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- UBE3A: ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome)
- UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
- UROD: uroporphyrinogen decarboxylase
- UROS: uroporphyrinogen III synthase (congenital erythropoietic porphyria)
- USH1C: Usher syndrome 1C (autosomal recessive, severe)
- USH1G: Usher syndrome 1G (autosomal recessive)
- USH2A: Usher syndrome 2A (autosomal recessive, mild)
- VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
- VHL: von Hippel-Lindau tumor suppressor
- VPS13A: vacuolar protein sorting 13 homolog A (S. cerevisiae)
- VPS13B: vacuolar protein sorting 13 homolog B (yeast)
- VWF: von Willebrand factor
- WFS1: Wolfram syndrome 1 (wolframin)
- WNT3: wingless-type MMTV integration site family, member 3
- WRN: Werner syndrome
- XK: X-linked Kx blood group (McLeod syndrome)
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