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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;   cataracts;   lens opacities;   lens opacity;   membranous cataract;   membranous cataracts;   pseudoaphakia;   pseudoaphakias
 narrow_synonym: CONGENITAL NUCLEAR CATARACT;   CORTICAL PULVERULENT CATARACT;   congenital cataract
 primary_id: MESH:D002386
 xref: EFO:0001059;   ICD10CM:H26;   ICD9CM:366.8;   MONDO:0005129;   OMIM:PS116200
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

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 ACVR1 activin A receptor type 1 ISO RGD PMID:21504908 RGD:8547757 NCBI chr10:43,139,396...43,281,024
Ensembl chr10:43,139,528...43,281,177 		JBrowse link
G ADAM10 ADAM metallopeptidase domain 10 ISO mRNA:increased expression:retina RGD PMID:23941810 RGD:13703031 NCBI chr26:24,768,827...24,921,169
Ensembl chr26:24,768,915...24,919,009 		JBrowse link
G AGK acylglycerol kinase ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr21:110,302,439...110,404,733
Ensembl chr21:110,337,966...110,403,436 		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 9:88,773,493...88,823,438 JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28038895 NCBI chr16:18,302,145...18,312,768
Ensembl chr16:18,302,142...18,312,756 		JBrowse link
G ANXA1 annexin A1 ISO DNA, protein:polymorphism: :p.R212I (mouse) RGD PMID:1385581 PMID:19003866 RGD:7421556 RGD:7421566 NCBI chr12:84,207,818...84,226,438
Ensembl chr12:84,207,820...84,226,562 		JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16799786 NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520 		JBrowse link
G ATP2B1 ATPase plasma membrane Ca2+ transporting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15003327 NCBI chr11:84,985,957...85,053,923
Ensembl chr11:84,989,169...85,103,957 		JBrowse link
G B2M beta-2-microglobulin ISO associated with Diabetic Nephropathies RGD PMID:12567748 RGD:2311237 NCBI chr26:38,331,818...38,338,785
Ensembl chr26:38,331,442...38,338,809 		JBrowse link
G BCOR BCL6 corepressor ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:24728327 PMID:26694549 PMID:28492532 NCBI chr  X:37,191,242...37,319,966
Ensembl chr  X:37,192,874...37,319,782 		JBrowse link
G BFSP1 beaded filament structural protein 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 2:46,558,767...46,596,962 JBrowse link
G BFSP2 beaded filament structural protein 2 susceptibility ISO protein:missense mutation:exon:p.R287W (human)
ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract		 RGD
ClinVar		 PMID:10729115 PMID:25741868 RGD:1600516 NCBI chr15:56,854,537...56,920,987
Ensembl chr15:56,855,060...56,918,760 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO DNA:nonsense mutation RGD PMID:16964288 RGD:1599505 NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213 		JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:23508955 RGD:13782357 NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899 		JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:23508955 RGD:13782357 NCBI chr20:116,772,819...116,798,402
Ensembl chr20:116,772,155...116,798,930 		JBrowse link
G CAT catalase no_association
treatment		 ISO protein:decreased activity:erythrocyte:
protein:decreased activity:lens:		 RGD PMID:11408722 PMID:15295623 PMID:21635889 RGD:9068905 RGD:9068909 RGD:9068911 NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592 		JBrowse link
G CCK cholecystokinin ISO associated with Diabetes Mellitus, Experimental RGD PMID:16989746 RGD:2313636 NCBI chr22:3,698,192...3,705,443
Ensembl chr22:3,698,173...3,704,956 		JBrowse link
G CCL11 C-C motif chemokine ligand 11 ISO associated with Diabetes Mellitus, Type 1;protein:increased expression:serum RGD PMID:23049540 RGD:7248415 NCBI chr16:27,792,699...27,796,437
Ensembl chr16:27,794,033...27,796,460 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO in KO rat RGD PMID:12036912 PMID:17030811 PMID:30893315 RGD:126908018 RGD:2293616 RGD:619590 NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531 		JBrowse link
G CLOCK clock circadian regulator ISO RGD PMID:21149897 RGD:10401871 NCBI chr 7:13,015,198...13,134,741
Ensembl chr 7:13,051,454...13,127,240 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:12415512 PMID:16199547 PMID:19390655 PMID:25456301 PMID:28492532 NCBI chr 2:89,129,674...89,186,490 JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8317498 NCBI chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:17696175 PMID:20301768 PMID:25741868 NCBI chr 3:88,410,800...88,564,191
Ensembl chr 3:88,412,168...88,564,057 		JBrowse link
G COPB1 COPI coat complex subunit beta 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:33632302 NCBI chr 1:50,380,971...50,426,019
Ensembl chr 1:50,380,892...50,425,701 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... NCBI chr 1:103,258,715...103,263,274
Ensembl chr 1:103,257,347...103,261,990 		JBrowse link
G CRYBA1 crystallin beta A1 ISO associated with Diabetes Mellitus, Type 1;mRNA,protein:increased expression:lens:
DNA:splice-site mutation:intron:IVS3+1G>T(human)
DNA:splice-site mutation:intron:c.215+1G>A (human)
DNA:splice-site mutation:intron:IVS3+1G>A(human)		 RGD PMID:15721615 PMID:17931883 PMID:20142846 PMID:21850182 PMID:22919269 More... RGD:10059634 RGD:10059641 RGD:10059642 RGD:10059653 RGD:126925760 RGD:2303652 NCBI chr16:23,005,892...23,011,357
Ensembl chr16:23,003,874...23,011,206 		JBrowse link
G CRYBA4 crystallin beta A4 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:26694549 PMID:28272538 PMID:28492532 NCBI chr19:9,491,105...9,528,986 JBrowse link
G CRYBB1 crystallin beta B1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:26694549 PMID:28272538 NCBI chr19:9,500,341...9,517,178
Ensembl chr19:9,500,431...9,515,068 		JBrowse link
G CRYBB2 crystallin beta B2 susceptibility ISO congenital cerulean cataract type 2, OMIM:601547;DNA:nonsense mutation
ClinVar Annotator: match by term: Congenital cataract		 RGD
ClinVar		 PMID:2240043 PMID:8812489 PMID:9158139 PMID:10634616 PMID:11424921 More... RGD:1601011 NCBI chr19:8,318,486...8,331,632
Ensembl chr19:8,321,039...8,331,929 		JBrowse link
G CRYBB3 crystallin beta B3 ISO ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract | ClinVar Annotator: match by term: Congenital nuclear cataract ClinVar PMID:15914629 PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr19:8,298,700...8,306,669
Ensembl chr19:8,300,683...8,306,522 		JBrowse link
G CRYGC crystallin gamma C susceptibility ISO Coppock-like cataract, OMIM:604307;DNA:transversion:exon:225A>C
ClinVar Annotator: match by term: Congenital cataract		 RGD
ClinVar		 PMID:10521291 PMID:24281366 PMID:26694549 RGD:1601015 NCBI chr10:93,925,842...93,928,514
Ensembl chr10:93,925,908...93,927,583 		JBrowse link
G CRYGD crystallin gamma D ISO ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:12011157 PMID:12676897 PMID:17724170 PMID:21827768 PMID:25403472 More... NCBI chr10:93,919,234...93,922,120
Ensembl chr10:93,919,304...93,922,029 		JBrowse link
G CRYGS crystallin gamma S ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141006 NCBI chr15:2,887,133...2,889,566 JBrowse link
G CTH cystathionine gamma-lyase ISO RGD PMID:15683713 RGD:1600763 NCBI chr20:62,672,820...62,718,608
Ensembl chr20:62,690,906...62,718,980 		JBrowse link
G CUNH14orf39 chromosome unknown C14orf39 homolog ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr24:37,596,061...37,707,136
Ensembl chr24:37,626,089...37,676,361 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr21:56,865,498...56,888,196
Ensembl chr21:56,865,312...56,886,698 		JBrowse link
G DMD dystrophin disease_progression ISO RGD PMID:25489223 RGD:12879865 NCBI chr  X:29,543,003...32,218,011 JBrowse link
G DNASE2B deoxyribonuclease 2 beta ISO OMIM:601371 MouseDO NCBI chr20:48,939,012...48,955,940
Ensembl chr20:48,938,973...48,956,045 		JBrowse link
G EPHA2 EPH receptor A2 ISO ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:26694549 NCBI chr20:116,147,077...116,178,647
Ensembl chr20:116,147,040...116,178,644 		JBrowse link
G EPM2A EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr13:26,152,974...26,266,676
Ensembl chr13:26,153,319...26,264,568 		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 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073 		JBrowse link
G ERO1B endoplasmic reticulum oxidoreductase 1 beta ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:33867527 NCBI chr25:73,378,209...73,445,280
Ensembl chr25:73,381,153...73,445,251 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:9361030 PMID:15146463 PMID:18220287 PMID:24033266 PMID:24123792 More... NCBI chr 8:66,902,961...67,238,149
Ensembl chr 8:66,902,972...67,060,567 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:10533071 PMID:24033266 PMID:24740214 PMID:25203624 PMID:25741868 More... NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO RGD PMID:16440058 RGD:1626611 NCBI chr 8:7,272,580...7,306,859
Ensembl chr 8:7,271,509...7,306,760 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO mRNA:increased expression:lens, epithelial cell RGD PMID:19491954 RGD:8554856 NCBI chr 7:70,089,394...70,157,423 JBrowse link
G FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr22:7,388,796...7,466,463
Ensembl chr22:7,388,704...7,466,430 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:24886740 RGD:10449123 NCBI chr  X:128,768,028...128,788,366
Ensembl chr  X:128,770,268...128,786,961 		JBrowse link
G GALK1 galactokinase 1 ISO DNA:missense mutation, nonsense mutation:cds:p.V32M, p.E80X (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:7670469 RGD:1300192 NCBI chr16:45,919,316...45,926,423
Ensembl chr16:45,919,402...45,926,304 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO OMIM:601371 MouseDO NCBI chr17:19,012,994...19,060,617
Ensembl chr17:19,013,026...19,060,659 		JBrowse link
G GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr17:61,533,622...61,607,702
Ensembl chr17:61,533,314...61,642,659 		JBrowse link
G GEMIN4 gem nuclear organelle associated protein 4 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25558065 PMID:25741868 PMID:27878435 NCBI chr16:494,882...501,634
Ensembl chr16:490,523...501,594 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:15208569 PMID:16885921 PMID:19182255 PMID:22843197 PMID:25741868 More... NCBI chr 3:820,352...852,003
Ensembl chr 3:846,982...848,286 		JBrowse link
G GJA8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:18334946 PMID:21228318 PMID:23832966 PMID:25003127 PMID:25741868 More...
G GPX1 glutathione peroxidase 1 ISO RGD PMID:23194826 RGD:11353787 NCBI chr22:10,754,976...10,756,617 JBrowse link
G GSR glutathione-disulfide reductase treatment ISO protein:reduced_expression RGD PMID:947404 PMID:24530554 RGD:10401885 RGD:1600697 NCBI chr 8:28,778,713...28,851,907 JBrowse link
G HSF4 heat shock transcription factor 4 ISO ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 5:60,286,882...60,292,974
Ensembl chr 5:60,287,040...60,292,499 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:8409271 PMID:25130867 PMID:25741868 NCBI chr25:9,414,316...9,485,542
Ensembl chr25:9,414,711...9,485,429 		JBrowse link
G IFNG interferon gamma ISO RGD PMID:8188461 RGD:8157612 NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473 		JBrowse link
G IL18 interleukin 18 ISO associated with Diabetes Mellitus, Type 2;mRNA:increased expression:lens RGD PMID:18006521 PMID:21591858 RGD:8655879 RGD:8655881 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150 		JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr17:38,291,100...38,309,134
Ensembl chr17:38,291,217...38,307,745 		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		 RGD
ClinVar		 PMID:11917274 PMID:25741868 PMID:28492532 PMID:32202185 PMID:33078099 More... RGD:1600309 NCBI chr 6:44,298,667...44,306,302
Ensembl chr 6:44,298,958...44,306,117 		JBrowse link
G LOC103219825 protein patched homolog 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 susceptibility
no_association		 ISO DNA:deletion:cds (human) RGD PMID:7781744 PMID:8631631 RGD:7488949 RGD:7488950 NCBI chr20:23,854,969...23,861,634 JBrowse link
G LOC103226928 aldo-keto reductase family 1 member B1 susceptibility
treatment		 ISO CTD Direct Evidence: marker/mechanism
associated with Galactosemia
human gene in mouse model
associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.(AC)n (human)		 CTD
RGD		 PMID:17444799 PMID:18452283 PMID:21329682 PMID:21376710 PMID:24360973 More... RGD:1626083 RGD:8548638 RGD:8548671 RGD:8548672 NCBI chr21:103,060,018...103,076,844
Ensembl chr21:103,059,991...103,077,341 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 6:5,348,968...5,371,521
Ensembl chr 6:5,346,426...5,371,507 		JBrowse link
G LSS lanosterol synthase ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 2:89,809,065...89,846,295
Ensembl chr 2:89,811,698...89,846,242 		JBrowse link
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:26694549 NCBI chr 5:65,064,715...65,078,972 JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO RGD PMID:11222509 RGD:12801446 NCBI chr26:17,059,122...17,168,787
Ensembl chr26:17,060,054...17,168,782 		JBrowse link
G MIP major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:24120416 PMID:25741868 PMID:26694549 PMID:28492532 PMID:29770612 NCBI chr11:52,409,592...52,415,752
Ensembl chr11:52,410,325...52,413,933 		JBrowse link
G MMAA metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:92,180,963...92,218,068
Ensembl chr 7:92,201,805...92,220,163 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO RGD PMID:17062942 RGD:8693669 NCBI chr 1:94,216,156...94,224,437
Ensembl chr 1:94,216,173...94,224,264 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs, haplotype: : 677C>T, 1298A>C (human) RGD PMID:16310481 RGD:7387253 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G NDRG2 NDRG family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22043305 NCBI chr29:21,490,219...21,499,194
Ensembl chr29:21,488,808...21,496,757 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr10:86,723,212...86,735,837
Ensembl chr10:86,723,253...86,735,980 		JBrowse link
G NECTIN3 nectin cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr22:69,597,729...69,719,397
Ensembl chr22:69,598,895...69,719,343 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 disease_progression ISO DNA:snps, haplotype:5' utr, intron:multiple (human) RGD PMID:20064547 RGD:6893326 NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339 		JBrowse link
G NHS NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549 NCBI chr  X:15,803,386...16,183,809
Ensembl chr  X:16,168,609...16,183,787 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO RGD PMID:12714641 RGD:4892118 NCBI chr23:45,904,926...46,031,804
Ensembl chr23:45,904,873...46,031,125 		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:104,784,900...104,834,718
Ensembl chr  X:104,785,526...104,837,243 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:SNP: :p.S326C (rs1052133)(human) RGD PMID:22306120 RGD:8657151 NCBI chr22:45,757,414...45,763,690 JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO OMIM:601371 MouseDO NCBI chr20:129,030,853...129,050,944
Ensembl chr20:129,030,904...129,050,636 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:26694549 PMID:29178648 NCBI chr 1:33,386,165...33,414,605
Ensembl chr 1:33,392,970...33,414,587 		JBrowse link
G PGRMC1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:33867527
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28166811 PMID:28492532 NCBI chr 7:58,501,669...58,526,413
Ensembl chr 7:58,501,559...58,507,318 		JBrowse link
G PITX3 paired like homeodomain 3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 9:95,266,257...95,278,333
Ensembl chr 9:95,266,582...95,268,139 		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 chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875 		JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 6:34,851,977...34,870,413
Ensembl chr 6:34,851,979...34,864,967 		JBrowse link
G PSMC3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:32500975 NCBI chr 1:17,881,844...17,896,942 JBrowse link
G PTEN phosphatase and tensin homolog ISO RGD PMID:24270425 RGD:12859033 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G PXDN peroxidasin ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr14:105,936,992...106,060,582
Ensembl chr14:105,937,198...106,060,584 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr25:9,293,791...9,411,950
Ensembl chr25:9,293,838...9,415,319 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:32581362 NCBI chr23:41,611,360...41,855,632
Ensembl chr23:41,609,484...41,855,663 		JBrowse link
G SIX6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr24:37,700,468...37,703,103
Ensembl chr24:37,700,513...37,705,814 		JBrowse link
G SLC16A12 solute carrier family 16 member 12 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:26694549 NCBI chr 9:82,817,476...82,917,004
Ensembl chr 9:82,818,994...82,916,837 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:12415512 PMID:25456301 PMID:28492532 NCBI chr 2:89,188,171...89,232,081
Ensembl chr 2:89,188,733...89,209,281 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:11222509 RGD:12801446 NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO associated with Diabetes Mellitus, Experimental RGD PMID:12882795 RGD:2313618 NCBI chr11:8,004,861...8,023,023 JBrowse link
G SLC33A1 solute carrier family 33 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr15:34,907,146...34,932,928
Ensembl chr15:34,907,091...34,931,262 		JBrowse link
G SLC4A4 solute carrier family 4 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr 7:19,581,399...20,043,334 JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:22407349 RGD:8693684 NCBI chr20:105,613,289...105,670,868
Ensembl chr20:105,613,338...105,674,208 		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:16254550 PMID:19324844 PMID:21921984 PMID:23970468 RGD:1581192 RGD:2312362 RGD:8655570 RGD:8655573 NCBI chr 2:60,461,219...60,472,999 JBrowse link
G SORD sorbitol dehydrogenase ISO OMIM:601371 MouseDO NCBI chr26:38,129,236...38,173,867
Ensembl chr26:38,126,911...38,155,381 		JBrowse link
G TALDO1 transaldolase 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:553,475...569,935
Ensembl chr 1:553,458...573,546 		JBrowse link
G TDRD7 tudor domain containing 7 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr12:41,903,454...41,984,534
Ensembl chr12:41,903,448...41,984,442 		JBrowse link
G TP53 tumor protein p53 ISO RGD PMID:21504908 RGD:8547757 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G TRPM3 transient receptor potential cation channel subfamily M member 3 ISO OMIM:601371 MouseDO NCBI chr12:81,608,301...82,616,349
Ensembl chr12:81,609,229...81,925,984 		JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532
G VIM vimentin ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549 NCBI chr 9:17,183,466...17,191,771
Ensembl chr 9:17,183,388...17,191,829 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B ISO OMIM:601371 MouseDO NCBI chr 8:93,899,666...94,737,123
Ensembl chr 8:93,901,284...94,735,262 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein onset ISO ClinVar Annotator: match by term: Congenital cataract RGD
ClinVar		 PMID:25741868 PMID:28860598 RGD:149735331 NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		JBrowse link
G XDH xanthine dehydrogenase treatment ISO ClinVar Annotator: match by term: Cataract RGD
ClinVar		 PMID:25741868 PMID:25860848 PMID:28492532 PMID:30755392 RGD:13208958 NCBI chr14:76,084,693...76,162,840
Ensembl chr14:76,085,368...76,163,936 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO associated with Radiation Injuries RGD PMID:18334943 RGD:10401127 NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094 		JBrowse link
3-methylglutaconic aciduria type 7a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 NCBI chr 1:63,520,305...63,667,237
Ensembl chr 1:63,515,814...63,667,105 		JBrowse link
3-methylglutaconic aciduria type 7b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,313,971...63,317,170
Ensembl chr 1:63,314,274...63,315,664 		JBrowse link
G ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,923,241...63,991,221
Ensembl chr 1:63,920,076...63,960,771 		JBrowse link
G ARHGEF17 Rho guanine nucleotide exchange factor 17 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,553,134...64,613,573
Ensembl chr 1:64,552,842...64,616,112 		JBrowse link
G ARRB1 arrestin beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,489,358...66,580,167
Ensembl chr 1:66,490,102...66,580,154 		JBrowse link
G ATG16L2 autophagy related 16 like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,051,793...64,066,204
Ensembl chr 1:64,052,390...64,065,972 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,282,311...65,436,007
Ensembl chr 1:65,282,318...65,435,834 		JBrowse link
G CHRDL2 chordin like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,939,361...65,973,987
Ensembl chr 1:65,939,446...65,973,492 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 More... NCBI chr 1:63,520,305...63,667,237
Ensembl chr 1:63,515,814...63,667,105 		JBrowse link
G COA4 cytochrome c oxidase assembly factor 4 homolog, mitochondrial ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,134,169...65,138,262
Ensembl chr 1:65,134,169...65,138,205 		JBrowse link
G DEFB108B defensin beta 108B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532
G DHCR7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:3,243,263...3,257,332
Ensembl chr 1:3,243,313...3,257,487 		JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,211,142...65,233,948
Ensembl chr 1:65,217,224...65,235,556 		JBrowse link
G FAM168A family with sequence similarity 168 member A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,650,781...64,844,078
Ensembl chr 1:64,647,177...64,844,097 		JBrowse link
G FCHSD2 FCH and double SH3 domains 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,073,563...64,383,695
Ensembl chr 1:64,075,109...64,383,589 		JBrowse link
G FOLR1 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,405,513...63,413,372
Ensembl chr 1:63,406,597...63,413,352 		JBrowse link
G FOLR2 folate receptor beta ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,436,430...63,441,924
Ensembl chr 1:63,436,684...63,441,743 		JBrowse link
G GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,665,496...66,755,712
Ensembl chr 1:66,664,914...66,755,692 		JBrowse link
G IL18BP interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,199,412...63,204,615
Ensembl chr 1:63,200,284...63,203,934 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,443,819...63,459,067
Ensembl chr 1:63,444,713...63,459,776 		JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,699,558...65,710,305
Ensembl chr 1:65,700,156...65,700,467 		JBrowse link
G KLHL35 kelch like family member 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,652,934...66,665,406 JBrowse link
G LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,301,354...63,307,716
Ensembl chr 1:63,301,885...63,307,553 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,731,258...65,733,803
Ensembl chr 1:65,731,969...65,733,563 		JBrowse link
G MRPL48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,045,885...65,124,962
Ensembl chr 1:65,046,224...65,126,253 		JBrowse link
G NADSYN1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:3,189,054...3,243,087
Ensembl chr 1:3,188,348...3,238,435 		JBrowse link
G NEU3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,220,472...66,243,163 JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,204,968...63,284,673
Ensembl chr 1:63,202,913...63,273,774 		JBrowse link
G P2RY2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,461,929...64,481,429
Ensembl chr 1:64,479,642...64,480,775 		JBrowse link
G P2RY6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,508,959...64,543,302
Ensembl chr 1:64,541,221...64,542,207 		JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,528,378...65,566,430
Ensembl chr 1:65,528,357...65,566,358 		JBrowse link
G PAAF1 proteasomal ATPase associated factor 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,138,343...65,190,363
Ensembl chr 1:65,138,373...65,190,420 		JBrowse link
G PDE2A phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,812,877...63,912,602
Ensembl chr 1:63,812,840...63,880,492 		JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,589,923...65,643,434
Ensembl chr 1:65,590,355...65,643,386 		JBrowse link
G PHOX2A paired like homeobox 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,459,031...63,464,674
Ensembl chr 1:63,459,719...63,463,894 		JBrowse link
G PLEKHB1 pleckstrin homology domain containing B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,893,566...64,909,714
Ensembl chr 1:64,894,988...64,909,789 		JBrowse link
G POLD3 DNA polymerase delta 3, accessory subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,832,887...65,885,671 JBrowse link
G PPME1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,436,109...65,516,486
Ensembl chr 1:65,469,025...65,517,288 		JBrowse link
G RAB6A RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,923,071...65,020,279
Ensembl chr 1:64,922,496...65,020,207 		JBrowse link
G RELT RELT TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:64,620,843...64,641,180
Ensembl chr 1:64,633,421...64,640,019 		JBrowse link
G RNF121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,132,235...63,198,235
Ensembl chr 1:63,132,568...63,197,993 		JBrowse link
G RNF169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,990,538...66,080,163 JBrowse link
G RPS3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,629,895...66,636,462
Ensembl chr 1:66,629,954...66,635,344 		JBrowse link
G SERPINH1 serpin family H member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,787,978...66,798,930
Ensembl chr 1:66,788,240...66,799,072 		JBrowse link
G SLCO2B1 solute carrier organic anion transporter family member 2B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,375,924...66,430,804
Ensembl chr 1:66,376,299...66,433,055 		JBrowse link
G SPCS2 signal peptidase complex subunit 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,180,863...66,210,315
Ensembl chr 1:66,180,898...66,210,316 		JBrowse link
G STARD10 StAR related lipid transfer domain containing 10 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:63,993,578...64,032,849
Ensembl chr 1:63,991,312...64,020,610 		JBrowse link
G TPBGL trophoblast glycoprotein like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,463,987...66,467,860
Ensembl chr 1:66,465,198...66,466,349 		JBrowse link
G UCP2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,238,311...65,246,841
Ensembl chr 1:65,235,775...65,246,450 		JBrowse link
G UCP3 uncoupling protein 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:65,269,611...65,279,079
Ensembl chr 1:65,269,607...65,278,807 		JBrowse link
G XRRA1 X-ray radiation resistance associated 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:66,080,378...66,191,449
Ensembl chr 1:66,080,949...66,170,416 		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 ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia ClinVar PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597511 PMID:25741868 More... NCBI chr 1:63,520,305...63,667,237
Ensembl chr 1:63,515,814...63,667,105 		JBrowse link
aniridia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCDC1 doublecortin domain containing 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 1:33,812,925...34,311,269 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:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 1:33,755,285...33,812,904
Ensembl chr 1:33,756,137...33,813,364 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:8364574 PMID:10234503 PMID:10737978 PMID:11284764 PMID:11309364 More... NCBI chr 1:33,419,313...33,679,046
Ensembl chr 1:33,421,038...33,678,990 		JBrowse link
G IMMP1L inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 1:33,679,133...33,757,924
Ensembl chr 1:33,710,582...33,756,884 		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:1345175 PMID:1684738 PMID:1954207 More... NCBI chr 1:33,386,165...33,414,605
Ensembl chr 1:33,392,970...33,414,587 		JBrowse link
G RCN1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 1:33,101,034...33,115,324 JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 1:32,750,300...32,801,832 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: Ayme-Gripp syndrome | ClinVar Annotator: match by term: Ayme-gripp syndrome OMIM
ClinVar		 PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 More... NCBI chr 5:65,064,715...65,078,972 JBrowse link
Baralle-Macken Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COPB1 COPI coat complex subunit beta 1 ISO ClinVar Annotator: match by term: Baralle-Macken syndrome OMIM
ClinVar		 PMID:25741868 PMID:33632302 NCBI chr 1:50,380,971...50,426,019
Ensembl chr 1:50,380,892...50,425,701 		JBrowse link
cataract 1 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532
G BCL9 BCL9 transcription coactivator ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Zonular Pulverulent Cataract ClinVar NCBI chr 3:820,352...852,003
Ensembl chr 3:846,982...848,286 		JBrowse link
G GJA5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532
G GJA8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 1 multiple types | ClinVar Annotator: match by term: Zonular Pulverulent Cataract OMIM
ClinVar		 PMID:9497259 PMID:10362609 PMID:10480374 PMID:11846744 PMID:12800976 More...
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 10 multiple types OMIM
ClinVar		 PMID:9536098 PMID:9788845 PMID:11006214 PMID:14598164 PMID:14693780 More... NCBI chr16:23,005,892...23,011,357
Ensembl chr16:23,003,874...23,011,206 		JBrowse link
cataract 11 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Cataract 11 multiple types | ClinVar Annotator: match by term: Cataract 11, posterior polar | ClinVar Annotator: match by term: PITX3-related condition ClinVar PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:16565358 More... NCBI chr 9:95,281,953...95,416,050
Ensembl chr 9:95,281,954...95,416,086 		JBrowse link
G PITX3 paired like homeodomain 3 ISO ClinVar Annotator: match by term: Cataract 11 multiple types | ClinVar Annotator: match by term: Cataract 11, posterior polar | ClinVar Annotator: match by term: PITX3-related condition OMIM
ClinVar		 PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:16565358 More... NCBI chr 9:95,266,257...95,278,333
Ensembl chr 9:95,266,582...95,268,139 		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: BFSP2-related condition | ClinVar Annotator: match by term: Cataract 12 multiple types OMIM
ClinVar		 PMID:10729115 PMID:12573667 PMID:14638724 PMID:21836522 PMID:25741868 More... NCBI chr15:56,854,537...56,920,987
Ensembl chr15:56,855,060...56,918,760 		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 CUNH6orf52 chromosome unknown C6orf52 homolog ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:61,455,582...61,520,436
Ensembl chr17:61,456,515...61,472,516 		JBrowse link
G GCM2 glial cells missing transcription factor 2 ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:61,256,063...61,264,688
Ensembl chr17:61,256,611...61,264,390 		JBrowse link
G GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) ISO ClinVar Annotator: match by term: ADULT i BLOOD GROUP PHENOTYPE | ClinVar Annotator: match by term: Adult i blood group with or without congenital cataract | ClinVar Annotator: match by term: Blood group, I system | ClinVar Annotator: match by term: Cataract 13 with adult I phenotype OMIM
ClinVar		 PMID:9536098 PMID:11739194 PMID:12424189 PMID:12468428 PMID:15161861 More... NCBI chr17:61,533,622...61,607,702
Ensembl chr17:61,533,314...61,642,659 		JBrowse link
G LOC103222176 uncharacterized LOC103222176 ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:61,386,888...61,396,216 JBrowse link
G MAK male germ cell associated kinase ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:61,301,634...61,376,885 JBrowse link
G PAK1IP1 PAK1 interacting protein 1 ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:61,435,120...61,448,650
Ensembl chr17:61,434,774...61,448,906 		JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:61,750,757...61,769,041 JBrowse link
G TMEM14C transmembrane protein 14C ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr 2:61,419,719...61,420,199 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: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr 3:567,937...704,109
Ensembl chr 3:567,931...688,388 		JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr 3:352,063...418,220
Ensembl chr 3:352,114...395,586 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Cataract 14 multiple types | ClinVar Annotator: match by term: Zonular pulverulent cataract 3 OMIM
ClinVar		 PMID:10205266 PMID:10746562 PMID:15208569 PMID:15286166 PMID:15448617 More... NCBI chr 3:820,352...852,003
Ensembl chr 3:846,982...848,286 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr 3:775,410...783,770
Ensembl chr 3:782,251...783,036 		JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr 3:435,649...546,661
Ensembl chr 3:436,207...546,583 		JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr 3:401,525...421,725 JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr 3:242,281...348,298
Ensembl chr 3:301,551...343,468 		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 | ClinVar Annotator: match by term: MIP-related condition OMIM
ClinVar		 PMID:3456204 PMID:9536098 PMID:10802646 PMID:10937580 PMID:16199547 More... NCBI chr11:52,409,592...52,415,752
Ensembl chr11:52,410,325...52,413,933 		JBrowse link
cataract 16 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Cataract 16 multiple types ClinVar PMID:25741868 PMID:28492532 NCBI chr17:83,473...205,366
Ensembl chr17:86,992...204,504 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: CATARACT, CONGENITAL LAMELLAR | ClinVar Annotator: match by term: Cataract 16 multiple types OMIM
ClinVar		 PMID:1560021 PMID:2299599 PMID:11013455 PMID:11577372 PMID:16483541 More... NCBI chr 1:103,258,715...103,263,274
Ensembl chr 1:103,257,347...103,261,990 		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 17 multiple types ClinVar PMID:9536098 PMID:12360425 PMID:16110300 PMID:17460281 PMID:17576681 More... NCBI chr19:9,491,105...9,528,986 JBrowse link
G CRYBB1 crystallin beta B1 ISO ClinVar Annotator: match by term: Cataract 17 multiple types OMIM
ClinVar		 PMID:9536098 PMID:12360425 PMID:16110300 PMID:17460281 PMID:17576681 More... NCBI chr19:9,500,341...9,517,178
Ensembl chr19:9,500,431...9,515,068 		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: FYCO1-related condition OMIM
ClinVar		 PMID:9536098 PMID:11519376 PMID:17576681 PMID:21636066 PMID:25741868 More... NCBI chr22:7,388,796...7,466,463
Ensembl chr22:7,388,704...7,466,430 		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 OMIM
ClinVar		 PMID:11917274 PMID:18596884 PMID:21386927 PMID:25741868 PMID:28492532 More... NCBI chr 6:44,298,667...44,306,302
Ensembl chr 6:44,298,958...44,306,117 		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: Cataract, Coppock-like | ClinVar Annotator: match by term: Nuclear pulverulent cataract OMIM
ClinVar		 PMID:8004095 PMID:8190472 PMID:10521291 PMID:10914683 PMID:12011157 More... NCBI chr10:93,925,842...93,928,514
Ensembl chr10:93,925,908...93,927,583 		JBrowse link
G LOC103217728 gamma-crystallin D ISO OMIM:604307 MouseDO NCBI chr10:93,903,173...93,908,652 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:9536098 PMID:16141006 PMID:17576681 PMID:18587492 PMID:19262743 More... NCBI chr15:2,887,133...2,889,566 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 chr 5:65,994,915...66,009,154
Ensembl chr 5:65,995,228...66,004,804 		JBrowse link
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 21 multiple types | ClinVar Annotator: match by term: Cataract, congenital, cerulean type, 4 OMIM
ClinVar		 PMID:11772997 PMID:12620964 PMID:16470690 PMID:17982426 PMID:22345400 More... NCBI chr 5:65,064,715...65,078,972 JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Cataract 21 multiple types ClinVar PMID:28492532 NCBI chr 5:63,580,049...64,698,212
Ensembl chr 5:63,580,741...63,916,157 		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 22 multiple types | ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 2 OMIM
ClinVar		 PMID:15914629 PMID:19182255 PMID:23508780 PMID:24940039 PMID:25640679 More... NCBI chr19:8,298,700...8,306,669
Ensembl chr19:8,300,683...8,306,522 		JBrowse link
cataract 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPHD2 aspartate beta-hydroxylase domain containing 2 ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr19:9,333,853...9,348,047
Ensembl chr19:9,338,159...9,352,093 		JBrowse link
G CRYBA4 crystallin beta A4 ISO ClinVar Annotator: match by term: Cataract 23 | ClinVar Annotator: match by term: Cataract 23, multiple types OMIM
ClinVar		 PMID:15452067 PMID:16199547 PMID:16960806 PMID:20577656 PMID:24968223 More... NCBI chr19:9,491,105...9,528,986 JBrowse link
G CRYBB1 crystallin beta B1 ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr19:9,500,341...9,517,178
Ensembl chr19:9,500,431...9,515,068 		JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr19:9,356,868...9,387,847
Ensembl chr19:9,356,145...9,386,254 		JBrowse link
G LOC103223082 unconventional myosin-XVIIIb ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr19:8,622,498...8,926,818
Ensembl chr19:8,650,438...8,927,494 		JBrowse link
G SEZ6L seizure related 6 homolog like ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr19:9,069,476...9,284,540
Ensembl chr19:9,069,746...9,284,543 		JBrowse link
G SRRD SRR1 domain containing ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr19:9,387,861...9,396,219
Ensembl chr19:9,387,648...9,395,955 		JBrowse link
G TFIP11 tuftelin interacting protein 11 ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr19:9,396,221...9,416,478
Ensembl chr19:9,396,298...9,416,476 		JBrowse link
G TPST2 tyrosylprotein sulfotransferase 2 ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr19:9,427,529...9,490,992
Ensembl chr19:9,426,162...9,446,863 		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
G PAX6 paired box 6 ISO associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human) RGD PMID:22393272 RGD:8552277 NCBI chr 1:33,386,165...33,414,605
Ensembl chr 1:33,392,970...33,414,587 		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, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 3 multiple types OMIM
ClinVar		 PMID:2240043 PMID:8812489 PMID:9158139 PMID:9536098 PMID:10634616 More... NCBI chr19:8,318,486...8,331,632
Ensembl chr19:8,321,039...8,331,929 		JBrowse link
G RAG1 recombination activating 1 ISO ClinVar Annotator: match by term: Cataract 3 multiple types ClinVar PMID:25741868 NCBI chr 1:28,667,996...28,701,002 JBrowse link
cataract 30 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, Coppock-like ClinVar PMID:24281366 PMID:26694549 NCBI chr10:93,925,842...93,928,514
Ensembl chr10:93,925,908...93,927,583 		JBrowse link
G VIM vimentin ISO ClinVar Annotator: match by term: CATARACT 30, PULVERULENT | ClinVar Annotator: match by term: Cataract 30 OMIM
ClinVar		 PMID:19126778 PMID:25741868 PMID:26694549 PMID:28450710 PMID:28492532 NCBI chr 9:17,183,466...17,191,771
Ensembl chr 9:17,183,388...17,191,829 		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 OMIM
ClinVar		 PMID:10682967 PMID:17701905 PMID:25741868 PMID:28492532 NCBI chr 2:38,093,909...38,139,932
Ensembl chr 2:38,093,829...38,140,367 		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 OMIM
ClinVar		 PMID:12454043 PMID:14638724 PMID:17225135 PMID:24281366 PMID:24379646 More... NCBI chr 2:46,558,767...46,596,962 JBrowse link
G ESR1 estrogen receptor 1 ISO RGD PMID:12082175 RGD:734947 NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549 		JBrowse link
G PCSK2 proprotein convertase subtilisin/kexin type 2 ISO ClinVar Annotator: match by term: Cataract 33 ClinVar PMID:28492532 NCBI chr 2:46,293,983...46,548,902
Ensembl chr 2:46,294,005...46,549,609 		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 susceptibility ISO ClinVar Annotator: match by term: CATARACT 34, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 34 multiple types ClinVar
OMIM		 PMID:17893665 PMID:19708017 PMID:20140963 PMID:24033266 PMID:25741868 More... NCBI chr20:85,502,938...85,505,158
Ensembl chr20:85,504,126...85,505,076 		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 36 | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 4 OMIM
ClinVar		 PMID:25741868 PMID:28418495 PMID:28492532 NCBI chr12:41,903,454...41,984,534
Ensembl chr12:41,903,448...41,984,442 		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: AGK-Related Disorders | ClinVar Annotator: match by term: CATARACT 38 | ClinVar Annotator: match by term: Cataract 38 | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 5 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22277967 PMID:22415731 PMID:24088041 More... NCBI chr21:110,302,439...110,404,733
Ensembl chr21:110,337,966...110,403,436 		JBrowse link
cataract 39 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103217733 gamma-crystallin B ISO ClinVar Annotator: match by term: Cataract 39 multiple types OMIM
ClinVar		 PMID:23288985 PMID:25741868 PMID:28492532 NCBI chr10:93,945,141...93,950,725 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 OMIM
ClinVar		 PMID:9927684 PMID:10521291 PMID:10688888 PMID:10915766 PMID:11371638 More... NCBI chr10:93,919,234...93,922,120
Ensembl chr10:93,919,304...93,922,029 		JBrowse link
G LOC103217728 gamma-crystallin D ISO OMIM:115700 MouseDO NCBI chr10:93,903,173...93,908,652 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 OMIM
ClinVar		 PMID:19414485 PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:15,803,386...16,183,809
Ensembl chr  X:16,168,609...16,183,787 		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 OMIM
ClinVar		 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		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 ClinVar Annotator: match by term: CRYBA2-related condition OMIM
ClinVar		 PMID:25741868 NCBI chr10:104,889,529...104,893,661
Ensembl chr10:104,889,592...104,892,485 		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 OMIM
ClinVar		 PMID:24549050 PMID:25741868 NCBI chr16:28,649,541...28,690,467 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 2:89,809,065...89,846,295
Ensembl chr 2:89,811,698...89,846,242 		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 OMIM
ClinVar		 PMID:25741868 PMID:25804400 PMID:28492532 NCBI chr 6:32,548,602...32,852,769
Ensembl chr 6:32,671,179...32,837,875 		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 46 juvenile-onset OMIM
ClinVar		 PMID:4061486 PMID:23806086 PMID:23863954 PMID:24088041 PMID:26788539 More... NCBI chr17:38,291,100...38,309,134
Ensembl chr17:38,291,217...38,307,745 		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 term: CATARACT, JUVENILE, WITH MICROCORNEA | ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria OMIM
ClinVar		 PMID:17458810 PMID:18304496 PMID:21778275 PMID:24281366 PMID:25741868 More... NCBI chr 9:82,817,476...82,917,004
Ensembl chr 9:82,818,994...82,916,837 		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 9:92,926,283...93,048,228
Ensembl chr 9:92,923,953...93,047,554 		JBrowse link
Cataract 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Cataract 49 OMIM
ClinVar		 PMID:25741868 PMID:30585370 NCBI chr20:129,030,853...129,050,944
Ensembl chr20:129,030,904...129,050,636 		JBrowse link
cataract 5 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:60,305,875...60,309,264
Ensembl chr 5:60,306,893...60,308,101 		JBrowse link
G BEAN1 brain expressed associated with NEDD4 1 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,121,684...52,182,820 JBrowse link
G CA7 carbonic anhydrase 7 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,541,008...52,551,307
Ensembl chr 5:52,541,527...52,551,389 		JBrowse link
G CBFB core-binding factor subunit beta ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:60,356,303...60,445,793
Ensembl chr 5:60,356,272...60,445,729 		JBrowse link
G CDH16 cadherin 16 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,607,436...52,618,645
Ensembl chr 5:52,607,396...52,618,310 		JBrowse link
G CDH5 cadherin 5 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,059,987...52,098,595
Ensembl chr 5:52,060,013...52,100,405 		JBrowse link
G CES4A carboxylesterase 4A ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:60,468,003...60,483,557 JBrowse link
G CIAO2B cytosolic iron-sulfur assembly component 2B ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,631,539...52,633,949
Ensembl chr 5:52,631,354...52,633,856 		JBrowse link
G CKLF chemokine like factor ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,244,853...52,272,231
Ensembl chr 5:52,244,909...52,258,567 		JBrowse link
G CMTM1 CKLF like MARVEL transmembrane domain containing 1 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532
G CMTM2 CKLF like MARVEL transmembrane domain containing 2 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,272,567...52,287,025
Ensembl chr 5:52,272,717...52,286,869 		JBrowse link
G CMTM3 CKLF like MARVEL transmembrane domain containing 3 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,302,606...52,312,277
Ensembl chr 5:52,303,288...52,311,165 		JBrowse link
G CMTM4 CKLF like MARVEL transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,313,253...52,393,715
Ensembl chr 5:52,320,532...52,393,532 		JBrowse link
G DYNC1LI2 dynein cytoplasmic 1 light intermediate chain 2 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,416,645...52,448,754
Ensembl chr 5:52,419,479...52,448,901 		JBrowse link
