A (132) | B (54) | C (205) | D (45) | E (30) | F (80) | G (88) | H (109) | I (76) | J (9) | K (51) | L (35) | M (124) | N (53) | O (17) | P (143) | Q (1) | R (69) | S (130) | T (112) | U (26) | V (12) | W (12) | X (7) | Y (1) | Z (25)
HGNC GENE SYMBOL HGNC gene description OMIM NO DATABASE NAME/INTERNET ADDRESS CURATORS
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

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