MCID: CTR011
MIFTS: 6

Cataract Hutterite Type

Categories: Rare diseases

Aliases & Classifications for Cataract Hutterite Type

MalaCards integrated aliases for Cataract Hutterite Type:

Name: Cataract Hutterite Type 53 29 6 73

Classifications:



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UMLS 73 C2931791

Summaries for Cataract Hutterite Type

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

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 11.5
2 cataract 10.1

Symptoms & Phenotypes for Cataract Hutterite Type

Drugs & Therapeutics for Cataract Hutterite Type

Search Clinical Trials , NIH Clinical Center for Cataract Hutterite Type

Genetic Tests for Cataract Hutterite Type

Genetic tests related to Cataract Hutterite Type:

# Genetic test Affiliating Genes
1 Cataract Hutterite Type 29 LEMD2

Anatomical Context for Cataract Hutterite Type

Publications for Cataract Hutterite Type

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

Expression for Cataract Hutterite Type

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

Pathways for Cataract Hutterite Type

GO Terms for Cataract Hutterite Type

Sources for Cataract Hutterite Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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