Cataract Hutterite Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Cataract Hutterite Type

MalaCards integrated aliases for Cataract Hutterite Type:

Name: Cataract Hutterite Type ⁵³ ²⁹ ⁶ ⁷³

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷³ C2931791

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Summaries for Cataract Hutterite Type

MalaCards based summary : Cataract Hutterite Type is related to cataract 46, juvenile-onset. An important gene associated with Cataract Hutterite Type is LEMD2 (LEM Domain Containing 2).

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Related Diseases for Cataract Hutterite Type

Diseases related to Cataract Hutterite Type via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	cataract 46, juvenile-onset	11.3

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Symptoms & Phenotypes for Cataract Hutterite Type

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Drugs & Therapeutics for Cataract Hutterite Type

Search Clinical Trials , NIH Clinical Center for Cataract Hutterite Type

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Genetic Tests for Cataract Hutterite Type

Genetic tests related to Cataract Hutterite Type:

#	Genetic test	Affiliating Genes
1	Cataract Hutterite Type ²⁹	LEMD2

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Anatomical Context for Cataract Hutterite Type

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Publications for Cataract Hutterite Type

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Genes for Cataract Hutterite Type

Genes related to Cataract Hutterite Type (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LEMD2	LEM Domain Containing 2	Protein Coding	517.62	Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)

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Variations for Cataract Hutterite Type

ClinVar genetic disease variations for Cataract Hutterite Type:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	LEMD2	NM_181336.3(LEMD2): c.38T> G (p.Leu13Arg)	single nucleotide variant	Pathogenic	rs878852983	GRCh37	Chromosome 6, 33756856: 33756856
2	LEMD2	NM_181336.3(LEMD2): c.38T> G (p.Leu13Arg)	single nucleotide variant	Pathogenic	rs878852983	GRCh38	Chromosome 6, 33789079: 33789079

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Expression for Cataract Hutterite Type

Search GEO for disease gene expression data for Cataract Hutterite Type.

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Pathways for Cataract Hutterite Type

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GO Terms for Cataract Hutterite Type

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Sources for Cataract Hutterite Type

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁹ Cosmic

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²⁰ GeneAnalytics

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

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³² HPO

³³ ICD10

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³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

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⁴¹ MalaCards

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⁴⁸ NCBI Bookshelf

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⁵⁷ OMIM

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⁷¹ TGDB

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia