1 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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6PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITYβ Swiss-Prot Reviewed
electron transport chainulcerative colitisneoplasmnervous system diseasehepatocellular carcinoma
Based on limited published evidence, WDR93 encodes a WD repeat domain-containing protein. The gene was identified as a novel disease-associated locus through whole-exome sequencing of consanguineous families with neurological disorders 1. WDR93 mutations were implicated in recessive neurogenetic disease, though the specific molecular function and detailed clinical phenotype remain to be fully characterized. Further investigation is needed to establish the protein's biochemical role and disease mechanisms.
1
WDR93 identified as a novel recessive gene associated with neurological/neurogenetic disease through exome sequencing of consanguineous families
PMID: 25558065β Limited data available β This gene has 1 indexed publication. Summary and analysis may be incomplete.
ulcerative colitisOpen Targets
hepatocellular carcinomaOpen Targets
nervous system diseaseOpen Targets
squamous cell carcinomaOpen Targets
psychiatric disorderOpen Targets
viral diseaseOpen Targets
sessile serrated polypOpen Targets
clear cell renal carcinomaOpen Targets
colon adenocarcinomaOpen Targets
colorectal adenocarcinomaOpen Targets
gastric cancerOpen Targets
Hereditary breast cancerOpen Targets
hereditary breast carcinomaOpen Targets
thyroid cancer, nonmedullary, 1Open Targets
urinary bladder cancerOpen Targets
urinary bladder carcinomaOpen Targets
uterine corpus endometrial carcinomaOpen Targets
NM_020212.2(WDR93):c.280T>C (p.Tyr94His)Likely pathogenic
Autistic spectrum disorder with isolated skills
ββββ2014β Residue 94