G FBXL8 F-box and leucine rich repeat protein 8 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:60,293,071...60,297,274
Ensembl chr 5:60,293,428...60,295,452 		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 OMIM
ClinVar		 PMID:3233780 PMID:9536098 PMID:12089525 PMID:15959809 PMID:16199547 More... NCBI chr 5:60,286,882...60,292,974
Ensembl chr 5:60,287,040...60,292,499 		JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,502,729...52,531,447
Ensembl chr 5:52,502,546...52,525,262 		JBrowse link
G NOL3 nucleolar protein 3 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:60,281,492...60,286,865 JBrowse link
G PDP2 pyruvate dehyrogenase phosphatase catalytic subunit 2 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,575,280...52,583,614
Ensembl chr 5:52,580,423...52,582,009 		JBrowse link
G PHAF1 phagosome assembly factor 1 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:60,308,832...60,346,599
Ensembl chr 5:60,306,538...60,345,714 		JBrowse link
G RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,620,846...52,626,799
Ensembl chr 5:52,621,231...52,624,436 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,451,929...52,502,628
Ensembl chr 5:52,452,079...52,500,948 		JBrowse link
G TK2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,202,040...52,272,428
Ensembl chr 5:52,204,605...52,243,017 		JBrowse link
G TRADD TNFRSF1A associated via death domain ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:60,296,777...60,303,076
Ensembl chr 5:60,297,375...60,303,579 		JBrowse link
Cataract 50 with or without Glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPM3 transient receptor potential cation channel subfamily M member 3 ISO ClinVar Annotator: match by term: Cataract 50 with or without glaucoma ClinVar
OMIM		 PMID:25090642 NCBI chr12:81,608,301...82,616,349
Ensembl chr12:81,609,229...81,925,984 		JBrowse link
cataract 6 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGEF19 Rho guanine nucleotide exchange factor 19 ISO ClinVar Annotator: match by term: Cataract 6 multiple types ClinVar PMID:19649315 PMID:22167091 PMID:25148791 PMID:28492532 NCBI chr20:116,088,130...116,107,499
Ensembl chr20:116,096,423...116,107,884 		JBrowse link
G EPHA2 EPH receptor A2 ISO ClinVar Annotator: match by term: Age-related cortical cataract | ClinVar Annotator: match by term: CATARACT, AGE-RELATED CORTICAL, 2 | ClinVar Annotator: match by term: Cataract 6 multiple types | ClinVar Annotator: match by term: Cataract, posterior polar, 1 OMIM
ClinVar		 PMID:9536098 PMID:12167657 PMID:15965161 PMID:16051609 PMID:16199547 More... NCBI chr20:116,147,077...116,178,647
Ensembl chr20:116,147,040...116,178,644 		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 chr19:8,318,486...8,331,632
Ensembl chr19:8,321,039...8,331,929 		JBrowse link
G CRYGD crystallin gamma D susceptibility ISO DNA:transversion:exon:p.P23T (human) RGD PMID:12676897 RGD:1601016 NCBI chr10:93,919,234...93,922,120
Ensembl chr10:93,919,304...93,922,029 		JBrowse link
cataract 9 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:86,098,818...86,176,101
Ensembl chr 2:86,099,414...86,179,949 		JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,780,954...88,915,672
Ensembl chr 2:88,833,707...88,918,066 		JBrowse link
G AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:87,622,839...87,735,552
Ensembl chr 2:87,654,097...87,730,785 		JBrowse link
G AIRE autoimmune regulator ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,019,122...88,031,998
Ensembl chr 2:88,019,522...88,031,801 		JBrowse link
G C2CD2 C2 calcium dependent domain containing 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:85,769,419...85,837,269
Ensembl chr 2:85,766,996...85,837,182 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,065,948...88,074,820
Ensembl chr 2:88,063,604...88,075,289 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:89,129,674...89,186,490 JBrowse link
G COL6A1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:89,608,525...89,649,823 JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:89,724,355...89,758,389
Ensembl chr 2:89,737,003...89,758,425 		JBrowse link
G CSTB cystatin B ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:87,551,341...87,555,145 JBrowse link
G CUNH21orf58 chromosome unknown C21orf58 homolog ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:89,916,904...89,934,889 JBrowse link
G DNMT3L DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:87,991,868...88,006,399
Ensembl chr 2:87,991,936...88,005,459 		JBrowse link
G GATD3 glutamine amidotransferase class 1 domain containing 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:87,884,102...87,902,413
Ensembl chr 2:87,884,118...87,904,379 		JBrowse link
G HSF2BP heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:87,262,882...87,434,217 JBrowse link
G ICOSLG inducible T cell costimulator ligand ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:87,974,651...87,986,867
Ensembl chr 2:87,973,786...87,986,639 		JBrowse link
G ITGB2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,597,554...88,644,890
Ensembl chr 2:88,597,556...88,624,025 		JBrowse link
G KRTAP12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,397,074...88,398,186 JBrowse link
G KRTAP12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,382,006...88,383,652 JBrowse link
G KRTAP12-3 keratin associated protein 12-3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,373,725...88,374,783
Ensembl chr 2:88,374,230...88,374,517 		JBrowse link
G LOC103219520 splicing factor U2AF 35 kDa subunit-like protein ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:86,949,910...86,964,655
Ensembl chr 2:86,950,056...86,964,579 		JBrowse link
G LOC103219558 serine/threonine-protein kinase SIK1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:87,204,386...87,217,044
Ensembl chr 2:87,204,357...87,216,180 		JBrowse link
G LOC103219922 keratin-associated protein 10-12 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,292,219...88,295,532 JBrowse link
G LOC103219967 thrombospondin-type laminin G domain and EAR repeat-containing protein ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,219,663...88,425,531
Ensembl chr 2:88,221,529...88,287,701 		JBrowse link
G LOC103220313 formimidoyltransferase-cyclodeaminase ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:89,761,600...89,778,572
Ensembl chr 2:89,761,248...89,782,238 		JBrowse link
G LOC103220344 spermatogenesis and centriole associated 1 like ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:89,781,950...89,805,927
Ensembl chr 2:89,782,182...89,803,593 		JBrowse link
G LOC103221104 cystathionine beta-synthase ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:86,905,104...86,933,780 JBrowse link
G LOC119619328 keratin-associated protein 12-4 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532
G LOC119619413 keratin-associated protein 10-3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532
G LRRC3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,176,282...88,179,587
Ensembl chr 2:88,177,399...88,178,172 		JBrowse link
G LSS lanosterol synthase ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:89,809,065...89,846,295
Ensembl chr 2:89,811,698...89,846,242 		JBrowse link
G MCM3AP minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:89,852,450...89,900,002
Ensembl chr 2:89,852,447...89,890,054 		JBrowse link
G NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:86,750,630...86,759,744
Ensembl chr 2:86,750,648...86,759,826 		JBrowse link
G PCBP3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:89,304,497...89,585,037 JBrowse link
G PCNT pericentrin ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:89,934,888...90,046,767
Ensembl chr 2:89,936,210...90,046,328 		JBrowse link
G PDE9A phosphodiesterase 9A ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:86,541,151...86,656,390
Ensembl chr 2:86,541,326...86,658,157 		JBrowse link
G PFKL phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,035,409...88,063,376
Ensembl chr 2:88,035,347...88,063,442 		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 9:95,266,257...95,278,333
Ensembl chr 9:95,266,582...95,268,139 		JBrowse link
G PKNOX1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:86,857,155...86,882,365
Ensembl chr 2:86,856,632...86,881,550 		JBrowse link
G POFUT2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,949,293...88,973,007 JBrowse link
G PRDM15 PR/SET domain 15 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:85,686,292...85,761,365
Ensembl chr 2:85,685,932...85,742,611 		JBrowse link
G PTTG1IP PTTG1 interacting protein ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,559,286...88,586,016
Ensembl chr 2:88,559,285...88,585,091 		JBrowse link
G PWP2 PWP2 small subunit processome component ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:87,858,003...87,881,072
Ensembl chr 2:87,858,029...87,881,102 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:85,627,307...85,654,079
Ensembl chr 2:85,627,073...85,653,927 		JBrowse link
G RRP1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:87,560,229...87,579,019 JBrowse link
G RRP1B ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:87,434,214...87,471,553
Ensembl chr 2:87,434,304...87,471,627 		JBrowse link
G RSPH1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:86,348,365...86,371,908
Ensembl chr 2:86,348,056...86,371,858 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:89,188,171...89,232,081
Ensembl chr 2:89,188,733...89,209,281 		JBrowse link
G SLC37A1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:86,375,198...86,457,028
Ensembl chr 2:86,390,936...86,457,096 		JBrowse link
G SLX9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,652,219...88,703,220
Ensembl chr 2:88,652,222...88,690,577 		JBrowse link
G SUMO3 small ubiquitin like modifier 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,516,906...88,529,098 JBrowse link
G TFF1 trefoil factor 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:86,239,101...86,244,491
Ensembl chr 2:86,239,105...86,243,795 		JBrowse link
G TFF2 trefoil factor 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:86,223,113...86,228,964 JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:86,248,792...86,273,715
Ensembl chr 2:86,245,507...86,272,196 		JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:87,760,813...87,856,630
Ensembl chr 2:87,761,479...87,857,418 		JBrowse link
G TRPM2 transient receptor potential cation channel subfamily M member 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,082,391...88,170,340
Ensembl chr 2:88,087,448...88,170,344 		JBrowse link
G UBASH3A ubiquitin associated and SH3 domain containing A ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:86,279,762...86,330,281
Ensembl chr 2:86,280,198...86,332,756 		JBrowse link
G UBE2G2 ubiquitin conjugating enzyme E2 G2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:88,481,221...88,512,998
Ensembl chr 2:88,483,204...88,498,067 		JBrowse link
G UMODL1 uromodulin like 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:85,894,102...86,023,577
Ensembl chr 2:85,959,746...86,019,950 		JBrowse link
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:86,715,939...86,745,972
Ensembl chr 2:86,716,922...86,745,547 		JBrowse link
G YBEY ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:89,905,119...89,910,307
Ensembl chr 2:89,905,127...89,909,324 		JBrowse link
G ZBTB21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr 2:85,871,708...85,894,964
Ensembl chr 2:85,875,805...85,879,005 		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 ClinVar Annotator: match by term: Cataract microcornea syndrome ClinVar PMID:18334946 PMID:19684000 PMID:21228318 PMID:21686328 PMID:23832966 More...
