID:11013455, PMID:12601044, PMID:12812987, PMID:14681890, PMID:16483541, PMID:21130652, PMID:21337604, PMID:21920752, PMID:24033266, PMID:25741868, PMID:26265630, PMID:26542570, PMID:27226619, PMID:28492532, PMID:28798025, PMID:32420686 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
JBrowse link
Nance-Horan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO DNA:snp, insertion, nonsense mutations:multiple (human)
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar Annotator: match by OMIM:302350
ClinVar
OMIM
PMID:458526, PMID:2246772, PMID:14564667, PMID:15623749, PMID:16736028, PMID:17256798, PMID:18018428, PMID:18949062, PMID:20882036, PMID:23757202, PMID:24968223, PMID:25266737, PMID:25741868, PMID:27148795, PMID:27159028, PMID:28492532, PMID:16736028 RGD:1598795 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ints1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES ClinVar
OMIM
PMID:28763441, PMID:30622326, PMID:31428919 NCBI chr12:16,950,704...16,974,896 JBrowse link
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination OMIM
ClinVar
PMID:24896178, PMID:25363768, PMID:25741868, PMID:28132692 NCBI chr19:25,783,686...25,801,526
Ensembl chr19:25,783,900...25,801,526
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gemin4 gem (nuclear organelle) associated protein 4 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES ClinVar
OMIM
PMID:25558065, PMID:25741868, PMID:27878435 NCBI chr10:64,364,808...64,375,885
Ensembl chr10:64,368,809...64,375,816
JBrowse link
O'Donnell Pappas Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT
ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract
ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies
ClinVar Annotator: match by OMIM:136520
OMIM
ClinVar
PMID:8640214, PMID:9727514, PMID:9931324, PMID:10441571, PMID:12868034, PMID:15086958, PMID:15629294, PMID:16407227, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
Oculoskeletodental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha ISO ClinVar Annotator: match by term: OCULOSKELETODENTAL SYNDROME OMIM
ClinVar
PMID:25741868, PMID:31034465 NCBI chr 1:185,210,922...185,326,314
Ensembl chr 1:185,210,922...185,326,314
JBrowse link
optic atrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic atrophy and cataract, autosomal dominant
ClinVar Annotator: match by OMIM:165300
OMIM
ClinVar
PMID:15342707, PMID:24136862, PMID:25159689, PMID:25205859, PMID:25741868, PMID:28081242, PMID:28492532 NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
JBrowse link
PHARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ClinVar Annotator: match by OMIM:612674
OMIM
ClinVar
PMID:20797687, PMID:23806086, PMID:24088041, PMID:24697911, PMID:25741868, PMID:26257172, PMID:26467025, PMID:28492532, PMID:29571850 NCBI chr 3:146,630,298...146,690,375
Ensembl chr 3:146,630,299...146,690,375
JBrowse link
posterior polar cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Posterior polar cataract ClinVar NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
JBrowse link
Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx3 paired-like homeodomain 3 ISO ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities
DNA:deletion:exon:c.650delG(human)
ClinVar PMID:15286169, PMID:16565358, PMID:16565358 RGD:11535073 NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
JBrowse link
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir204 microRNA 204 ISO ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract OMIM
ClinVar
PMID:26056285 NCBI chr 1:240,403,000...240,403,109
Ensembl chr 1:240,403,000...240,403,109
JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISO ClinVar Annotator: match by term: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT ClinVar PMID:26056285 NCBI chr 1:239,741,572...240,757,583
Ensembl chr 1:240,355,149...240,757,583
JBrowse link
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by OMIM:616108 OMIM
ClinVar
PMID:24916380 NCBI chr 6:102,356,498...102,372,618
Ensembl chr 6:102,356,492...102,372,611
JBrowse link
Sengers syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Sengers syndrome
ClinVar Annotator: match by term: Cataract and cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:212350
OMIM
ClinVar
CTD
PMID:3560758, PMID:15168109, PMID:22277967, PMID:22284826, PMID:22415731, PMID:23266196, PMID:24088041, PMID:25208612, PMID:25326635, PMID:25741868, PMID:26633545, PMID:28492532, PMID:28868593 NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801
JBrowse link
G Dennd11 DENN domain containing 11 ISO ClinVar Annotator: match by term: Cataract and cardiomyopathy ClinVar PMID:22277967, PMID:22284826, PMID:28492532 NCBI chr 4:68,569,308...68,597,626
Ensembl chr 4:68,569,691...68,597,586
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23266196 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
senile cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase treatment ISO protein:decreased activity:serum: RGD PMID:23781296, PMID:16129095 RGD:9068934, RGD:10003112 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO RGD PMID:21501079 RGD:10045354 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility
no_association
ISO DNA:missense mutation:cds:p.D312N (human)
DNA:missense mutation:cds:p.K751Q (human)
RGD PMID:24868140, PMID:21599457 RGD:10401084, RGD:10401083 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ghr growth hormone receptor ISO RGD PMID:16129095 RGD:10003112 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:16129095 RGD:10003112 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:12518238 RGD:10401829 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:22446016 RGD:14700972 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : RGD PMID:10892871 RGD:8547933 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:22446016 RGD:14700972 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B susceptibility ISO DNA:SNP: :1267A>G (human) RGD PMID:23666708 RGD:8662462 NCBI chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815
JBrowse link
G Mt2A metallothionein 2A ISO RGD PMID:9804143 RGD:10412648 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Nat2 N-acetyltransferase 2 ISO RGD PMID:16251120 RGD:8552653 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:missense mutation:cds:p.S326C (human) RGD PMID:24868140 RGD:10401084 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Sirt1 sirtuin 1 ISO RGD PMID:21501079 RGD:10045354 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Wrn WRN RecQ like helicase susceptibility
no_association
ISO DNA:missense mutation:cds:p.C1367R (rs1346044) (human) RGD PMID:23334603, PMID:20808731 RGD:10042984, RGD:10042985 NCBI chr16:62,483,773...62,619,018
Ensembl chr16:62,483,761...62,615,375
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation:cds:p.G399A (human) RGD PMID:21599457 RGD:10401083 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
JBrowse link
Spondyloocular Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Spondyloocular syndrome, autosomal recessive ClinVar PMID:16571645, PMID:25741868, PMID:26027496, PMID:26987875, PMID:28884924, PMID:29136277, PMID:30496831 NCBI chr10:82,386,003...82,399,485
Ensembl chr10:82,386,005...82,399,485
JBrowse link
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects ClinVar
OMIM
PMID:1714544, PMID:10766892, PMID:10980529, PMID:11477212, PMID:12325075, PMID:12752470, PMID:15180870, PMID:16949238, PMID:17052934, PMID:18577546, PMID:18606970, PMID:19798636, PMID:20129935, PMID:20221955, PMID:20417043, PMID:20687207, PMID:21069159, PMID:21135204, PMID:21555602, PMID:21791420, PMID:21832227, PMID:22492876, PMID:23280796, PMID:23306390, PMID:23340081, PMID:23443458, PMID:23448551, PMID:24963779, PMID:25108116, PMID:25326635, PMID:25487684, PMID:25564316, PMID:25741868, PMID:25982116, PMID:26193382, PMID:26216499, PMID:26304067, PMID:26336901, PMID:26537434, PMID:26598494, PMID:28116237, PMID:28492532 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
syndromic microphthalmia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Oculofaciocardiodental syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300166
OMIM
ClinVar
CTD
PMID:10069716, PMID:12116202, PMID:14608648, PMID:15004558, PMID:15770227, PMID:16829040, PMID:17517692, PMID:18414213, PMID:19367324, PMID:19578371, PMID:21740180, PMID:22005280, PMID:22486321, PMID:22983184, PMID:23557072, PMID:23815237, PMID:24728327, PMID:25326637, PMID:25337074, PMID:25620158, PMID:25741868, PMID:26196063, PMID:26539891, PMID:26694549, PMID:28317252, PMID:28492532, PMID:29058245 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
Vici syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epg5 ectopic P-granules autophagy protein 5 homolog ISO ClinVar Annotator: match by term: Vici syndrome
ClinVar Annotator: match by term: Absent corpus callosum cataract immunodeficiency
ClinVar Annotator: match by OMIM:242840
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3344762, PMID:10405446, PMID:21965116, PMID:23222957, PMID:23479740, PMID:23674064, PMID:24033266, PMID:25331754, PMID:25741868, PMID:26395118, PMID:26854214, PMID:26917586, PMID:27343256, PMID:27577878, PMID:28168853, PMID:28492532, PMID:28615637, PMID:28624465, PMID:29130391, PMID:32313153 NCBI chr18:74,299,965...74,397,115
Ensembl chr18:74,299,931...74,395,547
JBrowse link
Warburg micro syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO ClinVar Annotator: match by term: Warburg micro syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr17:59,844,781...59,876,170
Ensembl chr17:59,844,781...59,876,164
JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by OMIM:600118
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome
ClinVar
CTD
PMID:25741868, PMID:26467025 NCBI chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Warburg micro syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158
JBrowse link
G Zranb3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar NCBI chr13:44,661,375...44,812,430
Ensembl chr13:44,661,398...44,798,543
JBrowse link
Warburg micro syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Warburg micro syndrome 1 ClinVar
OMIM
PMID:8249951, PMID:8958326, PMID:10465117, PMID:15216543, PMID:15696165, PMID:17351351, PMID:18286824, PMID:18414213, PMID:20512159, PMID:20584031, PMID:23420520, PMID:25326635, PMID:25741868, PMID:26138576, PMID:26421802, PMID:26467025, PMID:26852512, PMID:28492532, PMID:29300443, PMID:31319225 NCBI chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620
JBrowse link
G Zranb3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome 1 ClinVar PMID:15696165, PMID:25741868, PMID:26138576, PMID:26467025, PMID:28492532, PMID:29300443 NCBI chr13:44,661,375...44,812,430
Ensembl chr13:44,661,398...44,798,543
JBrowse link
Warburg micro syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Warburg micro syndrome 2
ClinVar Annotator: match by OMIM:614225
OMIM
ClinVar
PMID:20967465, PMID:23420520, PMID:24033266, PMID:25741868, PMID:28492532, PMID:29300443 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
JBrowse link
Warburg micro syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO ClinVar Annotator: match by term: Warburg micro syndrome 3
ClinVar Annotator: match by OMIM:614222
OMIM
ClinVar
PMID:21473985, PMID:23420520, PMID:25741868, PMID:28492532, PMID:29300443 NCBI chr17:59,844,781...59,876,170
Ensembl chr17:59,844,781...59,876,164
JBrowse link
Warburg micro syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d20 TBC1 domain family, member 20 ISO ClinVar Annotator: match by term: Warburg micro syndrome 4
ClinVar Annotator: match by OMIM:615663
OMIM
ClinVar
PMID:24239381, PMID:25741868 NCBI chr 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158
JBrowse link
Zonular Cataract and Nystagmus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Zonular cataract and nystagmus ClinVar PMID:25741868 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        lens disease 222
          cataract 215
            3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 1
            Adams Nance Syndrome 0
            Alpha-B Crystallinopathy with Cataract 0
            Aniridia 1 7
            Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 0
            Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 0
            Ataxia-Microcephaly-Cataract Syndrome 0
            Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 0
            Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 0
            Ayme-Gripp syndrome 1
            Bassoe Syndrome 0
            Bhaskar Jagannathan Syndrome 0
            CAHMR Syndrome 0
            CAMFAK Syndrome 0
            CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
            Capsule Opacification 0
            Cataract Ataxia Deafness 0
            Cataract Microcornea Syndrome 2
            Cataract and Congenital Ichthyosis 0
            Cataract, Age-Related Nuclear 0
            Cataract, Autosomal Dominant Nuclear 2
            Cataract, Autosomal Recessive Congenital 1 0
            Cataract, Congenital Dominant Non Nuclear 0
            Cataract, Cortical Pulverulent, Late-Onset 0
            Cataract, Crystalline Coralliform 0
            Cataract, Floriform 0
            Cataract, Lamellar 2 0
            Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
            Cataract, Polymorphic and Lamellar 0
            Cataract, Posterior Polar, 5 0
            Cataract, Progressive Polymorphic Cortical 0
            Cataract, Pulverulent 0
            Cataract, Sutural, with Punctate and Cerulean Opacities 0
            Cataract, Variable Zonular Pulverulent 0
            Cataract, Zonular Central Nuclear 0
            Cataracts, Ataxia, Short Stature, and Mental Retardation 0
            Cerebrooculofacioskeletal Syndrome 2 1
            Cerebrooculofacioskeletal Syndrome 4 2
            Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 0
            Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 0
            Congenital Cataracts, Facial Dysmorphism, and Neuropathy 1
            Congenital Cataracts, Hearing Loss, and Neurodegeneration 1
            Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 0
            Cornea Guttata with Anterior Polar Cataract 0
            Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
            Crome Syndrome 0
            Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
            Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
            EDICT Syndrome 1
            Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 0
            Fine-Lubinsky Syndrome 0
            Flynn Aird Syndrome 0
            Goldstein Hutt Syndrome 0
            Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
            Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 1
            High Myopia with Cataract and Vitreoretinal Degeneration 1
            Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 0
            Hypertrophic Neuropathy and Cataract 0
            ITM2B-related cerebral amyloid angiopathy 2 1
            Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 1
            Isolated Microphthalmia with Cataract 1 0
            Isolated Microphthalmia with Cataract 2 1
            Isolated Microphthalmia with Cataract 3 1
            Isolated Microphthalmia with Cataract 4 0
            Kahrizi syndrome 1
            Karandikar Maria Kamble Syndrome 0
            Kozlowski Rafinski Klicharska Syndrome 0
            Krasnow Qazi Syndrome 0
            Leg, Absence Deformity of, with Congenital Cataract 0
            Lipodystrophy with Congenital Cataracts and Neurodegeneration 1
            Lubinsky Syndrome 0
            MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS 1
            Marinesco-Sjogren syndrome 1
            Marshall syndrome + 1
            Martsolf syndrome 2
            Microcephalic Primordial Dwarfism Toriello Type 0
            Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
            Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
            Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 0
            Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 1
            Microphthalmia, Cataracts, and Iris Abnormalities 2
            Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
            Mousa Al din Al Nassar Syndrome 0
            Myopathy, Cataract, Hypogonadism Syndrome 0
            NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES 1
            Nance-Horan syndrome 1
            Nathalie Syndrome 0
            Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
            O'Donnell Pappas Syndrome 2
            Oculoskeletodental Syndrome 1
            Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 0
            PHARC syndrome 1
            Pavone Fiumara Rizzo Syndrome 0
            Peters Anomaly with Cataract 0
            Polycystic Kidney, Cataract, and Congenital Blindness 0
            Premature Aging, Okamoto Type 0
            RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 2
            Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 1
            Schaap Taylor Baraitser Syndrome 0
            Seemanova Lesny Syndrome 0
            Sengers syndrome 3
            Seow Najjar Syndrome 0
            Singh Chhaparwal Dhanda Syndrome 0
            Slavotinek Pike Mills Hurst Syndrome 0
            Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 0
            Spondyloocular Syndrome, Autosomal Recessive 1
            Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 1
            Vici syndrome 1
            Warburg micro syndrome + 5
            Wellesley Carmen French Syndrome 0
            Zonular Cataract and Nystagmus 1
            cataract 1 multiple types 4
            cataract 10 multiple types 1
            cataract 11 multiple types + 1
            cataract 12 multiple types 1
            cataract 13 with adult i phenotype 1
            cataract 14 multiple types 8
            cataract 15 multiple types 1
            cataract 16 multiple types 1
            cataract 17 multiple types 2
            cataract 18 1
            cataract 19 multiple types 1
            cataract 2 multiple types 2
            cataract 20 multiple types 1
            cataract 21 multiple types 3
            cataract 22 multiple types 1
            cataract 23 1
            cataract 24 0
            cataract 25 0
            cataract 26 multiple types 0
            cataract 27 2
            cataract 28 0
            cataract 29 0
            cataract 3 multiple types 1
            cataract 30 1
            cataract 31 multiple types 1
            cataract 32 multiple types 0
            cataract 33 2
            cataract 34 multiple types 1
            cataract 35 0
            cataract 36 1
            cataract 37 0
            cataract 38 2
            cataract 39 multiple types 1
            cataract 4 multiple types + 1
            cataract 40 1
            cataract 41 1
            cataract 42 1
            cataract 43 1
            cataract 44 1
            cataract 45 1
            cataract 46 juvenile-onset 1
            cataract 47 1
            cataract 48 1
            cataract 5 multiple types 2
            cataract 6 multiple types 1
            cataract 7 2
            cataract 8 multiple types 0
            cataract 9 multiple types 2
            congenital muscular dystrophy with cataracts and intellectual disability 1
            diabetic cataract 1
            hereditary spastic paraplegia 9A 1
            hyperferritinemia-cataract syndrome 2
            hypomyelinating leukodystrophy 5 1
            myofibrillar myopathy 2 1
            myotonic cataract 0
            neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1
            optic atrophy 3 1
            palmoplantar keratoderma and congenital alopecia 2 0
            posterior polar cataract 1
            senile cataract + 17
            syndromic microphthalmia 2 1
            tetanic cataract 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            lens disease 222
              cataract 215
                3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 1
                Adams Nance Syndrome 0
                Alpha-B Crystallinopathy with Cataract 0
                Aniridia 1 7
                Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 0
                Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 0
                Ataxia-Microcephaly-Cataract Syndrome 0
                Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 0
                Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 0
                Ayme-Gripp syndrome 1
                Bassoe Syndrome 0
                Bhaskar Jagannathan Syndrome 0
                CAHMR Syndrome 0
                CAMFAK Syndrome 0
                CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
                Capsule Opacification 0
                Cataract Ataxia Deafness 0
                Cataract Microcornea Syndrome 2
                Cataract and Congenital Ichthyosis 0
                Cataract, Age-Related Nuclear 0
                Cataract, Autosomal Dominant Nuclear 2
                Cataract, Autosomal Recessive Congenital 1 0
                Cataract, Congenital Dominant Non Nuclear 0
                Cataract, Cortical Pulverulent, Late-Onset 0
                Cataract, Crystalline Coralliform 0
                Cataract, Floriform 0
                Cataract, Lamellar 2 0
                Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
                Cataract, Polymorphic and Lamellar 0
                Cataract, Posterior Polar, 5 0
                Cataract, Progressive Polymorphic Cortical 0
                Cataract, Pulverulent 0
                Cataract, Sutural, with Punctate and Cerulean Opacities 0
                Cataract, Variable Zonular Pulverulent 0
                Cataract, Zonular Central Nuclear 0
                Cataracts, Ataxia, Short Stature, and Mental Retardation 0
                Cerebrooculofacioskeletal Syndrome 2 1
                Cerebrooculofacioskeletal Syndrome 4 2
                Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 0
                Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 0
                Congenital Cataracts, Facial Dysmorphism, and Neuropathy 1
                Congenital Cataracts, Hearing Loss, and Neurodegeneration 1
                Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 0
                Cornea Guttata with Anterior Polar Cataract 0
                Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
                Crome Syndrome 0
                Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
                Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
                EDICT Syndrome 1
                Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 0
                Fine-Lubinsky Syndrome 0
                Flynn Aird Syndrome 0
                Goldstein Hutt Syndrome 0
                Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
                Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 1
                High Myopia with Cataract and Vitreoretinal Degeneration 1
                Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 0
                Hypertrophic Neuropathy and Cataract 0
                ITM2B-related cerebral amyloid angiopathy 2 1
                Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 1
                Isolated Microphthalmia with Cataract 1 0
                Isolated Microphthalmia with Cataract 2 1
                Isolated Microphthalmia with Cataract 3 1
                Isolated Microphthalmia with Cataract 4 0
                Kahrizi syndrome 1
                Karandikar Maria Kamble Syndrome 0
                Kozlowski Rafinski Klicharska Syndrome 0
                Krasnow Qazi Syndrome 0
                Leg, Absence Deformity of, with Congenital Cataract 0
                Lipodystrophy with Congenital Cataracts and Neurodegeneration 1
