2 sources retrieved · Most recent: April 2026 · Index updated 16 days ago
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8PubMed Papers
19Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
male gonad developmentgallbladder diseaseAbnormality of the skeletal systemdislocationfamilial male-limited precocious puberty
Based on limited published evidence, C18orf63 is a chromosome 18 open reading frame with annotated involvement in male gonad development. Recent epigenetic studies identified distinct DNA methylation patterns at C18orf63 in youth with posttraumatic stress disorder, differentiating treatment responders from non-responders 1. The gene region is associated with PAX5, involved in neurodevelopment and inflammation. Additionally, C18orf63 was identified as a differentially expressed gene in lung adenocarcinoma, showing substantially reduced expression in cancer cells compared to healthy individuals 2. Functional characterization remains incomplete.
1
C18orf63 showed distinct DNA methylation profiles between PTSD treatment responders and non-responders in youth; genomic region related to PAX5 involved in neurodevelopment and inflammation
PMID: 390602462
C18orf63 identified as differentially expressed gene in lung adenocarcinoma with substantially reduced expression in cancer cells versus healthy individuals
PMID: 41868793⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
gallbladder diseaseOpen Targets
Abnormality of the skeletal systemOpen Targets
familial male-limited precocious pubertyOpen Targets
46,XX testicular disorder of sex developmentOpen Targets
Testicular regression syndromeOpen Targets
spermatogenic failure, X-linked, 2Open Targets
X-linked intellectual disability - macrocephaly - macroorchidismOpen Targets
X-linked intellectual disability-macrocephaly-macroorchidism syndromeOpen Targets
Isolated follicle stimulating hormone deficiencyOpen Targets
smoking initiationOpen Targets
attention deficit hyperactivity disorderOpen Targets
smoking behaviorOpen Targets
substance abuseOpen Targets
retinal vascular disorderOpen Targets
actinic keratosisOpen Targets
retinal vascular occlusionOpen Targets
deficiency anemiaOpen Targets
Uterine CarcinosarcomaOpen Targets
No pathogenic variants reported on ClinVar for this gene.