MCID: CTR044
MIFTS: 10

Cataract with Late-Onset Corneal Dystrophy malady

Summaries for Cataract with Late-Onset Corneal Dystrophy

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Sources:
46OMIM, 32MalaCards
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MalaCards: Cataract with Late-Onset Corneal Dystrophy An important gene associated with Cataract with Late-Onset Corneal Dystrophy is PAX6 (paired box 6).

Description from OMIM:46 106210

Aliases & Classifications for Cataract with Late-Onset Corneal Dystrophy

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46OMIM
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Aliases & Descriptions:

cataract with late-onset corneal dystrophy 46


Related Diseases for Cataract with Late-Onset Corneal Dystrophy

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Clinical Features for Cataract with Late-Onset Corneal Dystrophy

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46OMIM
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Clinical features from OMIM:

106210

Drugs & Therapeutics for Cataract with Late-Onset Corneal Dystrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cataract with Late-Onset Corneal Dystrophy

Drug clinical trials:

Search ClinicalTrials for Cataract with Late-Onset Corneal Dystrophy

Search NIH Clinical Center for Cataract with Late-Onset Corneal Dystrophy

Search CenterWatch for Cataract with Late-Onset Corneal Dystrophy

Genetic Tests for Cataract with Late-Onset Corneal Dystrophy

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Anatomical Context for Cataract with Late-Onset Corneal Dystrophy

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Animal Models for Cataract with Late-Onset Corneal Dystrophy or affiliated genes

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Publications for Cataract with Late-Onset Corneal Dystrophy

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Genetic Variations for Cataract with Late-Onset Corneal Dystrophy

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Cataract with Late-Onset Corneal Dystrophy:

62 (show all 28)
id Symbol AA change Variation ID SNP ID
1PAX6p.Asn17SerVAR_003808
2PAX6p.Gly18TrpVAR_003809
3PAX6p.Ile29ValVAR_003811
4PAX6p.Arg44GlnVAR_003812
5PAX6p.Ile87ArgVAR_003813
6PAX6p.Gln178HisVAR_003815
7PAX6p.Arg208TrpVAR_003816
8PAX6p.Ile29SerVAR_008694
9PAX6p.Ala33ProVAR_008695
10PAX6p.Ile42SerVAR_008697
11PAX6p.Ser43ProVAR_008698
12PAX6p.Val53LeuVAR_008699
13PAX6p.Thr63ProVAR_008701
14PAX6p.Ala79GluVAR_008703
15PAX6p.Ser119ArgVAR_008704
16PAX6p.Val126AspVAR_008705
17PAX6p.Arg208GlnVAR_008706
18PAX6p.Ser353AlaVAR_008707
19PAX6p.Gln422ArgVAR_008708
20PAX6p.Pro375GlnVAR_015066rs200015827
21PAX6p.Arg19ProVAR_047860
22PAX6p.Leu46ArgVAR_047861
23PAX6p.Cys52ArgVAR_047862
24PAX6p.Ile56ThrVAR_047863
25PAX6p.Gly73AspVAR_047864
26PAX6p.Ile87LysVAR_047865
27PAX6p.Arg242ThrVAR_047866
28PAX6p.Gly395ArgVAR_067698

Expression for genes affiliated with Cataract with Late-Onset Corneal Dystrophy

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cataract with Late-Onset Corneal Dystrophy

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Pathways for genes affiliated with Cataract with Late-Onset Corneal Dystrophy

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Compounds for genes affiliated with Cataract with Late-Onset Corneal Dystrophy

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GO Terms for genes affiliated with Cataract with Late-Onset Corneal Dystrophy

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Products for genes affiliated with Cataract with Late-Onset Corneal Dystrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cataract with Late-Onset Corneal Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet