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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 46 juvenile-onset
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Accession:DOID:0110243 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: CTRCT46;   cataract, Hutterite type;   juvenilae cataract Hutterite type;   juvenile cataract, Hutterite type;   juvenile-onset cataract-46 with or without arrhythmic cardiomyopathy
 broad_synonym: LEMD2-RELATED CONDITION
 xref: MESH:C538286;   MIM:212500;   MONDO:0008925


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cataract 46 juvenile-onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017 		JBrowse link
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:184,129,830...184,135,075
Ensembl chr 2:184,129,238...184,135,116 		JBrowse link
G Ankrd35 ankyrin repeat domain 35 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:184,207,076...184,227,063
Ensembl chr 2:184,207,071...184,227,063 		JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435 		JBrowse link
G Bola1 bolA family member 1 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:183,758,515...183,771,445
Ensembl chr 2:183,758,441...183,781,576 		JBrowse link
G Cd160 CD160 molecule ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:184,340,820...184,383,421
Ensembl chr 2:184,340,599...184,375,834 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595 		JBrowse link
G Fcgr1a Fc gamma receptor 1A ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994 		JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693 		JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY | ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:21779674 PMID:25741868 PMID:29464339 PMID:31618082 PMID:31690835 More... NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Gpr89b G protein-coupled receptor 89B ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584 		JBrowse link
G H2ac18 H2A clustered histone 18 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:186,497,271...186,497,865 JBrowse link
G H2ac20 H2A clustered histone 20 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:183,779,879...183,780,357 JBrowse link
G H2ac21 H2A clustered histone 21 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:183,779,355...183,779,788 JBrowse link
G H2bc18 H2B clustered histone 18 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:183,838,331...183,842,769
Ensembl chr 2:183,838,334...183,841,529 		JBrowse link
G H3c13 H3 clustered histone 13 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr17:41,531,502...41,531,971
Ensembl chr 2:183,795,504...183,809,469
Ensembl chr17:183,795,504...183,809,469
Ensembl chr 2:183,795,504...183,809,469
Ensembl chr17:183,795,504...183,809,469
Ensembl chr17:183,795,504...183,809,469
Ensembl chr 2:183,795,504...183,809,469 		JBrowse link
G Hist1h2bc histone cluster 1, H2bc ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr17:42,692,335...42,696,601
Ensembl chr17:42,694,723...42,696,642 		JBrowse link
G Hist2h3c2 histone cluster 2 H3 family member C2 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:183,837,296...183,837,721
Ensembl chr 2:183,837,303...183,837,752 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850 		JBrowse link
G Itga10 integrin subunit alpha 10 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:184,182,869...184,202,172
Ensembl chr 2:184,182,869...184,202,172 		JBrowse link
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:25741868 More... NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626 		JBrowse link
G Lix1l limb and CNS expressed 1 like ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:184,136,018...184,161,918
Ensembl chr 2:184,136,038...184,161,916 		JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:183,721,983...183,732,148
Ensembl chr 2:183,723,530...183,732,148 		JBrowse link
G Nudt17 nudix hydrolase 17 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:184,241,468...184,243,960
Ensembl chr 2:184,241,468...184,243,960 		JBrowse link
G Otud7b OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:183,661,955...183,722,584
Ensembl chr 2:183,662,163...183,718,674 		JBrowse link
G Pde4dip phosphodiesterase 4D interacting protein ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:185,293,236...185,490,100
Ensembl chr 2:185,293,214...185,468,379 		JBrowse link
G Pdzk1 PDZ domain containing 1 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:184,376,161...184,407,514
Ensembl chr 2:184,376,161...184,407,514 		JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495 		JBrowse link
G Pias3 protein inhibitor of activated STAT, 3 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:186,921,384...186,930,292
Ensembl chr 2:184,232,571...184,241,480 		JBrowse link
G Polr3c RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:184,246,201...184,262,150
Ensembl chr 2:184,246,204...184,262,208 		JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114 		JBrowse link
G Ppial4g peptidylprolyl isomerase A like 4G ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr15:74,015,628...74,016,215
Ensembl chr15:74,015,628...74,016,215 		JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872 		JBrowse link
G Rbm8a RNA binding motif protein 8A ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:184,165,189...184,167,959
Ensembl chr 2:184,165,193...184,167,959 		JBrowse link
G Rnf115 ring finger protein 115 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:186,950,959...187,018,673
Ensembl chr 2:184,262,371...184,329,823 		JBrowse link
G Rnvu1-27l1 RNA, variant U1 small nuclear 27 like 1 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:183,943,024...183,943,187
Ensembl chr 2:183,943,024...183,943,187 		JBrowse link
G Rnvu1-6 RNA, variant U1 small nuclear 6 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:220,206,250...220,206,413
Ensembl chr 2:220,206,250...220,206,413 		JBrowse link
G Rnvu1-7l1 RNA, variant U1 small nuclear 7 like 1 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr18:79,901,335...79,901,477
Ensembl chr18:79,901,335...79,901,477
Ensembl chr18:79,901,335...79,901,477 		JBrowse link
G Sf3b4 splicing factor 3B subunit 4 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959 		JBrowse link
G Sv2a synaptic vesicle glycoprotein 2a ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:183,741,489...183,757,290
Ensembl chr 2:183,741,547...183,756,927 		JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset ClinVar PMID:29464339 PMID:31690835 NCBI chr 2:186,781,933...186,785,736
Ensembl chr 2:184,092,991...184,096,886 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    sensory system disease 7372
      eye disease 3728
        lens disease 559
          cataract 548
            cataract 46 juvenile-onset 42
Path 2
Term Annotations click to browse term
  disease 19145
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Neurologic Manifestations 10461
          sensory system disease 7372
            eye disease 3728
              lens disease 559
                cataract 548
                  cataract 46 juvenile-onset 42
paths to the root