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 chr 5:65,064,715...65,078,972 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:splice-site mutaion:intron: IVS3+2 T>G (human) RGD PMID:22665976 RGD:10059638 NCBI chr16:23,005,892...23,011,357
Ensembl chr16:23,003,874...23,011,206 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO DNA:missense mutation:cds:p.N188T (human) RGD PMID:15448617 RGD:1578473 NCBI chr 3:820,352...852,003
Ensembl chr 3:846,982...848,286 		JBrowse link
Cataract, Congenital Dominant Non Nuclear 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: Autosomal dominant nonnuclear polymorphic congenital cataract ClinVar PMID:10521291 PMID:12011157 PMID:12676897 PMID:17724170 PMID:19390652 More... NCBI chr10:93,919,234...93,922,120
Ensembl chr10:93,919,304...93,922,029 		JBrowse link
Cataract, Lamellar 2 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, lamellar 2 ClinVar PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr19:9,491,105...9,528,986 JBrowse link
Cataract, Sutural, with Punctate and Cerulean Opacities 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, sutural, with punctate and cerulean opacities ClinVar PMID:2240043 PMID:8812489 PMID:9158139 PMID:10634616 PMID:11424921 More... NCBI chr19:8,318,486...8,331,632
Ensembl chr19:8,321,039...8,331,929 		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 More... NCBI chr25:9,414,316...9,485,542
Ensembl chr25:9,414,711...9,485,429 		JBrowse link
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 ClinVar
OMIM		 PMID:32554502 NCBI chr  X:129,015,883...129,029,741
Ensembl chr  X:129,016,046...129,030,001 		JBrowse link
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOP10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 ClinVar
OMIM		 PMID:32554502 NCBI chr26:48,563,535...48,566,409
Ensembl chr26:48,563,517...48,566,745 		JBrowse link
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAR1 fatty acyl-CoA reductase 1 ISO ClinVar Annotator: match by term: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY | ClinVar Annotator: match by term: FAR1-related neurodevelopmental disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33239752 NCBI chr 1:51,106,120...51,170,436
Ensembl chr 1:51,105,908...51,170,550 		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 ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 OMIM
ClinVar		 PMID:3341805 PMID:7585650 PMID:7825573 PMID:7920640 PMID:8571952 More... NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073 		JBrowse link
G KLC3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 ClinVar PMID:25741868 NCBI chr 6:38,794,013...38,804,294
Ensembl chr 6:38,798,727...38,804,829 		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 OMIM
ClinVar		 PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287 More... NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967 		JBrowse link
G POLR1G RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr 6:38,853,681...38,857,241
Ensembl chr 6:38,853,874...38,859,288 		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 ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy OMIM
ClinVar		 PMID:14517542 PMID:15322984 PMID:16194727 PMID:20301787 PMID:23408394 More... NCBI chr18:479,476...549,546
Ensembl chr18:478,543...544,258 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy ClinVar PMID:25741868 NCBI chr 3:820,352...852,003
Ensembl chr 3:846,982...848,286 		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: Huppke-Brendel syndrome OMIM
ClinVar		 PMID:15902551 PMID:22243965 PMID:22508683 PMID:25741868 PMID:27306358 More... NCBI chr15:34,907,146...34,932,928
Ensembl chr15:34,907,091...34,931,262 		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: Congenital muscular dystrophy with cataracts and intellectual disability OMIM
ClinVar		 PMID:25741868 PMID:28190456 PMID:28190459 PMID:28492532 PMID:33792664 NCBI chr16:1,171,059...1,192,241
Ensembl chr16:1,170,899...1,191,965 		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 More... NCBI chr20:116,147,077...116,178,647
Ensembl chr20:116,147,040...116,178,644 		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:10521291 PMID:10688888 PMID:10704279 PMID:11371638 More... NCBI chr10:93,919,234...93,922,120
Ensembl chr10:93,919,304...93,922,029 		JBrowse link
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMC3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Deafness, cataract, impaired intellectual development, and polyneuropathy OMIM
ClinVar		 PMID:32500975 NCBI chr 1:17,881,844...17,896,942 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 chr 8:28,778,713...28,851,907 JBrowse link
Familial Partial Lipodystrophy Type 7 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:18211975 PMID:18237401 PMID:25356970 PMID:25741868 More... NCBI chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627 		JBrowse link
Fine-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDLBP high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr10:127,289,390...127,378,895
Ensembl chr10:127,288,331...127,378,986 		JBrowse link
G LOC103246654 NADPH--cytochrome P450 reductase ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:22162478 PMID:25741868 NCBI chr28:10,145,070...10,230,836
Ensembl chr28:10,197,503...10,230,468 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 1:17,899,349...17,907,165
Ensembl chr 1:17,899,030...17,905,850 		JBrowse link
foveal hypoplasia 1 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 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome ClinVar PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 NCBI chr 1:33,419,313...33,679,046
Ensembl chr 1:33,421,038...33,678,990 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome OMIM
ClinVar		 PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 More... NCBI chr 1:33,386,165...33,414,605
Ensembl chr 1:33,392,970...33,414,587 		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 OMIM
ClinVar		 PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More... NCBI chr 1:125,136,963...125,211,424 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: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy | ClinVar Annotator: match by term: Cataracts, motor neuronopathy, short stature and skeletal abnormalities | ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX OMIM
ClinVar		 PMID:8779323 PMID:9643297 PMID:9973297 PMID:21739576 PMID:24913064 More... NCBI chr 9:88,773,493...88,823,438 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 term: P3H2-related condition OMIM
ClinVar		 PMID:21885030 PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 More... NCBI chr15:84,185,288...84,348,186
Ensembl chr15:84,185,299...84,348,011 		JBrowse link
hyperferritinemia-cataract syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTL ferritin light chain ISO ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts OMIM
ClinVar		 PMID:2336358 PMID:7492760 PMID:7493028 PMID:7669675 PMID:8233801 More... NCBI chr 6:42,196,682...42,198,575
Ensembl chr 6:42,196,538...42,199,614 		JBrowse link
G GYS1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 6:42,200,487...42,227,660
Ensembl chr 6:42,200,455...42,227,285 		JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:16446975 PMID:22995991 PMID:25741868 PMID:28492532 NCBI chr10:86,830,101...86,884,729
Ensembl chr10:86,830,589...86,871,200 		JBrowse link
G CDCA7L cell division cycle associated 7 like ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr21:36,304,723...36,349,801
Ensembl chr21:36,305,383...36,351,035 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr21:36,350,606...36,722,018
Ensembl chr21:36,350,707...36,720,511 		JBrowse link
G HYCC1 hyccin PI4KA lipid kinase complex subunit 1 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16951682 PMID:17576681 PMID:17683097 More... NCBI chr21:35,302,634...35,376,364
Ensembl chr21:35,302,687...35,372,055 		JBrowse link
G IL6 interleukin 6 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G RAPGEF5 Rap guanine nucleotide exchange factor 5 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr21:35,894,481...36,132,041
Ensembl chr21:35,940,360...36,133,715 		JBrowse link
G SP4 Sp4 transcription factor ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr21:36,748,554...36,832,879
Ensembl chr21:36,747,896...36,831,953 		JBrowse link
G TOMM7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr21:35,485,860...35,496,281
Ensembl chr21:35,485,685...35,497,325 		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:25741868 PMID:30239721 NCBI chr10:76,402,201...76,489,063
Ensembl chr10:76,402,195...76,486,498 		JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH14orf39 chromosome unknown C14orf39 homolog ISO ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr24:37,596,061...37,707,136
Ensembl chr24:37,626,089...37,676,361 		JBrowse link
G SIX6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr24:37,700,468...37,703,103
Ensembl chr24:37,700,513...37,705,814 		JBrowse link
Isolated Microphthalmia with Cataract 4 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: Microphthalmia, isolated, with cataract 4 ClinVar PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr19:9,491,105...9,528,986 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 OMIM
ClinVar		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr 3:26,149,429...26,178,172
Ensembl chr 3:26,149,379...26,177,622 		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 term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:18781183 PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 More... NCBI chr 7:13,193,601...13,218,115
Ensembl chr 7:13,190,412...13,217,768 		JBrowse link
Marinesco-Sjogren syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2A eukaryotic translation initiation factor 2A ISO ClinVar Annotator: match by term: Marinesco-Sjögren syndrome ClinVar PMID:25741868 NCBI chr15:40,112,926...40,146,629
Ensembl chr15:40,111,878...40,146,554 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Marinesco-Sjogren Syndrome | ClinVar Annotator: match by term: Marinesco-Sjogren-Garland Syndrome | ClinVar Annotator: match by term: Marinesco-Sjögren syndrome ClinVar PMID:9536098 PMID:10665502 PMID:12692552 PMID:16199547 PMID:16282977 More... NCBI chr23:41,611,360...41,855,632
Ensembl chr23:41,609,484...41,855,663 		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 ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome
DNA:SNP:splice junction:		 ClinVar
RGD
OMIM		 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 More... RGD:1600881 NCBI chr20:30,284,471...30,508,660
Ensembl chr20:30,284,447...30,508,658 		JBrowse link
G PCDH12 protocadherin 12 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr23:44,575,514...44,594,116
Ensembl chr23:44,577,005...44,590,074 		JBrowse link
G RNF14 ring finger protein 14 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr23:44,602,152...44,623,711
Ensembl chr23:44,602,783...44,623,912 		JBrowse link
G RNPC3 RNA binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 NCBI chr20:29,862,583...29,893,812
Ensembl chr20:29,866,073...29,893,431 		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 chr20:30,284,471...30,508,660
Ensembl chr20:30,284,447...30,508,658 		JBrowse link
Martsolf Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr25:9,489,479...9,518,936
Ensembl chr25:9,490,763...9,519,721 		JBrowse link
G CUNH1orf115 chromosome unknown C1orf115 homolog ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr25:8,844,455...8,853,459 JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr25:9,534,747...9,618,119
Ensembl chr25:9,534,114...9,618,141 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr25:9,414,316...9,485,542
Ensembl chr25:9,414,711...9,485,429 		JBrowse link
G LYPLAL1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr25:10,370,715...10,408,807
Ensembl chr25:10,370,814...10,408,767 		JBrowse link
G MARK1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr25:8,876,945...9,019,780
Ensembl chr25:8,879,201...9,019,598 		JBrowse link
G MTARC1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr25:8,654,316...8,744,579
Ensembl chr25:8,717,436...8,743,652 		JBrowse link
G MTARC2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr25:8,745,754...8,782,967
Ensembl chr25:8,748,605...8,782,379 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:29300443 NCBI chr10:19,295,294...19,401,595
Ensembl chr10:19,295,351...19,402,212 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Cataract mental retardation hypogonadism | ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:9536098 PMID:16199547 PMID:16532399 PMID:17576681 PMID:18414213 More... NCBI chr25:9,293,791...9,411,950
Ensembl chr25:9,293,838...9,415,319 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr25:9,654,846...9,671,247
Ensembl chr25:9,655,129...9,668,280 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr25:11,163,651...11,259,868
Ensembl chr25:11,163,100...11,258,470 		JBrowse link
Martsolf syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANOS1 anosmin 1 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:11044805 PMID:15001591 PMID:25077900 PMID:25741868 NCBI chr  X:7,012,410...7,223,223 JBrowse link
G ARHGAP35 Rho GTPase activating protein 35 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr 6:40,264,466...40,353,157
Ensembl chr 6:40,205,892...40,353,280 		JBrowse link
G ARHGAP5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr24:8,914,485...8,986,498
Ensembl chr24:8,928,252...8,988,302 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508 		JBrowse link
G IGSF10 immunoglobulin superfamily member 10 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr15:39,200,244...39,266,759
Ensembl chr15:39,240,849...39,265,142 		JBrowse link
G KLB klotho beta ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr27:10,860,301...10,933,480
Ensembl chr27:10,861,760...10,903,400 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 OMIM
