Catalog "HUMAN GENES ASSOCIATED WITH SPERM ABNORMALITIES CAUSED BY IMPAIRED SPERMATOGENESIS (PATHOZOOSPERMIA)"

Currently, the database contains date of 126 genes with polymorphic loci associated with various pathology manifestation. Common scheme of database HGAPat is shown on the figure 1.

Figure 1. Scheme of the database "HUMAN GENES ASSOCIATED WITH PATHOZOOSPERMIA"

The table Genes contains identifies, symbols, full names and chromosomal localization of genes.

FieldDescription
IDGene
SymbolThe symbol of the gene from the database EntrezGene
FullName The full name of the gene from the database EntrezGene
MapLocationMap location (according to ftp://ftp.ncbi.nlm.nih.gov/refseq/H_sapiens/)
ExpressionPatternSpecificity of expression = Expression pattern (Testis-specific, testis-enriched, other)
GOAnnotation Response to unfavorable conditions

The PubGenes contains gene name in article from the article

FieldDescription
GeneIDGene identifier
PubMedIDPubMed identifier of the research article
OtherGenesName Other gene name from the article

The “Disease” table contains the variants of pathology manifestation.

FieldDescription
IDDiseaseDisease identifier
InfertilityPhenotypeInfertility phenotype
Manifestation Manifestation of pathology

The “GeneticVariant” table is the main table that containes data on associations between allelic variants of genes and specific forms of pathozoospermia

FieldDescription
IDRowIdentifier of row
GeneIDGene identifier
PubMedIDPubMed identifier of the research article
DiseaseIDPathozoospermia identifier
Population
VariantIDVariant ID from dbSNP given in the article
DesignationThe designation of the variant, as it was used in the article
RiskAlleleName of Allele
LocationThe location of the variant in gene region (exon, intron, etc.)
OddsRatioOdds ratio
LowerOddsRatioLower limit of confidence interval of the Odds Ratio
UpperOddsRatioUpper limit of confidence interval of the Odds Ratio
DesignationHGVSVariant designation according to HGVS
PhenotypeDetailsInfertility phenotype details (if available in the article)
 

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