MCID: CRT003
MIFTS: 11

Cortical Senile Cataract

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Cortical Senile Cataract

MalaCards integrated aliases for Cortical Senile Cataract:

Name: Cortical Senile Cataract 12 6 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:13574
ICD9CM 35 366.15
SNOMED-CT 68 78875003
UMLS 73 C0154980

Summaries for Cortical Senile Cataract

MalaCards based summary : Cortical Senile Cataract is related to cataract and early-onset nuclear cataract. An important gene associated with Cortical Senile Cataract is EPHA2 (EPH Receptor A2). Affiliated tissues include eye, and related phenotype is Negative genetic interaction between PTEN-/- and PTEN+/+.

Related Diseases for Cortical Senile Cataract

Diseases related to Cortical Senile Cataract via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cataract 9.8 CRYAA EPHA2
2 early-onset nuclear cataract 9.8 CRYAA EPHA2
3 cataract 44 9.8 CRYAA EPHA2
4 cataract 16, multiple types 9.7 CRYAA EPHA2

Symptoms & Phenotypes for Cortical Senile Cataract

GenomeRNAi Phenotypes related to Cortical Senile Cataract according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTEN-/- and PTEN+/+ GR00255-A-3 8.62 CRYAA EPHA2

Drugs & Therapeutics for Cortical Senile Cataract

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tear Film Evaluation After Phacoemulsification Unknown status NCT02238015

Search NIH Clinical Center for Cortical Senile Cataract

Genetic Tests for Cortical Senile Cataract

Anatomical Context for Cortical Senile Cataract

MalaCards organs/tissues related to Cortical Senile Cataract:

41
Eye

Publications for Cortical Senile Cataract

Variations for Cortical Senile Cataract

ClinVar genetic disease variations for Cortical Senile Cataract:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EPHA2 NM_004431.4(EPHA2): c.2162G> A (p.Arg721Gln) single nucleotide variant Likely benign rs116506614 GRCh37 Chromosome 1, 16458722: 16458722
2 EPHA2 NM_004431.4(EPHA2): c.2162G> A (p.Arg721Gln) single nucleotide variant Likely benign rs116506614 GRCh38 Chromosome 1, 16132227: 16132227

Expression for Cortical Senile Cataract

Search GEO for disease gene expression data for Cortical Senile Cataract.

Pathways for Cortical Senile Cataract

GO Terms for Cortical Senile Cataract

Biological processes related to Cortical Senile Cataract according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 8.62 CRYAA EPHA2

Sources for Cortical Senile Cataract

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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