UBA1 |
ubiquitin-like modifier activating enzyme 1 |
314370 |
UBA1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
UBE2A |
ubiquitin-conjugating enzyme E2A (RAD6 homolog) |
312180 |
UBE2A database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
UBE2NL |
ubiquitin-conjugating enzyme E2N-like |
\N |
UBE2NL database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
UBE3A |
ubiquitin protein ligase E3A |
601623 |
NGRL, Manchester LOVD |
Bharathi Kattamuri and Simon Ramsden |
UBQLN2 |
ubiquilin 2 |
300264 |
UBQLN2 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
UNC119 |
unc-119 homolog (C. elegans) |
604011 |
Mutations of HRG4 |
Retina International |
UNC13D |
unc-13 homolog D (C. elegans) |
608897 |
UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3 |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
UNC13D |
unc-13 homolog D (C. elegans) |
608897 |
CCHMC - Human Genetics Mutation Database |
Ammar Husami and Theru A. Sivakumaran |
UNG |
uracil-DNA glycosylase |
191525 |
UNGbase: Mutation registry for UNG deficiency (Hyper-IgM syndrome, type 5) |
Anne Durandy and Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
UPF3B |
UPF3 regulator of nonsense transcripts homolog B (yeast) |
300298 |
UPF3B database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
UPRT |
uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) |
300656 |
UPRT database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
USH1C |
Usher syndrome 1C (autosomal recessive, severe) |
605242 |
Retinal and hearing impairment genetic mutation database USH1C |
David Baux |
USH1C |
Usher syndrome 1C (autosomal recessive, severe) |
605242 |
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database |
Ammar Husami and Theru A. Sivakumaran |
USH1C |
Usher syndrome 1C (autosomal recessive, severe) |
605242 |
Mutations of the Harmonin Gene |
Retina International |
USH1C |
Usher syndrome 1C (autosomal recessive, severe) |
605242 |
The UMD USH1C mutations database |
A.-F. Roux and D. Baux |
USH1G |
Usher syndrome 1G (autosomal recessive) |
607696 |
The UMD USH1G mutations database |
A.-F. Roux and D. Baux |
USH1G |
Usher syndrome 1G (autosomal recessive) |
607696 |
Retinal and hearing impairment genetic mutation database USH1G |
David Baux |
USH1G |
Usher syndrome 1G (autosomal recessive) |
607696 |
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database |
Ammar Husami and Theru A. Sivakumaran |
USH2A |
Usher syndrome 2A (autosomal recessive, mild) |
608400 |
Mutations of the USH2a Gene |
Retina International |
USH2A |
Usher syndrome 2A (autosomal recessive, mild) |
608400 |
The UMD USH2A mutations database |
A.-F. Roux and D. Baux |
USH2A |
Usher syndrome 2A (autosomal recessive, mild) |
608400 |
Retinal and hearing impairment genetic mutation database USH2A |
David Baux |
USH2A |
Usher syndrome 2A (autosomal recessive, mild) |
608400 |
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database |
Ammar Husami and Theru A. Sivakumaran |
USP11 |
ubiquitin specific peptidase 11 |
300050 |
USP11 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
USP26 |
ubiquitin specific peptidase 26 |
300309 |
USP26 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
USP51 |
ubiquitin specific peptidase 51 |
\N |
USP51 database at LOVD |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
USP9X |
ubiquitin specific peptidase 9, X-linked |
300072 |
USP9X database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |