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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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3763
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Potassium inwardly rectifying channel subfamily J member 6 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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KCNJ6 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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BIR1, GIRK-2, GIRK2, KATP-2, KATP2, KCNJ7, KIR3.2, KPLBS, hiGIRK2 |
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Chromosome
Chromosome number
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21 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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21q22.13 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulat |
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
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| Disease merge term |
Disease name |
dbSNP ID |
References |
| Keppen-Lubinsky Syndrome |
keppen-lubinsky syndrome |
rs786204794, rs786204795, rs1556023562 |
N/A |
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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.
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| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Breast Cancer |
Breast cancer |
N/A |
N/A |
GWAS |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
| Gout |
Gout |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
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