0 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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33PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY✓ Swiss-Prot Reviewed
Leber congenital amaurosisAbnormality of the skeletal systemJoubert syndromeobesity
AI summary not yet available. Showing NCBI Gene summary.
intraflagellar transport 38
⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Leber congenital amaurosisOpen Targets
Abnormality of the skeletal systemOpen Targets
Joubert syndromeOpen Targets
type 2 diabetes mellitusOpen Targets
cardiovascular diseaseOpen Targets
ovarian neoplasmOpen Targets
urethral syndromeOpen Targets
Retinal dystrophyOpen Targets
overnutritionOpen Targets
inflammatory bowel diseaseOpen Targets
Toriello-Lacassie-Droste syndromeOpen Targets
diabetes mellitusOpen Targets
alcohol drinkingOpen Targets
Crigler-Najjar syndrome type 2Open Targets
metabolic syndromeOpen Targets
transient familial neonatal hyperbilirubinemiaOpen Targets
gluthathione peroxidase deficiencyOpen Targets
Rotor syndromeOpen Targets
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe)Pathogenic
Leber congenital amaurosis|Toriello-Lacassie-Droste syndrome
★☆☆☆2015→ Residue 273
NM_015041.3(IFT38):c.338T>G (p.Met113Arg)Likely pathogenic
Joubert syndrome
☆☆☆☆2016→ Residue 113