C12orf42 (chromosome 12 open reading frame 42)

Gene
Gene Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
374470
Gene name Gene Name - the full gene name approved by the HGNC.
Chromosome 12 open reading frame 42
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C12orf42
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q23.2-q23.3
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene Other IDs Protein Associated diseases
UniProt ID Q96LP6
Protein name Uncharacterized protein C12orf42
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15380 DUF4607 96 → 359 Domain of unknown function (DUF4607) Family
Sequence
Sequence length 360
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (11)
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
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Coronary Restenosis Coronary restenosis N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Hypertension ICD10 127.0 pulmonary arterial hypertension N/A N/A GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Myxoma Associate 35985684
Personality Disorders Associate 35985684