                Lubinsky Syndrome 0
                MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS 1
                Marinesco-Sjogren syndrome 1
                Marshall syndrome + 1
                Martsolf syndrome 2
                Microcephalic Primordial Dwarfism Toriello Type 0
                Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
                Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
                Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 0
                Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 1
                Microphthalmia, Cataracts, and Iris Abnormalities 2
                Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
                Mousa Al din Al Nassar Syndrome 0
                Myopathy, Cataract, Hypogonadism Syndrome 0
                NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES 1
                Nance-Horan syndrome 1
                Nathalie Syndrome 0
                Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
                O'Donnell Pappas Syndrome 2
                Oculoskeletodental Syndrome 1
                Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 0
                PHARC syndrome 1
                Pavone Fiumara Rizzo Syndrome 0
                Peters Anomaly with Cataract 0
                Polycystic Kidney, Cataract, and Congenital Blindness 0
                Premature Aging, Okamoto Type 0
                RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 2
                Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 1
                Schaap Taylor Baraitser Syndrome 0
                Seemanova Lesny Syndrome 0
                Sengers syndrome 3
                Seow Najjar Syndrome 0
                Singh Chhaparwal Dhanda Syndrome 0
                Slavotinek Pike Mills Hurst Syndrome 0
                Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 0
                Spondyloocular Syndrome, Autosomal Recessive 1
                Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 1
                Vici syndrome 1
                Warburg micro syndrome + 5
                Wellesley Carmen French Syndrome 0
                Zonular Cataract and Nystagmus 1
                cataract 1 multiple types 4
                cataract 10 multiple types 1
                cataract 11 multiple types + 1
                cataract 12 multiple types 1
                cataract 13 with adult i phenotype 1
                cataract 14 multiple types 8
                cataract 15 multiple types 1
                cataract 16 multiple types 1
                cataract 17 multiple types 2
                cataract 18 1
                cataract 19 multiple types 1
                cataract 2 multiple types 2
                cataract 20 multiple types 1
                cataract 21 multiple types 3
                cataract 22 multiple types 1
                cataract 23 1
                cataract 24 0
                cataract 25 0
                cataract 26 multiple types 0
                cataract 27 2
                cataract 28 0
                cataract 29 0
                cataract 3 multiple types 1
                cataract 30 1
                cataract 31 multiple types 1
                cataract 32 multiple types 0
                cataract 33 2
                cataract 34 multiple types 1
                cataract 35 0
                cataract 36 1
                cataract 37 0
                cataract 38 2
                cataract 39 multiple types 1
                cataract 4 multiple types + 1
                cataract 40 1
                cataract 41 1
                cataract 42 1
                cataract 43 1
                cataract 44 1
                cataract 45 1
                cataract 46 juvenile-onset 1
                cataract 47 1
                cataract 48 1
                cataract 5 multiple types 2
                cataract 6 multiple types 1
                cataract 7 2
                cataract 8 multiple types 0
                cataract 9 multiple types 2
                congenital muscular dystrophy with cataracts and intellectual disability 1
                diabetic cataract 1
                hereditary spastic paraplegia 9A 1
                hyperferritinemia-cataract syndrome 2
                hypomyelinating leukodystrophy 5 1
                myofibrillar myopathy 2 1
                myotonic cataract 0
                neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1
                optic atrophy 3 1
                palmoplantar keratoderma and congenital alopecia 2 0
                posterior polar cataract 1
                senile cataract + 17
                syndromic microphthalmia 2 1
                tetanic cataract 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.