ClinVar		 PMID:16532399 PMID:23420520 PMID:24891604 PMID:25741868 PMID:28492532 More... NCBI chr25:9,293,791...9,411,950
Ensembl chr25:9,293,838...9,415,319 		JBrowse link
G SEMA3A semaphorin 3A ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:22927827 PMID:25741868 NCBI chr21:64,723,860...64,942,705
Ensembl chr21:64,784,039...64,939,682 		JBrowse link
Martsolf Syndrome 2 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 2 OMIM
ClinVar		 PMID:23420520 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29300443 More... NCBI chr10:19,295,294...19,401,595
Ensembl chr10:19,295,351...19,402,212 		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 OMIM
ClinVar		 PMID:23181898 PMID:25741868 PMID:27582084 NCBI chr 1:35,155,318...35,162,813
Ensembl chr 1:35,159,671...35,161,632 		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 cataract, and psoriasiform dermatitis OMIM
ClinVar		 PMID:21285510 PMID:24144731 NCBI chr 7:111,688,591...111,704,765
Ensembl chr 7:111,688,604...111,704,849 		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 ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 OMIM
ClinVar		 PMID:30945270 NCBI chr 1:9,212,903...9,219,985
Ensembl chr 1:9,213,123...9,219,927 		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 chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478 		JBrowse link
G VSX2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities ClinVar PMID:10932181 PMID:11341888 PMID:17661825 PMID:23028343 PMID:25741868 More... NCBI chr24:51,446,781...51,471,156
Ensembl chr24:51,447,714...51,469,345 		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: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency | ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay OMIM
ClinVar		 PMID:8627443 PMID:16199547 PMID:18414213 PMID:19409522 PMID:20593814 More... NCBI chr 5:1,880,025...1,886,829
Ensembl chr 5:1,879,968...1,883,696 		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 More... NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788 		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: Myofibrillar myopathy 2 OMIM
ClinVar		 PMID:570292 PMID:8000975 PMID:9731540 PMID:11013455 PMID:12601044 More... NCBI chr 1:103,258,715...103,263,274
Ensembl chr 1:103,257,347...103,261,990 		JBrowse link
Nance-Horan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:17,428,416...17,573,497
Ensembl chr  X:17,427,532...17,468,812 		JBrowse link
G BCLAF3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:18,384,122...18,458,518
Ensembl chr  X:18,382,527...18,437,138 		JBrowse link
G BEND2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,615,823...16,671,541 JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,955,540...17,101,513 JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:18,589,940...18,606,680
Ensembl chr  X:18,588,232...18,606,648 		JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:17,820,316...17,981,894
Ensembl chr  X:17,819,474...17,981,402 		JBrowse link
G MAP7D2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:18,474,073...18,583,545
Ensembl chr  X:18,473,803...18,583,523 		JBrowse link
G NHS NHS actin remodeling regulator ISO ClinVar Annotator: match by term: NHS-related condition | ClinVar Annotator: match by term: Nance-Horan syndrome OMIM
ClinVar		 PMID:458526 PMID:2246772 PMID:9536098 PMID:14564667 PMID:15466011 More... NCBI chr  X:15,803,386...16,183,809
Ensembl chr  X:16,168,609...16,183,787 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:17,804,123...17,820,087 JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:17,333,146...17,422,653
Ensembl chr  X:17,333,657...17,422,457 		JBrowse link
G PPEF1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:17,130,694...17,265,097
Ensembl chr  X:17,175,007...17,264,701 		JBrowse link
G RAI2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,250,538...16,312,788
Ensembl chr  X:16,250,911...16,252,503 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:18,614,664...18,730,591
Ensembl chr  X:18,620,159...18,730,581 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:17,089,382...17,105,145
Ensembl chr  X:17,089,598...17,118,447 		JBrowse link
G SCML1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,193,787...16,208,945 JBrowse link
G SCML2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,680,560...16,803,443
Ensembl chr  X:16,680,567...16,782,447 		JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:17,999,262...18,357,003
Ensembl chr  X:17,999,211...18,357,157 		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 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28542170 PMID:28763441 More... NCBI chr28:20,098,155...20,132,683
Ensembl chr28:20,098,586...20,132,859 		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: NACC1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination OMIM
ClinVar		 PMID:25741868 PMID:28132692 PMID:28492532 NCBI chr 6:11,800,219...11,825,232
Ensembl chr 6:11,818,968...11,825,412 		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 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:27878435 PMID:30237576 NCBI chr16:494,882...501,634
Ensembl chr16:490,523...501,594 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia OMIM
ClinVar		 PMID:33443317 NCBI chr12:6,062,604...6,281,039
Ensembl chr12:6,062,569...6,281,050 		JBrowse link
nuclear senile cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO DNA:SNP: :rs9939609 (human) RGD PMID:19329528 RGD:329845885 NCBI chr 5:39,487,304...39,900,238
Ensembl chr 5:39,487,418...39,725,747 		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: CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31034465 NCBI chr 1:47,759,850...47,874,458
Ensembl chr 1:47,795,954...47,877,028 		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 3 | ClinVar Annotator: match by term: Optic atrophy, cataract, and neurologic disorder OMIM
ClinVar		 PMID:13703570 PMID:15342707 PMID:20301646 PMID:24136862 PMID:25159689 More... NCBI chr 6:38,974,455...39,032,780
Ensembl chr 6:39,001,467...39,032,347 		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: ABHD12-related condition | ClinVar Annotator: match by term: PHARC syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20797687 PMID:23806086 PMID:24088041 More...
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 1:103,258,715...103,263,274
Ensembl chr 1:103,257,347...103,261,990 		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 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities ClinVar PMID:15286169 PMID:16565358 NCBI chr 9:95,281,953...95,416,050
Ensembl chr 9:95,281,954...95,416,086 		JBrowse link
G PITX3 paired like homeodomain 3 ISO ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities ClinVar PMID:15286169 PMID:16565358 NCBI chr 9:95,266,257...95,278,333
Ensembl chr 9:95,266,582...95,268,139 		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 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 PMID:28492532 PMID:37321975 NCBI chr12:81,608,301...82,616,349
Ensembl chr12:81,609,229...81,925,984 		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 GPHN gephyrin ISO ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome ClinVar PMID:24916380 PMID:25741868 PMID:28492532 NCBI chr24:43,702,384...44,421,890
Ensembl chr24:43,880,344...44,422,276 		JBrowse link
G RDH11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome OMIM
ClinVar		 PMID:24916380 PMID:25741868 PMID:28492532 NCBI chr24:44,911,830...44,932,632
Ensembl chr24:44,909,001...44,932,611 		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 OMIM
ClinVar		 PMID:3560758 PMID:9536098 PMID:15168109 PMID:16199547 PMID:17576681 More... NCBI chr21:110,302,439...110,404,733
Ensembl chr21:110,337,966...110,403,436 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23266196 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		JBrowse link
senile cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase susceptibility ISO DNA:SNP:3' UTR: (rs4585) (human) RGD PMID:29156695 RGD:126790564 NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520 		JBrowse link
G CAT catalase treatment ISO protein:decreased activity:serum: RGD PMID:16129095 PMID:23781296 RGD:10003112 RGD:9068934 NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO RGD PMID:21501079 RGD:10045354 NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531 		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:21599457 PMID:24868140 RGD:10401083 RGD:10401084 NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073 		JBrowse link
G GHR growth hormone receptor ISO RGD PMID:16129095 RGD:10003112 NCBI chr 4:41,171,038...41,464,474
Ensembl chr 4:41,285,712...41,464,666 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO RGD PMID:16129095 RGD:10003112 NCBI chr22:10,754,976...10,756,617 JBrowse link
G GSR glutathione-disulfide reductase ISO RGD PMID:12518238 RGD:10401829 NCBI chr 8:28,778,713...28,851,907 JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : RGD PMID:10892871 RGD:8547933 NCBI chr 1:6,676,897...6,679,936 JBrowse link
G LOC103221743 heat shock 70 kDa protein 1A susceptibility ISO DNA:SNP: :1267A>G (human) RGD PMID:23666708 RGD:8662462 NCBI chr17:40,191,695...40,194,459
Ensembl chr17:40,203,936...40,205,858 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 ISO RGD PMID:22446016 RGD:14700972 NCBI chr20:23,854,969...23,861,634 JBrowse link
G NAT2 N-acetyltransferase 2 ISO RGD PMID:16251120 RGD:8552653 NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:missense mutation:cds:p.S326C (human) RGD PMID:24868140 RGD:10401084 NCBI chr22:45,757,414...45,763,690 JBrowse link
G SIRT1 sirtuin 1 ISO RGD PMID:21501079 RGD:10045354 NCBI chr 9:63,463,059...63,497,893
Ensembl chr 9:63,462,389...63,497,867 		JBrowse link
G WRN WRN RecQ like helicase susceptibility
no_association		 ISO DNA:missense mutation:cds:p.C1367R (rs1346044) (human) RGD PMID:20808731 PMID:23334603 RGD:10042984 RGD:10042985 NCBI chr 8:29,150,256...29,288,830
Ensembl chr 8:29,174,229...29,289,129 		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 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094 		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 Annotator: match by term: XYLT2-related condition OMIM
ClinVar		 PMID:16571645 PMID:25741868 PMID:26027496 PMID:26987875 PMID:28492532 More... NCBI chr16:42,969,198...42,984,542
Ensembl chr16:42,970,041...42,984,438 		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 susceptibility ISO ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects OMIM
ClinVar		 PMID:9536098 PMID:10980529 PMID:11477212 PMID:12325075 PMID:15622525 More... NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033 		JBrowse link
syndromic microphthalmia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6AP2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Oculofaciocardiodental syndrome ClinVar PMID:28492532 NCBI chr  X:37,742,550...37,769,022
Ensembl chr  X:37,742,545...37,769,062 		JBrowse link
G BCOR BCL6 corepressor ISO ClinVar Annotator: match by term: BCOR-related condition | ClinVar Annotator: match by term: Oculofaciocardiodental syndrome OMIM
ClinVar		 PMID:15004558 PMID:15770227 PMID:16199547 PMID:16829040 PMID:18414213 More... NCBI chr  X:37,191,242...37,319,966
Ensembl chr  X:37,192,874...37,319,782 		JBrowse link
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TKFC triokinase and FMN cyclase ISO ClinVar Annotator: match by term: Triokinase and FMN cyclase deficiency syndrome OMIM
ClinVar		 PMID:25741868 PMID:32004446 NCBI chr 1:12,495,058...12,508,693
Ensembl chr 1:12,495,477...12,507,927 		JBrowse link
Vici syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:34,446,996...34,573,186
Ensembl chr18:34,451,095...34,474,080 		JBrowse link
G ARK2N arkadia (RNF111) N-terminal like PKA signaling regulator 2N ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:34,641,758...34,741,608
Ensembl chr18:34,645,568...34,741,075 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:34,815,924...34,828,052
Ensembl chr18:34,816,027...34,830,924 		JBrowse link
G ELOA2 elongin A2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:33,924,612...33,927,003 JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: EPG5-related condition | ClinVar Annotator: match by term: Vici syndrome OMIM
ClinVar		 PMID:3344762 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 More... NCBI chr18:34,946,778...35,065,449
Ensembl chr18:34,946,796...35,060,595 		JBrowse link
G HAUS1 HAUS augmin like complex subunit 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:34,783,063...34,810,249
Ensembl chr18:34,783,271...34,810,076 		JBrowse link
G HDHD2 haloacid dehalogenase like hydrolase domain containing 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:33,793,661...33,842,397
Ensembl chr18:33,815,017...33,841,508 		JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:33,767,897...33,789,114
Ensembl chr18:33,767,957...33,790,095 		JBrowse link
G KATNAL2 katanin catalytic subunit A1 like 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:33,848,471...33,967,832
Ensembl chr18:33,848,748...33,907,092 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:34,247,584...34,431,038
Ensembl chr18:34,249,250...34,430,532 		JBrowse link
G PIAS2 protein inhibitor of activated STAT 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:33,967,894...34,075,824
Ensembl chr18:33,967,999...34,067,910 		JBrowse link
G PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:34,842,905...34,937,049
Ensembl chr18:34,882,194...34,933,693 		JBrowse link
G SETBP1 SET binding protein 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:35,819,559...36,195,895 JBrowse link
G SIGLEC15 sialic acid binding Ig like lectin 15 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:35,070,459...35,087,525 JBrowse link
G SKOR2 SKI family transcriptional corepressor 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:33,687,044...33,731,464
Ensembl chr18:33,687,057...33,716,606 		JBrowse link
G SLC14A1 solute carrier family 14 member 1 (Kidd blood group) ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:35,148,552...35,176,121
Ensembl chr18:35,146,190...35,174,948 		JBrowse link
G SLC14A2 solute carrier family 14 member 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:35,209,672...35,684,142
Ensembl chr18:35,209,267...35,404,626 		JBrowse link
G SMAD2 SMAD family member 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:33,017,138...33,105,320
Ensembl chr18:33,017,492...33,104,606 		JBrowse link
G ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:34,139,529...34,229,582
Ensembl chr18:34,140,253...34,228,664 		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 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:27,048,653...27,085,034
Ensembl chr 9:27,048,647...27,082,924 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747 NCBI chr10:19,295,294...19,401,595
Ensembl chr10:19,295,351...19,402,212 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar PMID:28492532 NCBI chr25:9,293,791...9,411,950
Ensembl chr25:9,293,838...9,415,319 		JBrowse link
G TBC1D20 TBC1 domain family member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:56,065,975...56,093,521
Ensembl chr 2:56,066,042...56,094,333 		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: RAB3GAP1-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 1 OMIM
ClinVar		 PMID:8249951 PMID:9536098 PMID:15216543 PMID:15696165 PMID:16199547 More... NCBI chr10:19,295,294...19,401,595
Ensembl chr10:19,295,351...19,402,212 		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: MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 More... NCBI chr25:9,293,791...9,411,950
Ensembl chr25:9,293,838...9,415,319 		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 OMIM
ClinVar		 PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443 NCBI chr 9:27,048,653...27,085,034
Ensembl chr 9:27,048,647...27,082,924 		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 OMIM
ClinVar		 PMID:24239381 PMID:25741868 PMID:32740904 NCBI chr 2:56,065,975...56,093,521
Ensembl chr 2:56,066,042...56,094,333 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15272
    sensory system disease 6522
      eye disease 3343
        lens disease 412
          cataract 402
            3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia + 50
            Adams Nance Syndrome 0
            Alpha-B Crystallinopathy with Cataract 0
            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
            Baralle-Macken 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
            CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 1
            Capsule Opacification 0
            Cataract 49 1
            Cataract 50 with or without Glaucoma 1
            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 1
            Cataract, Cortical Pulverulent, Late-Onset 0
            Cataract, Crystalline Coralliform 0
            Cataract, Lamellar 2 1
            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 1
            Cataract, Variable Zonular Pulverulent 0
            Cataract, Zonular Central Nuclear 0
            Cataracts, Ataxia, Short Stature, and Mental Retardation 0
            Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis + 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 2
            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, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY 1
            Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
            Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
            EDICT Syndrome 0
            Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 0
            Familial Partial Lipodystrophy Type 7 1
            Fine-Lubinsky Syndrome 3
            Floriform Cataract 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 2
            Isolated Microphthalmia with Cataract 3 0
            Isolated Microphthalmia with Cataract 4 1
            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
            Lubinsky Syndrome 0
            Marinesco-Sjogren syndrome 2
            Marshall syndrome + 4
            Martsolf Syndrome + 19
            Microcephalic Primordial Dwarfism Toriello Type 0
            Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
            Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 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 SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA 1
            Nance-Horan syndrome 17
            Nathalie Syndrome 0
            Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
            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 1
            Remitting Chorea with Nystagmus and Cataracts 0
            Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 2
            Schaap Taylor Baraitser Syndrome 0
            Seemanova Lesny Syndrome 0
            Sengers syndrome 2
            Seow Najjar Syndrome 0
            Singh Chhaparwal Dhanda Syndrome 0
            Slavotinek Pike Mills Hurst Syndrome 0
            Spondyloocular Syndrome, Autosomal Recessive 1
            Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 1
            TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME 1
            Vici syndrome 19
            Warburg micro syndrome + 4
            Wellesley Carmen French Syndrome 0
            Zonular Cataract and Nystagmus 0
            aniridia 1 7
            cataract 1 multiple types 6
            cataract 10 multiple types 1
            cataract 11 multiple types + 2
            cataract 12 multiple types 1
            cataract 13 with adult i phenotype 8
            cataract 14 multiple types 8
            cataract 15 multiple types 1
            cataract 16 multiple types 2
            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 9
            cataract 24 0
            cataract 25 0
            cataract 26 multiple types 0
            cataract 27 2
            cataract 28 0
            cataract 29 0
            cataract 3 multiple types 2
            cataract 30 2
            cataract 31 multiple types 1
            cataract 32 multiple types 0
            cataract 33 3
            cataract 34 multiple types 1
            cataract 35 0
            cataract 36 1
            cataract 37 0
            cataract 38 1
            cataract 39 multiple types 1
            cataract 4 multiple types + 2
            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 24
            cataract 6 multiple types 2
            cataract 7 2
            cataract 8 multiple types 0
            cataract 9 multiple types 61
            cerebrooculofacioskeletal syndrome 2 2
            cerebrooculofacioskeletal syndrome 4 2
            congenital muscular dystrophy with cataracts and intellectual disability 1
            diabetic cataract 1
            foveal hypoplasia 1 2
            hereditary spastic paraplegia 9A 1
            hyperferritinemia-cataract syndrome 2
            hypomyelinating leukodystrophy 5 8
            myofibrillar myopathy 2 1
            myotonic cataract 0
            neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1
            neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 1
            optic atrophy 3 1
            palmoplantar keratoderma and congenital alopecia 2 0
            posterior polar cataract 1
            senile cataract + 17
            spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 0
            syndromic microphthalmia 2 2
            tetanic cataract 0
Path 2
Term Annotations click to browse term
  disease 15272
    disease of anatomical entity 14892
      nervous system disease 12970
        Neurologic Manifestations 9421
          sensory system disease 6522
            eye disease 3343
              lens disease 412
                cataract 402
                  3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia + 50
                  Adams Nance Syndrome 0
                  Alpha-B Crystallinopathy with Cataract 0
                  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
                  Baralle-Macken 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
                  CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 1
                  Capsule Opacification 0
                  Cataract 49 1
                  Cataract 50 with or without Glaucoma 1
                  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 1
                  Cataract, Cortical Pulverulent, Late-Onset 0
                  Cataract, Crystalline Coralliform 0
                  Cataract, Lamellar 2 1
                  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 1
                  Cataract, Variable Zonular Pulverulent 0
                  Cataract, Zonular Central Nuclear 0
                  Cataracts, Ataxia, Short Stature, and Mental Retardation 0
                  Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis + 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 2
                  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, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY 1
                  Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
                  Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
                  EDICT Syndrome 0
                  Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 0
                  Familial Partial Lipodystrophy Type 7 1
                  Fine-Lubinsky Syndrome 3
                  Floriform Cataract 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 2
                  Isolated Microphthalmia with Cataract 3 0
                  Isolated Microphthalmia with Cataract 4 1
                  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
                  Lubinsky Syndrome 0
                  Marinesco-Sjogren syndrome 2
                  Marshall syndrome + 4
                  Martsolf Syndrome + 19
                  Microcephalic Primordial Dwarfism Toriello Type 0
                  Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
                  Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 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 SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA 1
                  Nance-Horan syndrome 17
                  Nathalie Syndrome 0
                  Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
                  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 1
                  Remitting Chorea with Nystagmus and Cataracts 0
                  Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 2
                  Schaap Taylor Baraitser Syndrome 0
                  Seemanova Lesny Syndrome 0
                  Sengers syndrome 2
                  Seow Najjar Syndrome 0
                  Singh Chhaparwal Dhanda Syndrome 0
                  Slavotinek Pike Mills Hurst Syndrome 0
                  Spondyloocular Syndrome, Autosomal Recessive 1
                  Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 1
                  TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME 1
                  Vici syndrome 19
                  Warburg micro syndrome + 4
                  Wellesley Carmen French Syndrome 0
                  Zonular Cataract and Nystagmus 0
                  aniridia 1 7
                  cataract 1 multiple types 6
                  cataract 10 multiple types 1
                  cataract 11 multiple types + 2
                  cataract 12 multiple types 1
                  cataract 13 with adult i phenotype 8
                  cataract 14 multiple types 8
                  cataract 15 multiple types 1
                  cataract 16 multiple types 2
                  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 9
                  cataract 24 0
                  cataract 25 0
                  cataract 26 multiple types 0
                  cataract 27 2
                  cataract 28 0
                  cataract 29 0
                  cataract 3 multiple types 2
                  cataract 30 2
                  cataract 31 multiple types 1
                  cataract 32 multiple types 0
                  cataract 33 3
                  cataract 34 multiple types 1
                  cataract 35 0
                  cataract 36 1
                  cataract 37 0
                  cataract 38 1
                  cataract 39 multiple types 1
                  cataract 4 multiple types + 2
                  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 24
                  cataract 6 multiple types 2
                  cataract 7 2
                  cataract 8 multiple types 0
                  cataract 9 multiple types 61
                  cerebrooculofacioskeletal syndrome 2 2
                  cerebrooculofacioskeletal syndrome 4 2
                  congenital muscular dystrophy with cataracts and intellectual disability 1
                  diabetic cataract 1
                  foveal hypoplasia 1 2
                  hereditary spastic paraplegia 9A 1
                  hyperferritinemia-cataract syndrome 2
                  hypomyelinating leukodystrophy 5 8
                  myofibrillar myopathy 2 1
                  myotonic cataract 0
                  neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1
                  neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 1
                  optic atrophy 3 1
                  palmoplantar keratoderma and congenital alopecia 2 0
                  posterior polar cataract 1
                  senile cataract + 17
                  spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 0
                  syndromic microphthalmia 2 2
                  tetanic cataract 0
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