Property Summary

NCBI Gene PubMed Count 21
PubMed Score 104.67
PubTator Score 46.27

Knowledge Summary


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Gene RIF (2)

20801516 Observational study of genetic testing. (HuGE Navigator)
20335603 Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 should be tested for additional mutations in ABCA4 and ROM1, as they may alter the progression of the PRPH2 phenotype.

AA Sequence


Text Mined References (21)

PMID Year Title
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20335603 2010 ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11641407 2001 The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes.
11559856 2001 Update on the molecular genetics of retinitis pigmentosa.
10681511 2000 Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration.
9331261 1997 Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.
8938448 1996 Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. The European Consortium on Men1, (GENEM 1; Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1).
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8595413 1995 Mutation analysis of the ROM1 gene in retinitis pigmentosa.
8504299 1993 Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation.
8202715 1994 Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.
7904211 1993 Polymorphisms and rare sequence variants at the ROM1 locus.
1610568 1992 Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies.
1415249 1992 Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM.
1302019 1992 Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.