MCID: CTR044
MIFTS: 10

Cataract with Late-Onset Corneal Dystrophy malady

Genetic diseases (common) category

Summaries for Cataract with Late-Onset Corneal Dystrophy

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Sources:
48OMIM, 34MalaCards
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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:48 106210

Aliases & Classifications for Cataract with Late-Onset Corneal Dystrophy

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Sources:
48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

cataract with late-onset corneal dystrophy 48


Related Diseases for Cataract with Late-Onset Corneal Dystrophy

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Symptoms for Cataract with Late-Onset Corneal Dystrophy

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Sources:
48OMIM
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Clinical features from OMIM:

106210

Drugs & Therapeutics for Cataract with Late-Onset Corneal Dystrophy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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Variations for Cataract with Late-Onset Corneal Dystrophy

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Cataract with Late-Onset Corneal Dystrophy:

65 (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

Clinvar genetic disease variations for Cataract with Late-Onset Corneal Dystrophy:

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1PAX6PAX6, 2-BP INSinsertionPathogenic
2PAX6PAX6, EXON G DELdeletionPathogenic
3PAX6NM_000280.4(PAX6): c.406C> T (p.Gln136Ter)single nucleotide variantPathogenicrs121907912GRCh37Chr 11, 31822356: 31822356
4PAX6NM_000280.4(PAX6): c.76C> G (p.Arg26Gly)single nucleotide variantPathogenicrs121907913GRCh37Chr 11, 31824317: 31824317
5PAX6NM_000280.4(PAX6): c.307C> T (p.Arg103Ter)single nucleotide variantPathogenicrs121907914GRCh37Chr 11, 31823159: 31823159
6PAX6PAX6, IVS12DS, G-C, -1single nucleotide variantPathogenic
7PAX6NM_000280.4(PAX6): c.607C> T (p.Arg203Ter)single nucleotide variantPathogenicrs121907916GRCh37Chr 11, 31816253: 31816253
8PAX6NM_000280.4(PAX6): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs121907917GRCh37Chr 11, 31815627: 31815627
9PAX6PAX6, IVS11AS, A-G, -2single nucleotide variantPathogenic
10PAX6NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu)single nucleotide variantPathogenicrs121907922GRCh37Chr 11, 31811483: 31811483
11PAX6NM_000280.4(PAX6): c.725G> C (p.Arg242Thr)single nucleotide variantPathogenicrs121907927GRCh37Chr 11, 31815620: 31815620
12PAX6NM_000280.4(PAX6): c.357C> A (p.Ser119Arg)single nucleotide variantPathogenicrs121907928GRCh37Chr 11, 31823109: 31823109
13PAX6NM_000280.4(PAX6): c.112C> T (p.Arg38Trp)single nucleotide variantPathogenicrs397514640GRCh37Chr 11, 31824281: 31824281

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

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cataract with Late-Onset Corneal Dystrophy

Search GEO for disease gene expression data for Cataract with Late-Onset Corneal Dystrophy.

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet