Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1714
Gene name Gene Name - the full gene name approved by the HGNC.
DiGeorge syndrome chromosome region
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DGCR
Synonyms (NCBI Gene) Gene synonyms aliases
CATCH22, DGS, VCF
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DGS
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.21-q11.23
Summary Summary of gene provided in NCBI Entrez Gene.
DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can acc
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
188400 2844 HGNC
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Conotruncal anomaly face syndrome CONOTRUNCAL ANOMALY FACE SYNDROME rs28939675, rs1601294362
Digeorge syndrome DiGeorge Syndrome rs587776825, rs1555895466
Associations from Text Mining
Disease Name Relationship Type References
DiGeorge Syndrome Associate 2339689, 9536094
Kenny Caffey syndrome Type 1 Associate 9475091