Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1409
Gene name Gene Name - the full gene name approved by the HGNC.
Crystallin alpha A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRYAA
Synonyms (NCBI Gene) Gene synonyms aliases
CRYA1, CTRCT9, HSPB4
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of th
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025225 hsa-miR-34a-5p Proteomics 21566225
MIRT025225 hsa-miR-34a-5p Proteomics 21566225
MIRT025225 hsa-miR-34a-5p Proteomics 21566225
MIRT030179 hsa-miR-26b-5p Microarray 19088304
MIRT732894 hsa-miR-551b-3p Western blotting, qRT-PCR 32835529
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0002088 Process Lens development in camera-type eye IBA
GO:0002088 Process Lens development in camera-type eye IEA
GO:0002089 Process Lens morphogenesis in camera-type eye IEA
GO:0005198 Function Structural molecule activity IDA 16303126
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
123580 2388 ENSG00000160202
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Protein processing in endoplasmic reticulum  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cataract Cataract 9 multiple types, Developmental cataract rs397515623, rs397515624, rs397515625, rs397515626, rs74315439, rs864309685, rs74315441, rs121912973, rs398122947 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microcornea cataract - microcornea syndrome N/A N/A GenCC
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AIDS Related Complex Associate 28755661
Anterior segment mesenchymal dysgenesis Associate 32791987
Axial osteomalacia Associate 21686328
Capsule Opacification Associate 28640093
Cataract Associate 16862070, 18587492, 19390652, 20029648, 21686328, 22065922, 23288997, 23441109, 25729975, 26004348, 26867756, 26984531, 28640093, 28839118, 29259299
View all (6 more)
Cataract Age Related Nuclear Associate 19595763, 26984531, 27507241, 28146420, 28755661, 30286462
Cataract Autosomal Dominant Associate 29259299
Cataract Autosomal Dominant Nuclear Associate 19390652, 28146420, 33243271
Cataract microcornea syndrome Associate 16735993, 21686328, 23441109, 28640093, 32791987
Cataract Nuclear Progressive Associate 28755661