OCA2 |
oculocutaneous albinism II |
611409 |
Mutations of the P-Gene |
Retina International |
OCA2 |
oculocutaneous albinism II |
611409 |
Albinism Database |
William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, U.S.A. |
OCRL |
oculocerebrorenal syndrome of Lowe |
300535 |
Database of the OCRL1 Mutations Causing Lowe Syndrome |
Robert L. Nussbaum, Sharon F. Suchy, Ti Lin, Genetic Disease Research Branch, NHGRI/NIH Bethesda, USA |
ODZ1 |
odz, odd Oz/ten-m homolog 1(Drosophila) |
300588 |
ODZ1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
OFD1 |
oral-facial-digital syndrome 1 |
300170 |
OFD1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
OGT |
O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) |
300255 |
OGT database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
OPA1 |
optic atrophy 1 (autosomal dominant) |
605290 |
Mutations of the Optic Atrophy 1 Gene |
Retina International |
OPA1 |
optic atrophy 1 (autosomal dominant) |
605290 |
eOPA1 - MITOchondrial DYNamics variation pages |
Marc FERRE, CHU Angers - CNRS 6214/INSERM 1083, France |
OPHN1 |
oligophrenin 1 |
300127 |
OPHN1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
OPN1LW |
opsin 1 (cone pigments), long-wave-sensitive |
303900 |
Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP) |
Retina International |
OPN1MW |
opsin 1 (cone pigments), medium-wave-sensitive |
303800 |
Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP) |
Retina International |
OPN1SW |
opsin 1 (cone pigments), short-wave-sensitive |
190900 |
Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP) |
Retina International |
OTC |
ornithine carbamoyltransferase |
300461 |
Ornithine Transcarbamylase Deficiency Website |
Hiroki Morizono, Mendel Tuchman, Children's National Medical Center, Washington DC, USA |
OTC |
ornithine carbamoyltransferase |
300461 |
OTC - Ornithine transcarbamylase deficiency |
Bert Bakker, LUMC, Leiden, Nederland |
OTOF |
otoferlin |
603681 |
Hereditary Hearing Loss Homepage |
Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
OTOF |
otoferlin |
603681 |
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database |
Ammar Husami and Theru A. Sivakumaran |
OTX2 |
orthodenticle homeobox 2 |
600037 |
OTX2 Allelic Variant Database |
Graeme Grimes, Isabel Hanson, David FitzPatrick, Kathy Williamson and Veronica van Heyningen |